hgnc_id
string | gene_symbol
string | name
string | locus_group
string | locus_type
string | status
string | location
string | alias_symbol
string | alias_name
string | prev_symbol
string | prev_name
string | gene_group
sequence | gene_group_id
sequence | date_approved_reserved
string | date_symbol_changed
string | date_name_changed
string | date_modified
string | entrez_id
string | ensembl_gene_id
string | vega_id
string | ucsc_id
string | ena
sequence | refseq_accession
sequence | ccds_id
sequence | uniprot_ids
sequence | pubmed_id
sequence | mgd_id
sequence | rgd_id
sequence | lsdb
sequence | omim_id
sequence | orphanet
float64 | merops
string | iuphar
string | cd
string | enzyme_id
sequence | agr
string | mane_select
sequence | gencc
string | uuid
string | rna_central_id
sequence | curator_notes
sequence | metadata_source
string |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HGNC:9141 | PMVK | phosphomevalonate kinase | protein-coding gene | gene with protein product | Approved | 1q21.3 | null | null | null | 1999-07-09 | null | null | 2023-01-20 | 10654 | ENSG00000163344 | OTTHUMG00000037415 | uc001ffq.4 | [
"L77213"
] | [
"NM_006556"
] | [
"CCDS1073"
] | [
"Q15126"
] | [
8663599,
10191291
] | [
"MGI:1915853"
] | [
"RGD:1310812"
] | null | [
"607622"
] | 444,563 | null | objectId:641 | null | [
"2.7.4.2"
] | HGNC:9141 | [
"ENST00000368467.4",
"NM_006556.4"
] | HGNC:9141 | abf4ee40-08d2-404d-9534-b17040e821b6 | null | null | HGNC |
|||
HGNC:21484 | MCM9 | minichromosome maintenance 9 homologous recombination repair factor | protein-coding gene | gene with protein product | Approved | 6q22.31 | null | null | null | [
"MCM family"
] | [
1085
] | 2003-06-18 | 2007-04-04 | 2015-08-25 | 2023-01-20 | 254394 | ENSG00000111877 | OTTHUMG00000015468 | uc063qzj.1 | [
"BC031658"
] | [
"NM_153255"
] | [
"CCDS5121",
"CCDS56447"
] | [
"Q9NXL9"
] | [
16226853,
15850810,
16495042
] | [
"MGI:1918817"
] | [
"RGD:1560557"
] | null | [
"610098"
] | 448,630 | null | null | null | null | HGNC:21484 | [
"ENST00000619706.5",
"NM_017696.3"
] | HGNC:21484 | ceb20fe9-9be6-416f-8fea-db98887324ca | null | null | HGNC |
|
HGNC:15861 | DHX35 | DEAH-box helicase 35 | protein-coding gene | gene with protein product | Approved | 20q11.23-q12 | null | null | null | [
"DEAH-box helicases",
"Spliceosomal C complex"
] | [
500,
1510
] | 2001-11-27 | 2003-06-13 | 2016-01-07 | 2023-01-20 | 60625 | ENSG00000101452 | OTTHUMG00000032463 | uc002xjh.4 | [
"AK026412"
] | [
"NM_021931"
] | [
"CCDS13310",
"CCDS54463"
] | [
"Q9H5Z1"
] | null | [
"MGI:1918965"
] | [
"RGD:1311165"
] | null | null | null | null | null | null | null | HGNC:15861 | [
"ENST00000252011.8",
"NM_021931.4"
] | null | 4dd0f447-2041-4808-9cb8-6f47551572df | null | null | HGNC |
|
HGNC:6201 | JTB | jumping translocation breakpoint | protein-coding gene | gene with protein product | Approved | 1q21.3 | null | null | null | null | 2000-01-31 | null | null | 2023-01-20 | 10899 | ENSG00000143543 | OTTHUMG00000036590 | uc001fds.4 | [
"AB016488"
] | [
"NM_006694"
] | [
"CCDS1057"
] | [
"O76095"
] | [
10321732,
27751357,
22079049
] | [
"MGI:1346082"
] | [
"RGD:2942"
] | null | [
"604671"
] | null | null | null | null | null | HGNC:6201 | [
"ENST00000271843.9",
"NM_006694.4"
] | null | 50fb9258-a49a-45dc-9fee-622e37c71fbb | null | null | HGNC |
||
HGNC:9571 | PSMF1 | proteasome inhibitor subunit 1 | protein-coding gene | gene with protein product | Approved | 20p13 | null | null | null | [
"Proteasome"
] | [
690
] | 1999-04-15 | null | 2015-08-12 | 2023-01-20 | 9491 | ENSG00000125818 | OTTHUMG00000031656 | uc002wel.4 | [
"D88378"
] | [
"NM_178578"
] | [
"CCDS13010",
"CCDS82589"
] | [
"Q92530"
] | [
10363639
] | [
"MGI:1346072"
] | [
"RGD:1587528"
] | null | [
"617858"
] | null | null | null | null | null | HGNC:9571 | [
"ENST00000335877.11",
"NM_006814.5"
] | null | c7ea0693-4dfd-4564-b3d1-a0883f4ad5ac | null | null | HGNC |
|
HGNC:23990 | STAC2 | SH3 and cysteine rich domain 2 | protein-coding gene | gene with protein product | Approved | 17q12 | null | [
"SH3 and cysteine rich domain family"
] | [
2308
] | 2004-05-19 | null | null | 2024-01-17 | 342667 | ENSG00000141750 | OTTHUMG00000179039 | uc002hrs.4 | [
"AJ608762"
] | [
"NM_198993"
] | [
"CCDS11335"
] | [
"Q6ZMT1"
] | [
25548159,
29363593
] | [
"MGI:2144518"
] | [
"RGD:1305548"
] | null | null | null | null | null | null | null | HGNC:23990 | [
"ENST00000333461.6",
"NM_198993.5"
] | null | 8206483b-f2b4-41b4-af32-6d5f05cd38e4 | null | null | HGNC |
|||
HGNC:10683 | SDHD | succinate dehydrogenase complex subunit D | protein-coding gene | gene with protein product | Approved | 11q23.1 | null | null | null | null | [
"Mitochondrial complex II: succinate dehydrogenase subunits"
] | [
641
] | 1997-10-21 | null | 2016-01-28 | 2023-01-20 | 6392 | ENSG00000204370 | OTTHUMG00000166997 | uc001pmz.5 | [
"AB006202"
] | [
"NM_003002"
] | null | [
"O14521"
] | [
9533030,
1301144
] | [
"MGI:1914175"
] | [
"RGD:735231"
] | [
"SDHD @ LOVD|http://www.LOVD.nl/SDHD",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHD",
"LRG_9|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_9.xml"
] | [
"602690"
] | 118,561 | null | null | null | null | HGNC:10683 | [
"ENST00000375549.8",
"NM_003002.4"
] | HGNC:10683 | a047a819-acfa-4406-8689-ec43b4fd19a1 | null | null | HGNC |
HGNC:12563 | UMPS | uridine monophosphate synthetase | protein-coding gene | gene with protein product | Approved | 3q21.2 | null | [
"MicroRNA protein coding host genes"
] | [
1691
] | 1986-01-01 | null | 2008-02-04 | 2023-01-20 | 7372 | ENSG00000114491 | OTTHUMG00000159431 | uc003ehl.5 | null | [
"NM_000373"
] | [
"CCDS3029"
] | [
"P11172"
] | [
2767686
] | [
"MGI:1298388"
] | [
"RGD:1311908"
] | null | [
"613891"
] | 120,414 | null | null | null | [
"2.4.2.10",
"4.1.1.23"
] | HGNC:12563 | [
"ENST00000232607.7",
"NM_000373.4"
] | HGNC:12563 | a5555112-cf2f-42ea-bf1a-9c01029b96ae | null | null | HGNC |
|||
HGNC:3582 | FANCA | FA complementation group A | protein-coding gene | gene with protein product | Approved | 16q24.3 | null | null | null | [
"FA complementation groups",
"FA core complex"
] | [
548,
1751
] | 1995-12-22 | null | 2018-05-09 | 2023-01-20 | 2175 | ENSG00000187741 | OTTHUMG00000173049 | uc002fou.2 | [
"Z83067"
] | [
"NM_000135"
] | null | [
"O15360"
] | [
7581462,
9382107
] | [
"MGI:1341823"
] | [
"RGD:1311380"
] | [
"Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCA",
"LRG_495|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_495.xml"
] | [
"607139"
] | 121,693 | null | null | null | null | HGNC:3582 | [
"ENST00000389301.8",
"NM_000135.4"
] | HGNC:3582 | 6f7047de-b0cd-436c-9518-cf587cd5095e | null | null | HGNC |
|
HGNC:8988 | PIN1 | peptidylprolyl cis/trans isomerase, NIMA-interacting 1 | protein-coding gene | gene with protein product | Approved | 19p13 | null | null | null | [
"Parvulins"
] | [
920
] | 1996-12-16 | null | 2008-03-25 | 2023-01-20 | 5300 | ENSG00000127445 | OTTHUMG00000180388 | uc002mml.3 | null | [
"NM_006221"
] | [
"CCDS12220"
] | [
"Q13526"
] | [
8606777
] | [
"MGI:1346036"
] | [
"RGD:1310299"
] | [
"LRG_847|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_847.xml"
] | [
"601052"
] | null | null | objectId:3171 | null | null | HGNC:8988 | [
"ENST00000247970.9",
"NM_006221.4"
] | null | 0ce903c5-b19b-459a-a14a-0c3ec9d9a303 | null | null | HGNC |
|
HGNC:6743 | CAPRIN1 | cell cycle associated protein 1 | protein-coding gene | gene with protein product | Approved | 11p13 | null | null | null | null | null | null | 1995-12-18 | 2007-03-27 | 2007-03-27 | 2023-01-20 | 4076 | ENSG00000135387 | OTTHUMG00000166248 | uc001mvh.2 | [
"BC001731"
] | [
"NM_005898"
] | [
"CCDS31453",
"CCDS31454"
] | [
"Q14444"
] | [
7657653,
16177067,
17210633,
14764709,
15471883
] | [
"MGI:1858234"
] | [
"RGD:1305707"
] | null | [
"601178"
] | null | null | null | null | null | HGNC:6743 | [
"ENST00000341394.9",
"NM_005898.5"
] | HGNC:6743 | 02292dd6-ce1e-4cb2-81e0-fdad6935531a | null | null | HGNC |
HGNC:25682 | FAM106A | family with sequence similarity 106 member A | non-coding RNA | RNA, long non-coding | Approved | 17p11.2 | null | null | [
"Long non-coding RNAs with FAM root symbol"
] | [
1993
] | 2006-01-12 | null | 2015-11-18 | 2023-03-15 | 80039 | ENSG00000273018 | OTTHUMG00000179516 | uc002gtz.3 | [
"AK021862"
] | [
"NR_170998"
] | null | [
"Q4KMX7"
] | [
14702039
] | null | null | null | null | null | null | null | null | null | HGNC:25682 | null | null | c060d96f-1677-4d6f-bce6-842d9b23ee49 | [
"URS000075F0DD"
] | null | HGNC |
||
HGNC:9884 | RB1 | RB transcriptional corepressor 1 | protein-coding gene | gene with protein product | Approved | 13q14.2 | null | null | null | null | [
"Receptor ligands"
] | [
542
] | 1986-01-01 | null | 2016-05-24 | 2023-01-20 | 5925 | ENSG00000139687 | OTTHUMG00000016900 | uc001vcb.4 | [
"M15400"
] | [
"NM_000321"
] | [
"CCDS31973"
] | [
"P06400"
] | [
1857421,
15057823
] | [
"MGI:97874"
] | [
"RGD:3540"
] | [
"RB1-LSDB|http://rb1-lovd.d-lohmann.de/home.php?select_db=RB1",
"LRG_517|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_517.xml"
] | [
"614041"
] | 118,239 | null | ligandId:5253 | null | null | HGNC:9884 | [
"ENST00000267163.6",
"NM_000321.3"
] | HGNC:9884 | 6303f2b5-2189-41b4-9ea1-7788d53ddf76 | null | null | HGNC |
HGNC:19701 | CNKSR2 | connector enhancer of kinase suppressor of Ras 2 | protein-coding gene | gene with protein product | Approved | Xp22.12 | null | [
"Pleckstrin homology domain containing",
"Sterile alpha motif domain containing",
"PDZ domain containing"
] | [
682,
760,
1220
] | 2004-05-27 | null | null | 2023-01-20 | 22866 | ENSG00000149970 | OTTHUMG00000021233 | uc011mjo.3 | [
"AB020709"
] | [
"NM_014927"
] | null | [
"Q8WXI2"
] | null | [
"MGI:2661175"
] | [
"RGD:708454"
] | [
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/CNKSR2"
] | [
"300724"
] | 449,961 | null | null | null | null | HGNC:19701 | [
"ENST00000379510.5",
"NM_014927.5"
] | HGNC:19701 | ede2a473-6529-4e99-b519-9a0547dc59f8 | null | null | HGNC |
|||
HGNC:7224 | MPV17 | mitochondrial inner membrane protein MPV17 | protein-coding gene | gene with protein product | Approved | 2p23.3 | null | null | null | null | null | 1994-03-21 | null | 2018-08-15 | 2023-01-20 | 4358 | ENSG00000115204 | OTTHUMG00000097074 | uc002rjs.4 | null | [
"NM_002437"
] | [
"CCDS1748"
] | [
"P39210"
] | [
8281143,
16582910
] | [
"MGI:97138"
] | [
"RGD:1310512"
] | null | [
"137960"
] | 123,470 | null | null | null | null | HGNC:7224 | [
"ENST00000380044.6",
"NM_002437.5"
] | HGNC:7224 | eea097c8-474e-469e-ac92-fdf610015849 | null | null | HGNC |
|
HGNC:25981 | TOR4A | torsin family 4 member A | protein-coding gene | gene with protein product | Approved | 9q34.3 | null | null | null | [
"Torsins"
] | [
1831
] | 2007-02-08 | 2012-04-03 | 2016-01-25 | 2023-01-20 | 54863 | ENSG00000198113 | OTTHUMG00000131779 | uc004cmn.4 | [
"AK023361"
] | [
"NM_017723"
] | [
"CCDS7041"
] | [
"Q9NXH8"
] | null | [
"MGI:2442720"
] | [
"RGD:1308019"
] | null | null | null | null | null | null | null | HGNC:25981 | [
"ENST00000357503.3",
"NM_017723.3"
] | null | e46a6c88-929d-4ef8-96f3-940d85a2fd1c | null | null | HGNC |
|
HGNC:22474 | MED13 | mediator complex subunit 13 | protein-coding gene | gene with protein product | Approved | 17q23.2 | null | null | null | [
"Mediator complex"
] | [
1061
] | 2004-03-10 | 2007-07-30 | 2007-07-30 | 2023-01-20 | 9969 | ENSG00000108510 | OTTHUMG00000179251 | uc002izo.3 | [
"AB011165"
] | [
"NM_005121"
] | [
"CCDS42366"
] | [
"Q9UHV7"
] | [
1019863
] | [
"MGI:3029632"
] | [
"RGD:1304829"
] | null | [
"603808"
] | null | null | null | null | null | HGNC:22474 | [
"ENST00000397786.7",
"NM_005121.3"
] | HGNC:22474 | aec2aebf-e016-4ddc-a4fb-c38268681610 | null | null | HGNC |
|
HGNC:10839 | SHBG | sex hormone binding globulin | protein-coding gene | gene with protein product | Approved | 17p13.1 | null | null | null | null | null | 1990-03-14 | null | 2016-04-04 | 2023-01-20 | 6462 | ENSG00000129214 | OTTHUMG00000108153 | uc002gie.4 | null | [
"NM_001040"
] | null | [
"P04278"
] | [
2587256
] | [
"MGI:98295"
] | [
"RGD:3671"
] | null | [
"182205"
] | null | null | null | null | null | HGNC:10839 | [
"ENST00000380450.9",
"NM_001040.5"
] | null | 33acc57a-71c4-4856-bdbc-f13781b2e547 | null | null | HGNC |
|
HGNC:29666 | MTFMT | mitochondrial methionyl-tRNA formyltransferase | protein-coding gene | gene with protein product | Approved | 15q22.31 | null | null | null | 2005-07-19 | 2005-08-09 | null | 2023-01-20 | 123263 | ENSG00000103707 | OTTHUMG00000172371 | uc002aof.5 | [
"AK055688"
] | [
"NM_139242"
] | [
"CCDS45280"
] | [
"Q96DP5"
] | [
9614118
] | [
"MGI:1916856"
] | [
"RGD:1309462"
] | null | [
"611766"
] | 299,657 | null | null | null | [
"2.1.2.9"
] | HGNC:29666 | [
"ENST00000220058.9",
"NM_139242.4"
] | HGNC:29666 | 69b4a5b8-b3ea-4f71-a6f5-53eeb38a6f03 | null | null | HGNC |
|||
HGNC:11999 | TP53BP1 | tumor protein p53 binding protein 1 | protein-coding gene | gene with protein product | Approved | 15q15.3 | null | null | [
"Tudor domain containing"
] | [
780
] | 2000-06-24 | null | 2007-08-02 | 2023-01-20 | 7158 | ENSG00000067369 | OTTHUMG00000059757 | uc001zrs.4 | [
"U09477"
] | [
"NM_001141979"
] | null | [
"Q12888"
] | [
8016121,
9748285
] | [
"MGI:1351320"
] | [
"RGD:1308039"
] | null | [
"605230"
] | null | null | null | null | null | HGNC:11999 | [
"ENST00000382044.9",
"NM_001141980.3"
] | null | a38d2322-3b58-4248-9f67-eae077c94ab7 | null | null | HGNC |
||
HGNC:3587 | FANCF | FA complementation group F | protein-coding gene | gene with protein product | Approved | 11p14.3 | null | null | [
"FA complementation groups",
"FA core complex"
] | [
548,
1751
] | 1998-08-26 | null | 2018-05-09 | 2023-01-20 | 2188 | ENSG00000183161 | OTTHUMG00000166070 | uc001mql.2 | null | [
"NM_022725"
] | [
"CCDS7857"
] | [
"Q9NPI8"
] | [
9382107
] | [
"MGI:3689889"
] | [
"RGD:1561456"
] | [
"Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCF",
"LRG_527|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_527.xml"
] | [
"613897"
] | 121,719 | null | null | null | null | HGNC:3587 | [
"ENST00000327470.6",
"NM_022725.4"
] | HGNC:3587 | 0a7889fa-e413-427d-b8c5-efd2258ab48c | null | null | HGNC |
||
HGNC:1148 | BUB1 | BUB1 mitotic checkpoint serine/threonine kinase | protein-coding gene | gene with protein product | Approved | 2q13 | null | null | null | null | null | 1997-08-18 | null | 2016-01-15 | 2023-01-20 | 699 | ENSG00000169679 | OTTHUMG00000153638 | uc002tgc.5 | [
"AF046078"
] | [
"NM_004336"
] | null | [
"O43683"
] | [
9441741
] | [
"MGI:1100510"
] | [
"RGD:1311707"
] | null | [
"602452"
] | 367,084 | null | objectId:1949 | null | null | HGNC:1148 | [
"ENST00000302759.11",
"NM_004336.5"
] | HGNC:1148 | da597a4b-75a5-4d5b-92f0-98ca2f0a918d | null | null | HGNC |
|
HGNC:16245 | PARD6B | par-6 family cell polarity regulator beta | protein-coding gene | gene with protein product | Approved | 20q13.13 | null | null | [
"PDZ domain containing"
] | [
1220
] | 2001-08-01 | null | 2013-08-28 | 2023-01-20 | 84612 | ENSG00000124171 | OTTHUMG00000032732 | uc002xvo.3 | [
"AB044555"
] | [
"NM_032521"
] | [
"CCDS33485"
] | [
"Q9BYG5"
] | [
11260256
] | [
"MGI:2135605"
] | [
"RGD:1308205"
] | null | [
"608975"
] | null | null | null | null | null | HGNC:16245 | [
"ENST00000371610.7",
"NM_032521.3"
] | null | f518108a-cd0c-4737-b398-7531593c5f49 | null | null | HGNC |
||
HGNC:12441 | TYMS | thymidylate synthetase | protein-coding gene | gene with protein product | Approved | 18p11.32 | null | null | null | null | 1990-09-10 | null | null | 2023-01-20 | 7298 | ENSG00000176890 | OTTHUMG00000131473 | uc010dka.2 | [
"X02308"
] | [
"NM_001071"
] | null | [
"P04818"
] | null | [
"MGI:98878"
] | [
"RGD:3921"
] | [
"LRG_783|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_783.xml"
] | [
"188350"
] | 241,969 | null | objectId:2642 | null | [
"2.1.1.45"
] | HGNC:12441 | [
"ENST00000323274.15",
"NM_001071.4"
] | null | c667dcf6-a2c1-48a7-ae57-aa4cc4023a2e | null | null | HGNC |
||
HGNC:16209 | RPRD1B | regulation of nuclear pre-mRNA domain containing 1B | protein-coding gene | gene with protein product | Approved | 20q11.23 | null | null | null | null | null | null | 2001-07-17 | 2008-07-28 | 2008-08-15 | 2023-01-20 | 58490 | ENSG00000101413 | OTTHUMG00000032434 | uc002xho.5 | [
"AL109823"
] | [
"NM_021215"
] | [
"CCDS13301"
] | [
"Q9NQG5"
] | [
22231121
] | [
"MGI:1917720"
] | [
"RGD:1304782"
] | null | [
"614694"
] | null | null | null | null | null | HGNC:16209 | [
"ENST00000373433.9",
"NM_021215.4"
] | null | a742b1b7-2873-4a39-8c4c-67e7c1f2a904 | null | null | HGNC |
HGNC:5468 | IGFALS | insulin like growth factor binding protein acid labile subunit | protein-coding gene | gene with protein product | Approved | 16p13.3 | null | null | null | null | 1997-11-28 | null | 2015-11-23 | 2023-01-20 | 3483 | ENSG00000099769 | OTTHUMG00000128638 | uc002cmy.4 | [
"M86826"
] | [
"NM_001146006"
] | [
"CCDS10446",
"CCDS53982"
] | [
"P35858"
] | [
1379671,
16114275
] | [
"MGI:107973"
] | [
"RGD:68429"
] | [
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IGFALS"
] | [
"601489"
] | 159,982 | null | null | null | null | HGNC:5468 | [
"ENST00000215539.4",
"NM_004970.3"
] | HGNC:5468 | 22c1142b-9019-4407-9b14-255ca573ed4d | null | null | HGNC |
||
HGNC:29249 | FBXO42 | F-box protein 42 | protein-coding gene | gene with protein product | Approved | 1p36.13 | null | [
"F-boxes other"
] | [
560
] | 2004-06-15 | null | null | 2023-01-20 | 54455 | ENSG00000037637 | OTTHUMG00000002218 | uc001ayg.4 | [
"BC063864"
] | [
"NM_018994"
] | [
"CCDS30613"
] | [
"Q6P3S6"
] | [
10718198
] | [
"MGI:1924992"
] | [
"RGD:1304787"
] | null | [
"609109"
] | null | null | null | null | null | HGNC:29249 | [
"ENST00000375592.8",
"NM_018994.3"
] | null | 71f7b405-bef0-49a9-9df2-4495231b6fe3 | null | null | HGNC |
|||
HGNC:30631 | TADA1 | transcriptional adaptor 1 | protein-coding gene | gene with protein product | Approved | 1q24.1 | null | null | null | [
"SAGA complex"
] | [
1059
] | 2005-06-10 | 2009-10-02 | 2009-10-02 | 2023-01-20 | 117143 | ENSG00000152382 | OTTHUMG00000034321 | uc001gdw.4 | [
"BC015401"
] | [
"NM_053053"
] | [
"CCDS1255"
] | [
"Q96BN2"
] | [
11564863
] | [
"MGI:1196415"
] | [
"RGD:1306774"
] | null | [
"612763"
] | null | null | null | null | null | HGNC:30631 | [
"ENST00000367874.5",
"NM_053053.4"
] | null | 5b2623c7-5d77-478c-a809-ff35f76b6242 | null | null | HGNC |
|
HGNC:9826 | RAD54L | RAD54 like | protein-coding gene | gene with protein product | Approved | 1p34.1 | null | null | [
"SNF2 related family"
] | [
1190
] | 1998-11-04 | null | 2017-08-08 | 2023-01-20 | 8438 | ENSG00000085999 | OTTHUMG00000007772 | uc009vye.2 | [
"X97795"
] | [
"NM_003579"
] | [
"CCDS532"
] | [
"Q92698"
] | [
8805304
] | [
"MGI:894697"
] | [
"RGD:1310600"
] | [
"LRG_1414|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1414.xml"
] | [
"603615"
] | 437,664 | null | null | null | null | HGNC:9826 | [
"ENST00000371975.9",
"NM_003579.4"
] | null | 9afbb9bf-2df3-495c-888e-b5c961aa7439 | null | null | HGNC |
||
HGNC:24327 | VGLL3 | vestigial like family member 3 | protein-coding gene | gene with protein product | Approved | 3p12.1 | null | null | [
"Vestigial like family"
] | [
367
] | 2005-12-30 | null | 2015-11-23 | 2023-01-20 | 389136 | ENSG00000206538 | OTTHUMG00000158984 | uc003dqn.4 | [
"AF099505"
] | [
"NM_016206"
] | [
"CCDS43110",
"CCDS82807"
] | [
"A8MV65"
] | [
12376544
] | [
"MGI:1920819"
] | [
"RGD:1560030"
] | null | [
"609980"
] | null | null | null | null | null | HGNC:24327 | [
"ENST00000398399.7",
"NM_016206.4"
] | null | 61b910b1-3d7e-4ba1-96f2-84c99b785f06 | null | null | HGNC |
||
HGNC:20292 | CAB39 | calcium binding protein 39 | protein-coding gene | gene with protein product | Approved | 2q37.1 | null | [
"Armadillo like helical domain containing"
] | [
1492
] | 2004-07-02 | null | null | 2023-07-26 | 51719 | ENSG00000135932 | OTTHUMG00000133220 | uc002vqx.4 | [
"AF113536"
] | [
"NM_016289"
] | [
"CCDS2478"
] | [
"Q9Y376"
] | [
8418809,
14730349
] | [
"MGI:107438"
] | [
"RGD:1306390"
] | null | [
"612174"
] | null | null | null | null | null | HGNC:20292 | [
"ENST00000258418.10",
"NM_016289.4"
] | null | c4f4a894-9b0e-4f68-a0a0-f132937b4ac1 | null | null | HGNC |
|||
HGNC:12687 | VHL | von Hippel-Lindau tumor suppressor | protein-coding gene | gene with protein product | Approved | 3p25.3 | null | null | null | null | 1986-01-01 | null | 2016-03-02 | 2023-01-20 | 7428 | ENSG00000134086 | OTTHUMG00000128668 | uc003bvc.4 | [
"L15409"
] | [
"NM_000551"
] | null | [
"P40337"
] | [
9671762
] | [
"MGI:103223"
] | [
"RGD:3960"
] | [
"UMD Locus Specific Databases|http://www.umd.be/",
"LRG_322|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_322.xml"
] | [
"608537"
] | 120,467 | null | objectId:3204 | null | null | HGNC:12687 | [
"ENST00000256474.3",
"NM_000551.4"
] | HGNC:12687 | 50929358-41f1-430c-af5a-d727a5bd6a3e | null | null | HGNC |
||
HGNC:17034 | TUSC2 | tumor suppressor 2, mitochondrial calcium regulator | protein-coding gene | gene with protein product | Approved | 3p21.31 | null | null | null | null | null | 2003-09-25 | 2004-01-21 | 2018-02-23 | 2023-01-20 | 11334 | ENSG00000114383 | OTTHUMG00000156877 | uc003czy.2 | [
"AF055479"
] | [
"NM_007275"
] | [
"CCDS2819"
] | [
"O75896"
] | [
8780057,
11593436
] | [
"MGI:1931086"
] | [
"RGD:1561664"
] | null | [
"607052"
] | null | null | null | null | null | HGNC:17034 | [
"ENST00000232496.5",
"NM_007275.3"
] | null | e0126842-7a76-4abe-8b75-6309735e64eb | null | null | HGNC |
|
HGNC:23147 | UNC13D | unc-13 homolog D | protein-coding gene | gene with protein product | Approved | 17q25.3 | null | null | [
"UNC13 homologs"
] | [
836
] | 2003-10-16 | null | 2016-04-05 | 2024-01-16 | 201294 | ENSG00000092929 | OTTHUMG00000179895 | uc002jpp.5 | [
"AK024474"
] | [
"NM_199242"
] | [
"CCDS11730"
] | [
"Q70J99"
] | [
17993578
] | [
"MGI:1917700"
] | [
"RGD:628593"
] | [
"UNC13Dbase: Mutation registry for Familial hemophagocytic lymphohistiocytosis 3|http://structure.bmc.lu.se/idbase/UNC13Dbase/",
"CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=UNC13D",
"LRG_122|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_122.xml"
] | [
"608897"
] | 120,416 | null | null | null | null | HGNC:23147 | [
"ENST00000207549.9",
"NM_199242.3"
] | HGNC:23147 | 9df77aac-e404-4007-92ad-897f72a70930 | null | null | HGNC |
||
HGNC:18017 | NUP160 | nucleoporin 160 | protein-coding gene | gene with protein product | Approved | 11p11.2 | null | null | null | [
"Nucleoporins"
] | [
1051
] | 2002-01-18 | null | 2016-06-01 | 2023-06-19 | 23279 | ENSG00000030066 | OTTHUMG00000166534 | uc001ngm.4 | [
"D83781"
] | [
"NM_015231"
] | [
"CCDS31484",
"CCDS81567"
] | [
"Q12769"
] | [
11684705
] | [
"MGI:1926227"
] | [
"RGD:1311052"
] | null | [
"607614"
] | null | null | null | null | null | HGNC:18017 | [
"ENST00000378460.7",
"NM_015231.3"
] | HGNC:18017 | bea38402-fcc3-4995-a241-6265f0a379ce | null | null | HGNC |
|
HGNC:13607 | FBXW11 | F-box and WD repeat domain containing 11 | protein-coding gene | gene with protein product | Approved | 5q35.1 | null | null | null | [
"WD repeat domain containing",
"F-box and WD repeat domain containing"
] | [
362,
559
] | 2000-09-27 | 2004-06-16 | 2007-02-08 | 2023-01-20 | 23291 | ENSG00000072803 | OTTHUMG00000163267 | uc003mbl.2 | [
"AB014596"
] | [
"NM_012300"
] | null | [
"Q9UKB1"
] | [
10531035,
10694485
] | [
"MGI:2144023"
] | [
"RGD:1309121"
] | null | [
"605651"
] | null | null | null | null | null | HGNC:13607 | [
"ENST00000517395.6",
"NM_001378974.1"
] | HGNC:13607 | 79ad3c1d-e16a-43f0-b26a-0e7af238b35e | null | null | HGNC |
|
HGNC:4113 | GAK | cyclin G associated kinase | protein-coding gene | gene with protein product | Approved | 4p16.3 | null | null | [
"DNAJ (HSP40) heat shock proteins",
"C2 tensin-type domain containing"
] | [
584,
837
] | 1997-01-09 | null | null | 2023-01-20 | 2580 | ENSG00000178950 | OTTHUMG00000088301 | uc003gbm.6 | [
"D88435"
] | [
"NM_005255"
] | null | [
"O14976"
] | [
9299234
] | [
"MGI:2442153"
] | [
"RGD:621589"
] | null | [
"602052"
] | null | null | objectId:2027 | null | null | HGNC:4113 | [
"ENST00000314167.9",
"NM_005255.4"
] | null | e2827137-82f7-4864-9b8a-14107b34eec4 | null | null | HGNC |
||
HGNC:4606 | PDIA3 | protein disulfide isomerase family A member 3 | protein-coding gene | gene with protein product | Approved | 15q15.3 | null | null | null | [
"Protein disulfide isomerases"
] | [
692
] | 1997-06-09 | 2005-03-03 | 2015-11-16 | 2023-01-20 | 2923 | ENSG00000167004 | OTTHUMG00000044444 | uc001zsu.4 | null | [
"NM_005313"
] | [
"CCDS10101"
] | [
"P30101"
] | [
8974399
] | [
"MGI:95834"
] | [
"RGD:68430"
] | null | [
"602046"
] | null | null | objectId:3293 | null | [
"5.3.4.1"
] | HGNC:4606 | [
"ENST00000300289.10",
"NM_005313.5"
] | null | b3abf99f-c531-4b1b-b136-37b3daea91e4 | null | null | HGNC |
|
HGNC:12607 | USP1 | ubiquitin specific peptidase 1 | protein-coding gene | gene with protein product | Approved | 1p31.3 | null | null | [
"Ubiquitin specific peptidases"
] | [
366
] | 1998-06-08 | null | 2005-08-08 | 2023-01-20 | 7398 | ENSG00000162607 | OTTHUMG00000008972 | uc001daj.3 | null | [
"NM_001017415"
] | [
"CCDS621"
] | [
"O94782"
] | [
12838346
] | [
"MGI:2385198"
] | [
"RGD:1306461"
] | null | [
"603478"
] | null | C19.019 | objectId:2428 | null | [
"3.4.19.12"
] | HGNC:12607 | [
"ENST00000339950.5",
"NM_003368.5"
] | HGNC:12607 | 591bb6a9-2148-4654-95bd-6a565f7eba46 | null | null | HGNC |
||
HGNC:23177 | KEAP1 | kelch like ECH associated protein 1 | protein-coding gene | gene with protein product | Approved | 19p13.2 | null | null | [
"Kelch like",
"BTB domain containing"
] | [
617,
861
] | 2003-09-30 | null | 2015-11-23 | 2023-01-20 | 9817 | ENSG00000079999 | OTTHUMG00000180579 | uc002mor.2 | [
"AF361886"
] | [
"NM_012289"
] | [
"CCDS12239"
] | [
"Q14145"
] | null | [
"MGI:1858732"
] | [
"RGD:621619"
] | null | [
"606016"
] | null | null | objectId:2757 | null | null | HGNC:23177 | [
"ENST00000171111.10",
"NM_203500.2"
] | HGNC:23177 | cf5bd1e5-c2a6-4408-9450-adb7a50232ce | null | null | HGNC |
||
HGNC:25675 | CHMP6 | charged multivesicular body protein 6 | protein-coding gene | gene with protein product | Approved | 17q25.3 | null | null | [
"Charged multivesicular body proteins",
"ESCRT-III"
] | [
482,
1118
] | 2005-04-04 | null | 2011-09-21 | 2023-08-02 | 79643 | ENSG00000176108 | OTTHUMG00000177645 | uc002jyw.4 | [
"BC010108"
] | [
"NM_024591"
] | [
"CCDS11774"
] | [
"Q96FZ7"
] | [
11559748,
15511219
] | [
"MGI:3583942"
] | [
"RGD:1565325"
] | null | [
"610901"
] | null | null | null | null | null | HGNC:25675 | [
"ENST00000325167.9",
"NM_024591.5"
] | null | e54cdca4-022a-4460-b389-11112c6b3016 | null | null | HGNC |
||
HGNC:29681 | SLC25A33 | solute carrier family 25 member 33 | protein-coding gene | gene with protein product | Approved | 1p36.22 | null | null | [
"Solute carrier family 25"
] | [
2176
] | 2006-09-21 | null | 2016-02-18 | 2023-01-20 | 84275 | ENSG00000171612 | OTTHUMG00000001322 | uc001apw.4 | [
"AF495714"
] | [
"NM_032315"
] | [
"CCDS103"
] | [
"Q9BSK2"
] | [
14715278,
16949250
] | [
"MGI:1917806"
] | [
"RGD:1583942"
] | null | [
"610816"
] | null | null | objectId:1084 | null | null | HGNC:29681 | [
"ENST00000302692.7",
"NM_032315.3"
] | null | 95af2e7d-6184-4790-bfd9-a69681b7a25d | null | null | HGNC |
||
HGNC:18533 | USP48 | ubiquitin specific peptidase 48 | protein-coding gene | gene with protein product | Approved | 1p36.12 | null | null | null | [
"Ubiquitin specific peptidases"
] | [
366
] | 2003-05-29 | 2004-04-07 | 2005-08-08 | 2023-03-17 | 84196 | ENSG00000090686 | OTTHUMG00000007798 | uc001bfb.4 | [
"AF502942"
] | [
"NM_032236"
] | null | [
"Q86UV5"
] | [
12838346,
15354349
] | [
"MGI:2158502"
] | [
"RGD:735213"
] | null | [
"617445"
] | null | C19.068 | null | null | null | HGNC:18533 | [
"ENST00000308271.14",
"NM_032236.8"
] | HGNC:18533 | 4e0cddea-e0fa-4bff-ab58-b3e91c8c8bb2 | null | null | HGNC |
|
HGNC:17233 | ELMO2 | engulfment and cell motility 2 | protein-coding gene | gene with protein product | Approved | 20q13.12 | null | null | [
"Engulfment and cell motility proteins"
] | [
543
] | 2001-12-13 | null | 2006-01-20 | 2023-01-20 | 63916 | ENSG00000062598 | OTTHUMG00000033070 | uc002xru.2 | [
"AF398886"
] | [
"NM_022086"
] | [
"CCDS13398",
"CCDS82623"
] | [
"Q96JJ3"
] | [
11595183
] | [
"MGI:2153045"
] | [
"RGD:1305784"
] | null | [
"606421"
] | 465,978 | null | null | null | null | HGNC:17233 | [
"ENST00000290246.11",
"NM_133171.5"
] | HGNC:17233 | 8df4ed04-328f-4ee0-a0b6-4920f02a368a | null | null | HGNC |
||
HGNC:9588 | PTEN | phosphatase and tensin homolog | protein-coding gene | gene with protein product | Approved | 10q23.31 | null | null | null | [
"C2 tensin-type domain containing",
"PTEN protein phosphatases",
"Phosphoinositide phosphatases"
] | [
837,
902,
1079
] | 1997-04-21 | null | 2008-07-31 | 2023-11-09 | 5728 | ENSG00000171862 | OTTHUMG00000018688 | uc001kfb.4 | [
"U92436"
] | [
"NM_000314"
] | [
"CCDS31238"
] | [
"P60484"
] | [
9090379
] | [
"MGI:109583"
] | [
"RGD:61995"
] | [
"LRG_311|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_311.xml"
] | [
"601728"
] | 118,128 | null | objectId:2497 | null | [
"3.1.3.16",
"3.1.3.48",
"3.1.3.67"
] | HGNC:9588 | [
"ENST00000371953.8",
"NM_000314.8"
] | HGNC:9588 | 2f0f357d-a8fd-4e42-a808-05cfa3f0cfb3 | null | null | HGNC |
|
HGNC:11998 | TP53 | tumor protein p53 | protein-coding gene | gene with protein product | Approved | 17p13.1 | null | null | null | null | 1986-01-01 | null | 2008-01-16 | 2023-01-20 | 7157 | ENSG00000141510 | OTTHUMG00000162125 | uc060aur.1 | [
"AF307851"
] | [
"NM_000546"
] | null | [
"P04637"
] | [
6396087,
3456488,
2047879
] | [
"MGI:98834"
] | [
"RGD:3889"
] | [
"IARC TP53 Mutation Database|http://www-p53.iarc.fr/",
"p53 UMD TP53 mutation database|http://p53.fr/",
"Database of Germline p53 Mutations|http://www.lf2.cuni.cz/projects/germline_mut_p53.htm",
"MUTP53LOAD, Mutant p53 Loss Of Activity Database|http://www.umd.be:2072/",
"LRG_321|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_321.xml"
] | [
"191170"
] | 120,204 | null | null | null | null | HGNC:11998 | [
"ENST00000269305.9",
"NM_000546.6"
] | HGNC:11998 | e0978285-ce58-482d-9414-dc11d3bc3c3b | null | null | HGNC |
||
HGNC:17485 | PPP2R3C | protein phosphatase 2 regulatory subunit B''gamma | protein-coding gene | gene with protein product | Approved | 14q13.2 | null | null | null | [
"Protein phosphatase 2 regulatory subunits"
] | [
696
] | 2002-11-18 | 2007-01-22 | 2017-04-05 | 2023-01-20 | 55012 | ENSG00000092020 | OTTHUMG00000140224 | uc001wss.4 | [
"AK000651"
] | [
"NM_017917"
] | [
"CCDS9654"
] | [
"Q969Q6"
] | [
12167160,
16129705
] | [
"MGI:1930009"
] | [
"RGD:1309207"
] | null | [
"615902"
] | null | null | null | null | null | HGNC:17485 | [
"ENST00000261475.10",
"NM_017917.4"
] | HGNC:17485 | 6b7d7a79-09a3-422a-9a56-c20d10926390 | null | null | HGNC |
|
HGNC:7701 | NDUFB6 | NADH:ubiquinone oxidoreductase subunit B6 | protein-coding gene | gene with protein product | Approved | 9p21.1 | null | null | null | [
"NADH:ubiquinone oxidoreductase supernumerary subunits"
] | [
1150
] | 1997-12-09 | null | 2015-11-20 | 2023-01-20 | 4712 | ENSG00000165264 | OTTHUMG00000019741 | uc003zre.3 | [
"AF035840"
] | [
"NM_002493"
] | null | [
"O95139"
] | [
9763677,
9760212
] | [
"MGI:2684983"
] | [
"RGD:1311354"
] | null | [
"603322"
] | 470,752 | null | null | null | null | HGNC:7701 | [
"ENST00000379847.8",
"NM_002493.5"
] | null | 4cfddc82-5962-49a5-82d3-cb8d62e5adba | null | null | HGNC |
|
HGNC:4163 | GART | phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase | protein-coding gene | gene with protein product | Approved | 21q22.11 | null | null | null | [
"Purinosome"
] | [
1569
] | 2001-06-22 | null | null | 2023-01-20 | 2618 | ENSG00000159131 | OTTHUMG00000065628 | uc002yry.4 | [
"M32082"
] | [
"NM_000819"
] | null | [
"P22102"
] | [
2050105
] | [
"MGI:95654"
] | [
"RGD:1308717"
] | null | [
"138440"
] | null | null | objectId:2612 | null | [
"2.1.2.2",
"6.3.3.1",
"6.3.4.13"
] | HGNC:4163 | [
"ENST00000381815.9",
"NM_000819.5"
] | null | 7ef85e44-cf43-40b3-8e18-b17e0416e3d2 | null | null | HGNC |
|
HGNC:28814 | TMCO6 | transmembrane and coiled-coil domains 6 | protein-coding gene | gene with protein product | Approved | 5q31.3 | null | [
"Armadillo like helical domain containing"
] | [
1492
] | 2006-08-21 | null | null | 2023-01-20 | 55374 | ENSG00000113119 | OTTHUMG00000129497 | uc003lgl.4 | [
"BC001910"
] | [
"NM_018502"
] | [
"CCDS4233",
"CCDS75320"
] | [
"Q96DC7"
] | [
12477932
] | [
"MGI:1919233"
] | [
"RGD:1309263"
] | null | null | null | null | null | null | null | HGNC:28814 | [
"ENST00000394671.8",
"NM_018502.5"
] | null | 1e6a4dd2-4ca2-4632-8839-db83b3150204 | null | null | HGNC |
|||
HGNC:4670 | GTPBP2 | GTP binding protein 2 | protein-coding gene | gene with protein product | Approved | 6p21.1 | null | null | 2000-07-31 | null | null | 2023-01-20 | 54676 | ENSG00000172432 | OTTHUMG00000014744 | uc003ovs.5 | [
"AB024574"
] | [
"NM_001286216"
] | null | [
"Q9BX10"
] | [
10833435,
11054535
] | [
"MGI:1860138"
] | [
"RGD:1306367"
] | null | [
"607434"
] | null | null | null | null | null | HGNC:4670 | [
"ENST00000307126.10",
"NM_019096.5"
] | HGNC:4670 | d987dbca-8e52-4dad-a8ad-1619d19550ff | null | null | HGNC |
||||
HGNC:7765 | NF1 | neurofibromin 1 | protein-coding gene | gene with protein product | Approved | 17q11.2 | null | [
"Armadillo like helical domain containing"
] | [
1492
] | 1986-01-01 | null | 2008-07-31 | 2023-01-20 | 4763 | ENSG00000196712 | OTTHUMG00000132871 | uc002hgh.3 | null | [
"NM_000267"
] | null | [
"P21359"
] | [
1715669
] | [
"MGI:97306"
] | [
"RGD:3168"
] | [
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/NF1",
"LRG_214|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_214.xml"
] | [
"613113"
] | 123,772 | null | null | null | null | HGNC:7765 | [
"ENST00000358273.9",
"NM_001042492.3"
] | HGNC:7765 | 9f7fb9b1-7284-4e41-9d37-0e153ef5b2dc | null | null | HGNC |
|||
HGNC:7880 | CNOT4 | CCR4-NOT transcription complex subunit 4 | protein-coding gene | gene with protein product | Approved | 7q33 | null | null | null | [
"Ring finger proteins",
"RNA binding motif containing",
"CCR4-NOT transcription complex"
] | [
58,
725,
1023
] | 1996-07-19 | null | 2015-11-12 | 2023-01-20 | 4850 | ENSG00000080802 | OTTHUMG00000155568 | uc003vss.4 | [
"AF180475"
] | [
"NM_013316"
] | null | [
"O95628"
] | [
10637334,
18533727
] | [
"MGI:1859026"
] | [
"RGD:1310318"
] | null | [
"604911"
] | null | null | null | null | null | HGNC:7880 | [
"ENST00000541284.6",
"NM_001190850.2"
] | null | 95a23e0d-586c-4724-aeec-0d8ee426feda | null | null | HGNC |
|
HGNC:17271 | RRAS2 | RAS related 2 | protein-coding gene | gene with protein product | Approved | 11p15.2 | null | null | [
"RAS type GTPase family"
] | [
389
] | 2001-11-30 | null | 2017-08-02 | 2023-01-20 | 22800 | ENSG00000133818 | OTTHUMG00000165756 | uc001mlf.5 | [
"M31468"
] | [
"NM_012250"
] | null | [
"P62070"
] | [
2108320,
8052619
] | [
"MGI:1914172"
] | [
"RGD:1310793"
] | null | [
"600098"
] | null | null | null | null | null | HGNC:17271 | [
"ENST00000256196.9",
"NM_012250.6"
] | HGNC:17271 | a0303add-0a84-44de-9bb9-ac6e3f62670f | null | null | HGNC |
||
HGNC:7705 | NDUFC1 | NADH:ubiquinone oxidoreductase subunit C1 | protein-coding gene | gene with protein product | Approved | 4q31.1 | null | null | null | [
"NADH:ubiquinone oxidoreductase supernumerary subunits"
] | [
1150
] | 1997-12-17 | null | 2015-11-20 | 2023-01-20 | 4717 | ENSG00000109390 | OTTHUMG00000133387 | uc021xsd.1 | [
"AF047184"
] | [
"NM_002494"
] | [
"CCDS3746"
] | [
"O43677"
] | [
9425316,
9763677
] | [
"MGI:1913627"
] | [
"RGD:1586362"
] | null | [
"603844"
] | 470,758 | null | null | null | null | HGNC:7705 | [
"ENST00000394223.2",
"NM_001184989.2"
] | null | ddb038fe-8068-4bd2-90d7-75b1782ea418 | null | null | HGNC |
|
HGNC:30536 | DMAC1 | distal membrane arm assembly component 1 | protein-coding gene | gene with protein product | Approved | 9p24.1 | null | null | null | [
"Mitochondrial respiratory chain complex assembly factors"
] | [
645
] | 2004-04-15 | 2017-06-01 | 2021-02-05 | 2023-01-20 | 90871 | ENSG00000137038 | OTTHUMG00000019539 | null | [
"BC009510"
] | [
"NM_033428"
] | [
"CCDS34989"
] | [
"Q96GE9"
] | [
21666724,
27626371
] | [
"MGI:1914178"
] | [
"RGD:1309148"
] | null | [
"617261"
] | null | null | null | null | null | HGNC:30536 | [
"ENST00000358227.5",
"NM_033428.3"
] | null | 27b562f3-2be5-4dcb-b8e0-2dfb0a19c9e3 | null | null | HGNC |
|
HGNC:25223 | COQ2 | coenzyme Q2, polyprenyltransferase | protein-coding gene | gene with protein product | Approved | 4q21.23 | null | null | null | null | null | 2005-07-05 | null | 2016-03-21 | 2023-01-20 | 27235 | ENSG00000173085 | OTTHUMG00000160940 | uc003hog.3 | null | [
"NM_015697"
] | [
"CCDS47090",
"CCDS87234"
] | [
"Q96H96"
] | [
15153069,
17332895
] | [
"MGI:1919133"
] | [
"RGD:1306722"
] | null | [
"609825"
] | 120,770 | null | null | null | [
"2.5.1.39"
] | HGNC:25223 | [
"ENST00000647002.2",
"NM_001358921.2"
] | HGNC:25223 | f0f51982-f687-496e-8be8-b6502caf9a12 | null | null | HGNC |
|
HGNC:9438 | PRKRA | protein activator of interferon induced protein kinase EIF2AK2 | protein-coding gene | gene with protein product | Approved | 2q31.2 | null | null | null | [
"RISC loading complex subunits"
] | [
1776
] | 1999-12-07 | null | 2016-01-06 | 2023-05-10 | 8575 | ENSG00000180228 | OTTHUMG00000132576 | uc002umf.3 | [
"AF072860"
] | [
"NM_003690"
] | null | [
"O75569"
] | [
9687506,
10336432
] | [
"MGI:1344375"
] | [
"RGD:1306707"
] | null | [
"603424"
] | 213,048 | null | null | null | null | HGNC:9438 | [
"ENST00000325748.9",
"NM_003690.5"
] | HGNC:9438 | 40d55a43-5513-4652-b997-ac272412633b | null | null | HGNC |
|
HGNC:3585 | FANCD2 | FA complementation group D2 | protein-coding gene | gene with protein product | Approved | 3p25.3 | null | null | null | [
"FA complementation groups",
"Armadillo like helical domain containing"
] | [
548,
1492
] | 1996-01-04 | 2001-10-05 | 2018-05-09 | 2023-01-20 | 2177 | ENSG00000144554 | OTTHUMG00000128670 | uc003buw.4 | [
"AF340183"
] | [
"NM_001018115"
] | [
"CCDS2595",
"CCDS33696"
] | [
"Q9BXW9"
] | [
7581463,
11239453,
18475298
] | [
"MGI:2448480"
] | [
"RGD:1303172"
] | [
"Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCD2",
"LRG_306|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_306.xml"
] | [
"613984"
] | 121,709 | null | null | null | null | HGNC:3585 | [
"ENST00000675286.1",
"NM_001018115.3"
] | HGNC:3585 | 3bdabdbb-31ef-43be-82f3-4a60761d76c5 | null | null | HGNC |
|
HGNC:6397 | KPNA4 | karyopherin subunit alpha 4 | protein-coding gene | gene with protein product | Approved | 3q25.33 | null | null | null | [
"Armadillo repeat containing",
"Importins"
] | [
409,
596
] | 1998-08-20 | null | 2016-02-01 | 2023-01-20 | 3840 | ENSG00000186432 | OTTHUMG00000159033 | uc003fdn.3 | [
"AB002533"
] | [
"NM_002268"
] | [
"CCDS3191"
] | [
"O00629"
] | [
9168958,
9395085
] | [
"MGI:1100848"
] | [
"RGD:1311483"
] | null | [
"602970"
] | null | null | null | null | null | HGNC:6397 | [
"ENST00000334256.9",
"NM_002268.5"
] | null | 557135d0-0184-4058-8335-5e9b10756bb4 | null | null | HGNC |
|
HGNC:9352 | PRDX1 | peroxiredoxin 1 | protein-coding gene | gene with protein product | Approved | 1p34.1 | null | null | [
"Peroxiredoxins"
] | [
953
] | 1993-11-01 | null | null | 2023-01-20 | 5052 | ENSG00000117450 | OTTHUMG00000007738 | uc001cob.4 | [
"BC021683"
] | [
"NM_181697"
] | [
"CCDS522"
] | [
"Q06830"
] | [
8496166
] | [
"MGI:99523"
] | [
"RGD:620039"
] | null | [
"176763"
] | null | null | null | null | null | HGNC:9352 | [
"ENST00000319248.13",
"NM_181697.3"
] | HGNC:9352 | dae0cb94-2fca-4a53-b287-2e4b22ee8818 | null | null | HGNC |
||
HGNC:22408 | ATG9A | autophagy related 9A | protein-coding gene | gene with protein product | Approved | 2q35 | null | null | null | [
"Autophagy related"
] | [
1022
] | 2004-11-24 | 2005-09-11 | 2012-06-06 | 2023-07-17 | 79065 | ENSG00000198925 | OTTHUMG00000154557 | uc002vkf.3 | [
"AK021732"
] | [
"NM_024085"
] | [
"CCDS42820"
] | [
"Q7Z3C6"
] | [
29180427,
33106659
] | [
"MGI:2138446"
] | [
"RGD:1310450"
] | null | [
"612204"
] | null | null | null | null | null | HGNC:22408 | [
"ENST00000361242.9",
"NM_001077198.3"
] | null | d62e0fb7-e1f4-40e7-81d3-c7079955dc74 | null | null | HGNC |
|
HGNC:1748 | CDH1 | cadherin 1 | protein-coding gene | gene with protein product | Approved | 16q22.1 | null | null | null | null | [
"CD molecules",
"Type I classical cadherins"
] | [
471,
1185
] | 1986-01-01 | null | 2016-01-15 | 2023-01-20 | 999 | ENSG00000039068 | OTTHUMG00000137561 | uc002ewg.2 | [
"L08599"
] | [
"NM_004360"
] | null | [
"P12830"
] | [
9925936
] | [
"MGI:88354"
] | [
"RGD:69279"
] | [
"LRG_301|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_301.xml"
] | [
"192090"
] | 119,276 | null | null | CD324 | null | HGNC:1748 | [
"ENST00000261769.10",
"NM_004360.5"
] | HGNC:1748 | ed200e21-6dd4-46d1-b1f1-0817b32a884c | null | [
"This entry has the approved symbol CDH1 which is also an alias symbol for the unrelated gene [FZR1](https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:24824)."
] | HGNC |
HGNC:20294 | USPL1 | ubiquitin specific peptidase like 1 | protein-coding gene | gene with protein product | Approved | 13q12.3 | null | null | null | [
"Ubiquitin specific peptidases",
"Ubiquitin specific peptidase like "
] | [
366,
988
] | 2004-04-16 | 2005-11-24 | 2005-11-24 | 2024-03-15 | 10208 | ENSG00000132952 | OTTHUMG00000016675 | uc001utc.3 | [
"X59131"
] | [
"NM_005800"
] | null | [
"Q5W0Q7"
] | [
22878415,
24413172,
35383180
] | [
"MGI:2442342"
] | [
"RGD:1310835"
] | null | [
"617470"
] | null | null | null | null | null | HGNC:20294 | [
"ENST00000255304.9",
"NM_005800.5"
] | null | 7047f585-00e3-494c-8d44-8741f897e20c | null | null | HGNC |
|
HGNC:2495 | CTBP2 | C-terminal binding protein 2 | protein-coding gene | gene with protein product | Approved | 10q26.13 | null | [
"MicroRNA protein coding host genes"
] | [
1691
] | 1997-08-22 | null | null | 2023-01-20 | 1488 | ENSG00000175029 | OTTHUMG00000019224 | uc009yal.4 | [
"AF016507"
] | [
"NM_001083914"
] | null | [
"P56545"
] | [
9479502,
11864595
] | [
"MGI:1201686"
] | [
"RGD:68372"
] | null | [
"602619"
] | null | null | null | null | null | HGNC:2495 | [
"ENST00000337195.11",
"NM_001329.4"
] | null | 86798954-841e-4a6f-aa9b-c18457e3c861 | null | null | HGNC |
|||
HGNC:5961 | IKBKG | inhibitor of nuclear factor kappa B kinase regulatory subunit gamma | protein-coding gene | gene with protein product | Approved | Xq28 | null | null | null | null | [
"Zinc fingers C2HC-type",
"IKK complex"
] | [
66,
1817
] | 1998-09-30 | null | 2019-02-14 | 2023-01-20 | 8517 | ENSG00000269335 | OTTHUMG00000024234 | uc033fbv.2 | [
"AF074382"
] | [
"NM_003639"
] | null | [
"Q9Y6K9"
] | [
9751060,
10087442,
11590134,
11242109
] | [
"MGI:1338074"
] | [
"RGD:735223"
] | [
"IKBKGbase: Mutation registry for Nemo deficiency|http://structure.bmc.lu.se/idbase/IKBKGbase/",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/IKBKG",
"LRG_70|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_70.xml"
] | [
"300248"
] | 122,614 | null | null | null | null | HGNC:5961 | [
"ENST00000594239.6",
"NM_001099857.5"
] | HGNC:5961 | aaf41256-6bd8-4f34-937c-703cc3b0719d | null | null | HGNC |
HGNC:29088 | PDS5A | PDS5 cohesin associated factor A | protein-coding gene | gene with protein product | Approved | 4p14 | null | null | [
"Armadillo like helical domain containing"
] | [
1492
] | 2007-06-20 | null | 2014-11-17 | 2023-03-15 | 23244 | ENSG00000121892 | OTTHUMG00000160582 | uc003guv.4 | [
"AF294791"
] | [
"NM_015200"
] | [
"CCDS47045",
"CCDS54759"
] | [
"Q29RF7"
] | [
11076961,
15855230,
24141881
] | [
"MGI:1918771"
] | [
"RGD:1307094"
] | null | [
"613200"
] | 470,848 | null | null | null | null | HGNC:29088 | [
"ENST00000303538.13",
"NM_001100399.2"
] | null | 57a892dc-5464-4cfc-9924-2e9b7c5fec92 | null | null | HGNC |
||
HGNC:3581 | BPTF | bromodomain PHD finger transcription factor | protein-coding gene | gene with protein product | Approved | 17q24.2 | null | null | null | [
"PHD finger proteins",
"Bromodomain containing",
"NURF complex"
] | [
88,
1232,
1363
] | 1996-10-30 | 2006-12-01 | 2006-12-01 | 2023-01-20 | 2186 | ENSG00000171634 | OTTHUMG00000132254 | uc002jgf.4 | [
"AY282495"
] | [
"NM_182641",
"NM_004459"
] | [
"CCDS11673"
] | [
"Q12830"
] | [
8975731,
10662542,
16728976
] | [
"MGI:2444008"
] | [
"RGD:1307039"
] | null | [
"601819"
] | null | null | objectId:2723 | null | null | HGNC:3581 | [
"ENST00000306378.11",
"NM_182641.4"
] | HGNC:3581 | 2c7f1ac2-490e-47bc-a10e-e6c97401abd2 | null | null | HGNC |
|
HGNC:20473 | BRIP1 | BRCA1 interacting DNA helicase 1 | protein-coding gene | gene with protein product | Approved | 17q23.2 | null | null | null | [
"DEAH-box helicases",
"FA complementation groups",
"BRCA1 B complex"
] | [
500,
548,
1335
] | 2003-04-11 | null | 2024-09-05 | 2024-09-05 | 83990 | ENSG00000136492 | OTTHUMG00000179233 | uc002izk.3 | [
"AF360549"
] | [
"NM_032043"
] | [
"CCDS11631"
] | [
"Q9BX63"
] | [
11595410,
11301010
] | [
"MGI:2442836"
] | [
"RGD:1307659"
] | [
"Fanconi Anaemia Mutation Database|http://www2.rockefeller.edu/fanconi/",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/FANCJ",
"LRG_300|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_300.xml"
] | [
"605882"
] | 119,080 | null | null | null | null | HGNC:20473 | [
"ENST00000259008.7",
"NM_032043.3"
] | HGNC:20473 | 4d16db18-b95a-4dd5-b3fe-843c20923303 | null | [
"This entry has the alias symbol BACH1 which is also the approved symbol for the unrelated gene [BACH1](https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:935)"
] | HGNC |
|
HGNC:16356 | USH1G | USH1 protein network component sans | protein-coding gene | gene with protein product | Approved | 17q25.1 | null | null | [
"Ankyrin repeat domain containing",
"Sterile alpha motif domain containing"
] | [
403,
760
] | 2001-12-07 | null | 2016-02-17 | 2023-01-20 | 124590 | ENSG00000182040 | OTTHUMG00000178864 | uc032fra.2 | [
"AK091243"
] | [
"NM_173477"
] | [
"CCDS32725"
] | [
"Q495M9"
] | [
12588794
] | [
"MGI:2450757"
] | [
"RGD:1304551"
] | [
"CCHMC-BMI & UC Hearing Loss Mutation Database|https://research.cchmc.org/LOVD/home.php?select_db=USH1G",
"LRG_1416|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1416.xml"
] | [
"607696"
] | 120,442 | null | null | null | null | HGNC:16356 | [
"ENST00000614341.5",
"NM_173477.5"
] | HGNC:16356 | 9b1a4f34-dce9-4875-9191-cf024111b5c9 | null | null | HGNC |
||
HGNC:25522 | WRAP53 | WD repeat containing antisense to TP53 | protein-coding gene | gene with protein product | Approved | 17p13.1 | null | null | null | null | [
"WD repeat domain containing"
] | [
362
] | 2005-08-12 | 2009-02-16 | 2016-04-25 | 2023-01-20 | 55135 | ENSG00000141499 | OTTHUMG00000134323 | uc010vuh.2 | [
"AK001247",
"DQ431240"
] | [
"NM_018081"
] | [
"CCDS11119"
] | [
"Q9BUR4"
] | [
19179534,
19250907,
19571673,
19342896,
20494116,
21441950
] | [
"MGI:2384933"
] | [
"RGD:1359624"
] | [
"LRG_375|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_375.xml"
] | [
"612661"
] | 266,162 | null | null | null | null | HGNC:25522 | [
"ENST00000396463.7",
"NM_001143992.2"
] | HGNC:25522 | 956e0fc3-76d8-4b08-b166-94ce7b8b1b7b | null | null | HGNC |
HGNC:10681 | SDHB | succinate dehydrogenase complex iron sulfur subunit B | protein-coding gene | gene with protein product | Approved | 1p36.13 | null | null | null | [
"Mitochondrial complex II: succinate dehydrogenase subunits"
] | [
641
] | 2001-06-22 | null | 2016-01-28 | 2023-01-20 | 6390 | ENSG00000117118 | OTTHUMG00000002289 | uc001bae.5 | [
"U17248"
] | [
"NM_003000"
] | [
"CCDS176"
] | [
"P21912"
] | null | [
"MGI:1914930"
] | [
"RGD:1308598"
] | [
"SDHB @ LOVD|http://www.LOVD.nl/SDHB",
"Global Variome shared LOVD|https://databases.lovd.nl/shared/genes/SDHB",
"LRG_316|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_316.xml"
] | [
"185470"
] | 118,554 | null | null | null | [
"1.3.99.1"
] | HGNC:10681 | [
"ENST00000375499.8",
"NM_003000.3"
] | HGNC:10681 | ec70da14-9860-4a86-a9ff-cb8c76134b63 | null | null | HGNC |
|
HGNC:25009 | UBE2T | ubiquitin conjugating enzyme E2 T | protein-coding gene | gene with protein product | Approved | 1q32.1 | null | null | [
"Ubiquitin conjugating enzymes E2",
"FA complementation groups"
] | [
102,
548
] | 2005-03-21 | null | 2016-03-14 | 2023-01-20 | 29089 | ENSG00000077152 | OTTHUMG00000041392 | uc001gxx.5 | [
"AF161499"
] | [
"NM_014176"
] | [
"CCDS1425"
] | [
"Q9NPD8"
] | [
11042152,
16916645,
26046368
] | [
"MGI:1914446"
] | [
"RGD:1310816"
] | [
"LRG_1169|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_1169.xml"
] | [
"610538"
] | 432,157 | null | null | null | null | HGNC:25009 | [
"ENST00000646651.1",
"NM_014176.4"
] | HGNC:25009 | 61086eaa-b2c9-481d-9e82-e2453928b135 | null | null | HGNC |
||
HGNC:30064 | PBRM1 | polybromo 1 | protein-coding gene | gene with protein product | Approved | 3p21.1 | null | [
"Bromodomain containing",
"PBAF complex subunits"
] | [
1232,
1605
] | 2007-03-29 | null | null | 2023-01-20 | 55193 | ENSG00000163939 | OTTHUMG00000152663 | uc003des.3 | [
"BC015323"
] | [
"NM_018165"
] | null | [
"Q86U86"
] | [
11078522,
11483580
] | [
"MGI:1923998"
] | [
"RGD:1565549"
] | null | [
"606083"
] | 434,716 | null | objectId:2738 | null | null | HGNC:30064 | [
"ENST00000707071.1",
"NM_001405607.1"
] | null | a7a5adfd-bb04-4454-9bae-abcb2d299e18 | null | null | HGNC |
|||
HGNC:30298 | UIMC1 | ubiquitin interaction motif containing 1 | protein-coding gene | gene with protein product | Approved | 5q35.2 | null | null | [
"BRCA1 A complex"
] | [
1328
] | 2006-10-27 | null | null | 2023-01-20 | 51720 | ENSG00000087206 | OTTHUMG00000130852 | uc063kao.1 | [
"AF349313"
] | [
"NM_016290"
] | [
"CCDS4408",
"CCDS83050"
] | [
"Q96RL1"
] | [
12080054,
19015238
] | [
"MGI:103185"
] | [
"RGD:1307009"
] | null | [
"609433"
] | null | null | null | null | null | HGNC:30298 | [
"ENST00000511320.6",
"NM_001199298.2"
] | HGNC:30298 | c65f2545-628a-4b28-957d-c2ad01415dc4 | null | null | HGNC |
||
HGNC:25628 | DDX19A | DEAD-box helicase 19A | protein-coding gene | gene with protein product | Approved | 16q22.1 | null | null | null | [
"DEAD-box helicases"
] | [
499
] | 2004-11-03 | 2005-07-13 | 2016-01-07 | 2023-01-20 | 55308 | ENSG00000168872 | OTTHUMG00000137579 | uc002eyv.4 | [
"AF183422"
] | [
"NM_018332"
] | [
"CCDS10889",
"CCDS82009"
] | [
"Q9NUU7"
] | [
26538395
] | [
"MGI:99526"
] | [
"RGD:1303136"
] | null | null | null | null | null | null | null | HGNC:25628 | [
"ENST00000302243.12",
"NM_018332.5"
] | null | bbecc48f-1c66-4a76-a364-f1a2152f9faf | null | null | HGNC |
|
HGNC:18037 | ARID2 | AT-rich interaction domain 2 | protein-coding gene | gene with protein product | Approved | 12q12 | null | null | [
"AT-rich interaction domain containing",
"Armadillo like helical domain containing",
"PBAF complex subunits"
] | [
418,
1492,
1605
] | 2004-01-28 | null | 2015-11-17 | 2023-07-12 | 196528 | ENSG00000189079 | OTTHUMG00000150487 | uc001ros.2 | [
"DQ096628"
] | [
"NM_152641"
] | [
"CCDS31783"
] | [
"Q68CP9"
] | [
16782067,
21822264,
22184115
] | [
"MGI:1924294"
] | [
"RGD:1311105"
] | null | [
"609539"
] | 469,962 | null | null | null | null | HGNC:18037 | [
"ENST00000334344.11",
"NM_152641.4"
] | HGNC:18037 | 3424ec6a-36b4-40b5-bb03-75313a4fc445 | null | null | HGNC |
||
HGNC:15531 | EBNA1BP2 | EBNA1 binding protein 2 | protein-coding gene | gene with protein product | Approved | 1p34.2 | null | null | [
"MicroRNA protein coding host genes"
] | [
1691
] | 2001-10-16 | null | 2001-11-28 | 2023-01-20 | 10969 | ENSG00000117395 | OTTHUMG00000007284 | uc001cin.4 | [
"U86602"
] | [
"NM_001159936"
] | [
"CCDS478",
"CCDS53308"
] | [
"Q99848"
] | [
10074103,
11438656
] | [
"MGI:1916322"
] | [
"RGD:1305762"
] | null | [
"614443"
] | null | null | null | null | null | HGNC:15531 | [
"ENST00000236051.3",
"NM_006824.3"
] | null | f1c19122-8546-4bba-9a35-b0e64c780cff | null | null | HGNC |
||
HGNC:950 | BAP1 | BRCA1 associated deubiquitinase 1 | protein-coding gene | gene with protein product | Approved | 3p21.1 | null | null | null | [
"Ubiquitin C-terminal hydrolases"
] | [
998
] | 1998-09-17 | null | 2024-07-04 | 2024-07-04 | 8314 | ENSG00000163930 | OTTHUMG00000158392 | uc003ddx.5 | [
"AF045581"
] | [
"NM_001410772"
] | [
"CCDS2853",
"CCDS93284"
] | [
"Q92560"
] | [
9528852,
19117993,
37009801
] | [
"MGI:1206586"
] | [
"RGD:1311938"
] | [
"LRG_529|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_529.xml"
] | [
"603089"
] | 289,543 | C12.004 | objectId:2332 | null | [
"3.4.19.12"
] | HGNC:950 | [
"ENST00000460680.6",
"NM_004656.4"
] | HGNC:950 | 7892f77f-9288-4878-86e0-14be27a6981c | null | [
"This entry has the approved symbol BAP1 which is also an alias symbol for the unrelated genes [MAGI1](https://genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:946) and [RNF2](https://genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10061)"
] | HGNC |
|
HGNC:18380 | BZW1 | basic leucine zipper and W2 domains 1 | protein-coding gene | gene with protein product | Approved | 2q33.1 | null | null | null | null | 2002-08-05 | null | null | 2023-01-20 | 9689 | ENSG00000082153 | OTTHUMG00000154560 | uc002uwc.4 | [
"D13630"
] | [
"NM_014670"
] | null | [
"Q7L1Q6"
] | [
10964520,
11524015,
27325740,
29470543
] | [
"MGI:1914132"
] | [
"RGD:735129"
] | null | [
"619252"
] | null | null | null | null | null | HGNC:18380 | [
"ENST00000409600.6",
"NM_001207067.2"
] | null | 4dafb471-6cd6-4393-b1f0-247bcfb8221c | null | null | HGNC |
||
HGNC:13516 | BIRC6 | baculoviral IAP repeat containing 6 | protein-coding gene | gene with protein product | Approved | 2p22.3 | null | null | null | [
"Ubiquitin conjugating enzymes E2",
"Baculoviral IAP repeat containing",
"MicroRNA protein coding host genes"
] | [
102,
419,
1691
] | 2000-09-19 | null | 2011-01-25 | 2023-01-20 | 57448 | ENSG00000115760 | OTTHUMG00000150528 | uc010ezu.4 | [
"AF265555"
] | [
"NM_016252"
] | [
"CCDS33175"
] | [
"Q9NR09"
] | [
10544019
] | [
"MGI:1276108"
] | [
"RGD:1307247"
] | null | [
"605638"
] | null | I32.006 | objectId:2796 | null | null | HGNC:13516 | [
"ENST00000421745.7",
"NM_016252.4"
] | null | 2f1f1ebe-bf06-4ac2-89d7-34fc2c1ee83b | null | null | HGNC |
|
HGNC:18329 | YPEL5 | yippee like 5 | protein-coding gene | gene with protein product | Approved | 2p23.1 | null | null | [
"Yippee like family"
] | [
1130
] | 2004-06-28 | null | 2015-11-05 | 2023-01-20 | 51646 | ENSG00000119801 | OTTHUMG00000097839 | uc002rna.5 | [
"AF135161"
] | [
"NM_016061"
] | [
"CCDS1771"
] | [
"P62699"
] | [
15556292
] | [
"MGI:1916937"
] | [
"RGD:1309657"
] | null | [
"609726"
] | null | null | null | null | null | HGNC:18329 | [
"ENST00000261353.9",
"NM_016061.3"
] | null | aa2a0171-72f1-40aa-a49c-f7d8352b96a0 | null | null | HGNC |
||
HGNC:18752 | MAPKAP1 | MAPK associated protein 1 | protein-coding gene | gene with protein product | Approved | 9q33.3 | null | null | null | [
"MTOR complex 2"
] | [
1333
] | 2002-07-19 | null | 2019-04-12 | 2023-01-20 | 79109 | ENSG00000119487 | OTTHUMG00000020683 | uc004bpv.3 | [
"M37191"
] | [
"NM_001006617"
] | null | [
"Q9BPZ7"
] | [
15363842
] | [
"MGI:2444554"
] | [
"RGD:1305363"
] | null | [
"610558"
] | null | null | null | null | null | HGNC:18752 | [
"ENST00000265960.8",
"NM_001006617.3"
] | null | 02f8804d-e59d-4231-9bf9-53a26e06191c | null | null | HGNC |
|
HGNC:2867 | DHODH | dihydroorotate dehydrogenase (quinone) | protein-coding gene | gene with protein product | Approved | 16q22.2 | null | [
"Flavoproteins"
] | [
2258
] | 1993-06-29 | null | 2011-09-05 | 2023-01-20 | 1723 | ENSG00000102967 | OTTHUMG00000178093 | uc002fbp.4 | null | [
"NM_001361"
] | [
"CCDS42192"
] | [
"Q02127"
] | [
8211381
] | [
"MGI:1928378"
] | [
"RGD:68352"
] | null | [
"126064"
] | 225,386 | null | objectId:2604 | null | [
"1.3.5.2"
] | HGNC:2867 | [
"ENST00000219240.9",
"NM_001361.5"
] | HGNC:2867 | e902248d-33d9-4655-a763-3860521e0c4e | null | null | HGNC |
|||
HGNC:28349 | RMI2 | RecQ mediated genome instability 2 | protein-coding gene | gene with protein product | Approved | 16p13.13 | null | null | null | null | null | 2006-07-04 | 2011-06-09 | 2013-06-10 | 2023-01-20 | 116028 | ENSG00000175643 | OTTHUMG00000129793 | uc059quq.1 | [
"AK123764"
] | [
"NM_152308"
] | [
"CCDS10548"
] | [
"Q96E14"
] | [
18923083,
20826341
] | [
"MGI:2685383"
] | [
"RGD:1563163"
] | null | [
"612426"
] | null | null | null | null | null | HGNC:28349 | [
"ENST00000312499.6",
"NM_152308.3"
] | null | 5e23b446-d355-4a95-9899-faadd6fefcce | null | null | HGNC |
|
HGNC:11427 | STUB1 | STIP1 homology and U-box containing protein 1 | protein-coding gene | gene with protein product | Approved | 16p13.3 | null | [
"U-box domain containing",
"Tetratricopeptide repeat domain containing"
] | [
365,
769
] | 1999-11-25 | null | 2016-03-23 | 2023-01-20 | 10273 | ENSG00000103266 | OTTHUMG00000121140 | uc002cit.4 | [
"AF039689"
] | [
"NM_005861"
] | [
"CCDS10419",
"CCDS76797"
] | [
"Q9UNE7"
] | [
10330192,
9610721
] | [
"MGI:1891731"
] | [
"RGD:1306167"
] | null | [
"607207"
] | 395,106 | null | objectId:3202 | null | null | HGNC:11427 | [
"ENST00000219548.9",
"NM_005861.4"
] | HGNC:11427 | e3e1e1d8-561d-493b-af33-857043aa16dc | null | null | HGNC |
|||
HGNC:7773 | NF2 | NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor | protein-coding gene | gene with protein product | Approved | 22q12.2 | null | null | null | [
"A-kinase anchoring proteins",
"FERM domain containing"
] | [
396,
1293
] | 1992-01-01 | null | 2021-10-07 | 2023-03-15 | 4771 | ENSG00000186575 | OTTHUMG00000030727 | uc003age.5 | [
"L11353"
] | [
"NM_000268"
] | null | [
"P35240"
] | [
10591208
] | [
"MGI:97307"
] | [
"RGD:3169"
] | [
"Neurofibromatosis 2 (NF2) mutation database|http://www.hgmd.cf.ac.uk/nf2/",
"LRG_511|http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_511.xml"
] | [
"607379"
] | 123,774 | null | null | null | null | HGNC:7773 | [
"ENST00000338641.10",
"NM_000268.4"
] | HGNC:7773 | c1330781-7b55-4cd0-9aee-402272bb9d0f | null | null | HGNC |
Dataset Purpose
This dataset provides a mapping table of gene identifiers and metadata, consolidating information from major bioinformatics resources like HGNC, ENSEMBL, NCBI, and IUPHAR. It is optimized for cross-referencing and querying gene-related data in tasks such as synthetic lethality studies and bioinformatics workflows.
Key Usage
- Primary Identifier: Use
gene_symbol
for lookups and integrations. - Provenance Tracking: Refer to the
metadata_source
column for data origins. - Timeline Analysis: Leverage standardized date columns for temporal insights.
Dataset Structure
The dataset contains the following fields, each of which is essential for understanding the synthetic lethal interactions and genetic relationships in cancer:
Field Name | Description |
---|---|
hgnc_id | HGNC ID. A unique ID created by the HGNC for every approved symbol. |
gene_symbol | The HGNC approved gene symbol. Equates to the "Approved symbol" field within the gene symbol report. |
name | HGNC approved name for the gene. Equates to the "Approved name" field within the gene symbol report. |
locus_group | A group name for a set of related locus types as defined by the HGNC (e.g. non-coding RNA). |
locus_type | The locus type as set by the HGNC. |
status | Status of the symbol report, which can be either "Approved" or "Entry Withdrawn". |
location | Cytogenetic location of the gene (e.g. 2q34). |
alias_symbol | Other symbols used to refer to this gene as seen in the "Alias symbols" field in the gene symbol report. |
alias_name | Other names used to refer to this gene as seen in the "Alias names" field in the gene symbol report. |
prev_symbol | Gene symbols previously approved by the HGNC for this gene. Equates to the "Previous symbols" field within the gene symbol report. |
prev_name | Gene names previously approved by the HGNC for this gene. Equates to the "Previous names" field within the gene symbol report. |
gene_group | The gene group name as set by the HGNC and seen at the top of the gene group reports. |
gene_group_id | ID used to designate a gene group the gene has been assigned to. |
date_approved_reserved | The date the entry was first approved. |
date_symbol_changed | The date the approved symbol was last changed. |
date_name_changed | The date the approved name was last changed. |
date_modified | Date the entry was last modified. |
entrez_id | NCBI gene ID. Found within the "Gene resources" section of the gene symbol report. |
ensembl_gene_id | Ensembl gene ID. Found within the "Gene resources" section of the gene symbol report. |
vega_id | Vega gene ID. Found within the "Gene resources" section of the gene symbol report. |
ucsc_id | UCSC gene ID. Found within the "Gene resources" section of the gene symbol report. |
ena | International Nucleotide Sequence Database Collaboration (GenBank, ENA and DDBJ) accession number(s). Found within the "Nucleotide resources" section of the gene symbol report. |
refseq_accession | RefSeq nucleotide accession(s). Found within the "Nucleotide resources" section of the gene symbol report. |
ccds_id | Consensus CDS ID. Found within the "Nucleotide resources" section of the gene symbol report. |
uniprot_ids | UniProt protein accession. Found within the "Protein resource" section of the gene symbol report. |
pubmed_id | Pubmed and Europe Pubmed Central PMID(s). |
mgd_id | Mouse genome informatics database ID. Found within the "Homologs" section of the gene symbol report. |
rgd_id | Rat genome database gene ID. Found within the "Homologs" section of the gene symbol report. |
lsdb | The name of the Locus Specific Mutation Database and URL for the gene. |
omim_id | Online Mendelian Inheritance in Man (OMIM) ID |
orphanet | Orphanet ID |
merops | ID used to link to the MEROPS peptidase database |
iuphar | The objectId used to link to the IUPHAR/BPS Guide to PHARMACOLOGY database. |
cd | Symbol used within the Human Cell Differentiation Molecule database for the gene |
enzyme_id | ENZYME EC accession number |
agr | The HGNC ID that the Alliance of Genome Resources (AGR) have linked to their record of the gene. |
mane_select | NCBI and Ensembl transcript IDs/acessions including the version number for one high-quality representative transcript per protein-coding gene. |
gencc | The HGNC ID used within the GenCC database as the unique identifier of their gene reports within the GenCC database. |
uuid | Unique identifier (not in original description, but present in the JSON list) |
rna_central_id | RNA Central ID (not in original description, but present in the JSON list) |
curator_notes | Curator notes (not in original description, but present in the JSON list) |
metadata_source | source of the metadata |
Citation
Please cite the original dataset using the following format:
BibTeX:
@article{10.1093/nar/gkac888,
author = {Seal, Ruth L and Braschi, Bryony and Gray, Kristian and Jones, Tamsin E M and Tweedie, Susan and Haim-Vilmovsky, Liora and Bruford, Elspeth A},
title = "{Genenames.org: the HGNC resources in 2023}",
journal = {Nucleic Acids Research},
volume = {51},
number = {D1},
pages = {D1003-D1009},
year = {2022},
month = {10},
abstract = "{The HUGO Gene Nomenclature Committee (HGNC) assigns unique symbols and names to human genes. The HGNC database (www.genenames.org) currently contains over 43 000 approved gene symbols, over 19 200 of which are assigned to protein-coding genes, 14 000 to pseudogenes and nearly 9000 to non-coding RNA genes. The public website, www.genenames.org, displays all approved nomenclature within Symbol Reports that contain data curated by HGNC nomenclature advisors and links to related genomic, clinical, and proteomic information. Here, we describe updates to our resource, including improvements to our search facility and new download features.}",
issn = {0305-1048},
doi = {10.1093/nar/gkac888},
url = {https://doi.org/10.1093/nar/gkac888},
eprint = {https://academic.oup.com/nar/article-pdf/51/D1/D1003/48441239/gkac888.pdf},
}
Dataset Card Authors
- Author: dwb2023
Dataset Card Contact
- Contact: dwb2023
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