基因ID | taxid | GeneDate LocusTag | Symbol Synonyms | Symbolfna Fullnamefna | dbXrefs | chromosome maplocation | description | genetype fnastatus | Otherdesignations | Featuretype |
1659 | 9606 | 20220513 | DHX8 DDX8|Dhr2|HRH1|PRP22|PRPF22 | DHX8 DEAH-box helicase 8 | MIM:600396|HGNC:HGNC:2749|Ensembl:ENSG00000067596|AllianceGenome:HGNC:2749 | 17 17q21.31 | DEAH-box helicase 8 | protein-coding O | ATP-dependent RNA helicase DHX8|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)|DEAH (Asp-Glu-Ala-His) box polypeptide 8|DEAH box protein 8|RNA helicase HRH1 | |
1660 | 9606 | 20220707 | DHX9 DDX9|LKP|NDH2|NDHII|RHA | DHX9 DExH-box helicase 9 | MIM:603115|HGNC:HGNC:2750|Ensembl:ENSG00000135829|AllianceGenome:HGNC:2750 | 1 1q25.3 | DExH-box helicase 9 | protein-coding O | ATP-dependent RNA helicase A|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9|DEAH (Asp-Glu-Ala-His) box helicase 9|DEAH (Asp-Glu-Ala-His) box polypeptide 9|DEAH box protein 9|DEAH-box helicase 9|RNA helicase A|leukophysin|nuclear DNA helicase II | |
1661 | 9606 | 20220513 | DHX9P1 DDX9P|DHX9P | DHX9P1 DEAH-box helicase 9 pseudogene 1 | HGNC:HGNC:2751|AllianceGenome:HGNC:2751 | 13 13q22.3 | DEAH-box helicase 9 pseudogene 1 | pseudo O | DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A) pseudogene|DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene 1 | |
1662 | 9606 | 20220703 | DDX10 Dbp4|HRH-J8 | DDX10 DEAD-box helicase 10 | MIM:601235|HGNC:HGNC:2735|Ensembl:ENSG00000178105|AllianceGenome:HGNC:2735 | 11 11q22.3 | DEAD-box helicase 10 | protein-coding O | probable ATP-dependent RNA helicase DDX10|DDX10-NUP98 fusion protein type 2|DEAD (Asp-Glu-Ala-Asp) box polypeptide 10|DEAD box protein 10|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase) | |
1663 | 9606 | 20220513 | DDX11 CHL1|CHLR1|KRG2|WABS | DDX11 DEAD/H-box helicase 11 | MIM:601150|HGNC:HGNC:2736|Ensembl:ENSG00000013573|AllianceGenome:HGNC:2736 | 12 12p11.21 | DEAD/H-box helicase 11 | protein-coding O | ATP-dependent DNA helicase DDX11|CHL1-like helicase homolog|CHL1-related helicase gene-1|CHL1-related protein 1|DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (CHL1-like helicase homolog, S. cerevisiae)|DEAD/H box protein 11|KRG-2|hCHLR1|keratinocyte growth factor-regulated gene 2 protein|probable ATP-dependent DNA helicase DDX11|probable ATP-dependent RNA helicase DDX11 | |
1665 | 9606 | 20220703 | DHX15 DBP1|DDX15|PRP43|PRPF43|PrPp43p|hPrp43 | DHX15 DEAH-box helicase 15 | MIM:603403|HGNC:HGNC:2738|Ensembl:ENSG00000109606|AllianceGenome:HGNC:2738 | 4 4p15.2 | DEAH-box helicase 15 | protein-coding O | ATP-dependent RNA helicase DHX15|ATP-dependent RNA helicase #46|DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15|DEAD/H box-15|DEAH (Asp-Glu-Ala-His) box helicase 15|DEAH (Asp-Glu-Ala-His) box polypeptide 15|DEAH box protein 15|RNA helicase 2|pre-mRNA-splicing factor ATP-dependent RNA helicase DHX15|putative pre-mRNA-splicing factor ATP-dependent RNA helicase DHX15|splicing factor Prp43 | |
1666 | 9606 | 20220513 | DECR1 DECR|NADPH|SDR18C1 | DECR1 2,4-dienoyl-CoA reductase 1 | MIM:222745|HGNC:HGNC:2753|Ensembl:ENSG00000104325|AllianceGenome:HGNC:2753 | 8 8q21.3 | 2,4-dienoyl-CoA reductase 1 | protein-coding O | 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing], mitochondrial|2,4-dienoyl-CoA reductase 1, mitochondrial|2,4-dienoyl-CoA reductase, mitochondrial|4-enoyl-CoA reductase|short chain dehydrogenase/reductase family 18C member 1 | |
1667 | 9606 | 20220703 | DEFA1 DEF1|DEFA2|HNP-1|HP-1|HP1|MRS | DEFA1 defensin alpha 1 | MIM:125220|HGNC:HGNC:2761|Ensembl:ENSG00000206047|AllianceGenome:HGNC:2761 | 8 8p23.1 | defensin alpha 1 | protein-coding O | neutrophil defensin 1|defensin, alpha 1, myeloid-related sequence|defensin, alpha 2|myeloid-related sequence | |
1668 | 9606 | 20220513 | DEFA3 DEF3|HNP-3|HNP3|HP-3|HP3 | DEFA3 defensin alpha 3 | MIM:604522|HGNC:HGNC:2762|Ensembl:ENSG00000239839|AllianceGenome:HGNC:2762 | 8 8p23.1 | defensin alpha 3 | protein-coding O | neutrophil defensin 3|defensin 3, neutrophil-specific|defensin, alpha 3, neutrophil-specific|neutrophil peptide 3 | |
1669 | 9606 | 20220528 | DEFA4 DEF4|HNP-4|HP-4|HP4 | DEFA4 defensin alpha 4 | MIM:601157|HGNC:HGNC:2763|Ensembl:ENSG00000164821|AllianceGenome:HGNC:2763 | 8 8p23.1 | defensin alpha 4 | protein-coding O | defensin alpha 4|corticostatin|corticostatin HP-4|defensin, alpha 4, corticostatin|defensin, alpha 4, preproprotein|neutrophil defensin 4 | |
1670 | 9606 | 20220612 | DEFA5 DEF5|HD-5 | DEFA5 defensin alpha 5 | MIM:600472|HGNC:HGNC:2764|Ensembl:ENSG00000164816|AllianceGenome:HGNC:2764 | 8 8p23.1 | defensin alpha 5 | protein-coding O | defensin-5|HD5(20-94)|defensin, alpha 5, Paneth cell-specific|defensin, alpha 5, preproprotein | |
1671 | 9606 | 20220522 | DEFA6 DEF6|HD-6 | DEFA6 defensin alpha 6 | MIM:600471|HGNC:HGNC:2765|Ensembl:ENSG00000164822|AllianceGenome:HGNC:2765 | 8 8p23.1 | defensin alpha 6 | protein-coding O | defensin-6|defensin, alpha 6, Paneth cell-specific | |
1672 | 9606 | 20220612 | DEFB1 BD1|DEFB-1|DEFB101|HBD1 | DEFB1 defensin beta 1 | MIM:602056|HGNC:HGNC:2766|Ensembl:ENSG00000164825|AllianceGenome:HGNC:2766 | 8 8p23.1 | defensin beta 1 | protein-coding O | beta-defensin 1|BD-1 | |
1673 | 9606 | 20220522 | DEFB4A BD-2|DEFB-2|DEFB102|DEFB2|DEFB4|HBD-2|SAP1 | DEFB4A defensin beta 4A | MIM:602215|HGNC:HGNC:2767|Ensembl:ENSG00000171711|AllianceGenome:HGNC:2767 | 8 8p23.1 | defensin beta 4A | protein-coding O | beta-defensin 4A|beta defensin-2|defensin, beta 2|defensin, beta 4|skin-antimicrobial peptide 1 | |
1674 | 9606 | 20220529 | DES CDCD3|CSM1|CSM2|LGMD1D|LGMD1E|LGMD2R | DES desmin | MIM:125660|HGNC:HGNC:2770|Ensembl:ENSG00000175084|AllianceGenome:HGNC:2770 | 2 2q35 | desmin | protein-coding O | desmin|cardiomyopathy, dilated 1F (autosomal dominant)|epididymis secretory sperm binding protein|intermediate filament protein | |
1675 | 9606 | 20220529 | CFD ADIPSIN|ADN|DF|PFD | CFD complement factor D | MIM:134350|HGNC:HGNC:2771|Ensembl:ENSG00000197766|AllianceGenome:HGNC:2771 | 19 19p13.3 | complement factor D | protein-coding O | complement factor D|C3 convertase activator|D component of complement (adipsin)|complement factor D preproprotein|properdin factor D | |
1676 | 9606 | 20220707 | DFFA DFF-45|DFF1|ICAD | DFFA DNA fragmentation factor subunit alpha | MIM:601882|HGNC:HGNC:2772|Ensembl:ENSG00000160049|AllianceGenome:HGNC:2772 | 1 1p36.22 | DNA fragmentation factor subunit alpha | protein-coding O | DNA fragmentation factor subunit alpha|DFF45|DNA fragmentation factor 45 kDa subunit|DNA fragmentation factor, 45kDa, alpha polypeptide|inhibitor of CAD | |
1677 | 9606 | 20220522 | DFFB CAD|CPAN|DFF-40|DFF2|DFF40 | DFFB DNA fragmentation factor subunit beta | MIM:601883|HGNC:HGNC:2773|Ensembl:ENSG00000169598|AllianceGenome:HGNC:2773 | 1 1p36.32 | DNA fragmentation factor subunit beta | protein-coding O | DNA fragmentation factor subunit beta|DNA fragmentation factor 40 kDa subunit|DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)|caspase-activated DNase|caspase-activated deoxyribonuclease|caspase-activated nuclease | |
1678 | 9606 | 20220522 | TIMM8A DDP|DDP1|DFN1|MTS|TIM8 | TIMM8A translocase of inner mitochondrial membrane 8A | MIM:300356|HGNC:HGNC:11817|Ensembl:ENSG00000126953|AllianceGenome:HGNC:11817 | X Xq22.1 | translocase of inner mitochondrial membrane 8A | protein-coding O | mitochondrial import inner membrane translocase subunit Tim8 A|X-linked deafness dystonia protein|deafness dystonia protein 1|deafness/dystonia peptide|translocase of inner mitochondrial membrane 8 homolog A | |
1680 | 9606 | 20191002 | DFNX3 DFN4 | MIM:300030 | X Xp21.2 | deafness, X-linked 3 | unknown | deafness 4, congenital sensorineural | ||
1687 | 9606 | 20220703 | GSDME DFNA5|ICERE-1 | GSDME gasdermin E | MIM:608798|HGNC:HGNC:2810|Ensembl:ENSG00000105928|AllianceGenome:HGNC:2810 | 7 7p15.3 | gasdermin E | protein-coding O | gasdermin-E|DFNA5, deafness associated tumor suppressor|inversely correlated with estrogen receptor expression 1|non-syndromic hearing impairment protein 5|nonsyndromic hearing impairment protein | |
1689 | 9606 | 20191002 | DFNA7 | MIM:601412 | 1 1q21-q23 | deafness, autosomal dominant 7 | unknown | |||
1690 | 9606 | 20220619 | COCH COCH-5B2|COCH5B2|DFNA9|DFNB110 | COCH cochlin | MIM:603196|HGNC:HGNC:2180|Ensembl:ENSG00000100473|AllianceGenome:HGNC:2180 | 14 14q12 | cochlin | protein-coding O | cochlin|coagulation factor C homolog, cochlin (Limulus polyphemus) | |
1694 | 9606 | 20191002 | DFNA16 | MIM:603964 | 2 2q24 | deafness, autosomal dominant 16 | unknown | |||
1697 | 9606 | 20191002 | DFNB5 | MIM:600792 | 14 14q12 | deafness, autosomal recessive 5 | unknown | |||
1705 | 9606 | 20191002 | DFNB13 | MIM:603098 | 7 7q34-q36 | deafness, autosomal recessive 13 | unknown | |||
1706 | 9606 | 20191002 | DFNB14 | MIM:603678 | 7 7q31 | deafness, autosomal recessive 14 | unknown | |||
1709 | 9606 | 20191002 | DFNB17 | MIM:603010 | 7 7q31 | deafness, autosomal recessive 17 | unknown | |||
1713 | 9606 | 20191002 | DFNB20 | MIM:604060 | 11 11q25-qter | deafness, autosomal recessive 20 | unknown | |||
1714 | 9606 | 20190324 | DGCR CATCH22|DGS|VCF | DGCR DiGeorge syndrome chromosome region | MIM:188400|HGNC:HGNC:2844 | 22 22q11.21-q11.23 | DiGeorge syndrome chromosome region | other O | DiGeorge syndrome chromosome region (velocardiofacial syndrome) | |
1716 | 9606 | 20220513 | DGUOK MTDPS3|NCPH|NCPH1|PEOB4|dGK | DGUOK deoxyguanosine kinase | MIM:601465|HGNC:HGNC:2858|Ensembl:ENSG00000114956|AllianceGenome:HGNC:2858 | 2 2p13.1 | deoxyguanosine kinase | protein-coding O | deoxyguanosine kinase, mitochondrial|deoxyadenosine kinase, mitochondrial | |
1717 | 9606 | 20220612 | DHCR7 SLOS | DHCR7 7-dehydrocholesterol reductase | MIM:602858|HGNC:HGNC:2860|Ensembl:ENSG00000172893|AllianceGenome:HGNC:2860 | 11 11q13.4 | 7-dehydrocholesterol reductase | protein-coding O | 7-dehydrocholesterol reductase|7-DHC reductase|delta-7-dehydrocholesterol reductase|delta7-sterol reductase|putative sterol reductase SR-2|sterol delta-7-reductase|sterol reductase SR-2 | |
1718 | 9606 | 20220703 | DHCR24 DCE|Nbla03646|SELADIN1|seladin-1 | DHCR24 24-dehydrocholesterol reductase | MIM:606418|HGNC:HGNC:2859|Ensembl:ENSG00000116133|AllianceGenome:HGNC:2859 | 1 1p32.3 | 24-dehydrocholesterol reductase | protein-coding O | delta(24)-sterol reductase|3 beta-hydroxysterol delta 24-reductase|desmosterol-to-cholesterol enzyme|diminuto/dwarf1 homolog|seladin 1|selective AD indicator 1 | |
1719 | 9606 | 20220612 | DHFR DHFRP1|DYR | DHFR dihydrofolate reductase | MIM:126060|HGNC:HGNC:2861|Ensembl:ENSG00000228716|AllianceGenome:HGNC:2861 | 5 5q14.1 | dihydrofolate reductase | protein-coding O | ||
1720 | 9606 | 20220513 | DHFRP3 | DHFRP3 dihydrofolate reductase pseudogene 3 | HGNC:HGNC:52354|AllianceGenome:HGNC:52354 | 2 2p12 | dihydrofolate reductase pseudogene 3 | pseudo O | hDHFR-psi 3 | |
1723 | 9606 | 20220513 | DHODH DHOdehase|POADS|URA1 | DHODH dihydroorotate dehydrogenase (quinone) | MIM:126064|HGNC:HGNC:2867|Ensembl:ENSG00000102967|AllianceGenome:HGNC:2867 | 16 16q22.2 | dihydroorotate dehydrogenase (quinone) | protein-coding O | dihydroorotate dehydrogenase (quinone), mitochondrial|dihydroorotate oxidase|human complement of yeast URA1 | |
1725 | 9606 | 20220605 | DHPS DHS|DS|MIG13|NEDSSWI | DHPS deoxyhypusine synthase | MIM:600944|HGNC:HGNC:2869|Ensembl:ENSG00000095059|AllianceGenome:HGNC:2869 | 19 19p13.13 | deoxyhypusine synthase | protein-coding O | deoxyhypusine synthase|migration-inducing gene 13 | |
1727 | 9606 | 20220513 | CYB5R3 B5R|DIA1 | CYB5R3 cytochrome b5 reductase 3 | MIM:613213|HGNC:HGNC:2873|Ensembl:ENSG00000100243|AllianceGenome:HGNC:2873 | 22 22q13.2 | cytochrome b5 reductase 3 | protein-coding O | NADH-cytochrome b5 reductase 3|NADH-cytochrome b5 reductase 3 membrane-bound form|NADH-cytochrome b5 reductase 3 soluble form|diaphorase-1|mutant NADH-cytochrome b5 reductase | |
1728 | 9606 | 20220619 | NQO1 DHQU|DIA4|DTD|NMOR1|NMORI|QR1 | NQO1 NAD(P)H quinone dehydrogenase 1 | MIM:125860|HGNC:HGNC:2874|Ensembl:ENSG00000181019|AllianceGenome:HGNC:2874 | 16 16q22.1 | NAD(P)H quinone dehydrogenase 1 | protein-coding O | NAD(P)H dehydrogenase [quinone] 1|DT-diaphorase|NAD(P)H dehydrogenase, quinone 1|NAD(P)H:Quinone acceptor oxidoreductase type 1|NAD(P)H:menadione oxidoreductase 1|NAD(P)H:quinone oxidoreductase 1|NAD(P)H:quinone oxireductase|azoreductase|diaphorase (NADH/NADPH) (cytochrome b-5 reductase)|diaphorase-4|dioxin-inducible 1|menadione reductase|phylloquinone reductase|quinone reductase 1 | |
1729 | 9606 | 20220703 | DIAPH1 DFNA1|DIA1|DRF1|LFHL1|SCBMS|hDIA1|mDia1 | DIAPH1 diaphanous related formin 1 | MIM:602121|HGNC:HGNC:2876|Ensembl:ENSG00000131504|AllianceGenome:HGNC:2876 | 5 5q31.3 | diaphanous related formin 1 | protein-coding O | protein diaphanous homolog 1|mammalian diaphanous related formin 1 | |
1730 | 9606 | 20220522 | DIAPH2 DIA|DIA2|DRF2|POF|POF2|POF2A | DIAPH2 diaphanous related formin 2 | MIM:300108|HGNC:HGNC:2877|Ensembl:ENSG00000147202|AllianceGenome:HGNC:2877 | X Xq21.33 | diaphanous related formin 2 | protein-coding O | protein diaphanous homolog 2|Premature ovarian failure 2A|diaphanous homolog 2|diaphorase-2 | |
1731 | 9606 | 20220522 | SEPTIN1 DIFF6|LARP|PNUTL3|SEP1|SEPT1 | SEPTIN1 septin 1 | MIM:612897|HGNC:HGNC:2879|Ensembl:ENSG00000180096|AllianceGenome:HGNC:2879 | 16 16p11.2 | septin 1 | protein-coding O | septin-1|differentiation 6 (deoxyguanosine triphosphate triphosphohydrolase)|peanut-like protein 3|serologically defined breast cancer antigen NY-BR-24 | |
1732 | 9606 | 20191002 | DIH1 HCD | MIM:142340 | 15 15q26.1-q26.2 | diaphragmatic hernia 1 | unknown | |||
1733 | 9606 | 20220528 | DIO1 5DI|THMA2|TXDI1 | DIO1 iodothyronine deiodinase 1 | MIM:147892|HGNC:HGNC:2883|Ensembl:ENSG00000211452|AllianceGenome:HGNC:2883 | 1 1p32.3 | iodothyronine deiodinase 1 | protein-coding O | type I iodothyronine deiodinase|DIOI|deiodinase, iodothyronine type I|iodothyronine deiodinase type 1|selenoprotein DIO1|thyroxine 5'-deiodinase|thyroxine deiodinase type I (selenoprotein)|type 1 DI|type-I 5'-deiodinase | |
1734 | 9606 | 20220703 | DIO2 5DII|D2|DIOII|SELENOY|SelY|TXDI2 | DIO2 iodothyronine deiodinase 2 | MIM:601413|HGNC:HGNC:2884|Ensembl:ENSG00000211448|AllianceGenome:HGNC:2884 | 14 14q31.1 | iodothyronine deiodinase 2 | protein-coding O | type II iodothyronine deiodinase|deiodinase, iodothyronine type II|deiodinase-2|deiodonase-2|selenoprotein Y|thyroxine deiodinase, type II|type 2 DI|type 2 iodothyronine deiodinase|type-II 5'-deiodinase|type-II 5'deiodinase | |
1735 | 9606 | 20220513 | DIO3 5DIII|D3|DIOIII|TXDI3 | DIO3 iodothyronine deiodinase 3 | MIM:601038|HGNC:HGNC:2885|Ensembl:ENSG00000197406|AllianceGenome:HGNC:2885 | 14 14q32.31 | iodothyronine deiodinase 3 | protein-coding O | thyroxine 5-deiodinase|deiodinase, iodothyronine type III|iodothyronine deiodinase, placental type|selenoprotein DIO3|thyroxine deiodinase type III (selenoprotein)|type 3 DI|type 3 iodothyronine selenodeiodinase|type-III 5' deiodinase | |
1736 | 9606 | 20220703 | DKC1 CBF5|DKC|DKCX|NAP57|NOLA4|XAP101 | DKC1 dyskerin pseudouridine synthase 1 | MIM:300126|HGNC:HGNC:2890|Ensembl:ENSG00000130826|AllianceGenome:HGNC:2890 | X Xq28 | dyskerin pseudouridine synthase 1 | protein-coding O | H/ACA ribonucleoprotein complex subunit DKC1|CBF5 homolog|H/ACA ribonucleoprotein complex subunit 4|dyskeratosis congenita 1, dyskerin|nopp140-associated protein of 57 kDa|nucleolar protein NAP57|nucleolar protein family A member 4|snoRNP protein DKC1 | |
1737 | 9606 | 20220703 | DLAT DLTA|E2|PBC|PDC-E2|PDCE2 | DLAT dihydrolipoamide S-acetyltransferase | MIM:608770|HGNC:HGNC:2896|Ensembl:ENSG00000150768|AllianceGenome:HGNC:2896 | 11 11q23.1 | dihydrolipoamide S-acetyltransferase | protein-coding O | dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial|70 kDa mitochondrial autoantigen of primary biliary cirrhosis|E2 component of pyruvate dehydrogenase complex|M2 antigen complex 70 kDa subunit|dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex|pyruvate dehydrogenase complex component E2 | |
1738 | 9606 | 20220513 | DLD DLDD|DLDH|E3|GCSL|LAD|OGDC-E3|PHE3 | DLD dihydrolipoamide dehydrogenase | MIM:238331|HGNC:HGNC:2898|Ensembl:ENSG00000091140|AllianceGenome:HGNC:2898 | 7 7q31.1 | dihydrolipoamide dehydrogenase | protein-coding O | dihydrolipoyl dehydrogenase, mitochondrial|E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex|diaphorase|epididymis secretory sperm binding protein|glycine cleavage system L protein|glycine cleavage system protein L|lipoamide dehydrogenase|lipoamide reductase|lipoyl dehydrogenase | |
1739 | 9606 | 20220718 | DLG1 DLGH1|SAP-97|SAP97|hdlg | DLG1 discs large MAGUK scaffold protein 1 | MIM:601014|HGNC:HGNC:2900|Ensembl:ENSG00000075711|AllianceGenome:HGNC:2900 | 3 3q29 | discs large MAGUK scaffold protein 1 | protein-coding O | disks large homolog 1|dJ1061C18.1.1|discs large homolog 1, scribble cell polarity complex component|presynaptic protein SAP97|synapse-associated protein 97 |
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