Details for Gene CHD7

GENE NAME CHD7
CHROMOSOME 8
ENSEMBL ID None
ENTREZ ID ENSG00000171316
UNIPROT ACCESSION NUMBER Q9P2D1
GO MOLECULAR FUNCTION ['chromatin binding', 'RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'protein binding', 'ATP hydrolysis activity', 'DNA helicase activity', 'promoter-specific chromatin binding', 'ATP binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS
75 combinations linked to CHD7 OLI872; OLI1591; OLI867; OLI1162; OLI1746; OLI1340; OLI457; OLI020; OLI354; OLI869; OLI1282; OLI1534; OLI1112; OLI1590; OLI1605; OLI1603; OLI1163; OLI339; OLI1291; OLI1544; OLI1260; OLI1276; OLI1301; OLI1403; OLI836; OLI1113; OLI1265; OLI912; OLI1167; OLI132; OLI1294; OLI1397; OLI1172; OLI1337; OLI1651; OLI1353; OLI1161; OLI1335; OLI1347; OLI1652; OLI1426; OLI1268; OLI1573; OLI847; OLI1261; OLI1600; OLI1378; OLI1593; OLI1283; OLI877; OLI1413; OLI850; OLI1553; OLI689; OLI555; OLI860; OLI1606; OLI1401; OLI1420; OLI1427; OLI1270; OLI903; OLI575; OLI961; OLI1405; OLI1523; OLI1346; OLI1322; OLI1536; OLI1160; OLI875; OLI898; OLI1653; OLI1111; OLI1284
70 variants linked to CHD7 CHD7:c.7198C>T, p.Arg2400Trp; CHD7:c.6107C>T, p.Pro2036Leu; CHD7:c.4008C>T, p.Ile1336Ile; CHD7:p.Ser8Arg; CHD7:p.Lys2129Glu; CHD7:c.2440C>T, p.Gln814Ter; CHD7:c.1565G>T, p.Gly522Val; CHD7:c.7579A>C, p.Met2527Leu; CHD7:c.3245C>T, p.Thr1082Ile; CHD7:c.6955C>T, p.Arg2319Cys; CHD7:c.7235A>T, p.Glu2412Val; CHD7:c.5980T>G, p.Trp1994Gly; CHD7:c.4516G>A, p.Gly1506Ser; CHD7:c.30del, p.Phe10LeufsTer25; CHD7:c.3311T>C, p.Ile1104Thr; CHD7:c.3568C>G, p.Leu1190Val; CHD7:c.1727C>T, p.Pro576Leu; CHD7:c.2189C>T, p.Thr730Ile; CHD7:c.2656C>T, p.Arg886Trp; CHD7:c.2049_2050insCAAAAG, p.Lys683_Lys684insGlnLys; CHD7:c.4033C>T, p.Arg1345Cys; CHD7:c.4549_4563del, p.Ser1517_Thr1521del; CHD7:c.2548A>C, p.Lys850Gln; CHD7:c.3088A>C, p.Asn1030His; CHD7:c.8512delG, p.Asp2838ThrfsTer51; CHD7:c.2053_2058dupGCAAAA, p.Lys683_Thr684insAlaLys; CHD7:c.307T>A, p.Ser103Thr; CHD7:c.5713A>G, p.Asn1905Asp; CHD7:c.4012G>A, p.Gly1338Ser; CHD7:c.3299G>A, p.Arg1100His; CHD7:c.5512A>G, p.Met1838Val; CHD7:c.1397C>T, p.Ser466Leu; CHD7:c.2675G>A, p.Arg892His; CHD7:c.1315C>T, p.Pro439Ser; CHD7:c.218A>G, p.Asn73Ser; CHD7:c.4275C>G, p.Phe1425Leu; CHD7:c.8672A>G, p.Asn2891Ser; CHD7:c.1765T>A, p.Ser589Thr; CHD7:c.2824A>G, p.Thr942Ala; CHD7:c.*480_*481insAGGC, ; CHD7:c.*480_*481insCAGTATGCTCGGGACGCCCTGGCTAAGAACATCTACAGCCGCC, ; CHD7:c.8250T>G, p.Phe2750Leu; CHD7:c.3247A>G, p.Thr1083Ala; CHD7:c.6379G>A, p.Ala2127Thr; CHD7:c.7912A>G, p.Ile2638Val; CHD7:c.3366G>C, p.Lys1122Asn; CHD7:c.2185A>G, p.Lys729Glu; CHD7:c.6287A>G, p.Hist2096Arg; CHD7:c.8366C>T, p.Ala2789Val; CHD7:c.8405G>A, p.Gly2802Glu; CHD7:c.7861C>G, p.Gln2621Glu; CHD7:c.5533G>A, p.Gly1845Arg; CHD7:c.1117C>T, p.Leu373Phe; CHD7:c.7957C>T, p.Arg2653Ter; CHD7:c.6190A>G, p.Ile2064Val; CHD7:c.6989G>C, p.Gly2330Ala; CHD7:c.8416C>G, p.Leu2806Val; CHD7:c.1696C>G, p.Pro566Ala; CHD7:c.1030G>A, p.Val344Ile; CHD7:c.8950C>T, p.Leu2984Phe; CHD7:c.4847A>G, p.Tyr1616Cys; CHD7:c.1105C>G, p.Pro369Ala; CHD7:c.5051-4C>T, ; CHD7:c.8188G>A, p.Ala2730Thr; CHD7:c.2966G>A, p.Cys989Tyr; CHD7:c.2613+5G>A, ; CHD7:c.576T>A, p.Tyr192Ter; CHD7:c.2750C>T, p.Thr917Met; CHD7:c.7891C>T, p.Arg2631Ter; CHD7:c.1623C>A, p.His541Gln
12 diseases linked to CHD7 46,XY disorder of sex development; Kallmann syndrome; Syndrome with 46,XY disorder of sex development; MODY; Isolated Klippel-Feil syndrome; CHARGE syndrome; Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with absent puberty phenotype; Hypogonadotropic hypogonadism with Fertile Eunuch phenotype; Disorder of sex development; Non-acquired combined pituitary hormone deficiency; Congenital hypogonadotropic hypogonadism
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