Details for Gene ANOS1

GENE NAME ANOS1
CHROMOSOME X
ENSEMBL ID None
ENTREZ ID ENSG00000011201
UNIPROT ACCESSION NUMBER P23352
GO MOLECULAR FUNCTION ['heparin binding', 'extracellular matrix structural constituent', 'serine-type endopeptidase inhibitor activity', 'protein binding']
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-162582; R-HSA-190236; R-HSA-190242; R-HSA-190373; R-HSA-5654726; R-HSA-5654736; R-HSA-9006934
44 combinations linked to ANOS1 OLI1391; OLI1016; OLI1424; OLI1415; OLI1398; OLI1339; OLI391; OLI1544; OLI876; OLI1298; OLI1422; OLI1411; OLI355; OLI1287; OLI1421; OLI457; OLI814; OLI152; OLI885; OLI1409; OLI1425; OLI853; OLI857; OLI852; OLI1301; OLI1407; OLI1114; OLI837; OLI1344; OLI856; OLI1106; OLI511; OLI289; OLI395; OLI1404; OLI1509; OLI119; OLI456; OLI1420; OLI206; OLI498; OLI205; OLI1320; OLI1390
36 variants linked to ANOS1 Copy Number Variant deletion on chromosome X of the whole gene in the gene ANOS1; Copy Number Variant deletion on chromosome X of the exon1 in the gene ANOS1; Copy Number Variant deletion on chromosome X of the exon9 14 in the gene ANOS1; ANOS1:c.1540G>A, p.Glu514Lys; ANOS1:p.Ser396Leu; ANOS1:p.Arg423Ter; ANOS1:p.Tyr217Asp; ANOS1:p.Trp589Ter; ANOS1:c.1759G>T, p.Val587Leu; ANOS1:c.571C>T, p.Arg191Ter; ANOS1:c.1464A>G, p.Thr472Ala; ANOS1:c.1627G>A, p.Val543Ile; ANOS1:c.488_490delGTT, p.Cys164del; ANOS1:c.1654G>A, p.Glu552Lys; ANOS1:c.1062+1G>A, ; ANOS1:c.1678G>A, p.Val560Ile; ANOS1:c.133C>T, p.Gln45Ter; ANOS1:c.1353del, p.Asp452IlefsTer30; ANOS1:c.1524delA, p.Ser509ValfsTer40; ANOS1:c.1062+4A>C, ; ANOS1:c.563_564delAA, p.Lys188ArgfsTer15; ANOS1:c.226delT, p.Trp76GlyfsTer21; ANOS1:c.1468C>T, p.Gln490Ter; ANOS1:c.658C>T, p.Gln220Ter; ANOS1:c.1871T>G, p.Leu624Arg; ANOS1:c.907G>A, p.Val303Ile; ANOS1:c.1369C>T, p.Arg457Ter; ANOS1:c.67_92del, p.Leu23CysfsTer54; ANOS1:c.1801del, p.Leu601TyrfsTer19; ANOS1:c.1449+1G>A, ; ANOS1:c.1887_1888del, p.Tyr630ProfsTer36; ANOS1:c.266C>T, p.Pro89Leu; ANOS1:c.814C>T, p.Arg272Ter; ANOS1:c.1381delC, p.Arg461GlyfsTer21; ANOS1:c.1270C>T, p.Arg424Ter; ANOS1:c.1187C>T, p.Ser396Leu
5 diseases linked to ANOS1 46,XY disorder of sex development; Normosmic congenital hypogonadotropic hypogonadism; Hypogonadotropic hypogonadism with partial puberty phenotype; Hypogonadotropic hypogonadism with absent puberty phenotype; Kallmann syndrome
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