Details for Gene CELSR1

GENE NAME CELSR1
CHROMOSOME 22
ENSEMBL ID None
ENTREZ ID ENSG00000075275
UNIPROT ACCESSION NUMBER Q9NYQ6
GO MOLECULAR FUNCTION ['G protein-coupled receptor activity', 'calcium ion binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS
19 combinations linked to CELSR1 OLI738; OLI1478; OLI698; OLI684; OLI510; OLI1473; OLI1475; OLI1476; OLI506; OLI508; OLI505; OLI1477; OLI749; OLI710; OLI686; OLI1472; OLI1474; OLI758; OLI507
18 variants linked to CELSR1 CELSR1:c.3544+23292_23323del, ; CELSR1:c.2305C>T, p.Arg769Trp; CELSR1:c.8772G>C, p.Gln2924His; CELSR1:c.3364G>A, p.Gly1122Ser; CELSR1:c.3169C>T, p.Arg1057Cys; CELSR1:c.2860C>T, p.Arg954Cys; CELSR1:c.8459A>G, p.Tyr2820Cys; CELSR1:c.6362G>A, p.Arg2121His; CELSR1:c.8807C>T, p.Pro2936Leu; CELSR1:c.7549G>A, p.Val2517Met; CELSR1:c.8282C>T, p.Ser2761Leu; CELSR1:c.7489C>T, p.Arg2497Cys; CELSR1:c.2468G>A, p.Arg823His; CELSR1:p.Asp940Asn; CELSR1:p.Ala2201Val; CELSR1:p.Val392Ala; CELSR1:p.Thr2568Met; CELSR1:p.Arg730Trp
5 diseases linked to CELSR1 Hypoplastic left heart syndrome; Holoprosencephaly; Isolated spina bifida; Isolated anencephaly; Familial bicuspid aortic valve
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