Details for Gene BBS1

GENE NAME BBS1
CHROMOSOME 11
ENSEMBL ID None
ENTREZ ID ENSG00000174483
UNIPROT ACCESSION NUMBER Q8NFJ9
GO MOLECULAR FUNCTION ['protein binding', 'RNA polymerase II-specific DNA-binding transcription factor binding', 'smoothened binding', 'patched binding']
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-1852241; R-HSA-5617833; R-HSA-5620920; R-HSA-5620922
44 combinations linked to BBS1 OLI1440; OLI1441; OLI063; OLI1435; OLI617; OLI1120; OLI139; OLI1146; OLI037; OLI039; OLI064; OLI1442; OLI066; OLI088; OLI619; OLI038; OLI061; OLI323; OLI618; OLI1122; OLI1118; OLI1438; OLI1443; OLI1667; OLI417; OLI089; OLI1437; OLI1439; OLI065; OLI324; OLI1129; OLI1436; OLI079; OLI141; OLI062; OLI1445; OLI1116; OLI1127; OLI080; OLI1119; OLI140; OLI1117; OLI147; OLI1444
32 variants linked to BBS1 BBS1:p.Leu548fsTer579; BBS1:p.Met242ArgfsTer83; Copy Number Variant deletion on chromosome 11 of the exon1 11 in the gene BBS1; Copy Number Variant deletion on chromosome 11 of the exon10 17 in the gene BBS1; Copy Number Variant deletion on chromosome 11 of the exon14 17 in the gene BBS1; BBS1:p.Leu505ProfsTer52; BBS1:p.Tyr113Ter; BBS1:c.1169T>G, p.Met390Arg; BBS1:c.1645G>T, p.Glu549Ter; BBS1:p.Glu234Lys; BBS1:p.Gln291Ter; BBS1:p.Ile389=; BBS1:c.1600_1601delTTinsGC, p.Phe534Ala; BBS1:c.887del, p.Ile296ThrfsTer7; BBS1:c.1473+4A>G, ; BBS1:c.1535G>A, p.Arg512His; BBS1:c.1016A>T, p.His339Leu; BBS1:c.46A>T, p.Ser16Cys; BBS1:c.1285dup, p.Arg429ProfsTer72; BBS1:c.1570_1572del, p.Asn524del; BBS1:p.Ile330Thr; BBS1:c.1447C>T, p.Arg483Ter; BBS1:c.24T>C, p.Asp8=; BBS1:c.1338C>T, p.Thr446=; BBS1:c.734C>T, p.Pro245Leu; BBS1:c.1169T>G, p.Met390Arg; BBS1:c.1097T>A, p.Val366Asp; BBS1:c.118delT, p.Cys40AlafsTer2; BBS1:c.1645G>T, p.Glu549Ter; BBS1:c.951+58C>T, ; BBS1:c.837del, p.Lys280SerfsTer9; BBS1:c.71dup, p.Lys24PhefsTer75
5 diseases linked to BBS1 Alström syndrome; Hirschsprung disease; McKusick-Kaufman syndrome; Bardet-Biedl syndrome; Retinitis pigmentosa
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