Details for Gene BBS7

GENE NAME BBS7
CHROMOSOME 4
ENSEMBL ID None
ENTREZ ID ENSG00000138686
UNIPROT ACCESSION NUMBER Q8IWZ6
GO MOLECULAR FUNCTION ['RNA polymerase II-specific DNA-binding transcription factor binding', 'protein binding']
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-1852241; R-HSA-5617833; R-HSA-5620920; R-HSA-5620922
14 combinations linked to BBS7 OLI098; OLI617; OLI061; OLI097; OLI1124; OLI1669; OLI1532; OLI1567; OLI146; OLI620; OLI1451; OLI1670; OLI622; OLI1441
16 variants linked to BBS7 Copy Number Variant deletion on chromosome 4 of the exon16 17 in the gene BBS7; BBS7:c.632C>T, p.Thr211Ile; BBS7:c.187G>A, p.Gly63Arg; BBS7:c.601+2T>C, p.Gly201_Asp202ins15or16; BBS7:c.171G>A, p.Val57=; BBS7:c.442A>C, p.Asn148His; BBS7:c.878A>C, p.Gln293Pro; BBS7:c.87_88delCA, p.His29GlnfsTer12; BBS7:c.187G>A, p.Gly63Arg; BBS7:c.1235A>G, p.Asp412Gly; BBS7:c.1372-1G>C, ; BBS7:c.896_897delAA, p.Lys299ArgfsTer4; BBS7:c.1094A>T, p.Gln365Leu; BBS7:c.963delC, p.Pro321fs; BBS7:c.2279T>G, p.Leu760Arg; BBS7:c.1037G>A, p.Arg346Gln
3 diseases linked to BBS7 46,XY disorder of sex development; Bardet-Biedl syndrome; Syndrome with 46,XY disorder of sex development
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