Details for Gene BBS10

GENE NAME BBS10
CHROMOSOME 12
ENSEMBL ID None
ENTREZ ID ENSG00000179941
UNIPROT ACCESSION NUMBER None
GO MOLECULAR FUNCTION ['ATP hydrolysis activity', 'RNA polymerase II-specific DNA-binding transcription factor binding', 'protein binding', 'ATP binding']
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-1852241; R-HSA-5617833; R-HSA-5620920; R-HSA-5620922
30 combinations linked to BBS10 OLI418; OLI085; OLI621; OLI088; OLI619; OLI623; OLI176; OLI1128; OLI142; OLI1125; OLI1118; OLI078; OLI1670; OLI1668; OLI089; OLI144; OLI324; OLI923; OLI1662; OLI1671; OLI084; OLI079; OLI172; OLI083; OLI1127; OLI1119; OLI1669; OLI175; OLI177; OLI143
32 variants linked to BBS10 BBS10:p.Glu274ValfsTer29; BBS10:p.Val707TerfsTer1; BBS10:p.Leu55Pro; BBS10:p.Lys188Thr; BBS10:p.Ala636Val; BBS10:p.Cys91Trp; BBS10:c.2119_2120del, p.Val707Ter; BBS10:c.271dup, p.Cys91LeufsTer5; BBS10:p.Tyr559Ter; BBS10:p.His410Gln; BBS10:p.Ala296Thr; BBS10:p.His715Arg; BBS10:c.1598_1601delTAAC, p.Leu533fsTer22; BBS10:c.1090delA, p.Asn364ThrfsTer5; BBS10:c.1333C>A, p.Leu445Ile; BBS10:c.765G>A, p.Met255Ile; BBS10:c.271_272insT, p.Cys91TrpfsTer5; BBS10:c.1867C>T, p.Gln623Ter; BBS10:c.145C>T, p.Arg49Trp; BBS10:c.1241T>C, p.Leu414Ser; BBS10:c.271dup, p.Cys91fs; BBS10:c.886G>A, p.Ala296Thr; BBS10:c.2144A>G, p.His715Arg; BBS10:c.273C>G, p.Cys91Trp; BBS10:c.1677C>A, p.Tyr559Ter; BBS10:c.563A>C, p.Lys188Thr; BBS10:c.1907C>T, p.Ala636Val; BBS10:c.164T>C, p.Leu55Pro; BBS10:c.733T>G, p.Phe245Val; BBS10:c.1527dup, p.Thr510HisfsTer12; BBS10:c.1249G>A, p.Ala417Thr; BBS10:c.1335_1338del, p.Tyr448ArgfsTer39
4 diseases linked to BBS10 Alström syndrome; McKusick-Kaufman syndrome; Transposition of the great arteries; Bardet-Biedl syndrome
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