AutismKB 2.0

Evidence Details for ATP6V0A1


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Basic Information Top
Gene Symbol:ATP6V0A1 ( ATP6N1,ATP6N1A,DKFZp781J1951,Stv1,VPP1,Vph1,a1 )
Gene Full Name: ATPase, H+ transporting, lysosomal V0 subunit a1
Band: 17q21.2
Quick LinksEntrez ID:535; OMIM: 192130; Uniprot ID:VPP1_HUMAN; ENSEMBL ID: ENSG00000033627; HGNC ID: 865
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ATP6V0A1|535|nucleotide
ATGGGGGAGCTTTTCCGGAGTGAAGAAATGACACTGGCCCAGCTTTTTCTACAGTCAGAGGCTGCTTATTGTTGTGTCAGTGAATTAGGAGAACTTGGAAAGGTT
CAGTTTCGTGACTTAAATCCAGATGTGAATGTTTTCCAACGGAAATTTGTGAATGAAGTTAGAAGATGTGAAGAAATGGATCGAAAGCTTCGATTTGTTGAGAAA
GAGATAAGAAAAGCTAACATTCCGATTATGGACACCGGTGAAAACCCAGAGGTTCCCTTCCCCCGGGACATGATTGACTTAGAGGCCAATTTTGAGAAGATTGAA
AATGAACTGAAGGAAATCAACACAAACCAGGAAGCTCTGAAGAGAAACTTCCTGGAACTGACCGAATTAAAATTTATACTTCGCAAAACTCAGCAATTTTTTGAT
GAGGCTGAATTGCATCATCAGCAGATGGCGGATCCAGACTTGTTGGAAGAGTCCTCATCCCTCTTGGAGCCAAGTGAGATGGGAAGAGGCACTCCTTTAAGACTT
GGCTTCGTGGCTGGTGTCATTAACCGGGAGCGCATCCCTACTTTTGAGCGCATGCTTTGGCGGGTATGCCGGGGAAATGTGTTCCTGCGACAGGCTGAAATCGAG
AACCCCCTGGAGGATCCTGTGACTGGCGACTACGTGCACAAGTCTGTGTTTATCATTTTCTTCCAAGGCGATCAGCTGAAAAACAGAGTCAAGAAAATCTGTGAA
GGGTTCCGAGCCTCACTCTATCCCTGTCCTGAGACACCACAGGAGAGGAAGGAAATGGCTTCTGGAGTGAATACCAGGATTGATGATCTCCAAATGGTTCTGAAT
CAAACGGAGGATCACCGCCAGAGGGTTCTGCAGGCAGCTGCTAAGAACATCCGTGTCTGGTTCATCAAAGTGCGGAAGATGAAGGCCATCTATCACACCCTGAAC
CTGTGCAACATAGATGTGACTCAGAAATGCTTGATTGCAGAGGTCTGGTGCCCTGTCACCGACCTTGACTCCATCCAGTTTGCACTCAGAAGGGGCACGGAACAC
AGTGGTTCCACTGTACCTTCCATTTTGAACAGGATGCAGACAAACCAGACTCCCCCAACCTATAACAAAACCAACAAGTTTACCTATGGCTTTCAGAACATAGTA
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>ATP6V0A1|535|protein
MGELFRSEEMTLAQLFLQSEAAYCCVSELGELGKVQFRDLNPDVNVFQRKFVNEVRRCEEMDRKLRFVEKEIRKANIPIMDTGENPEVPFPRDMIDLEANFEKIE
NELKEINTNQEALKRNFLELTELKFILRKTQQFFDEAELHHQQMADPDLLEESSSLLEPSEMGRGTPLRLGFVAGVINRERIPTFERMLWRVCRGNVFLRQAEIE
NPLEDPVTGDYVHKSVFIIFFQGDQLKNRVKKICEGFRASLYPCPETPQERKEMASGVNTRIDDLQMVLNQTEDHRQRVLQAAAKNIRVWFIKVRKMKAIYHTLN
LCNIDVTQKCLIAEVWCPVTDLDSIQFALRRGTEHSGSTVPSILNRMQTNQTPPTYNKTNKFTYGFQNIVDAYGIGTYREINPAPYTIITFPFLFAVMFGDFGHG
ILMTLFAVWMVLRESRILSQKNENEMFSTVFSGRYIILLMGVFSMYTGLIYNDCFSKSLNIFGSSWSVRPMFTYNWTEETLRGNPVLQLNPALPGVFGGPYPFGI
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 12 (2)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top