AutismKB 2.0

Evidence Details for ATP6V0A2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ATP6V0A2 ( A2,ARCL,ATP6A2,ATP6N1D,J6B7,RTF,STV1,TJ6,TJ6M,TJ6S,VPH1,WSS )
Gene Full Name: ATPase, H+ transporting, lysosomal V0 subunit a2
Band: 12q24.31
Quick LinksEntrez ID:23545; OMIM: 611716; Uniprot ID:VPP2_HUMAN; ENSEMBL ID: ENSG00000185344; HGNC ID: 18481
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ATP6V0A2|23545|nucleotide
ATGGGGTCCCTGTTCCGGAGCGAGACCATGTGCCTGGCGCAGCTCTTCCTGCAGTCGGGCACGGCCTACGAGTGCCTCAGCGCCCTGGGCGAGAAAGGCCTGGTC
CAGTTCCGAGACCTCAACCAGAACGTAAGTTCTTTCCAAAGAAAATTTGTTGGTGAGGTGAAGAGGTGTGAAGAGCTAGAGCGAATATTGGTGTATTTGGTACAG
GAAATTAATAGAGCTGATATTCCCCTTCCTGAAGGAGAGGCCAGCCCTCCTGCGCCACCCCTGAAACAGGTTCTAGAAATGCAGGAGCAGTTGCAGAAGCTCGAG
GTTGAACTGAGAGAAGTCACTAAGAACAAGGAGAAACTGAGGAAAAACTTGCTGGAACTGATAGAGTACACTCACATGCTGAGAGTGACAAAGACCTTTGTGAAA
CGCAATGTTGAGTTTGAACCCACTTATGAAGAATTCCCTTCCTTAGAGAGTGATTCTTTGTTGGATTACAGCTGTATGCAGAGGCTGGGAGCAAAACTGGGATTT
GTGTCTGGCCTAATTAACCAAGGAAAAGTGGAAGCATTTGAAAAAATGTTGTGGAGAGTCTGCAAAGGGTACACCATCGTGTCCTATGCAGAACTGGATGAATCC
CTTGAAGACCCTGAAACAGGGGAAGTCATAAAATGGTATGTCTTTTTAATATCCTTTTGGGGAGAGCAGATTGGCCACAAGGTTAAGAAGATATGTGATTGCTAC
CACTGCCACGTGTACCCCTATCCAAACACAGCCGAGGAGCGGAGGGAGATCCAGGAGGGGCTGAACACCCGCATCCAGGATCTCTACACTGTACTGCACAAAACC
GAGGACTATTTGAGGCAAGTGCTATGTAAAGCCGCCGAGTCTGTCTACAGCCGTGTGATCCAGGTGAAGAAAATGAAGGCCATCTATCACATGCTGAACATGTGC
AGCTTTGACGTGACCAACAAGTGCCTCATTGCTGAGGTCTGGTGTCCCGAGGCGGATCTGCAGGACCTGCGCCGGGCACTGGAGGAGGGCTCGAGAGAGAGTGGT
GCTACAATCCCCTCATTCATGAATATAATCCCCACAAAAGAAACACCCCCCACTCGGATCCGCACCAACAAATTCACCGAGGGATTTCAGAACATCGTGGATGCT
Show »

>ATP6V0A2|23545|protein
MGSLFRSETMCLAQLFLQSGTAYECLSALGEKGLVQFRDLNQNVSSFQRKFVGEVKRCEELERILVYLVQEINRADIPLPEGEASPPAPPLKQVLEMQEQLQKLE
VELREVTKNKEKLRKNLLELIEYTHMLRVTKTFVKRNVEFEPTYEEFPSLESDSLLDYSCMQRLGAKLGFVSGLINQGKVEAFEKMLWRVCKGYTIVSYAELDES
LEDPETGEVIKWYVFLISFWGEQIGHKVKKICDCYHCHVYPYPNTAEERREIQEGLNTRIQDLYTVLHKTEDYLRQVLCKAAESVYSRVIQVKKMKAIYHMLNMC
SFDVTNKCLIAEVWCPEADLQDLRRALEEGSRESGATIPSFMNIIPTKETPPTRIRTNKFTEGFQNIVDAYGVGSYREVNPALFTIITFPFLFAVMFGDFGHGFV
MFLFALLLVLNENHPRLNQSQEIMRMFFNGRYILLLMGLFSVYTGLIYNDCFSKSVNLFGSGWNVSAMYSSSHPPAEHKKMVLWNDSVVRHNSILQLDPSIPGVF
Show »

Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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) 0 (4) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (5)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top