AutismKB 2.0

Evidence Details for ATP6V1A


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Basic Information Top
Gene Symbol:ATP6V1A ( ATP6A1,ATP6V1A1,HO68,VA68,VPP2,Vma1 )
Gene Full Name: ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
Band: 3q13.31
Quick LinksEntrez ID:523; OMIM: 607027; Uniprot ID:VATA_HUMAN; ENSEMBL ID: ENSG00000114573; HGNC ID: 851
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ATP6V1A|523|nucleotide
ATGGATTTTTCCAAGCTACCCAAAATACTCGATGAAGATAAAGAAAGCACATTTGGTTATGTGCATGGGGTCTCAGGACCTGTGGTTACAGCCTGTGACATGGCG
GGTGCAGCCATGTATGAGCTGGTGAGAGTGGGCCACAGCGAATTGGTTGGAGAGATTATTCGATTGGAGGGTGACATGGCTACTATTCAGGTGTATGAAGAAACT
TCTGGTGTGTCTGTTGGAGATCCTGTACTTCGCACTGGTAAACCCCTCTCTGTAGAGCTTGGTCCTGGCATTATGGGAGCCATTTTTGATGGTATTCAAAGACCT
TTGTCGGATATCAGCAGTCAGACCCAAAGCATCTACATCCCCAGAGGAGTAAACGTGTCTGCTCTTAGCAGAGATATCAAATGGGACTTTACACCTTGCAAAAAC
CTACGGGTTGGTAGTCATATCACTGGCGGAGACATTTATGGAATTGTCAGTGAGAACTCGCTTATCAAACACAAAATCATGTTACCCCCACGAAACAGAGGAACT
GTAACTTACATTGCTCCACCTGGGAATTATGATACCTCTGATGTTGTCTTGGAGCTTGAATTTGAAGGTGTAAAGGAGAAGTTCACCATGGTGCAAGTATGGCCT
GTACGTCAAGTTCGACCTGTCACTGAGAAGCTGCCAGCCAATCATCCTCTGTTGACTGGCCAGAGAGTCCTTGATGCCCTTTTTCCGTGTGTCCAGGGAGGAACT
ACTGCTATCCCTGGAGCCTTTGGCTGTGGAAAGACAGTGATATCACAGTCTCTATCCAAGTATTCTAACAGTGATGTAATCATCTATGTAGGATGTGGTGAAAGA
GGAAATGAGATGTCTGAAGTCCTCCGGGACTTCCCAGAGCTCACAATGGAGGTTGATGGTAAGGTAGAGTCAATTATGAAGAGGACAGCTTTGGTAGCCAATACC
TCCAATATGCCTGTTGCTGCTAGAGAAGCCTCTATTTATACTGGAATCACACTGTCAGAGTACTTCCGTGACATGGGCTATCATGTCAGTATGATGGCTGACTCT
ACCTCTAGATGGGCTGAGGCCCTTAGAGAAATCTCTGGTCGTTTAGCTGAAATGCCTGCAGATAGTGGATATCCAGCCTATCTTGGTGCCCGTCTGGCCTCGTTT
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>ATP6V1A|523|protein
MDFSKLPKILDEDKESTFGYVHGVSGPVVTACDMAGAAMYELVRVGHSELVGEIIRLEGDMATIQVYEETSGVSVGDPVLRTGKPLSVELGPGIMGAIFDGIQRP
LSDISSQTQSIYIPRGVNVSALSRDIKWDFTPCKNLRVGSHITGGDIYGIVSENSLIKHKIMLPPRNRGTVTYIAPPGNYDTSDVVLELEFEGVKEKFTMVQVWP
VRQVRPVTEKLPANHPLLTGQRVLDALFPCVQGGTTAIPGAFGCGKTVISQSLSKYSNSDVIIYVGCGERGNEMSEVLRDFPELTMEVDGKVESIMKRTALVANT
SNMPVAAREASIYTGITLSEYFRDMGYHVSMMADSTSRWAEALREISGRLAEMPADSGYPAYLGARLASFYERAGRVKCLGNPEREGSVSIVGAVSPPGGDFSDP
VTSATLGIVQVFWGLDKKLAQRKHFPSVNWLISYSKYMRALDEYYDKHFTEFVPLRTKAKEILQEEEDLAEIVQLVGKASLAETDKITLEVAKLIKDDFLQQNGY
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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) 1 (1) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 5 (3)
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
Fan Y, 2016 China CMA--autism - - - - 3 - 3
Linkage Studies Top