AutismKB 2.0

Evidence Details for ATP6V1B1


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Basic Information Top
Gene Symbol:ATP6V1B1 ( ATP6B1,MGC32642,RTA1B,VATB,VMA2,VPP3 )
Gene Full Name: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1
Band: 2p13.3
Quick LinksEntrez ID:525; OMIM: 192132; Uniprot ID:VATB1_HUMAN; ENSEMBL ID: ENSG00000116039; HGNC ID: 853
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ATP6V1B1|525|nucleotide
ATGGCCATGGAGATAGACAGCAGGCCTGGGGGGCTCCCCGGCAGTAGCTGCAACCTAGGTGCAGCCCGAGAACACATGCAGGCGGTCACCCGAAACTACATCACC
CACCCCCGTGTCACCTACAGGACTGTGTGCAGCGTGAACGGGCCCCTGGTGGTGCTGGACCGGGTCAAGTTTGCCCAGTATGCGGAGATCGTCCACTTCACCCTC
CCAGATGGGACTCAGAGGAGCGGGCAGGTGCTTGAGGTGGCTGGCACCAAGGCGATTGTTCAGGTGTTTGAAGGGACATCAGGGATCGATGCCAGGAAGACCACT
TGCGAATTTACAGGGGACATCCTACGAACTCCGGTGTCAGAGGACATGCTGGGTCGGGTTTTCAATGGCTCCGGCAAGCCCATTGACAAGGGGCCAGTGGTCATG
GCGGAGGACTTTCTGGATATCAATGGCCAGCCCATCAACCCGCACTCCCGCATCTACCCCGAGGAGATGATTCAGACGGGCATTTCTCCTATTGACGTCATGAAC
AGCATTGCCCGCGGCCAGAAGATCCCCATCTTCTCAGCAGCCGGGCTCCCCCACAATGAGATTGCCGCTCAGATCTGCCGCCAGGCGGGGCTGGTGAAGAAGTCC
AAGGCTGTGCTGGATTACCATGACGACAACTTCGCCATCGTCTTTGCAGCCATGGGGGTGAACATGGAGACAGCCAGATTCTTCAAGTCTGACTTTGAGCAGAAT
GGAACCATGGGGAACGTCTGCCTCTTCCTGAACTTGGCCAATGACCCCACGATCGAGCGGATCATCACCCCGCGCCTGGCGCTGACCACTGCTGAATTCCTTGCC
TACCAGTGTGAGAAGCATGTGCTGGTCATACTGACGGACATGAGTTCCTATGCAGAGGCCTTGCGGGAGGTCTCTGCTGCTAGAGAGGAGGTGCCTGGGCGCCGA
GGGTTTCCTGGATATATGTACACAGACCTGGCCACCATCTACGAGCGGGCGGGCCGCGTGGAGGGTCGGGGAGGATCCATCACACAGATCCCCATCCTCACCATG
CCCAACGACGATATCACCCACCCTATCCCAGACTTGACGGGCTTCATCACAGAGGGACAGATCTACGTGGACAGACAGCTTCACAACAGACAGATCTACCCCCCC
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>ATP6V1B1|525|protein
MAMEIDSRPGGLPGSSCNLGAAREHMQAVTRNYITHPRVTYRTVCSVNGPLVVLDRVKFAQYAEIVHFTLPDGTQRSGQVLEVAGTKAIVQVFEGTSGIDARKTT
CEFTGDILRTPVSEDMLGRVFNGSGKPIDKGPVVMAEDFLDINGQPINPHSRIYPEEMIQTGISPIDVMNSIARGQKIPIFSAAGLPHNEIAAQICRQAGLVKKS
KAVLDYHDDNFAIVFAAMGVNMETARFFKSDFEQNGTMGNVCLFLNLANDPTIERIITPRLALTTAEFLAYQCEKHVLVILTDMSSYAEALREVSAAREEVPGRR
GFPGYMYTDLATIYERAGRVEGRGGSITQIPILTMPNDDITHPIPDLTGFITEGQIYVDRQLHNRQIYPPINVLPSLSRLMKSAIGEGMTRKDHGDVSNQLYACY
AIGKDVQAMKAVVGEEALTSEDLLYLEFLQKFEKNFINQGPYENRSVFESLDLGWKLLRIFPKEMLKRIPQAVIDEFYSREGALQDLAPDTAL
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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) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) (0)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top