AutismKB 2.0

Evidence Details for ATP6AP1L


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Basic Information Top
Gene Symbol:ATP6AP1L ( MGC138396 )
Gene Full Name: ATPase, H+ transporting, lysosomal accessory protein 1-like
Band: 5q14.2
Quick LinksEntrez ID:92270; OMIM: NA; Uniprot ID:VAS1L_HUMAN; ENSEMBL ID: ENSG00000205464; HGNC ID: 28091
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ATP6AP1L|92270|nucleotide
ATGAGACTTTGGAAAGCAAGGGTTCTCAAACTCGTTTTGAAAACAGCAAAGGATTCCAGGCTTGGTCTCAACTCCAAATGGTTGTCTTTGAAGCTTGGTGATGCT
GGAAACCCCAGAAGTCTTGCTATAAGATTCATCCTTACCAATTACAACAAGTTGTCCATCCAGAGTTGGTTTAGTTTGCGCCGAGTCGAGATCATTTCCAACAAT
TCAATCCAAGCAGTCTTTAACCCAACTGGCGTATATGCTCCCTCTGGTTACTCCTACCGCTGCCAACGCGTGGGCAGCCTGCAGCAGGACCAGGCCCTCTTGCTG
CCCAGCGACACGGATGATGGGTCGAGCCTGTGGGAGGTCACTTTTATTGATTTCCAGATCCAAGGTTTTGCCATCAAGGGGGGACGATTTACCAAAGCCCAAGAC
TGCGCCTCCTCCTTCTCGCCAGCTTTTCTGATCGGCCTGGCAATGTCCCTGATCCTGCTGCTGGTGTTGGCCTATGCCCTGCACATGCTCATCTACCTGCGGTAT
CTGGACCAACAATATGATCTCATCGCCTCTCCTGCCCACTTCTCGCAGCTGAAAGCTCGAGACACAGCCGAAGAGAAGGAGCTGCTGAGGAGCCAGGGGGCTGAA
TGCTATAAACTGAGAAGCCAACAGATCAGCAAAATCTATGTTTAG




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>ATP6AP1L|92270|protein
MRLWKARVLKLVLKTAKDSRLGLNSKWLSLKLGDAGNPRSLAIRFILTNYNKLSIQSWFSLRRVEIISNNSIQAVFNPTGVYAPSGYSYRCQRVGSLQQDQALLL
PSDTDDGSSLWEVTFIDFQIQGFAIKGGRFTKAQDCASSFSPAFLIGLAMSLILLLVLAYALHMLIYLRYLDQQYDLIASPAHFSQLKARDTAEEKELLRSQGAE
CYKLRSQQISKIYV


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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 (1) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top