AutismKB 2.0

Evidence Details for ATP13A4


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Basic Information Top
Gene Symbol:ATP13A4 ( DKFZp761I1011,MGC126545 )
Gene Full Name: ATPase type 13A4
Band: 3q29
Quick LinksEntrez ID:84239; OMIM: 609556; Uniprot ID:AT134_HUMAN; ENSEMBL ID: ENSG00000127249; HGNC ID: 25422
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ATP13A4|84239|nucleotide
ATGGGACACTTTGAGAAGGGCCAGCACGCTCTGCTCAATGAAGGAGAAGAGAATGAGATGGAGATATTTGGCTATCGGACTCAAGGCTGCCGGAAAAGTCTCTGC
CTTGCCGGATCCATCTTCTCATTTGGAATCCTCCCCTTGGTGTTTTACTGGAGACCAGCATGGCACGTATGGGCACATTGTGTCCCATGTTCCTTGCAAGAAGCA
GACACTGTGTTGCTGAGGACAACGGATGAATTCCAAATTTACTCTTGGAAAAAGGTAATATGGATCTACCTGTCAGCATTAAACAGCGCATTTGGTCTCACTCCT
GACCACCCTCTCATGACAGATGAGGAGTATATCATAAATAGAGCCATAAGAAAGCCAGACCTAAAGGTGAGATGCATCAAAGTGCAGAAAATAAGATATGTTTGG
AACTACTTAGAAGGACAGTTCCAGAAAATTGGTTCTTTGGAAGACTGGCTTAGTTCTGCCAAGATACATCAAAAATTTGGATCAGGCTTGACAAGAGAAGAACAG
GAGATTAGGAGGTTAATATGTGGGCCTAATACTATCGATGTTGAAGTTACACCAATTTGGAAACTGCTCATCAAGGAGGTTCTAAATCCATTTTATATATTTCAA
CTCTTCAGTGTCTGTTTGTGGTTTAGTGAAGACTATAAGGAATATGCTTTTGCCATCATAATCATGTCCATAATTTCCATATCTTTGACAGTATATGATCTCAGA
GAGCAATCTGTAAAACTCCACCATCTCGTCGAGTCACATAATAGCATTACGGTCTCTGTATGTGGGAGAAAAGCTGGAGTTCAGGAGCTGGAATCACGCGTCCTG
GTGCCTGGAGATTTATTAATTTTGACAGGGAACAAAGTGCTAATGCCATGTGATGCCGTTCTGATTGAAGGCAGCTGTGTGGTGGATGAAGGCATGCTGACAGGA
GAAAGTATTCCAGTCACCAAAACTCCGTTACCCAAGATGGATAGCTCTGTGCCCTGGAAAACACAGAGTGAAGCGGATTACAAGCGGCATGTCCTCTTCTGTGGA
ACAGAGGTTATCCAGGCCAAGGCAGCTTGCTCTGGGACCGTGAGAGCCGTGGTACTGCAGACTGGATTCAACACTGCAAAGGGAGACCTTGTGAGATCCATTCTC
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>ATP13A4|84239|protein
MGHFEKGQHALLNEGEENEMEIFGYRTQGCRKSLCLAGSIFSFGILPLVFYWRPAWHVWAHCVPCSLQEADTVLLRTTDEFQIYSWKKVIWIYLSALNSAFGLTP
DHPLMTDEEYIINRAIRKPDLKVRCIKVQKIRYVWNYLEGQFQKIGSLEDWLSSAKIHQKFGSGLTREEQEIRRLICGPNTIDVEVTPIWKLLIKEVLNPFYIFQ
LFSVCLWFSEDYKEYAFAIIIMSIISISLTVYDLREQSVKLHHLVESHNSITVSVCGRKAGVQELESRVLVPGDLLILTGNKVLMPCDAVLIEGSCVVDEGMLTG
ESIPVTKTPLPKMDSSVPWKTQSEADYKRHVLFCGTEVIQAKAACSGTVRAVVLQTGFNTAKGDLVRSILYPKPVNFQLYRDAIRFLLCLVGTATIGMIYTLCVY
VLSGEPPEEVVRKALDVITIAVPPALPAALTTGIIYAQRRLKKRGIFCISPQRINVCGQLNLVCFDKTGTLTRDGLDLWGVVSCDRNGFQEVHSFASGQALPWGP
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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 (3) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (1) 2 (2) 24 (7)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Bremer, 2011 - aCGHASD - - - - 223 - 223
Farach LS, 2016 - ---autistic - - - - 1 - 1
Linkage Studies Top