AutismKB 2.0

Evidence Details for ATP13A3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ATP13A3 ( AFURS1,DKFZp686K16189,FLJ90613 )
Gene Full Name: ATPase type 13A3
Band: 3q29
Quick LinksEntrez ID:79572; OMIM: 610232; Uniprot ID:AT133_HUMAN; ENSEMBL ID: ENSG00000133657; HGNC ID: 24113
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ATP13A3|79572|nucleotide
ATGGACAGGGAAGAAAGGAAGACCATCAATCAGGGTCAAGAAGATGAAATGGAGATTTATGGTTACAATTTGAGTCGCTGGAAGCTTGCCATAGTTTCTTTAGGA
GTGATTTGCTCTGGTGGGTTTCTCCTCCTCCTCCTCTATTGGATGCCTGAGTGGCGGGTGAAAGCGACCTGTGTCAGAGCTGCAATTAAAGACTGTGAAGTAGTG
CTGCTGAGGACTACTGATGAATTCAAAATGTGGTTTTGTGCAAAAATTCGCGTTCTTTCTTTGGAAACTTACCCAGTTTCAAGTCCAAAATCTATGTCTAATAAG
CTTTCAAATGGCCATGCAGTTTGTTTAATTGAGAATCCCACTGAAGAAAATAGGCACAGGATCAGTAAATATTCACAGACTGAATCACAACAGATTCGTTATTTC
ACCCACCATAGTGTAAAATATTTCTGGAATGATACCATTCACAATTTTGATTTCTTAAAGGGACTGGATGAAGGTGTTTCTTGTACGTCAATTTATGAAAAGCAT
AGTGCAGGACTGACAAAGGGGATGCATGCCTACAGAAAACTGCTTTATGGAGTAAATGAAATTGCTGTAAAAGTGCCTTCTGTTTTTAAGCTTCTAATTAAAGAG
GTTCTCAACCCATTTTACATTTTCCAGCTGTTCAGTGTTATACTGTGGAGCACTGATGAATACTATTACTATGCTCTAGCTATTGTGGTTATGTCCATAGTATCA
ATCGTAAGCTCACTATATTCCATTAGAAAGCAATATGTTATGTTGCATGACATGGTGGCAACTCATAGTACCGTAAGAGTTTCAGTTTGTAGAGTAAATGAAGAA
ATAGAAGAAATCTTTTCTACCGACCTTGTGCCAGGAGATGTCATGGTCATTCCATTAAATGGGACAATAATGCCTTGTGATGCTGTGCTTATTAATGGTACCTGC
ATTGTAAACGAAAGCATGTTAACAGGAGAAAGTGTTCCAGTGACAAAGACTAATTTGCCAAATCCTTCAGTGGATGTGAAAGGAATAGGAGATGAATTATATAAT
CCAGAAACACATAAACGACATACTTTGTTTTGTGGGACAACTGTTATTCAGACTCGTTTCTACACTGGAGAACTCGTCAAAGCCATAGTTGTTAGAACAGGATTT
Show »

>ATP13A3|79572|protein
MDREERKTINQGQEDEMEIYGYNLSRWKLAIVSLGVICSGGFLLLLLYWMPEWRVKATCVRAAIKDCEVVLLRTTDEFKMWFCAKIRVLSLETYPVSSPKSMSNK
LSNGHAVCLIENPTEENRHRISKYSQTESQQIRYFTHHSVKYFWNDTIHNFDFLKGLDEGVSCTSIYEKHSAGLTKGMHAYRKLLYGVNEIAVKVPSVFKLLIKE
VLNPFYIFQLFSVILWSTDEYYYYALAIVVMSIVSIVSSLYSIRKQYVMLHDMVATHSTVRVSVCRVNEEIEEIFSTDLVPGDVMVIPLNGTIMPCDAVLINGTC
IVNESMLTGESVPVTKTNLPNPSVDVKGIGDELYNPETHKRHTLFCGTTVIQTRFYTGELVKAIVVRTGFSTSKGQLVRSILYPKPTDFKLYRDAYLFLLCLVAV
AGIGFIYTIINSILNEVQVGVIIIESLDIITITVPPALPAAMTAGIVYAQRRLKKIGIFCISPQRINICGQLNLVCFDKTGTLTEDGLDLWGIQRVENARFLSPE
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) 1 (2) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 4 (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
Bremer, 2011 - aCGHASD - - - - 223 - 223
Farach LS, 2016 - ---autistic - - - - 1 - 1
Linkage Studies Top