AutismKB 2.0

Evidence Details for ATP1A3


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Basic Information Top
Gene Symbol:ATP1A3 ( DYT12,MGC13276,RDP )
Gene Full Name: ATPase, Na+/K+ transporting, alpha 3 polypeptide
Band: 19q13.2
Quick LinksEntrez ID:478; OMIM: 182350; Uniprot ID:AT1A3_HUMAN; ENSEMBL ID: ENSG00000105409; HGNC ID: 801
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>ATP1A3|478|nucleotide
ATGGGGGACAAGAAAGATGACAAGGACTCACCCAAGAAGAACAAGGGCAAGGAGCGCCGGGACCTGGATGACCTCAAGAAGGAGGTGGCTATGACAGAGCACAAG
ATGTCAGTGGAAGAGGTCTGCCGGAAATACAACACAGACTGTGTGCAGGGTTTGACCCACAGCAAAGCCCAGGAGATCCTGGCCCGGGATGGGCCTAACGCACTC
ACGCCACCGCCTACCACCCCAGAGTGGGTCAAGTTTTGCCGGCAGCTCTTCGGGGGCTTCTCCATCCTGCTGTGGATCGGGGCTATCCTCTGCTTCCTGGCCTAC
GGTATCCAGGCGGGCACCGAGGACGACCCCTCTGGTGACAACCTGTACCTGGGCATCGTGCTGGCGGCCGTGGTGATCATCACTGGCTGCTTCTCCTACTACCAG
GAGGCCAAGAGCTCCAAGATCATGGAGTCCTTCAAGAACATGGTGCCCCAGCAAGCCCTGGTGATCCGGGAAGGTGAGAAGATGCAGGTGAACGCTGAGGAGGTG
GTGGTCGGGGACCTGGTGGAGATCAAGGGTGGAGACCGAGTGCCAGCTGACCTGCGGATCATCTCAGCCCACGGCTGCAAGGTGGACAACTCCTCCCTGACTGGC
GAATCCGAGCCCCAGACTCGCTCTCCCGACTGCACTCACGACAACCCCTTGGAGACTCGGAACATCACCTTCTTTTCCACCAACTGTGTGGAAGGCACGGCTCGG
GGCGTGGTGGTGGCCACGGGCGACCGCACTGTCATGGGCCGTATCGCCACCCTGGCATCAGGGCTGGAGGTGGGCAAGACGCCCATCGCCATCGAGATTGAGCAC
TTCATCCAGCTCATCACCGGCGTGGCTGTCTTCCTGGGTGTCTCCTTCTTCATCCTCTCCCTCATTCTCGGATACACCTGGCTTGAGGCTGTCATCTTCCTCATC
GGCATCATCGTGGCCAATGTCCCAGAGGGTCTGCTGGCCACTGTCACTGTGTGTCTGACGCTGACCGCCAAGCGCATGGCCCGGAAGAACTGCCTGGTGAAGAAC
CTGGAGGCTGTAGAAACCCTGGGCTCCACGTCCACCATCTGCTCAGATAAGACAGGGACCCTCACTCAGAACCGCATGACAGTCGCCCACATGTGGTTTGACAAC
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>ATP1A3|478|protein
MGDKKDDKDSPKKNKGKERRDLDDLKKEVAMTEHKMSVEEVCRKYNTDCVQGLTHSKAQEILARDGPNALTPPPTTPEWVKFCRQLFGGFSILLWIGAILCFLAY
GIQAGTEDDPSGDNLYLGIVLAAVVIITGCFSYYQEAKSSKIMESFKNMVPQQALVIREGEKMQVNAEEVVVGDLVEIKGGDRVPADLRIISAHGCKVDNSSLTG
ESEPQTRSPDCTHDNPLETRNITFFSTNCVEGTARGVVVATGDRTVMGRIATLASGLEVGKTPIAIEIEHFIQLITGVAVFLGVSFFILSLILGYTWLEAVIFLI
GIIVANVPEGLLATVTVCLTLTAKRMARKNCLVKNLEAVETLGSTSTICSDKTGTLTQNRMTVAHMWFDNQIHEADTTEDQSGTSFDKSSHTWVALSHIAGLCNR
AVFKGGQDNIPVLKRDVAGDASESALLKCIELSSGSVKLMRERNKKVAEIPFNSTNKYQLSIHETEDPNDNRYLLVMKGAPERILDRCSTILLQGKEQPLDEEMK
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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) 0 (0) 0 (0) 1 (1) 2 (2) 0 (0) 0 (0) 0 (0) 23 (4)
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
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Linkage Studies Top