AutismKB 2.0

Evidence Details for PPP6R3


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Basic Information Top
Gene Symbol:PPP6R3 ( C11orf23,DKFZp781E17107,DKFZp781E2374,DKFZp781O2362,FLJ11058,FLJ43065,KIAA1558,MGC125711,MGC125712,PP6R3,SAP190,SAPL,SAPLa,SAPS3 )
Gene Full Name: protein phosphatase 6, regulatory subunit 3
Band: 11q13
Quick LinksEntrez ID:55291; OMIM: 610879; Uniprot ID:PP6R3_HUMAN; ENSEMBL ID: ENSG00000110075; HGNC ID: 1173
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPP6R3|55291|nucleotide
ATGTTTTGGAAATTTGATCTTCACTCATCATCCCACATAGACACACTTCTAGAAAGAGAAGATGTAACACTGAAGGAGTTAATGGATGAGGAAGATGTTTTACAG
GAATGTAAAGCTCAGAACCGCAAACTTATAGAGTTTCTGTTAAAAGCAGAATGTCTCGAAGATTTAGTCTCATTCATTATAGAAGAACCACCTCAAGACATGGAT
GAAAAGATCAGATACAAGTATCCAAATATATCTTGTGAGTTGCTCACTTCTGATGTCTCCCAGATGAATGATAGACTGGGAGAAGATGAATCCTTGCTAATGAAA
TTATATAGCTTCCTCCTAAACGATTCCCCTTTGAATCCACTACTTGCCAGTTTCTTCAGCAAGGTGCTAAGTATTCTTATCAGCAGAAAACCAGAACAGATTGTG
GATTTCTTAAAGAAGAAGCATGATTTTGTAGACCTTATTATAAAGCACATAGGAACTTCTGCTATCATGGATTTGTTGCTCAGGCTCCTGACGTGTATCGAACCT
CCACAGCCCAGGCAAGATGTGCTGAATTGGTTAAATGAGGAGAAAATTATCCAGAGGCTTGTGGAAATAGTTCATCCATCGCAAGAAGAAGATCGACATTCAAAT
GCATCACAATCACTTTGTGAAATTGTTCGCCTGAGCAGAGACCAGATGTTACAAATTCAGAACAGTACAGAGCCCGACCCCCTGCTTGCCACTCTAGAAAAGCAA
GAAATTATAGAGCAGCTTCTATCAAATATTTTCCACAAGGAGAAAAATGAGTCAGCCATAGTCAGTGCAATCCAGATATTGCTGACTTTACTTGAGACACGACGA
CCAACATTTGAAGGCCATATAGAGATCTGCCCACCAGGCATGAGCCATTCAGCTTGTTCAGTAAACAAGAGTGTTCTAGAAGCCATCAGAGGAAGACTTGGATCT
TTTCATGAACTCCTGCTGGAGCCACCCAAGAAAAGTGTGATGAAGACCACATGGGGTGTGCTGGATCCTCCTGTGGGGAATACCCGGTTGAATGTCATTAGGTTG
ATATCCAGCCTGCTTCAAACCAATACCAGCAGTATAAATGGGGACCTTATGGAGCTGAATAGCATTGGAGTCATATTGAACATGTTCTTCAAGTATACATGGAAT
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>PPP6R3|55291|protein
MFWKFDLHSSSHIDTLLEREDVTLKELMDEEDVLQECKAQNRKLIEFLLKAECLEDLVSFIIEEPPQDMDEKIRYKYPNISCELLTSDVSQMNDRLGEDESLLMK
LYSFLLNDSPLNPLLASFFSKVLSILISRKPEQIVDFLKKKHDFVDLIIKHIGTSAIMDLLLRLLTCIEPPQPRQDVLNWLNEEKIIQRLVEIVHPSQEEDRHSN
ASQSLCEIVRLSRDQMLQIQNSTEPDPLLATLEKQEIIEQLLSNIFHKEKNESAIVSAIQILLTLLETRRPTFEGHIEICPPGMSHSACSVNKSVLEAIRGRLGS
FHELLLEPPKKSVMKTTWGVLDPPVGNTRLNVIRLISSLLQTNTSSINGDLMELNSIGVILNMFFKYTWNNFLHTQVEICIALILASPFENTENATITDQDSTGD
NLLLKHLFQKCQLIERILEAWEMNEKKQAEGGRRHGYMGHLTRIANCIVHSTDKGPNSALVQQLIKDLPDEVRERWETFCTSSLGETNKRNTVDLVTTCHIHSSS
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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 (1) 0 (0) 0 (0) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 1 (2)
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
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top