AutismKB 2.0

Evidence Details for PPP2R2D


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Basic Information Top
Gene Symbol:PPP2R2D ( MDS026 )
Gene Full Name: protein phosphatase 2, regulatory subunit B, delta
Band: 10q26.3
Quick LinksEntrez ID:55844; OMIM: NA; Uniprot ID:2ABD_HUMAN; ENSEMBL ID: ENSG00000175470; HGNC ID: 23732
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPP2R2D|55844|nucleotide
ATGGCAGGAGCCGGAGGCGGCGGCTGCCCCGCGGGCGGCAACGACTTCCAGTGGTGCTTCTCGCAGGTCAAGGGGGCCATCGACGAGGACGTGGCCGAAGCGGAC
ATCATTTCCACCGTTGAGTTTAATTACTCTGGAGATCTTCTTGCAACAGGAGACAAGGGCGGCAGAGTTGTTATTTTTCAGCGTGAACAAGAGAATAAAAGCCGC
CCTCATTCTAGGGGAGAATATAATGTTTACAGCACCTTTCAAAGTCATGAACCGGAGTTTGACTATTTGAAAAGTCTAGAAATTGAGGAAAAAATTAATAAAATT
AGGTGGTTACCACAACAGAATGCTGCTCATTTTCTACTGTCTACAAATGATAAAACTATAAAATTATGGAAAATAAGTGAACGGGATAAAAGAGCAGAAGGTTAT
AACCTGAAAGACGAAGATGGAAGACTTCGAGACCCATTTAGGATCACGGCGCTACGGGTCCCAATATTGAAGCCCATGGATCTTATGGTAGAAGCGAGTCCACGG
CGAATTTTTGCAAATGCTCACACATATCATATAAATTCCATTTCAGTAAATAGTGATCATGAAACATATCTTTCTGCAGATGACCTGAGAATTAATTTATGGCAC
TTAGAAATCACAGATAGAAGCTTTAACATCGTGGACATCAAGCCTGCTAACATGGAGGAGCTGACCGAAGTCATCACTGCAGCCGAGTTCCACCCGCACCAGTGC
AACGTGTTCGTCTACAGCAGTAGCAAAGGGACCATCCGCCTGTGTGACATGCGCTCCTCGGCCCTGTGCGACAGACACTCCAAGTTTTTTGAAGAGCCTGAAGAT
CCCAGCAGTAGGTCCTTCTTCTCAGAAATAATTTCATCCATATCCGATGTAAAATTCAGTCATAGTGGGCGGTACATGATGACCAGAGACTACCTGTCGGTGAAG
GTGTGGGACCTCAACATGGAGAGCAGGCCGGTGGAGACCCACCAGGTCCACGAGTACCTGCGCAGCAAGCTCTGCTCTCTCTATGAGAACGACTGCATCTTTGAC
AAGTTTGAGTGTTGCTGGAACGGTTCGGATAGCGCCATCATGACCGGGTCCTATAACAACTTCTTCAGGATGTTTGATAGAGACACGCGGAGGGATGTGACCCTG
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>PPP2R2D|55844|protein
MAGAGGGGCPAGGNDFQWCFSQVKGAIDEDVAEADIISTVEFNYSGDLLATGDKGGRVVIFQREQENKSRPHSRGEYNVYSTFQSHEPEFDYLKSLEIEEKINKI
RWLPQQNAAHFLLSTNDKTIKLWKISERDKRAEGYNLKDEDGRLRDPFRITALRVPILKPMDLMVEASPRRIFANAHTYHINSISVNSDHETYLSADDLRINLWH
LEITDRSFNIVDIKPANMEELTEVITAAEFHPHQCNVFVYSSSKGTIRLCDMRSSALCDRHSKFFEEPEDPSSRSFFSEIISSISDVKFSHSGRYMMTRDYLSVK
VWDLNMESRPVETHQVHEYLRSKLCSLYENDCIFDKFECCWNGSDSAIMTGSYNNFFRMFDRDTRRDVTLEASRESSKPRASLKPRKVCTGGKRRKDEISVDSLD
FNKKILHTAWHPVDNVIAVAATNNLYIFQDKIN
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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 (2) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (3)
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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Linkage Studies Top