AutismKB 2.0

Evidence Details for PPP2R2A


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Basic Information Top
Gene Symbol:PPP2R2A ( B55A,B55ALPHA,DKFZp686N05117,FLJ26613,FLJ41727,MGC52248,PR52A,PR55A )
Gene Full Name: protein phosphatase 2, regulatory subunit B, alpha
Band: 8p21.2
Quick LinksEntrez ID:5520; OMIM: 604941; Uniprot ID:2ABA_HUMAN; ENSEMBL ID: ENSG00000221914; HGNC ID: 9304
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPP2R2A|5520|nucleotide
ATGTTCCCGAAGTTTTCTCTTCGTTCTATGTTTCATGGAGCTGGAGGAGGGAATGATATTCAGTGGTGTTTTTCTCAGGTGAAAGGAGCAGTAGATGATGATGTA
GCAGAAGCAGATATAATTTCTACAGTAGAATTTAATCATTCTGGAGAATTACTAGCAACAGGAGATAAAGGTGGTAGAGTTGTCATCTTTCAACAGGAGCAGGAG
AACAAAATCCAGTCTCATAGCAGAGGAGAATATAATGTTTACAGCACCTTCCAGAGCCATGAACCAGAGTTTGACTACTTGAAAAGTTTAGAAATAGAAGAAAAG
ATCAACAAAATTAGGTGGTTACCCCAGAAAAATGCTGCTCAGTTTTTATTGTCTACCAATGATAAAACAATAAAATTATGGAAAATCAGTGAAAGGGACAAAAGA
CCAGAAGGGTATAACTTGAAAGAGGAGGATGGAAGGTATAGAGATCCTACTACAGTTACTACACTACGAGTGCCAGTCTTTAGGCCTATGGATCTAATGGTTGAG
GCCAGTCCACGAAGAATATTTGCCAATGCTCATACATATCACATCAACTCAATTTCTATTAATAGTGATTATGAAACATATTTATCTGCAGATGATTTGCGGATT
AATCTTTGGCATCTGGAAATTACAGACAGGAGTTTTAACATTGTGGATATCAAGCCTGCCAATATGGAAGAGCTAACAGAGGTGATTACAGCAGCAGAATTTCAT
CCAAACAGCTGTAACACATTTGTATACAGCAGCAGTAAAGGAACTATTCGGCTATGTGACATGAGGGCATCTGCCCTCTGTGATAGACATTCTAAATTGTTTGAA
GAACCTGAAGATCCCAGTAACAGGTCATTTTTTTCCGAAATCATCTCCTCTATTTCGGATGTAAAATTCAGCCATAGTGGTCGATATATGATGACTAGAGACTAT
TTGTCAGTCAAAATTTGGGACTTAAATATGGAAAACAGGCCTGTGGAAACATACCAGGTGCATGAATACCTCAGAAGTAAACTCTGTTCACTGTATGAAAATGAC
TGCATATTTGACAAATTTGAATGTTGTTGGAATGGATCTGACAGTGTTGTCATGACTGGATCTTACAATAATTTCTTCAGAATGTTTGACAGAAACACAAAGCGA
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>PPP2R2A|5520|protein
MFPKFSLRSMFHGAGGGNDIQWCFSQVKGAVDDDVAEADIISTVEFNHSGELLATGDKGGRVVIFQQEQENKIQSHSRGEYNVYSTFQSHEPEFDYLKSLEIEEK
INKIRWLPQKNAAQFLLSTNDKTIKLWKISERDKRPEGYNLKEEDGRYRDPTTVTTLRVPVFRPMDLMVEASPRRIFANAHTYHINSISINSDYETYLSADDLRI
NLWHLEITDRSFNIVDIKPANMEELTEVITAAEFHPNSCNTFVYSSSKGTIRLCDMRASALCDRHSKLFEEPEDPSNRSFFSEIISSISDVKFSHSGRYMMTRDY
LSVKIWDLNMENRPVETYQVHEYLRSKLCSLYENDCIFDKFECCWNGSDSVVMTGSYNNFFRMFDRNTKRDITLEASRENNKPRTVLKPRKVCASGKRKKDEISV
DSLDFNKKILHTAWHPKENIIAVATTNNLYIFQDKVN
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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 (4) 1 (1) 0 (0) 0 (0) 0 (0) 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
Papanikolaou, 2006 - FISHautism - - - - 1 - 1
Ozgen, 2009 - aCGH, SNP microarrayASD 55 - - - - - -
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top