AutismKB 2.0

Evidence Details for PPP2R5D


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Basic Information Top
Gene Symbol:PPP2R5D ( B56D,MGC2134,MGC8949 )
Gene Full Name: protein phosphatase 2, regulatory subunit B', delta
Band: 6p21.1
Quick LinksEntrez ID:5528; OMIM: 601646; Uniprot ID:2A5D_HUMAN; ENSEMBL ID: ENSG00000112640; HGNC ID: 9312
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPP2R5D|5528|nucleotide
ATGCCCTATAAACTGAAAAAGGAGAAGGAGCCCCCCAAGGTTGCCAAATGCACAGCCAAGCCTAGCAGCTCGGGCAAGGATGGTGGAGGCGAGAACACTGAGGAG
GCCCAGCCGCAGCCCCAGCCCCAGCCCCAGCCCCAAGCCCAGTCTCAGCCACCGTCATCCAACAAGCGTCCCAGCAATAGCACGCCGCCCCCCACGCAGCTCAGC
AAAATCAAGTACTCAGGGGGGCCCCAGATTGTCAAGAAGGAGCGACGGCAAAGCTCCTCCCGCTTCAACCTCAGCAAGAATCGGGAGCTGCAGAAGCTTCCTGCC
CTGAAAGATTCGCCAACCCAGGAGCGGGAGGAGCTGTTTATCCAGAAGCTACGCCAGTGCTGTGTCCTCTTTGACTTCGTGTCAGACCCACTCAGTGACCTCAAA
TTCAAGGAGGTGAAGCGGGCAGGACTCAACGAGATGGTGGAGTACATCACCCATAGCCGTGATGTTGTCACTGAGGCCATTTACCCTGAGGCTGTCACCATGTTT
TCAGTGAACCTCTTCCGGACGCTGCCACCTTCATCGAATCCCACAGGGGCTGAGTTTGACCCAGAGGAAGATGAGCCCACCCTGGAAGCTGCTTGGCCACATCTC
CAGCTCGTGTATGAGTTCTTCTTACGTTTCCTTGAGTCTCCTGATTTCCAGCCAAACATAGCCAAGAAGTACATCGACCAGAAGTTTGTACTTGCTCTCCTAGAC
CTATTTGACAGTGAGGATCCTCGAGAGCGGGACTTCCTCAAGACCATTTTGCATCGCATCTATGGCAAGTTTTTGGGGCTCCGGGCTTATATCCGTAGGCAGATC
AACCACATCTTCTACAGGTTCATCTACGAGACGGAGCATCACAACGGGATTGCTGAGCTCCTGGAGATCCTGGGCAGCATCATCAATGGCTTTGCCCTGCCCCTT
AAAGAAGAGCACAAGATGTTCCTCATCCGTGTCCTACTTCCCCTTCACAAGGTCAAGTCCCTGAGTGTCTACCACCCTCAGCTGGCATACTGTGTGGTACAATTC
CTGGAGAAGGAGAGCAGTCTGACTGAGCCGGTAATTGTGGGACTTCTCAAGTTTTGGCCCAAGACCCACAGCCCCAAGGAGGTGATGTTCTTGAATGAGCTGGAG
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>PPP2R5D|5528|protein
MPYKLKKEKEPPKVAKCTAKPSSSGKDGGGENTEEAQPQPQPQPQPQAQSQPPSSNKRPSNSTPPPTQLSKIKYSGGPQIVKKERRQSSSRFNLSKNRELQKLPA
LKDSPTQEREELFIQKLRQCCVLFDFVSDPLSDLKFKEVKRAGLNEMVEYITHSRDVVTEAIYPEAVTMFSVNLFRTLPPSSNPTGAEFDPEEDEPTLEAAWPHL
QLVYEFFLRFLESPDFQPNIAKKYIDQKFVLALLDLFDSEDPRERDFLKTILHRIYGKFLGLRAYIRRQINHIFYRFIYETEHHNGIAELLEILGSIINGFALPL
KEEHKMFLIRVLLPLHKVKSLSVYHPQLAYCVVQFLEKESSLTEPVIVGLLKFWPKTHSPKEVMFLNELEEILDVIEPSEFSKVMEPLFRQLAKCVSSPHFQVAE
RALYYWNNEYIMSLISDNAARVLPIMFPALYRNSKSHWNKTIHGLIYNALKLFMEMNQKLFDDCTQQYKAEKQKGRFRMKEREEMWQKIEELARLNPQYPMFRAP
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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) 0 (0) 2 (6) 0 (0) 0 (0) 1 (1) 32 (8)
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
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Linkage Studies Top