AutismKB 2.0

Evidence Details for PPM1D


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Basic Information Top
Gene Symbol:PPM1D ( PP2C-DELTA,WIP1 )
Gene Full Name: protein phosphatase, Mg2+/Mn2+ dependent, 1D
Band: 17q23.3
Quick LinksEntrez ID:8493; OMIM: 605100; Uniprot ID:PPM1D_HUMAN; ENSEMBL ID: ENSG00000170836; HGNC ID: 9277
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPM1D|8493|nucleotide
ATGGCGGGGCTGTACTCGCTGGGAGTGAGCGTCTTCTCCGACCAGGGCGGGAGGAAGTACATGGAGGACGTTACTCAAATCGTTGTGGAGCCCGAACCGACGGCT
GAAGAAAAGCCCTCGCCGCGGCGGTCGCTGTCTCAGCCGTTGCCTCCGCGGCCGTCGCCGGCCGCCCTTCCCGGCGGCGAAGTCTCGGGGAAAGGCCCAGCGGTG
GCAGCCCGAGAGGCTCGCGACCCTCTCCCGGACGCCGGGGCCTCGCCGGCACCTAGCCGCTGCTGCCGCCGCCGTTCCTCCGTGGCCTTTTTCGCCGTGTGCGAC
GGGCACGGCGGGCGGGAGGCGGCACAGTTTGCCCGGGAGCACTTGTGGGGTTTCATCAAGAAGCAGAAGGGTTTCACCTCGTCCGAGCCGGCTAAGGTTTGCGCT
GCCATCCGCAAAGGCTTTCTCGCTTGTCACCTTGCCATGTGGAAGAAACTGGCGGAATGGCCAAAGACTATGACGGGTCTTCCTAGCACATCAGGGACAACTGCC
AGTGTGGTCATCATTCGGGGCATGAAGATGTATGTAGCTCACGTAGGTGACTCAGGGGTGGTTCTTGGAATTCAGGATGACCCGAAGGATGACTTTGTCAGAGCT
GTGGAGGTGACACAGGACCATAAGCCAGAACTTCCCAAGGAAAGAGAACGAATCGAAGGACTTGGTGGGAGTGTAATGAACAAGTCTGGGGTGAATCGTGTAGTT
TGGAAACGACCTCGACTCACTCACAATGGACCTGTTAGAAGGAGCACAGTTATTGACCAGATTCCTTTTCTGGCAGTAGCAAGAGCACTTGGTGATTTGTGGAGC
TATGATTTCTTCAGTGGTGAATTTGTGGTGTCACCTGAACCAGACACAAGTGTCCACACTCTTGACCCTCAGAAGCACAAGTATATTATATTGGGGAGTGATGGA
CTTTGGAATATGATTCCACCACAAGATGCCATCTCAATGTGCCAGGACCAAGAGGAGAAAAAATACCTGATGGGTGAGCATGGACAATCTTGTGCCAAAATGCTT
GTGAATCGAGCATTGGGCCGCTGGAGGCAGCGTATGCTCCGAGCAGATAACACTAGTGCCATAGTAATCTGCATCTCTCCAGAAGTGGACAATCAGGGAAACTTT
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>PPM1D|8493|protein
MAGLYSLGVSVFSDQGGRKYMEDVTQIVVEPEPTAEEKPSPRRSLSQPLPPRPSPAALPGGEVSGKGPAVAAREARDPLPDAGASPAPSRCCRRRSSVAFFAVCD
GHGGREAAQFAREHLWGFIKKQKGFTSSEPAKVCAAIRKGFLACHLAMWKKLAEWPKTMTGLPSTSGTTASVVIIRGMKMYVAHVGDSGVVLGIQDDPKDDFVRA
VEVTQDHKPELPKERERIEGLGGSVMNKSGVNRVVWKRPRLTHNGPVRRSTVIDQIPFLAVARALGDLWSYDFFSGEFVVSPEPDTSVHTLDPQKHKYIILGSDG
LWNMIPPQDAISMCQDQEEKKYLMGEHGQSCAKMLVNRALGRWRQRMLRADNTSAIVICISPEVDNQGNFTNEDELYLNLTDSPSYNSQETCVMTPSPCSTPPVK
SLEEDPWPRVNSKDHIPALVRSNAFSENFLEVSAEIARENVQGVVIPSKDPEPLEENCAKALTLRIHDSLNNSLPIGLVPTNSTNTVMDQKNLKMSTPGQMKAQE
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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) 1 (1) 0 (0) 0 (0) 0 (1) 0 (1) 0 (0) 0 (0) 4 (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
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Linkage Studies Top