AutismKB 2.0

Evidence Details for PPM1J


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Basic Information Top
Gene Symbol:PPM1J ( DKFZp434P1514,FLJ35951,MGC19531,MGC90149,PP2CZ,PP2Czeta,PPP2CZ )
Gene Full Name: protein phosphatase, Mg2+/Mn2+ dependent, 1J
Band: 1p13.2
Quick LinksEntrez ID:333926; OMIM: 609957; Uniprot ID:PPM1J_HUMAN; ENSEMBL ID: ENSG00000155367; HGNC ID: 20785
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPM1J|333926|nucleotide
ATGCTAAACCGGGTGCGCTCGGCCGTGGCGCACCTGGTGAGCTCCGGGGGCGCTCCGCCTCCGCGCCCCAAATCCCCGGACCTGCCCAACGCCGCCTCGGCGCCG
CCCGCCGCCGCTCCAGAAGCGCCCAGGAGCCCTCCCGCGAAGGCTGGGAGCGGGAGCGCGACGCCCGCGAAGGCTGTTGAGGCTCGAGCGAGCTTCTCCAGACCG
ACCTTTCTGCAGCTGAGCCCCGGGGGGCTGCGACGCGCCGATGACCACGCGGGCCGGGCTGTGCAAAGCCCCCCGGACACGGGCCGCCGCCTGCCCTGGAGCACA
GGCTACGCCGAGGTCATCAATGCTGGCAAGAGTCGGCACAATGAGGACCAGGCTTGCTGTGAAGTGGTGTATGTGGAAGGTCGGAGGAGTGTTACAGGAGTACCT
AGGGAGCCTAGCCGAGGCCAGGGACTCTGCTTCTACTACTGGGGCCTATTTGATGGGCATGCAGGGGGCGGAGCTGCTGAAATGGCCTCACGGCTCCTGCATCGC
CATATCCGAGAGCAGCTAAAGGACCTGGTAGAGATACTTCAGGACCCTTCGCCACCACCCCTCTGCCTCCCAACCACTCCGGGGACCCCAGATTCCTCCGATCCC
TCTCACTTGCTTGGCCCTCAGTCCTGCTGGTCTTCACAGAAGGAAGTGAGCCACGAGAGCCTGGTAGTGGGGGCCGTTGAGAATGCCTTCCAGCTCATGGATGAG
CAGATGGCCCGGGAGCGGCGTGGCCACCAAGTGGAGGGGGGCTGCTGTGCACTGGTTGTGATCTACCTGCTAGGCAAGGTGTACGTGGCCAATGCAGGCGATAGC
AGGGCCATCATTGTCCGGAATGGTGAAATCATTCCAATGTCCCGGGAGTTTACCCCGGAGACTGAGCGCCAGCGTCTTCAGCTGCTTGGCTTCCTGAAACCAGAG
CTGCTAGGCAGTGAATTCACCCACCTTGAGTTCCCCCGCAGAGTTCTGCCCAAGGAGCTGGGGCAGAGGATGTTGTACCGGGACCAGAACATGACCGGCTGGGCC
TACAAAAAGATCGAGCTGGAGGATCTCAGGTTTCCTCTGGTCTGTGGGGAGGGCAAAAAGGCTCGGGTGATGGCCACCATTGGGGTGACCCGAGGCTTGGGAGAC
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>PPM1J|333926|protein
MLNRVRSAVAHLVSSGGAPPPRPKSPDLPNAASAPPAAAPEAPRSPPAKAGSGSATPAKAVEARASFSRPTFLQLSPGGLRRADDHAGRAVQSPPDTGRRLPWST
GYAEVINAGKSRHNEDQACCEVVYVEGRRSVTGVPREPSRGQGLCFYYWGLFDGHAGGGAAEMASRLLHRHIREQLKDLVEILQDPSPPPLCLPTTPGTPDSSDP
SHLLGPQSCWSSQKEVSHESLVVGAVENAFQLMDEQMARERRGHQVEGGCCALVVIYLLGKVYVANAGDSRAIIVRNGEIIPMSREFTPETERQRLQLLGFLKPE
LLGSEFTHLEFPRRVLPKELGQRMLYRDQNMTGWAYKKIELEDLRFPLVCGEGKKARVMATIGVTRGLGDHSLKVCSSTLPIKPFLSCFPEVRVYDLTQYEHCPD
DVLVLGTDGLWDVTTDCEVAATVDRVLSAYEPNDHSRYTALAQALVLGARGTPRDRGWRLPNNKLGSGDDISVFVIPLGGPGSYS
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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) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (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