AutismKB 2.0

Evidence Details for PPME1


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Basic Information Top
Gene Symbol:PPME1 ( FLJ22226,PME-1 )
Gene Full Name: protein phosphatase methylesterase 1
Band: 11q13.4
Quick LinksEntrez ID:51400; OMIM: 611117; Uniprot ID:PPME1_HUMAN; ENSEMBL ID: ENSG00000214517; HGNC ID: 30178
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PPME1|51400|nucleotide
ATGTCGGCCCTCGAAAAGAGCATGCACCTCGGCCGCCTTCCCTCTCGCCCACCTCTACCCGGCAGCGGGGGCAGTCAGAGCGGAGCCAAGATGCGAATGGGCCCT
GGAAGAAAGCGGGACTTTTCCCCTGTTCCTTGGAGTCAGTATTTTGAGTCCATGGAAGATGTAGAAGTAGAGAATGAAACTGGCAAGGATACTTTTCGAGTCTAC
AAGAGTGGTTCAGAGGGTCCAGTCCTGCTCCTTCTGCATGGAGGAGGTCATTCTGCCCTTTCTTGGGCTGTGTTCACGGCAGCGATTATTAGTAGAGTTCAGTGT
AGGATTGTAGCTTTGGATCTGCGAAGTCATGGTGAAACAAAGGTCAAGAATCCTGAAGATCTGTCTGCAGAAACAATGGCAAAAGACGTTGGCAATGTGGTTGAA
GCCATGTATGGGGACCTTCCTCCTCCAATTATGCTGATTGGACATAGCATGGGTGGTGCTATTGCAGTCCACACAGCATCATCCAACCTGGTACCAAGCCTCTTG
GGTCTGTGCATGATTGATGTTGTAGAAGGTACAGCTATGGATGCACTTAATAGCATGCAGAATTTCTTACGGGGTCGTCCTAAAACCTTCAAGTCTCTGGAGAAT
GCTATTGAATGGAGTGTGAAGAGTGGCCAGATTCGAAATCTGGAGTCTGCCCGTGTCTCAATGGTTGGCCAAGTCAAACAGTGTGAAGGAATTACAAGTCCAGAA
GGCTCAAAATCTATAGTGGAAGGAATCATAGAGGAAGAAGAAGAAGATGAGGAAGGAAGTGAGTCTATAAGCAAGAGGAAAAAGGAAGATGACATGGAGACCAAG
AAAGACCATCCATACACCTGGAGAATTGAACTGGCAAAAACAGAAAAATACTGGGACGGCTGGTTCCGAGGCTTATCCAATCTCTTTCTTAGTTGTCCCATTCCT
AAATTGCTGCTCTTGGCTGGTGTTGATAGATTGGATAAAGATCTGACCATTGGCCAGATGCAAGGGAAGTTCCAGATGCAGGTCCTACCCCAGTGTGGCCATGCA
GTCCATGAGGATGCCCCTGACAAGGTAGCTGAAGCTGTTGCCACTTTCCTGATCCGGCACAGGTTTGCAGAACCCATCGGTGGATTCCAGTGTGTGTTTCCTGGC
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>PPME1|51400|protein
MSALEKSMHLGRLPSRPPLPGSGGSQSGAKMRMGPGRKRDFSPVPWSQYFESMEDVEVENETGKDTFRVYKSGSEGPVLLLLHGGGHSALSWAVFTAAIISRVQC
RIVALDLRSHGETKVKNPEDLSAETMAKDVGNVVEAMYGDLPPPIMLIGHSMGGAIAVHTASSNLVPSLLGLCMIDVVEGTAMDALNSMQNFLRGRPKTFKSLEN
AIEWSVKSGQIRNLESARVSMVGQVKQCEGITSPEGSKSIVEGIIEEEEEDEEGSESISKRKKEDDMETKKDHPYTWRIELAKTEKYWDGWFRGLSNLFLSCPIP
KLLLLAGVDRLDKDLTIGQMQGKFQMQVLPQCGHAVHEDAPDKVAEAVATFLIRHRFAEPIGGFQCVFPGC

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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 (3) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 2 (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
Bucan, 2009 USA SNP microarrayautism, ASD 912 - 912 - - 1488 1488
Berkel, 2010 Canada SNP microarrayASD - - - - 396 5023 5419
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top