AutismKB 2.0

Evidence Details for PTPN13


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Basic Information Top
Gene Symbol:PTPN13 ( DKFZp686J1497,FAP-1,PNP1,PTP-BAS,PTP-BL,PTP1E,PTPL1,PTPLE )
Gene Full Name: protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)
Band: 4q21.3
Quick LinksEntrez ID:5783; OMIM: 600267; Uniprot ID:PTN13_HUMAN; ENSEMBL ID: ENSG00000163629; HGNC ID: 9646
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PTPN13|5783|nucleotide
ATGCACGTGTCACTAGCTGAGGCCCTGGAGGTTCGGGGTGGACCACTTCAGGAGGAAGAAATATGGGCTGTATTAAATCAAAGTGCTGAAAGTCTCCAAGAATTA
TTCAGAAAAGTAAGCCTAGCTGATCCTGCTGCCCTTGGCTTCATCATTTCTCCATGGTCTCTGCTGTTGCTGCCATCTGGTAGTGTGTCATTTACAGATGAAAAT
ATTTCCAATCAGGATCTTCGAGCATTCACTGCACCAGAGGTTCTTCAAAATCAGTCACTAACTTCTCTCTCAGATGTTGAAAAGATCCACATTTATTCTCTTGGA
ATGACACTGTATTGGGGGGCTGATTATGAAGTGCCTCAGAGCCAACCTATTAAGCTTGGAGATCATCTCAACAGCATACTGCTTGGAATGTGTGAGGATGTTATT
TACGCTCGAGTTTCTGTTCGGACTGTGCTGGATGCTTGCAGTGCCCACATTAGGAATAGCAATTGTGCACCCTCATTTTCCTACGTGAAACACTTGGTAAAACTG
GTTCTGGGAAATCTTTCTGGGACAGATCAGCTTTCCTGTAACAGTGAACAAAAGCCTGATCGAAGCCAGGCTATTCGAGATCGATTGCGAGGAAAAGGATTACCA
ACAGGAAGAAGCTCTACTTCTGATGTACTAGACATACAAAAGCCTCCACTCTCTCATCAGACCTTTCTTAACAAAGGGCTTAGTAAATCTATGGGATTTCTGTCC
ATCAAAGATACACAAGATGAGAATTATTTCAAGGACATTTTATCAGATAATTCTGGACGTGAAGATTCTGAAAATACATTCTCCCCTTACCAGTTCAAAACTAGT
GGCCCAGAAAAAAAACCCATCCCTGGCATTGATGTGCTTTCTAAGAAGAAGATCTGGGCTTCATCCATGGACTTGCTTTGTACAGCTGACAGAGACTTCTCTTCA
GGAGAGACTGCCACATATCGTCGTTGTCACCCTGAGGCAGTAACAGTGCGGACTTCAACTACTCCTAGAAAAAAGGAGGCAAGATACTCAGATGGAAGTATAGCC
TTGGATATCTTTGGCCCTCAGAAAATGGATCCAATATATCACACTCGAGAATTGCCCACCTCCTCAGCAATATCAAGTGCTTTGGACCGAATCCGAGAGAGACAA
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>PTPN13|5783|protein
MHVSLAEALEVRGGPLQEEEIWAVLNQSAESLQELFRKVSLADPAALGFIISPWSLLLLPSGSVSFTDENISNQDLRAFTAPEVLQNQSLTSLSDVEKIHIYSLG
MTLYWGADYEVPQSQPIKLGDHLNSILLGMCEDVIYARVSVRTVLDACSAHIRNSNCAPSFSYVKHLVKLVLGNLSGTDQLSCNSEQKPDRSQAIRDRLRGKGLP
TGRSSTSDVLDIQKPPLSHQTFLNKGLSKSMGFLSIKDTQDENYFKDILSDNSGREDSENTFSPYQFKTSGPEKKPIPGIDVLSKKKIWASSMDLLCTADRDFSS
GETATYRRCHPEAVTVRTSTTPRKKEARYSDGSIALDIFGPQKMDPIYHTRELPTSSAISSALDRIRERQKKLQVLREAMNVEEPVRRYKTYHGDVFSTSSESPS
IISSESDFRQVRRSEASKRFESSSGLPGVDETLSQGQSQRPSRQYETPFEGNLINQEIMLKRQEEELMQLQAKMALRQSRLSLYPGDTIKASMLDITRDPLREIA
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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) 1 (1) 0 (0) 0 (0) 0 (2) 0 (0) 0 (0) 0 (0) 2 (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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Linkage Studies Top