AutismKB 2.0

Evidence Details for PTPN7


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Basic Information Top
Gene Symbol:PTPN7 ( BPTP-4,HEPTP,LC-PTP,LPTP,PTPNI )
Gene Full Name: protein tyrosine phosphatase, non-receptor type 7
Band: 1q32.1
Quick LinksEntrez ID:5778; OMIM: 176889; Uniprot ID:PTN7_HUMAN; ENSEMBL ID: ENSG00000143851; HGNC ID: 9659
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PTPN7|5778|nucleotide
ATGAACCGGCTGGGCTGCTGGCCCGCAAGGAGCCTGCCAAGGTCAGGCAGGGGCAGTGGGCAGAGGAGTCTTGGACTTGGGGGCCACCCTTCAGGTCCCAGGCAT
CCAGGCACCCCAGCAGCGAAGAGGACATGGGAGTCCCCTGGTGTGAGGGCCAGAGACTGTCCACTGTCTACCTCATGGCTGAGTGAGCCTCCCCTGGGCCCAGCA
CCCCACCTCAGCATGGTCCAAGCCCATGGGGGGCGCTCCAGAGCACAGCCGTTGACCTTGTCTTTGGGGGCAGCCATGACCCAGCCTCCGCCTGAAAAAACGCCA
GCCAAGAAGCATGTGCGACTGCAGGAGAGGCGGGGCTCCAATGTGGCTCTGATGCTGGACGTTCGGTCCCTGGGGGCCGTAGAACCCATCTGCTCTGTGAACACA
CCCCGGGAGGTCACCCTACACTTTCTGCGCACTGCTGGACACCCCCTTACCCGCTGGGCCCTTCAGCGCCAGCCACCCAGCCCCAAGCAACTGGAAGAAGAATTC
TTGAAGATCCCTTCAAACTTTGTCAGCCCCGAAGACCTGGACATCCCTGGCCACGCCTCCAAGGACCGATACAAGACCATCTTGCCAAATCCCCAGAGCCGTGTC
TGTCTAGGCCGGGCACAGAGCCAGGAGGACGGAGATTACATCAATGCCAACTACATCCGAGGCTATGACGGGAAGGAGAAGGTCTACATTGCCACCCAGGGCCCC
ATGCCCAACACTGTGTCGGACTTCTGGGAGATGGTGTGGCAAGAGGAAGTGTCCCTCATTGTCATGCTCACTCAGCTCCGAGAGGGCAAGGAGAAATGTGTCCAC
TACTGGCCCACAGAAGAGGAAACCTATGGACCCTTCCAGATCCGCATCCAGGACATGAAAGAGTGCCCAGAATACACTGTGCGGCAGCTCACCATCCAGTACCAG
GAAGAGCGCCGGTCAGTAAAGCACATCCTCTTTTCGGCCTGGCCAGACCATCAGACACCAGAATCAGCTGGGCCCCTGCTGCGCCTAGTGGCAGAGGTGGAGGAG
AGCCCGGAGACAGCCGCCCACCCCGGGCCTATCGTAGTCCACTGCAGTGCAGGGATTGGCCGGACGGGCTGCTTCATCGCCACGCGAATTGGCTGTCAACAGCTG
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>PTPN7|5778|protein
MNRLGCWPARSLPRSGRGSGQRSLGLGGHPSGPRHPGTPAAKRTWESPGVRARDCPLSTSWLSEPPLGPAPHLSMVQAHGGRSRAQPLTLSLGAAMTQPPPEKTP
AKKHVRLQERRGSNVALMLDVRSLGAVEPICSVNTPREVTLHFLRTAGHPLTRWALQRQPPSPKQLEEEFLKIPSNFVSPEDLDIPGHASKDRYKTILPNPQSRV
CLGRAQSQEDGDYINANYIRGYDGKEKVYIATQGPMPNTVSDFWEMVWQEEVSLIVMLTQLREGKEKCVHYWPTEEETYGPFQIRIQDMKECPEYTVRQLTIQYQ
EERRSVKHILFSAWPDHQTPESAGPLLRLVAEVEESPETAAHPGPIVVHCSAGIGRTGCFIATRIGCQQLKARGEVDILGIVCQLRLDRGGMIQTAEQYQFLHHT
LALYAGQLPEEPSP
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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) 1 (1) 0 (0) 0 (0) 0 (0) 10 (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
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Linkage Studies Top