AutismKB 2.0

Evidence Details for PTPRC


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Basic Information Top
Gene Symbol:PTPRC ( B220,CD45,CD45R,GP180,LCA,LY5,T200 )
Gene Full Name: protein tyrosine phosphatase, receptor type, C
Band: 1q31.3-q32.1
Quick LinksEntrez ID:5788; OMIM: 151460; Uniprot ID:PTPRC_HUMAN; ENSEMBL ID: ENSG00000081237; HGNC ID: 9666
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PTPRC|5788|nucleotide
ATGTATTTGTGGCTTAAACTCTTGGCATTTGGCTTTGCCTTTCTGGACACAGAAGTATTTGTGACAGGGCAAAGCCCAACACCTTCCCCCACTGGATTGACTACA
GCAAAGATGCCCAGTGTTCCACTTTCAAGTGACCCCTTACCTACTCACACCACTGCATTCTCACCCGCAAGCACCTTTGAAAGAGAAAATGACTTCTCAGAGACC
ACAACTTCTCTTAGTCCAGACAATACTTCCACCCAAGTATCCCCGGACTCTTTGGATAATGCTAGTGCTTTTAATACCACAGGTGTTTCATCAGTACAGACGCCT
CACCTTCCCACGCACGCAGACTCGCAGACGCCCTCTGCTGGAACTGACACGCAGACATTCAGCGGCTCCGCCGCCAATGCAAAACTCAACCCTACCCCAGGCAGC
AATGCTATCTCAGATGTCCCAGGAGAGAGGAGTACAGCCAGCACCTTTCCTACAGACCCAGTTTCCCCATTGACAACCACCCTCAGCCTTGCACACCACAGCTCT
GCTGCCTTACCTGCACGCACCTCCAACACCACCATCACAGCGAACACCTCAGATGCCTACCTTAATGCCTCTGAAACAACCACTCTGAGCCCTTCTGGAAGCGCT
GTCATTTCAACCACAACAATAGCTACTACTCCATCTAAGCCAACATGTGATGAAAAATATGCAAACATCACTGTGGATTACTTATATAACAAGGAAACTAAATTA
TTTACAGCAAAGCTAAATGTTAATGAGAATGTGGAATGTGGAAACAATACTTGCACAAACAATGAGGTGCATAACCTTACAGAATGTAAAAATGCGTCTGTTTCC
ATATCTCATAATTCATGTACTGCTCCTGATAAGACATTAATATTAGATGTGCCACCAGGGGTTGAAAAGTTTCAGTTACATGATTGTACACAAGTTGAAAAAGCA
GATACTACTATTTGTTTAAAATGGAAAAATATTGAAACCTTTACTTGTGATACACAGAATATTACCTACAGATTTCAGTGTGGTAATATGATATTTGATAATAAA
GAAATTAAATTAGAAAACCTTGAACCCGAACATGAGTATAAGTGTGACTCAGAAATACTCTATAATAACCACAAGTTTACTAACGCAAGTAAAATTATTAAAACA
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>PTPRC|5788|protein
MYLWLKLLAFGFAFLDTEVFVTGQSPTPSPTGLTTAKMPSVPLSSDPLPTHTTAFSPASTFERENDFSETTTSLSPDNTSTQVSPDSLDNASAFNTTGVSSVQTP
HLPTHADSQTPSAGTDTQTFSGSAANAKLNPTPGSNAISDVPGERSTASTFPTDPVSPLTTTLSLAHHSSAALPARTSNTTITANTSDAYLNASETTTLSPSGSA
VISTTTIATTPSKPTCDEKYANITVDYLYNKETKLFTAKLNVNENVECGNNTCTNNEVHNLTECKNASVSISHNSCTAPDKTLILDVPPGVEKFQLHDCTQVEKA
DTTICLKWKNIETFTCDTQNITYRFQCGNMIFDNKEIKLENLEPEHEYKCDSEILYNNHKFTNASKIIKTDFGSPGEPQIIFCRSEAAHQGVITWNPPQRSFHNF
TLCYIKETEKDCLNLDKNLIKYDLQNLKPYTKYVLSLHAYIIAKVQRNGSAAMCHFTTKSAPPSQVWNMTVSMTSDNSMHVKCRPPRDRNGPHERYHLEVEAGNT
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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