AutismKB 2.0

Evidence Details for PTPN12


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Basic Information Top
Gene Symbol:PTPN12 ( PTP-PEST,PTPG1 )
Gene Full Name: protein tyrosine phosphatase, non-receptor type 12
Band: 7q11.23
Quick LinksEntrez ID:5782; OMIM: 600079; Uniprot ID:PTN12_HUMAN; ENSEMBL ID: ENSG00000127947; HGNC ID: 9645
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PTPN12|5782|nucleotide
ATGATATGGGAGTATAATGTTGTGATCATTGTAATGGCCTGCCGAGAATTTGAGATGGGAAGGAAAAAATGTGAGCGCTATTGGCCTTTGTATGGAGAAGACCCC
ATAACGTTTGCACCATTTAAAATTTCTTGTGAGGATGAACAAGCAAGAACAGACTACTTCATCAGGACACTCTTACTTGAATTTCAAAATGAATCTCGTAGGCTG
TATCAGTTTCATTATGTGAACTGGCCAGACCATGATGTTCCTTCATCATTTGATTCTATTCTGGACATGATAAGCTTAATGAGGAAATATCAAGAACATGAAGAT
GTTCCTATTTGTATTCATTGCAGTGCAGGCTGTGGAAGAACAGGTGCCATTTGTGCCATAGATTATACGTGGAATTTACTAAAAGCTGGGAAAATACCAGAGGAA
TTTAATGTATTTAATTTAATACAAGAAATGAGAACACAAAGGCATTCTGCAGTACAAACAAAGGAGCAATATGAACTTGTTCATAGAGCTATTGCCCAACTGTTT
GAAAAACAGCTACAACTATATGAAATTCATGGAGCTCAGAAAATTGCTGATGGAGTGAATGAAATTAACACTGAAAACATGGTCAGCTCCATAGAGCCTGAAAAA
CAAGATTCTCCTCCTCCAAAACCACCAAGGACCCGCAGTTGCCTTGTTGAAGGGGATGCTAAAGAAGAAATACTGCAGCCACCGGAACCTCATCCAGTGCCACCC
ATCTTGACACCTTCTCCCCCTTCAGCTTTTCCAACAGTCACTACTGTGTGGCAGGACAATGATAGATACCATCCAAAGCCAGTGTTGCATATGGTTTCATCAGAA
CAACATTCAGCAGACCTCAACAGAAACTATAGTAAATCAACAGAACTTCCAGGGAAAAATGAATCAACAATTGAACAGATAGATAAAAAATTGGAACGAAATTTA
AGTTTTGAGATTAAGAAGGTCCCTCTCCAAGAGGGACCAAAAAGTTTTGATGGGAACACACTTTTGAATAGGGGACATGCAATTAAAATTAAATCTGCTTCACCT
TGTATAGCTGATAAAATCTCTAAGCCACAGGAATTAAGTTCAGATCTAAATGTCGGTGATACTTCCCAGAATTCTTGTGTGGACTGCAGTGTAACACAATCAAAC
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>PTPN12|5782|protein
MIWEYNVVIIVMACREFEMGRKKCERYWPLYGEDPITFAPFKISCEDEQARTDYFIRTLLLEFQNESRRLYQFHYVNWPDHDVPSSFDSILDMISLMRKYQEHED
VPICIHCSAGCGRTGAICAIDYTWNLLKAGKIPEEFNVFNLIQEMRTQRHSAVQTKEQYELVHRAIAQLFEKQLQLYEIHGAQKIADGVNEINTENMVSSIEPEK
QDSPPPKPPRTRSCLVEGDAKEEILQPPEPHPVPPILTPSPPSAFPTVTTVWQDNDRYHPKPVLHMVSSEQHSADLNRNYSKSTELPGKNESTIEQIDKKLERNL
SFEIKKVPLQEGPKSFDGNTLLNRGHAIKIKSASPCIADKISKPQELSSDLNVGDTSQNSCVDCSVTQSNKVSVTPPEESQNSDTPPRPDRLPLDEKGHVTWSFH
GPENAIPIPDLSEGNSSDINYQTRKTVSLTPSPTTQVETPDLVDHDNTSPLFRTPLSFTNPLHSDDSDSDERNSDGAVTQNKTNISTASATVSAATSTESISTRK
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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 (0) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 0 (1)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Linkage Studies Top