AutismKB 2.0

Evidence Details for PTPDC1


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Basic Information Top
Gene Symbol:PTPDC1 ( FLJ42922,PTP9Q22 )
Gene Full Name: protein tyrosine phosphatase domain containing 1
Band: 9q22.32
Quick LinksEntrez ID:138639; OMIM: NA; Uniprot ID:PTPC1_HUMAN; ENSEMBL ID: ENSG00000158079; HGNC ID: 30184
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PTPDC1|138639|nucleotide
ATGCAGGTGCAGGATGCAACCAGGCGGCCCTCAGCCGTGCGCTTCCTCAGCTCCTTTCTCCAGGGCCGCCGGCACTCCACCTCAGACCCAGTACTGCGGCTGCAG
CAGGCCCGGCGGGGCTCTGGCTTGGGCTCCGGCTCTGCCACGAAGCTGCTGTCCTCGTCCTCTCTCCAGGTGATGGTGGCTGTTTCCTCAGTCAGCCATGCAGAG
GGAAACCCAACTTTCCCCGAAAGAAAAAGAAATTTAGAACGTCCAACACCAAAGTACACAAAAGTAGGGGAGCGTTTACGGCATGTCATTCCTGGACACATGGCA
TGTTCCATGGCGTGTGGCGGTAGAGCTTGCAAGTATGAGAACCCAGCCCGCTGGAGTGAGCAGGAGCAAGCCATTAAGGGGGTTTACTCATCCTGGGTCACTGAT
AATATACTGGCCATGGCCCGCCCATCCTCTGAGCTCCTGGAGAAGTACCACATCATTGATCAGTTCCTCAGCCATGGCATAAAAACAATAATCAACCTCCAGCGC
CCTGGTGAGCATGCTAGCTGTGGGAACCCTCTGGAACAAGAAAGTGGCTTCACATACCTTCCTGAGGCTTTCATGGAGGCTGGCATTTACTTCTACAATTTCGGA
TGGAAGGATTATGGTGTAGCGTCTCTTACTACTATCCTAGATATGGTGAAGGTGATGACATTTGCCTTACAGGAAGGAAAAGTAGCTATCCATTGTCATGCAGGG
CTTGGTCGAACAGGTGTTTTAATAGCCTGTTACTTAGTTTTTGCAACGAGAATGACTGCTGACCAAGCAATTATATTTGTGCGGGCAAAGCGACCCAATTCCATA
CAAACCAGAGGACAGCTCCTCTGTGTAAGGGAATTTACTCAGTTTCTAACTCCTCTCCGCAATATATTCTCTTGCTGTGATCCCAAAGCACATGCTGTCACCTTA
CCTCAATATCTAATTCGCCAGCGTCATCTGCTTCATGGTTATGAGGCACGACTTCTGAAACACGTGCCAAAAATTATCCACCTAGTTTGCAAATTGCTGCTGGAC
TTAGCGGAGAACAGGCCAGTGATGATGAAGGATGTGTCCGAAGGACCTGGTCTCTCTGCTGAAATAGAAAAGACAATGTCTGAGATGGTCACCATGCAGCTGGAT
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>PTPDC1|138639|protein
MQVQDATRRPSAVRFLSSFLQGRRHSTSDPVLRLQQARRGSGLGSGSATKLLSSSSLQVMVAVSSVSHAEGNPTFPERKRNLERPTPKYTKVGERLRHVIPGHMA
CSMACGGRACKYENPARWSEQEQAIKGVYSSWVTDNILAMARPSSELLEKYHIIDQFLSHGIKTIINLQRPGEHASCGNPLEQESGFTYLPEAFMEAGIYFYNFG
WKDYGVASLTTILDMVKVMTFALQEGKVAIHCHAGLGRTGVLIACYLVFATRMTADQAIIFVRAKRPNSIQTRGQLLCVREFTQFLTPLRNIFSCCDPKAHAVTL
PQYLIRQRHLLHGYEARLLKHVPKIIHLVCKLLLDLAENRPVMMKDVSEGPGLSAEIEKTMSEMVTMQLDKELLRHDSDVSNPPNPTAVAADFDNRGMIFSNEQQ
FDPLWKRRNVECLQPLTHLKRRLSYSDSDLKRAENLLEQGETPQTVPAQILVGHKPRQQKLISHCYIPQSPEPDLHKEALVRSTLSFWSQSKFGGLEGLKDNGSP
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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 (1) 0 (0) 0 (0) 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
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top