AutismKB 2.0

Evidence Details for PTPLAD2


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Basic Information Top
Gene Symbol:PTPLAD2 ( DKFZp686F01145,DKFZp686G24132,HACD4 )
Gene Full Name: protein tyrosine phosphatase-like A domain containing 2
Band: 9p21.3
Quick LinksEntrez ID:401494; OMIM: NA; Uniprot ID:HACD4_HUMAN; ENSEMBL ID: ENSG00000188921; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PTPLAD2|401494|nucleotide
ATGGGGCCCTTGGCGCTGCCCGCCTGGCTGCAGCCCAGGTATAGGAAGAATGCGTATCTTTTCATCTATTACTTAATCCAGTTCTGTGGCCACTCTTGGATATTT
ACAAATATGACAGTCAGATTCTTTTCATTTGGAAAAGATTCAATGGTTGACACTTTTTATGCTATTGGACTTGTGATGCGACTTTGCCAATCCGTATCTCTCCTG
GAACTGCTGCACATATATGTTGGCATTGAGTCAAACCATCTTCTCCCAAGGTTTTTGCAGCTCACAGAAAGAATAATCATCCTTTTTGTGGTGATCACCAGTCAA
GAGGAAGTCCAAGAGAAATATGTGGTGTGTGTTTTATTCGTCTTTTGGAATCTATTGGATATGGTTAGGTACACTTATAGCATGTTATCAGTCATAGGAATATCC
TATGCTGTCTTGACATGGCTCAGTCAAACACTATGGATGCCAATTTATCCTTTGTGTGTTCTTGCTGAAGCATTTGCCATCTATCAATCGCTGCCTTATTTTGAA
TCATTTGGCACTTATTCCACCAAGCTGCCCTTTGACTTATCCATCTATTTCCCATATGTGCTGAAAATATATCTCATGATGCTCTTTATAGGTATGTATTTTACC
TACAGTCATCTATACTCAGAAAGAAGAGACATCCTCGGAATCTTTCCCATTAAAAAAAAGAAGATGTGA




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>PTPLAD2|401494|protein
MGPLALPAWLQPRYRKNAYLFIYYLIQFCGHSWIFTNMTVRFFSFGKDSMVDTFYAIGLVMRLCQSVSLLELLHIYVGIESNHLLPRFLQLTERIIILFVVITSQ
EEVQEKYVVCVLFVFWNLLDMVRYTYSMLSVIGISYAVLTWLSQTLWMPIYPLCVLAEAFAIYQSLPYFESFGTYSTKLPFDLSIYFPYVLKIYLMMLFIGMYFT
YSHLYSERRDILGIFPIKKKKM


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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 (1) 0 (0) 0 (0) 0 (0) 2 (3)
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
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Linkage Studies Top