AutismKB 2.0

Evidence Details for PYDC2


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Basic Information Top
Gene Symbol:PYDC2 ( POP2,cPOP2 )
Gene Full Name: pyrin domain containing 2
Band: 3q28
Quick LinksEntrez ID:152138; OMIM: NA; Uniprot ID:PYDC2_HUMAN; ENSEMBL ID: ; HGNC ID: 33512
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PYDC2|152138|nucleotide
ATGGCATCTTCTGCAGAGCTGGACTTCAACCTGCAGGCTCTTCTGGAGCAGCTCAGCCAGGATGAGTTGAGCAAGTTCAAGTCTCTGATCAGAACAATCTCCCTG
GGAAAGGAGCTACAGACCGTCCCCCAGACAGAGGTAGACAAGGCTAATGGGAAGCAACTGGTAGAAATCTTCACCAGCCACTCCTGCAGCTACTGGGCAGGGATG
GCAGCCATCCAGGTCTTTGAAAAGATGAATCAAACGCATCTGTCTGGGAGAGCTGATGAACACTGTGTGATGCCCCCACCTTAA








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>PYDC2|152138|protein
MASSAELDFNLQALLEQLSQDELSKFKSLIRTISLGKELQTVPQTEVDKANGKQLVEIFTSHSCSYWAGMAAIQVFEKMNQTHLSGRADEHCVMPPP




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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) 1 (3) 0 (0) 0 (0) 0 (0) 0 (1) 0 (0) 0 (0) 0 (0) 2 (4)
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
Jacquemont, 2006 France aCGHASD - - - - 29 - 29
Bremer, 2011 - aCGHASD - - - - 223 - 223
Egger G, 2014 Austria Microarray--ASD 73 - - - 245 2357 -
Linkage Studies Top