AutismKB 2.0

Evidence Details for PI4KAP2


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Basic Information Top
Gene Symbol:PI4KAP2 ( FLJ44912,MGC31920 )
Gene Full Name: phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2
Band: 22q11.21
Quick LinksEntrez ID:375133; OMIM: NA; Uniprot ID:; ENSEMBL ID: ; HGNC ID: 33577
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
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Evidence summary Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
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 (7) 1 (1) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (8)
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
Roubertie, 2001 - FISHautism - - - - 1 - 1
Niklasson, 2002 Sweden FISHautism - - - - 1 - 1
Szatmari, 2007 Europe, North America SNP microarrayASD 1491 - - - - - 0
Ramelli, 2008 - FISHASD - - - - 1 - 1
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Bremer, 2011 - aCGHASD - - - - 223 - 223
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Linkage Studies Top