AutismKB 2.0

Evidence Details for RPL23AP82


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Basic Information Top
Gene Symbol:RPL23AP82 ( MGC70863,RPL23A_43_1761 )
Gene Full Name: ribosomal protein L23a pseudogene 82
Band: 22q13.33
Quick LinksEntrez ID:284942; OMIM: NA; Uniprot ID:; ENSEMBL ID: ; HGNC ID: 33730
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
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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) 2 (7) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) 4 (7)
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
Goizet, 2000 - FISHautism - - - - 1 - 1
Prasad, 2000 - FISHautism - - - - 1 - 1
Wassink, 2001 USA Chromosomal analysis of G-bandautism - - - - 278 - 278
Marshall, 2008 - SNP microarrayASD 427 238 189 - 427 500 927
Zwaag, 2009 - SNP microarrayautism - - - - 105 267 372
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Chen, 2011 - FISH, aCGH--autism - - - - 1 - 1
Linkage Studies Top