AutismKB 2.0

Evidence Details for PCDH15


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Basic Information Top
Gene Symbol:PCDH15 ( CDHR15,DFNB23,DKFZp667A1711,USH1F )
Gene Full Name: protocadherin-related 15
Band: 10q21.1
Quick LinksEntrez ID:65217; OMIM: 605514; Uniprot ID:PCD15_HUMAN; ENSEMBL ID: ENSG00000150275; HGNC ID: 14674
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>PCDH15|65217|nucleotide
ATGTTTCGACAGTTTTATCTCTGGACATGTTTAGCTTCAGGGATCATCCTGGGCTCTCTCTTTGAAATCTGCTTGGGCCAGTATGATGATGACTGGCAATATGAG
GATTGCAAACTAGCTAGGGGAGGACCACCAGCTACCATAGTTGCTATTGATGAAGAAAGTCGGAATGGTACAATTCTGGTGGACAACATGCTGATCAAAGGGACT
GCTGGAGGACCAGACCCCACCATAGAACTTTCTTTAAAGGATAATGTGGATTACTGGGTGTTGATGGATCCTGTTAAGCAAATGCTTTTCCTGAACAGCACCGGA
AGAGTTCTGGATAGAGATCCACCGATGAACATACACTCCATTGTGGTGCAGGTCCAGTGCATCAACAAAAAAGTGGGCACTATTATCTACCATGAAGTGCGAATA
GTGGTGAGAGACAGGAATGACAACTCACCCACTTTCAAGCATGAAAGCTACTATGCCACAGTGAATGAGCTCACTCCAGTTGGTACCACAATATTCACAGGATTT
TCAGGAGACAATGGAGCTACAGATATAGATGATGGACCAAATGGACAGATAGAGTATGTTATTCAGTATAATCCAGATGATCCGACATCCAATGACACCTTTGAA
ATTCCCCTAATGTTGACTGGAAATATAGTGTTAAGGAAGAGGCTCAACTATGAAGATAAGACTCGCTACTTTGTCATAATCCAAGCTAATGACCGTGCCCAAAAT
CTGAATGAGAGGCGAACCACCACCACCACTCTCACAGTGGATGTTCTGGATGGAGATGACTTGGGTCCAATGTTTCTTCCTTGTGTCCTTGTGCCAAACACTCGT
GATTGCCGTCCACTCACTTATCAAGCTGCCATACCTGAGTTGAGAACTCCGGAAGAACTGAACCCCATTATTGTTACGCCACCAATCCAAGCCATTGATCAGGAC
CGGAATATTCAACCGCCATCAGATAGGCCAGGAATCCTCTATTCCATCCTTGTTGGGACTCCTGAGGATTACCCACGATTTTTCCATATGCATCCTAGGACAGCA
GAACTTAGTCTCCTGGAGCCAGTAAACAGAGACTTTCACCAGAAATTTGATTTGGTTATTAAGGCTGAACAAGACAATGGTCATCCTCTTCCTGCCTTTGCCGGT
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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 1 (1) 1 (5) 0 (0) 0 (1) 0 (0) 0 (1) 0 (0) 0 (0) 1 (1) 16 (9)
Syndromic Autism Gene Top
Genome-Wide Association Studies (By Ethnic Group) Top
Family Based Association Studies: 1
Reference Stage Platform #Families Affecteds Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ
(range)
MIXED/OTHERS
Anney R, 2012_2 - Illumina Infinium 1M-single SNP microarray; Illumina 1M-duo microarray 2705 -
(-)
ASD -
-
-
-
Case Control Based Association Studies: 0
Reference Stage Platform ASD Cases Normal Controls Result
#Subjects
(% Women)
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
No Evidence.
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Sebat, 2007 USA aCGHautism 165 118 47 99 195 196 391
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Sanders, 2011 Simons Simplex Collection SNP microarray--ASD 1127 1127 - - - - -
Nord, 2011 US aCGH--ASD - - - - 41 367 408
Laplana M, 2014 - aCGHASD 1 - - - 1 5 6
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Family Based Association Studies: 0
Case Control Based Association Studies: 1
Reference Source Platfrom ASD Cases Normal Controls Result
ADI-R ADOS Diagnosis Age
(range)
IQ #Subjects
(% Women)
Age
(range)
MIXED/OTHERS
Ishizuka K, 2016_2 Japanese ABI PRISM 7900HT Sequence Detection System and TaqManASD 19.6
-
- 1917
(44.71%)
44.7
-
Large Scale Expression Studies Top
NGS de novo Mutation Studies Top
Reference Case Number Family Number de novo Number Title
Iossifov I, 2014 2508 - 1194 The contribution of de novo coding mutations to autism spectrum disorder.
NGS Mosaic SNV Studies Top
NGS Other Studies Top
Low Scale Gene Studies Top

Contact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018