AutismKB 2.0

Annotation Detail for PCDHA5


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Basic Information Top
Gene Symbol:PCDHA5 ( CNR6,CNRN6,CNRS6,CRNR6,PCDH-ALPHA5 )
Gene Full Name: protocadherin alpha 5
Band: 5q31.3
Quick LinksEntrez ID:56143; OMIM: 606311; Uniprot ID:PCDA5_HUMAN; ENSEMBL ID: ENSG00000081842,ENSG00000204965,ENSG00000239389,EN; HGNC ID: 8671
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
264N-linked (GlcNAc...) (Potential).
547N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
264N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
547N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
8Phosphoserine(CAMK2)HMM predict
8Phosphoserine(PKA)HMM predict
176Phosphotyrosine(INSR)HMM predict
204Phosphothreonine(PKC)HMM predict
246Phosphotyrosine(Syk)HMM predict
264N-linkedHMM predict
309Phosphotyrosine(Syk)HMM predict
312Phosphotyrosine(Syk)HMM predict
314PhosphoserineHMM predict
346Phosphothreonine(MAPK)HMM predict
439O-linkedHMM predict
508Phosphoserine(CK2)HMM predict
547N-linkedHMM predict
632Phosphothreonine(PKC)HMM predict
635Phosphoserine(IKK)HMM predict
635Phosphoserine(PKA)HMM predict
659O-linkedHMM predict
661O-linkedHMM predict
663O-linkedHMM predict
678O-linkedHMM predict
679O-linkedHMM predict
708O-linkedHMM predict
780O-linkedHMM predict
782O-linkedHMM predict
827O-linkedHMM predict
827O-linkedHMM predict
829O-linkedHMM predict
832Phosphothreonine(MAPK)HMM predict
832O-linkedHMM predict
908Phosphothreonine(PKC)HMM predict
918N-linkedHMM predict
928N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018908
  • Location:chr5 140181544-140372112
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 140186656 140186693 37 0
Validated miRNA targets Top
Cis-Nats regulation Top

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