AutismKB 2.0

Annotation Detail for PCDHB4


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Basic Information Top
Gene Symbol:PCDHB4 ( PCDH-BETA4 )
Gene Full Name: protocadherin beta 4
Band: 5q31.3
Quick LinksEntrez ID:56131; OMIM: 606330; Uniprot ID:PCDB4_HUMAN; ENSEMBL ID: ENSG00000081818; HGNC ID: 8689
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
183N-linked (GlcNAc...) (Potential).
417N-linked (GlcNAc...) (Potential).
435N-linked (GlcNAc...) (Potential).
566N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
183N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
417N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
435N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
566N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
172Phosphoserine(ATM)HMM predict
185Phosphoserine(CAMK2)HMM predict
208Phosphoserine(CK1)HMM predict
246Phosphotyrosine(Abl)HMM predict
354Phosphoserine(IKK)HMM predict
417N-linkedHMM predict
435N-linkedHMM predict
453O-linkedHMM predict
462N-linkedHMM predict
463N-linkedHMM predict
537Phosphoserine(IKK)HMM predict
541Phosphoserine(CK1)HMM predict
566N-linkedHMM predict
583Phosphotyrosine(Jak)HMM predict
652O-linkedHMM predict
669Phosphotyrosine(Jak)HMM predict
716Phosphoserine(PKA)HMM predict
745Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018938
  • Location:chr5 140481764-140485384
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 140475991 140476041 50 5749
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 140487211 140487462 251 1952
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 140483095 140483837 742 0
H3K4me3 colorectalcancer 140482906 140483472 566 0
hScc1 BcellGSE12603 140483030 140483799 769 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