AutismKB 2.0

Annotation Detail for PCDHGB1


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Basic Information Top
Gene Symbol:PCDHGB1 ( MGC119466,MGC119467,MGC119469,PCDH-GAMMA-B1 )
Gene Full Name: protocadherin gamma subfamily B, 1
Band: 5q31
Quick LinksEntrez ID:56104; OMIM: 606299; Uniprot ID:PCDGD_HUMAN; ENSEMBL ID: ENSG00000081853,ENSG00000240184,ENSG00000240764,EN; HGNC ID: 8708
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
41N-linked (GlcNAc...) (Potential).
73N-linked (GlcNAc...) (Potential).
300N-linked (GlcNAc...) (Potential).
415N-linked (GlcNAc...) (Potential).
541N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
41N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
73N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
300N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
415N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
541N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
12Phosphoserine(ATM)HMM predict
41N-linkedHMM predict
67Phosphoserine(PKG)HMM predict
182Phosphoserine(CDC2)HMM predict
182Phosphoserine(IKK)HMM predict
230Phosphothreonine(PKA)HMM predict
300N-linkedHMM predict
397Phosphotyrosine(Jak)HMM predict
415N-linkedHMM predict
433Phosphoserine(CK1)HMM predict
486Phosphoserine(IKK)HMM predict
504Phosphoserine(CDC2)HMM predict
535Phosphoserine(IKK)HMM predict
582Phosphotyrosine(Jak)HMM predict
624Phosphothreonine(PKC)HMM predict
651O-linkedHMM predict
715Phosphoserine(PKC)HMM predict
716Phosphoserine(PKB)HMM predict
716Phosphoserine(CAMK2)HMM predict
740O-linkedHMM predict
801Phosphoserine(CK1)HMM predict
824Phosphoserine(ATM)HMM predict
852Phosphoserine(CK2)HMM predict
879Phosphothreonine(PKC)HMM predict
896N-linkedHMM predict
901N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018922
  • Location:chr5 140710011-140872729
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 140714823 140715046 223 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