AutismKB 2.0

Annotation Detail for PCDHGB7


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Basic Information Top
Gene Symbol:PCDHGB7 ( ME6,PCDH-GAMMA-B7 )
Gene Full Name: protocadherin gamma subfamily B, 7
Band: 5q31.3
Quick LinksEntrez ID:56099; OMIM: 606304; Uniprot ID:PCDGJ_HUMAN; ENSEMBL ID: ENSG00000081853,ENSG00000240184,ENSG00000240764,EN; HGNC ID: 8714
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
419N-linked (GlcNAc...) (Potential).
545N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
419N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
545N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
177Phosphotyrosine(INSR)HMM predict
279Phosphotyrosine(SRC)HMM predict
401Phosphotyrosine(INSR)HMM predict
402Phosphotyrosine(Syk)HMM predict
415Phosphothreonine(MAPK)HMM predict
419N-linkedHMM predict
477Phosphoserine(ATM)HMM predict
502Phosphoserine(CK1)HMM predict
506Phosphoserine(CAMK2)HMM predict
539Phosphoserine(IKK)HMM predict
586Phosphotyrosine(Jak)HMM predict
655O-linkedHMM predict
680Phosphothreonine(MAPK)HMM predict
684Phosphoserine(ATM)HMM predict
691Phosphotyrosine(Syk)HMM predict
718Phosphoserine(IKK)HMM predict
720Phosphoserine(CDK)HMM predict
720Phosphoserine(CDC2)HMM predict
826Phosphoserine(ATM)HMM predict
854Phosphoserine(CK2)HMM predict
881Phosphothreonine(PKC)HMM predict
898N-linkedHMM predict
903N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_032101
  • Location:chr5 140777465-140780178
  • 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 140777184 140777746 562 0
CTCF G2GSE9613 140778968 140779654 686 0
H3K4me3 colorectalcancer 140777586 140779312 1726 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