AutismKB 2.0

Annotation Detail for PCDHB7


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Basic Information Top
Gene Symbol:PCDHB7 ( MGC111391,MGC163205,PCDH-BETA7 )
Gene Full Name: protocadherin beta 7
Band: 5q31.3
Quick LinksEntrez ID:56129; OMIM: 606333; Uniprot ID:PCDB7_HUMAN; ENSEMBL ID: ENSG00000113212; HGNC ID: 8692
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
169N-linked (GlcNAc...) (Potential).
418N-linked (GlcNAc...) (Potential).
436N-linked (GlcNAc...) (Potential).
567N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
169N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
418N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
436N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
567N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
64Phosphothreonine(PKA)HMM predict
169N-linkedHMM predict
175N-linkedHMM predict
191Phosphotyrosine(EGFR)HMM predict
223O-linkedHMM predict
285Phosphothreonine(PKC)HMM predict
295N-linkedHMM predict
309Phosphotyrosine(Syk)HMM predict
354PhosphoserineHMM predict
354Phosphoserine(MAPK)HMM predict
418N-linkedHMM predict
436N-linkedHMM predict
454O-linkedHMM predict
463N-linkedHMM predict
464N-linkedHMM predict
465Phosphoserine(CDC2)HMM predict
493Phosphoserine(ATM)HMM predict
538Phosphoserine(IKK)HMM predict
542Phosphoserine(CK1)HMM predict
567N-linkedHMM predict
584Phosphotyrosine(Jak)HMM predict
653O-linkedHMM predict
670Phosphotyrosine(Jak)HMM predict
715Phosphoserine(PKA)HMM predict
744Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018940
  • Location:chr5 140532426-140536139
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 140532246 140532448 202 80
USF2 HepG2E 140525110 140525258 148 7243
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 140532234 140532849 615 0
CTCF G2GSE9613 140534040 140534644 604 0
hScc1 BcellGSE12603 140533804 140534488 684 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