AutismKB 2.0

Annotation Detail for PCDHB9


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Basic Information Top
Gene Symbol:PCDHB9 ( MGC119555,MGC119556,PCDH-BETA9,PCDH3H )
Gene Full Name: protocadherin beta 9
Band: 5q31.3
Quick LinksEntrez ID:56127; OMIM: 606335; Uniprot ID:PCDB9_HUMAN; ENSEMBL ID: ENSG00000120324; HGNC ID: 8694
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
169N-linked (GlcNAc...) (Potential).
418N-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
567N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
34Phosphoserine(PKG)HMM predict
68Phosphoserine(CAMK2)HMM predict
166Phosphoserine(PKG)HMM predict
169N-linkedHMM predict
171O-linkedHMM predict
175N-linkedHMM predict
191Phosphotyrosine(EGFR)HMM predict
209Phosphoserine(CK1)HMM predict
219Phosphoserine(CDC2)HMM predict
265Phosphoserine(PKG)HMM predict
309Phosphotyrosine(INSR)HMM predict
355Phosphoserine(IKK)HMM predict
375Phosphoserine(CK1)HMM predict
413Phosphoserine(PKG)HMM predict
418N-linkedHMM predict
454O-linkedHMM predict
463N-linkedHMM predict
464N-linkedHMM predict
538Phosphoserine(IKK)HMM predict
542Phosphoserine(CK1)HMM predict
567N-linkedHMM predict
584Phosphotyrosine(Jak)HMM predict
653O-linkedHMM predict
670Phosphotyrosine(Jak)HMM predict
717Phosphoserine(PKA)HMM predict
786N-linkedHMM predict
791N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_018930
  • Location:chr5 140552135-140555396
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 140551984 140552170 186 59
CTCF CD4SISSRdata 140551984 140552170 186 59
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 140556707 140556736 29 1325
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 140551796 140552748 952 0
CTCF G2GSE9613 140553508 140554452 944 0
hScc1 BcellGSE12603 140553669 140554347 678 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