AutismKB 2.0

Annotation Detail for PCDHB8


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PCDHB8 ( PCDH-BETA8,PCDH3I )
Gene Full Name: protocadherin beta 8
Band: 5q31.3
Quick LinksEntrez ID:56128; OMIM: 606334; Uniprot ID:PCDB8_HUMAN; ENSEMBL ID: ENSG00000120322; HGNC ID: 8693
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
419N-linked (GlcNAc...) (Potential).
437N-linked (GlcNAc...) (Potential).
568N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
419N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
437N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
568N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
34Phosphotyrosine(SRC)HMM predict
35Phosphoserine(IKK)HMM predict
174Phosphoserine(MAPK)HMM predict
183Phosphothreonine(PKC)HMM predict
224O-linkedHMM predict
349O-linkedHMM predict
376Phosphoserine(CK1)HMM predict
419N-linkedHMM predict
437N-linkedHMM predict
455O-linkedHMM predict
464N-linkedHMM predict
465N-linkedHMM predict
539Phosphoserine(IKK)HMM predict
543Phosphoserine(CK1)HMM predict
568N-linkedHMM predict
585Phosphotyrosine(Jak)HMM predict
654O-linkedHMM predict
671Phosphotyrosine(Jak)HMM predict
718Phosphoserine(PKA)HMM predict
745Phosphoserine(IKK)HMM predict
747Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_019120
  • Location:chr5 140537613-140540202
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 140537285 140537779 494 82
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 140539168 140539878 710 0
H3K4me3 colorectalcancer 140537741 140539802 2061 0
hScc1 BcellGSE12603 140539086 140539993 907 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