AutismKB 2.0

Annotation Detail for PCDHGA6


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Basic Information Top
Gene Symbol:PCDHGA6 ( PCDH-GAMMA-A6 )
Gene Full Name: protocadherin gamma subfamily A, 6
Band: 5q31
Quick LinksEntrez ID:56109; OMIM: 606293; Uniprot ID:PCDG6_HUMAN; ENSEMBL ID: ENSG00000081853,ENSG00000240184,ENSG00000240764,EN; HGNC ID: 8704
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
81N-linked (GlcNAc...) (Potential).
419N-linked (GlcNAc...) (Potential).
545N-linked (GlcNAc...) (Potential).
685N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
81N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
419N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
545N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
685N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
Location(AA) Modification Resource
69MethylarginineHMM predict
149Phosphoserine(CDK)HMM predict
191Phosphotyrosine(EGFR)HMM predict
279Phosphotyrosine(SRC)HMM predict
303Phosphothreonine(CK2)HMM predict
309SulfotyrosineHMM predict
419N-linkedHMM predict
425O-linkedHMM predict
458Phosphoserine(CK1)HMM predict
470Phosphoserine(PKB)HMM predict
522Phosphotyrosine(Jak)HMM predict
522Phosphotyrosine(EGFR)HMM predict
537Phosphoserine(ATM)HMM predict
586Phosphotyrosine(Jak)HMM predict
628Phosphothreonine(PKC)HMM predict
657O-linkedHMM predict
659O-linkedHMM predict
685N-linkedHMM predict
785Phosphotyrosine(EGFR)HMM predict
829Phosphoserine(ATM)HMM predict
857Phosphoserine(CK2)HMM predict
884Phosphothreonine(PKC)HMM predict
901N-linkedHMM predict
906N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_032086
  • Location:chr5 140733834-140736288
  • 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 140734918 140736151 1233 0
ER Fulvestrant-MCF7GSE14664 140734620 140734653 33 0
Oct1 HelaGSE14283 140734619 140734654 35 0
Oct1 HelaGSE14283 140734706 140734736 30 0
hScc1 BcellGSE12603 140735658 140736032 374 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