AutismKB 2.0

Annotation Detail for EBAG9


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EBAG9 ( EB9,PDAF,RCAS1 )
Gene Full Name: estrogen receptor binding site associated, antigen, 9
Band: 8q23.2
Quick LinksEntrez ID:9166; OMIM: 605772; Uniprot ID:RCAS1_HUMAN; ENSEMBL ID: ENSG00000147654; HGNC ID: 3123
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
36Phosphoserine.
41Phosphothreonine.
48Phosphotyrosine.
86Phosphoserine.
94Phosphotyrosine.
Location(AA) Modifications Resource
36Phosphoserine.Swiss-Prot 53.0
36PhosphoserinePhospho.ELM 6.0
41Phosphothreonine.Swiss-Prot 53.0
41PhosphothreoninePhospho.ELM 6.0
48Phosphotyrosine.Swiss-Prot 53.0
48PhosphotyrosinePhospho.ELM 6.0
94Phosphotyrosine.Swiss-Prot 53.0
94PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
94SulfotyrosineHMM predict
201MethionineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004215
  • Location:chr8 110621485-110646564
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 110621049 110622044 995 0
H3ac HepG2E 110621740 110622491 751 0
PHF8 Hs68minusFBSGSE20725 110621050 110622160 1110 0
Rb GrowingGSE19898 110633365 110633512 147 0
TAF k562GSE8489 110621812 110623222 1410 0
hScc1 G2GSE9613 110642954 110643514 560 0
p130 QuiescentGSE19898 110621298 110621977 679 0
p130 shRbQuiescentGSE19898 110621305 110621940 635 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