AutismKB 2.0

Annotation Detail for CECR1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:CECR1 ( ADA2,ADGF,IDGFL )
Gene Full Name: cat eye syndrome chromosome region, candidate 1
Band: 22q11.2
Quick LinksEntrez ID:51816; OMIM: 607575; Uniprot ID:CECR1_HUMAN; ENSEMBL ID: ENSG00000093072; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
127N-linked (GlcNAc...).
174N-linked (GlcNAc...).
185N-linked (GlcNAc...).
378N-linked (GlcNAc...).
Location(AA) Modifications Resource
Location(AA) Modification Resource
65Phosphothreonine(PKC)HMM predict
127N-linkedHMM predict
152Phosphothreonine(MAPK)HMM predict
174N-linkedHMM predict
185N-linkedHMM predict
187Phosphothreonine(PKA)HMM predict
242Phosphotyrosine(INSR)HMM predict
378N-linkedHMM predict
396Phosphothreonine(PKC)HMM predict
398Phosphoserine(PKC)HMM predict
428Phosphothreonine(PKC)HMM predict
456Phosphotyrosine(Syk)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_017424
  • Location:chr22 16040193-16070778
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 16074979 16075141 162 4282
CTCF CD4SISSRdata 16074979 16075141 162 4282
CTCF HelaGSE12889 16075007 16075192 185 4321
Oct4 hESGSE17917 16078174 16078399 225 7508
Oct4 hESGSE21916 16078000 16078588 588 7516
hScc1 BcellGSE12603 16074964 16075168 204 4288
hScc1 BcellGSE12603 16080076 16080457 381 9488
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 16062212 16062798 586 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