AutismKB 2.0

Annotation Detail for CIR1


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Basic Information Top
Gene Symbol:CIR1 ( CIR )
Gene Full Name: corepressor interacting with RBPJ, 1
Band: 2q31.1
Quick LinksEntrez ID:9541; OMIM: 605228; Uniprot ID:CIR1_HUMAN; ENSEMBL ID: ENSG00000138433; HGNC ID: 24217
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
202Phosphoserine.
245Nuclear localization signal (Potential).
298Nuclear localization signal (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_004882
  • Location:chr2 174921125-174968688
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 174917900 174918197 297 3077
H3K27me3 colorectalcancer 174915904 174916673 769 4837
H3K27me3 colorectalcancer 174917306 174918007 701 3469
hScc1 G2GSE9613 174916673 174918345 1672 3617
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 174949956 174950243 287 0
GABP k562GSE8489 174965425 174966457 1032 0
GABP k562GSE8489 174966831 174967376 545 0
GABP k562GSE8489 174967789 174969451 1662 0
p130 shRbQuiescentGSE19898 174968192 174968988 796 0
Validated miRNA targets Top
Cis-Nats regulation Top

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  (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