AutismKB 2.0

Annotation Detail for CNN1


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Basic Information Top
Gene Symbol:CNN1 ( SMCC,Sm-Calp )
Gene Full Name: calponin 1, basic, smooth muscle
Band: 19p13.2
Quick LinksEntrez ID:1264; OMIM: 600806; Uniprot ID:CNN1_HUMAN; ENSEMBL ID: ENSG00000130176; HGNC ID: 2155
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001299
  • Location:chr19 11510578-11522137
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 11507944 11508220 276 2497
CTCF CD4SISSRdata 11507944 11508220 276 2497
Fos K562GSE19551 11507507 11508332 825 2659
H3K4me2 HCT116GSE10453 11507371 11507902 531 2942
TAF HelaGSE8489 11507371 11507929 558 2929
p130 SenescentGSE19898 11507526 11508012 486 2810
p130 shRbSenescentGSE19898 11507723 11508015 292 2710
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 11517032 11517249 217 0
CTCF G2GSE9613 11521299 11521636 337 0
H3K27me3 colorectalcancer 11511039 11511261 222 0
hScc1 BcellGSE12603 11512318 11513075 757 0
p130 shRbQuiescentGSE19898 11510010 11511608 1598 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