AutismKB 2.0

Annotation Detail for CEP57L1


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Basic Information Top
Gene Symbol:CEP57L1 ( C6orf182,MGC21731,MGC70837,bA487F23.2,cep57R )
Gene Full Name: centrosomal protein 57kDa-like 1
Band: 6q21
Quick LinksEntrez ID:285753; OMIM: NA; Uniprot ID:CE57L_HUMAN; ENSEMBL ID: ENSG00000183137; HGNC ID: 21561
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_173830
  • Location:chr6 109557199-109591795
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 109551203 109551231 28 5983
Oct1 HelaGSE14283 109542867 109542929 62 14302
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
STAT1 HeLaGSE12783 109599291 109601096 1805 8398
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 109564839 109564866 27 0
Oct1 HelaGSE14283 109580122 109580154 32 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