AutismKB 2.0

Annotation Detail for ESRP1


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Basic Information Top
Gene Symbol:ESRP1 ( FLJ20171,RBM35A,RMB35A )
Gene Full Name: epithelial splicing regulatory protein 1
Band: 8q22.1
Quick LinksEntrez ID:54845; OMIM: 612959; Uniprot ID:ESRP1_HUMAN; ENSEMBL ID: ENSG00000104413; HGNC ID: 25966
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_001034915
  • Location:chr8 95722577-95788867
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 95720476 95720921 445 1879
CTCF G2GSE9613 95721692 95722094 402 685
FOXA1 MCF7GSE15244 95704676 95705328 652 17576
FOXA1 MCF7GSE15244 95714652 95714902 250 7801
FOXA1 MCF7GSE15244 95720162 95720476 314 2259
FOXA1 MCF7GSE15244 95720895 95721736 841 1262
Myc K562GSE19551 95716583 95716742 159 5915
Nanog hESGSE18292 95704861 95705086 225 17604
RARA MCF7GSE15244 95714652 95714844 192 7830
RARA MCF7GSE15244 95720162 95720406 244 2294
RARA MCF7GSE15244 95720996 95721692 696 1234
RARG MCF7GSE15244 95714652 95714844 192 7830
RARG MCF7GSE15244 95720162 95720476 314 2259
RARG MCF7GSE15244 95720921 95721692 771 1271
TFAP2C MCF7GSE21234 95720009 95721467 1458 1840
TFAP2C MCF7GSE21234 95721554 95723301 1747 150
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 95794841 95795148 307 6127
CTCF CD4SISSRdata 95794841 95795148 307 6127
CTCF G2GSE9613 95794797 95795084 287 6073
Sox2 hESGSE18292 95794895 95795148 253 6154
hScc1 BcellGSE12603 95794797 95795084 287 6073
hScc1 CdLSGSE12603 95794797 95795084 287 6073
hScc1 G2GSE9613 95794797 95795084 287 6073
No data
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


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