AutismKB 2.0

Annotation Detail for POLR1E


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Basic Information Top
Gene Symbol:POLR1E ( FLJ13390,FLJ13970,PAF53,PRAF1,RP11-405L18.3 )
Gene Full Name: polymerase (RNA) I polypeptide E, 53kDa
Band: 9p13.2
Quick LinksEntrez ID:64425; OMIM: NA; Uniprot ID:RPA49_HUMAN; ENSEMBL ID: ENSG00000137054; HGNC ID: 17631
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
225Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_022490
  • Location:chr9 37475944-37493692
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 37472431 37472546 115 3456
CTCF CD4SISSRdata 37472431 37472546 115 3456
ER Fulvestrant-MCF7GSE14664 37475690 37475733 43 233
Fos K562GSE19551 37475494 37476093 599 151
Oct1 HelaGSE14283 37475696 37475725 29 234
Rb SenescentGSE19898 37475524 37476125 601 120
Rb shRbSenescenceGSE19898 37475665 37475924 259 150
TFAP2C MCF7GSE21234 37475294 37476093 799 251
hScc1 BcellGSE12603 37475725 37476093 368 36
p130 QuiescentGSE19898 37475714 37476046 332 65
p130 SenescentGSE19898 37475516 37476315 799 29
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3ac HepG2E 37476166 37478597 2431 0
LIN9 G0GSE7516 37475725 37476334 609 0
PHF8 293TGSE20725 37475407 37476543 1136 0
p130 QuiescentGSE19898 37477251 37477369 118 0
p130 SenescentGSE19898 37476333 37476716 383 0
p130 SenescentGSE19898 37477020 37477591 571 0
p130 shRbQuiescentGSE19898 37476223 37477342 1119 0
p130 shRbSenescentGSE19898 37475623 37476327 704 0
p130 shRbSenescentGSE19898 37476990 37477485 495 0
p130 G0GSE7516 37475905 37476612 707 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