AutismKB 2.0

Annotation Detail for POLR2K


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Basic Information Top
Gene Symbol:POLR2K ( ABC10-alpha,RPABC4,RPB10alpha,RPB12,RPB7.0,hRPB7.0,hsRPB10a )
Gene Full Name: polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa
Band: 8q22.2
Quick LinksEntrez ID:5440; OMIM: 606033; Uniprot ID:RPAB4_HUMAN; ENSEMBL ID: ENSG00000147669; HGNC ID: 9198
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_005034
  • Location:chr8 101232014-101235404
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 101231581 101232360 779 44
LIN9 G0GSE7516 101231558 101232339 781 66
P300 T0-glioblastomaGSE21026 101231376 101232478 1102 88
P300 T30-glioblastomaGSE21026 101231216 101232629 1413 92
PHF8 Hs68plusFBSGSE20725 101231297 101232633 1336 50
TAF HelaGSE8489 101231686 101232223 537 60
TAF k562GSE8489 101231301 101232293 992 218
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 101231235 101232845 1610 0
FOXA1 MCF7GSE15244 101231648 101232605 957 0
GABP HelaGSE8489 101231589 101232926 1337 0
GABP k562GSE8489 101230904 101233518 2614 0
H3K4me3 colorectalcancer 101231589 101232605 1016 0
H3ac HepG2E 101231342 101233100 1758 0
Myc K562GSE19551 101231806 101232262 456 0
PHF8 293TGSE20725 101231657 101232717 1060 0
PolII HeLaGSE12783 101231213 101232870 1657 0
RARA MCF7GSE15244 101231487 101232641 1154 0
RARG MCF7GSE15244 101231558 101232641 1083 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-1 hsa-mir-1-2 18 15685193
hsa-miR-1 hsa-mir-1-1 20 15685193
hsa-miR-124 hsa-mir-124-1 8 15685193
hsa-miR-124 hsa-mir-124-2 8 15685193
hsa-miR-124 hsa-mir-124-3 20 15685193
hsa-miR-125a-3p hsa-mir-125a 19 19950226
hsa-miR-125a-5p hsa-mir-125a 19 19950226
hsa-miR-140-3p hsa-mir-140 16 19950226
hsa-miR-140-5p hsa-mir-140 16 19950226
hsa-miR-149 hsa-mir-149 2 19950226
hsa-miR-149* hsa-mir-149 2 19950226
hsa-miR-27a hsa-mir-27a 19 19950226
hsa-miR-27a* hsa-mir-27a 19 19950226
hsa-miR-373 hsa-mir-373 19 15685193
hsa-miR-373* hsa-mir-373 19 15685193
hsa-miR-423-3p hsa-mir-423 17 19950226
hsa-miR-423-5p hsa-mir-423 17 19950226
hsa-miR-92a hsa-mir-92a-1 13 19950226
hsa-miR-92a-1* hsa-mir-92a-1 13 19950226
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
140 Unknown MicroArray miR-1 POLR2K n_a 15685193
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000147669 "cardiac and skeletal muscles, cardiogenesis" n_a n_a "epithelium, lymphoblast, lymphocyte" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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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