AutismKB 2.0

Annotation Detail for POLR3D


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Basic Information Top
Gene Symbol:POLR3D ( BN51T,RPC4,RPC53,TSBN51 )
Gene Full Name: polymerase (RNA) III (DNA directed) polypeptide D, 44kDa
Band: 8p21.3
Quick LinksEntrez ID:661; OMIM: 187280; Uniprot ID:RPC4_HUMAN; ENSEMBL ID: ENSG00000168495; HGNC ID: 1080
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
386Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001722
  • Location:chr8 22158563-22164623
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 22158033 22158990 957 52
H3ac HepG2E 22157704 22158121 417 651
HIF1 HypoHepG2 22157704 22158073 369 675
PHF8 HeLaGSE20725 22157724 22159358 1634 23
p130 QuiescentGSE19898 22157943 22158168 225 508
p63 keratinocytesGSE17611 22152334 22153004 670 5895
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 22162261 22162853 592 0
ETS1 JurkatGSE17954 22158024 22159835 1811 0
Myc hESGSE17917 22158656 22159046 390 0
P300 T0-glioblastomaGSE21026 22158273 22159597 1324 0
P300 T30-glioblastomaGSE21026 22157641 22159757 2116 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-320a hsa-mir-320a 8 18852463
hsa-miR-320b hsa-mir-320b-1 1 18852463
hsa-miR-320b hsa-mir-320b-2 1 18852463
hsa-miR-320c hsa-mir-320c-1 18 18852463
hsa-miR-320c hsa-mir-320c-2 18 18852463
hsa-miR-320d hsa-mir-320d-1 13 18852463
hsa-miR-320d hsa-mir-320d-2 X 18852463
No data
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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