AutismKB 2.0

Annotation Detail for POLR3H


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Basic Information Top
Gene Symbol:POLR3H ( KIAA1665,MGC111097,MGC29654,RPC22.9,RPC8 )
Gene Full Name: polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)
Band: 22q13.2
Quick LinksEntrez ID:171568; OMIM: NA; Uniprot ID:RPC8_HUMAN; ENSEMBL ID: ENSG00000100413; HGNC ID: 30349
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
141SulfotyrosineHMM predict
141Phosphotyrosine(Syk)HMM predict
141Phosphotyrosine(Jak)HMM predict
161Phosphoserine(IKK)HMM predict
161Phosphoserine(CDC2)HMM predict
161O-linkedHMM predict
166O-linkedHMM predict
171O-linkedHMM predict
172Phosphothreonine(CK2)HMM predict
173Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001018050
  • Location:chr22 40251752-40270411
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 40270101 40270807 706 43
hScc1 BcellGSE12603 40278223 40278437 214 7919
No data
No data
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
17526 mRNA ACO2 chr22 40189628 40249492 957 mRNA POLR3H chr22 40246329 40264848Sense/Antisense (SA) pairs

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