POLR3H (RNA polymerase III subunit H) - Rat Genome Database

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Gene: POLR3H (RNA polymerase III subunit H) Homo sapiens
Analyze
Symbol: POLR3H
Name: RNA polymerase III subunit H
RGD ID: 1314191
HGNC Page HGNC
Description: Enables DNA-directed 5'-3' RNA polymerase activity. Involved in transcription by RNA polymerase III. Located in centrosome and nucleoplasm. Part of RNA polymerase III complex; PARTICIPATES IN purine metabolic pathway; pyrimidine metabolic pathway; RNA polymerase III transcription pathway; INTERACTS WITH (-)-epigallocatechin 3-gallate; 2-hydroxypropanoic acid; 2-methylcholine.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: C25; DNA-directed RNA polymerase III subunit 22.9 kDa polypeptide; DNA-directed RNA polymerase III subunit H; DNA-directed RNA polymerase III subunit RPC8; KIAA1665; MGC111097; MGC29654; polymerase (RNA) III (DNA directed) polypeptide H (22.9kD); polymerase (RNA) III subunit H; RNA nucleotidyltransferase (DNA-directed); RNA polymerase III subunit 22.9 kDa subunit; RNA polymerase III subunit C8; RNA polymerase III subunit RPC8; RPC22.9; RPC8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,525,799 - 41,544,606 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,525,799 - 41,544,606 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372241,921,803 - 41,940,610 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,251,749 - 40,270,416 (-)NCBINCBI36hg18NCBI36
Build 342240,249,597 - 40,264,964NCBI
Celera2225,728,174 - 25,746,850 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2224,887,617 - 24,906,295 (-)NCBIHuRef
CHM1_12241,881,711 - 41,900,401 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1403646   PMID:8889548   PMID:10591208   PMID:11258795   PMID:12477932   PMID:15461802   PMID:15489334   PMID:16344560   PMID:16712791   PMID:17643375   PMID:18029348   PMID:19246067  
PMID:19615732   PMID:20843307   PMID:21873635   PMID:22939629   PMID:24981860   PMID:26186194   PMID:26344197   PMID:26496610   PMID:28514442   PMID:30830215   PMID:32296183  


Genomics

Comparative Map Data
POLR3H
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2241,525,799 - 41,544,606 (-)EnsemblGRCh38hg38GRCh38
GRCh382241,525,799 - 41,544,606 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372241,921,803 - 41,940,610 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362240,251,749 - 40,270,416 (-)NCBINCBI36hg18NCBI36
Build 342240,249,597 - 40,264,964NCBI
Celera2225,728,174 - 25,746,850 (-)NCBI
Cytogenetic Map22q13.2NCBI
HuRef2224,887,617 - 24,906,295 (-)NCBIHuRef
CHM1_12241,881,711 - 41,900,401 (-)NCBICHM1_1
Polr3h
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391581,799,231 - 81,813,824 (-)NCBIGRCm39mm39
GRCm39 Ensembl1581,772,429 - 81,810,441 (-)Ensembl
GRCm381581,915,030 - 81,926,247 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1581,888,228 - 81,926,240 (-)EnsemblGRCm38mm10GRCm38
MGSCv371581,745,460 - 81,756,643 (-)NCBIGRCm37mm9NCBIm37
MGSCv361581,742,285 - 81,753,468 (-)NCBImm8
Celera1584,036,272 - 84,047,462 (-)NCBICelera
Cytogenetic Map15E1NCBI
Polr3h
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.27113,429,434 - 113,439,743 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl7113,429,451 - 113,439,778 (-)Ensembl
Rnor_6.07123,146,248 - 123,156,558 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7123,146,249 - 123,156,558 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07123,121,643 - 123,131,953 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47120,267,584 - 120,277,894 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.17120,301,651 - 120,324,475 (-)NCBI
Celera7109,748,102 - 109,758,412 (-)NCBICelera
Cytogenetic Map7q34NCBI
Polr3h
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541327,065,785 - 27,072,432 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541327,065,785 - 27,072,432 (-)NCBIChiLan1.0ChiLan1.0
POLR3H
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12240,507,021 - 40,525,925 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2240,507,026 - 40,525,927 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v02222,419,887 - 22,438,539 (-)NCBIMhudiblu_PPA_v0panPan3
POLR3H
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11023,728,697 - 23,742,345 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1023,728,998 - 23,741,349 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1023,661,399 - 23,675,108 (+)NCBI
ROS_Cfam_1.01024,473,548 - 24,487,267 (+)NCBI
UMICH_Zoey_3.11024,190,351 - 24,204,061 (+)NCBI
UNSW_CanFamBas_1.01024,511,563 - 24,525,229 (+)NCBI
UU_Cfam_GSD_1.01024,685,664 - 24,699,377 (+)NCBI
Polr3h
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049457,384,968 - 7,396,120 (+)NCBI
SpeTri2.0NW_004936492395,348 - 407,588 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POLR3H
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl56,997,444 - 7,014,422 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.156,999,690 - 7,014,471 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.254,371,602 - 4,384,911 (+)NCBISscrofa10.2Sscrofa10.2susScr3
POLR3H
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11924,068,205 - 24,082,648 (-)NCBI
ChlSab1.1 Ensembl1924,068,826 - 24,082,611 (-)Ensembl
Vero_WHO_p1.0NW_023666045101,332,684 - 101,349,124 (+)NCBI
Polr3h
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247527,066,057 - 7,074,251 (+)NCBI

Position Markers
D22S1253  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,924,725 - 41,924,830UniSTSGRCh37
Build 362240,254,671 - 40,254,776RGDNCBI36
Celera2225,731,096 - 25,731,201RGD
Cytogenetic Map22q13.2UniSTS
HuRef2224,890,539 - 24,890,644UniSTS
RH11189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,924,800 - 41,924,927UniSTSGRCh37
Build 362240,254,746 - 40,254,873RGDNCBI36
Celera2225,731,171 - 25,731,298RGD
Cytogenetic Map22q13.2UniSTS
HuRef2224,890,614 - 24,890,741UniSTS
D22S643  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,926,680 - 41,926,788UniSTSGRCh37
Build 362240,256,626 - 40,256,734RGDNCBI36
Celera2225,733,051 - 25,733,159RGD
Cytogenetic Map22q13.2UniSTS
HuRef2224,892,494 - 24,892,602UniSTS
A007B26  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,921,894 - 41,922,048UniSTSGRCh37
Build 362240,251,840 - 40,251,994RGDNCBI36
Celera2225,728,265 - 25,728,419RGD
Cytogenetic Map22q13.2UniSTS
HuRef2224,887,708 - 24,887,862UniSTS
GeneMap99-GB4 RH Map22126.85UniSTS
D22S998E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,924,909 - 41,925,086UniSTSGRCh37
Build 362240,254,855 - 40,255,032RGDNCBI36
Celera2225,731,280 - 25,731,457RGD
Cytogenetic Map22q13.2UniSTS
HuRef2224,890,723 - 24,890,900UniSTS
GeneMap99-GB4 RH Map22127.53UniSTS
MARC_5597-5598:1044046898:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,923,969 - 41,924,560UniSTSGRCh37
Build 362240,253,915 - 40,254,506RGDNCBI36
Celera2225,730,340 - 25,730,931RGD
HuRef2224,889,783 - 24,890,374UniSTS
RH78562  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map22q13.2UniSTS
GeneMap99-GB4 RH Map22127.47UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5864
Count of miRNA genes:1118
Interacting mature miRNAs:1431
Transcripts:ENST00000337566, ENST00000355209, ENST00000396504, ENST00000407461, ENST00000420561, ENST00000431534, ENST00000432789, ENST00000442616, ENST00000483837
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1898 1458 1405 291 999 163 3323 1038 3590 306 1391 1460 143 1038 1994 4 2
Low 541 1518 321 333 936 302 1034 1159 144 113 69 153 32 1 166 794 2
Below cutoff 15 16

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001018050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001018052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001282885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_138338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017028641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_244356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB051452 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL023553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY092087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC088367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI754673 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM681267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM701572 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU173504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU584298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU928882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX331353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX367405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB126821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA238361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA449644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA504810 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000337566   ⟹   ENSP00000337627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,528,842 - 41,544,462 (-)Ensembl
RefSeq Acc Id: ENST00000355209   ⟹   ENSP00000347345
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,525,799 - 41,544,470 (-)Ensembl
RefSeq Acc Id: ENST00000396504   ⟹   ENSP00000379761
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,525,804 - 41,544,489 (-)Ensembl
RefSeq Acc Id: ENST00000407461   ⟹   ENSP00000385315
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,529,212 - 41,544,606 (-)Ensembl
RefSeq Acc Id: ENST00000420561
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,532,625 - 41,544,386 (-)Ensembl
RefSeq Acc Id: ENST00000431534   ⟹   ENSP00000395674
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,528,843 - 41,544,455 (-)Ensembl
RefSeq Acc Id: ENST00000432789   ⟹   ENSP00000415053
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,528,865 - 41,544,427 (-)Ensembl
RefSeq Acc Id: ENST00000442616   ⟹   ENSP00000408083
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,532,119 - 41,544,460 (-)Ensembl
RefSeq Acc Id: ENST00000483837
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2241,539,143 - 41,544,472 (-)Ensembl
RefSeq Acc Id: NM_001018050   ⟹   NP_001018060
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,525,799 - 41,544,470 (-)NCBI
GRCh372241,921,803 - 41,940,479 (-)RGD
GRCh372241,921,803 - 41,940,479 (-)NCBI
Build 362240,251,749 - 40,270,416 (-)NCBI Archive
Celera2225,728,174 - 25,746,850 (-)RGD
HuRef2224,887,617 - 24,906,426 (-)NCBI
CHM1_12241,881,711 - 41,900,415 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001018052   ⟹   NP_001018062
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,525,799 - 41,544,470 (-)NCBI
GRCh372241,921,803 - 41,940,479 (-)RGD
GRCh372241,921,803 - 41,940,479 (-)NCBI
Build 362240,251,749 - 40,270,416 (-)NCBI Archive
Celera2225,728,174 - 25,746,850 (-)RGD
HuRef2224,887,617 - 24,906,426 (-)NCBI
CHM1_12241,881,711 - 41,900,415 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282884   ⟹   NP_001269813
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,525,799 - 41,544,606 (-)NCBI
HuRef2224,887,617 - 24,906,426 (-)NCBI
CHM1_12241,881,711 - 41,900,532 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001282885   ⟹   NP_001269814
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,525,799 - 41,544,470 (-)NCBI
HuRef2224,887,617 - 24,906,426 (-)NCBI
CHM1_12241,881,711 - 41,900,415 (-)NCBI
Sequence:
RefSeq Acc Id: NM_138338   ⟹   NP_612211
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,525,799 - 41,544,470 (-)NCBI
GRCh372241,921,803 - 41,940,479 (-)RGD
Build 362240,251,749 - 40,270,410 (-)NCBI Archive
Celera2225,728,174 - 25,746,850 (-)RGD
HuRef2224,887,617 - 24,906,426 (-)NCBI
CHM1_12241,881,711 - 41,900,415 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011529993   ⟹   XP_011528295
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,528,842 - 41,544,397 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017028641   ⟹   XP_016884130
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,528,842 - 41,544,397 (-)NCBI
Sequence:
RefSeq Acc Id: XR_244356
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,528,842 - 41,544,451 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001018060   ⟸   NM_001018050
- Peptide Label: isoform a
- UniProtKB: Q9Y535 (UniProtKB/Swiss-Prot),   A0A024R1P3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001018062   ⟸   NM_001018052
- Peptide Label: isoform b
- UniProtKB: Q9Y535 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_612211   ⟸   NM_138338
- Peptide Label: isoform a
- UniProtKB: Q9Y535 (UniProtKB/Swiss-Prot),   A0A024R1P3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269813   ⟸   NM_001282884
- Peptide Label: isoform a
- UniProtKB: Q9Y535 (UniProtKB/Swiss-Prot),   A0A024R1P3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001269814   ⟸   NM_001282885
- Peptide Label: isoform a
- UniProtKB: Q9Y535 (UniProtKB/Swiss-Prot),   A0A024R1P3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528295   ⟸   XM_011529993
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016884130   ⟸   XM_017028641
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000337627   ⟸   ENST00000337566
RefSeq Acc Id: ENSP00000408083   ⟸   ENST00000442616
RefSeq Acc Id: ENSP00000395674   ⟸   ENST00000431534
RefSeq Acc Id: ENSP00000385315   ⟸   ENST00000407461
RefSeq Acc Id: ENSP00000415053   ⟸   ENST00000432789
RefSeq Acc Id: ENSP00000347345   ⟸   ENST00000355209
RefSeq Acc Id: ENSP00000379761   ⟸   ENST00000396504
Protein Domains
RNA_pol_Rbc25   SHS2_Rpb7-N

Promoters
RGD ID:6812211
Promoter ID:HG_ACW:52217
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:POLR3H.MAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,252,681 - 40,253,181 (-)MPROMDB
RGD ID:6799909
Promoter ID:HG_KWN:42989
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000216255,   ENST00000396504,   ENST00000407461,   OTTHUMT00000320702,   OTTHUMT00000320704,   OTTHUMT00000320708,   OTTHUMT00000320709,   UC003BAE.1,   UC003BAF.1,   UC003BAG.1,   UC003BAI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362240,269,931 - 40,271,032 (-)MPROMDB
RGD ID:13604262
Promoter ID:EPDNEW_H28315
Type:initiation region
Name:POLR3H_1
Description:RNA polymerase III subunit H
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382241,544,470 - 41,544,530EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33
pathogenic
NM_001018050.3(POLR3H):c.78T>C (p.Ile26=) single nucleotide variant Malignant melanoma [RCV000063919] Chr22:41544024 [GRCh38]
Chr22:41940028 [GRCh37]
Chr22:40269974 [NCBI36]
Chr22:22q13.2
not provided
NM_001098.3(ACO2):c.1927G>A (p.Val643Ile) single nucleotide variant not provided [RCV000054663] Chr22:41526427 [GRCh38]
Chr22:41922431 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1776T>C (p.Cys592=) single nucleotide variant not provided [RCV000054662] Chr22:41526276 [GRCh38]
Chr22:41922280 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1954-13G>A single nucleotide variant not provided [RCV001519309]|not specified [RCV000123484] Chr22:41527275 [GRCh38]
Chr22:41923279 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1954-12C>T single nucleotide variant not provided [RCV001513353]|not specified [RCV000123485] Chr22:41527276 [GRCh38]
Chr22:41923280 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1980C>T (p.Ile660=) single nucleotide variant not provided [RCV000889329]|not specified [RCV000123486] Chr22:41527314 [GRCh38]
Chr22:41923318 [GRCh37]
Chr22:22q13.2
benign
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
NM_001098.3(ACO2):c.2302G>A (p.Ala768Thr) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001332805] Chr22:41528572 [GRCh38]
Chr22:41924576 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2145CAA[1] (p.Asn716del) microsatellite Optic atrophy 9 [RCV001333749] Chr22:41527958..41527960 [GRCh38]
Chr22:41923962..41923964 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33
pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33
pathogenic
NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000202542]|not provided [RCV001550253] Chr22:41527949 [GRCh38]
Chr22:41923953 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_001098.3(ACO2):c.1819C>T (p.Arg607Cys) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000202502] Chr22:41526319 [GRCh38]
Chr22:41922323 [GRCh37]
Chr22:22q13.2
pathogenic|likely pathogenic
GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3 copy number gain See cases [RCV000136785] Chr22:41277822..42414957 [GRCh38]
Chr22:41673826..42810963 [GRCh37]
Chr22:40003772..41140907 [NCBI36]
Chr22:22q13.2
pathogenic
NM_001098.3(ACO2):c.1981G>A (p.Gly661Arg) single nucleotide variant Optic atrophy 9 [RCV000169731] Chr22:41527315 [GRCh38]
Chr22:41923319 [GRCh37]
Chr22:22q13.2
pathogenic|not provided
NM_001098.3(ACO2):c.2208G>C (p.Lys736Asn) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000169733] Chr22:41528022 [GRCh38]
Chr22:41924026 [GRCh37]
Chr22:22q13.2
pathogenic|not provided
NM_001098.3(ACO2):c.2328_2331del (p.Lys776fs) deletion Infantile cerebellar-retinal degeneration [RCV000169734] Chr22:41528595..41528598 [GRCh38]
Chr22:41924599..41924602 [GRCh37]
Chr22:22q13.2
pathogenic|not provided
NM_001098.3(ACO2):c.1802G>A (p.Gly601Asp) single nucleotide variant not provided [RCV000197903] Chr22:41526302 [GRCh38]
Chr22:41922306 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_001098.3(ACO2):c.2051G>A (p.Arg684Gln) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000764401]|Infantile cerebellar-retinal degeneration [RCV001332804]|not provided [RCV000198947] Chr22:41527385 [GRCh38]
Chr22:41923389 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2292G>C (p.Glu764Asp) single nucleotide variant not provided [RCV000196045] Chr22:41528562 [GRCh38]
Chr22:41924566 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_001098.3(ACO2):c.1953+16T>C single nucleotide variant not specified [RCV000243408] Chr22:41526469 [GRCh38]
Chr22:41922473 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2062A>T (p.Thr688Ser) single nucleotide variant not provided [RCV000490054] Chr22:41527396 [GRCh38]
Chr22:41923400 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2208+11C>T single nucleotide variant not specified [RCV000599699] Chr22:41528033 [GRCh38]
Chr22:41924037 [GRCh37]
Chr22:22q13.2
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001098.3(ACO2):c.2226C>T (p.Ile742=) single nucleotide variant not provided [RCV000982452]|not specified [RCV000445332] Chr22:41528496 [GRCh38]
Chr22:41924500 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2136G>A (p.Pro712=) single nucleotide variant not specified [RCV000428116] Chr22:41527950 [GRCh38]
Chr22:41923954 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2127C>T (p.Phe709=) single nucleotide variant not provided [RCV000897422]|not specified [RCV000418809] Chr22:41527941 [GRCh38]
Chr22:41923945 [GRCh37]
Chr22:22q13.2
benign|likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001098.3(ACO2):c.2209C>A (p.Pro737Thr) single nucleotide variant not provided [RCV000481661] Chr22:41528479 [GRCh38]
Chr22:41924483 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2338_2339del (p.Gln780fs) deletion Infantile cerebellar-retinal degeneration [RCV000491582] Chr22:41528607..41528608 [GRCh38]
Chr22:41924611..41924612 [GRCh37]
Chr22:22q13.2
pathogenic
GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3 copy number gain See cases [RCV000511241] Chr22:41835094..42756616 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001098.3(ACO2):c.2007G>C (p.Ser669=) single nucleotide variant not specified [RCV000601456] Chr22:41527341 [GRCh38]
Chr22:41923345 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1770G>A (p.Gly590=) single nucleotide variant not specified [RCV000604662] Chr22:41526270 [GRCh38]
Chr22:41922274 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2087-13G>A single nucleotide variant not provided [RCV001520421]|not specified [RCV000613700] Chr22:41527888 [GRCh38]
Chr22:41923892 [GRCh37]
Chr22:22q13.2
benign|likely benign
NM_001098.3(ACO2):c.1954-17C>T single nucleotide variant not specified [RCV000604683] Chr22:41527271 [GRCh38]
Chr22:41923275 [GRCh37]
Chr22:22q13.2
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001098.3(ACO2):c.2105_2106del (p.Gln702fs) deletion Inborn genetic diseases [RCV000622389]|not provided [RCV001342980] Chr22:41527919..41527920 [GRCh38]
Chr22:41923923..41923924 [GRCh37]
Chr22:22q13.2
pathogenic|uncertain significance
NC_000022.11:g.(?_41301335)_(42070317_?)del deletion Common variable immunodeficiency 4 [RCV000648330] Chr22:41301335..42070317 [GRCh38]
Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2301C>T (p.Arg767=) single nucleotide variant not provided [RCV001445490]|not specified [RCV000600800] Chr22:41528571 [GRCh38]
Chr22:41924575 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2153T>C (p.Ile718Thr) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000681652] Chr22:41527967 [GRCh38]
Chr22:41923971 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2050C>T (p.Arg684Trp) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000681651] Chr22:41527384 [GRCh38]
Chr22:41923388 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3 copy number gain not provided [RCV000684486] Chr22:41849322..42756616 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_001098.3(ACO2):c.2026C>G (p.Leu676Val) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV000714584] Chr22:41527360 [GRCh38]
Chr22:41923364 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1953+186T>C single nucleotide variant not provided [RCV001541358] Chr22:41526639 [GRCh38]
Chr22:41922643 [GRCh37]
Chr22:22q13.2
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001098.3(ACO2):c.2006C>T (p.Ser669Leu) single nucleotide variant not provided [RCV000762079] Chr22:41527340 [GRCh38]
Chr22:41923344 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1762-35G>T single nucleotide variant not provided [RCV001546751] Chr22:41526227 [GRCh38]
Chr22:41922231 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.*161G>T single nucleotide variant not provided [RCV001552160] Chr22:41528774 [GRCh38]
Chr22:41924778 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1893C>T (p.Ser631=) single nucleotide variant not provided [RCV000893083] Chr22:41526393 [GRCh38]
Chr22:41922397 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1986C>T (p.Asp662=) single nucleotide variant not provided [RCV000925517] Chr22:41527320 [GRCh38]
Chr22:41923324 [GRCh37]
Chr22:22q13.2
likely benign
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33
pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33
pathogenic
NM_001098.3(ACO2):c.1954-9G>C single nucleotide variant not provided [RCV000929677] Chr22:41527279 [GRCh38]
Chr22:41923283 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2229G>A (p.Lys743=) single nucleotide variant not provided [RCV000979670] Chr22:41528499 [GRCh38]
Chr22:41924503 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1974G>T (p.Val658=) single nucleotide variant not provided [RCV000894241] Chr22:41527308 [GRCh38]
Chr22:41923312 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2086+227T>C single nucleotide variant not provided [RCV000837496] Chr22:41527647 [GRCh38]
Chr22:41923651 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.2086+220G>A single nucleotide variant not provided [RCV000837674] Chr22:41527640 [GRCh38]
Chr22:41923644 [GRCh37]
Chr22:22q13.2
benign
NM_001098.3(ACO2):c.1954-171C>T single nucleotide variant not provided [RCV000839808] Chr22:41527117 [GRCh38]
Chr22:41923121 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2282C>T (p.Thr761Met) single nucleotide variant not provided [RCV000997938] Chr22:41528552 [GRCh38]
Chr22:41924556 [GRCh37]
Chr22:22q13.2
uncertain significance
GRCh37/hg19 22q13.2(chr22:41742988-41946225)x3 copy number gain not provided [RCV000848205] Chr22:41742988..41946225 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1954-285T>A single nucleotide variant not provided [RCV000832667] Chr22:41527003 [GRCh38]
Chr22:41923007 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1926C>T (p.Pro642=) single nucleotide variant not provided [RCV000941130] Chr22:41526426 [GRCh38]
Chr22:41922430 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1954-32G>C single nucleotide variant not provided [RCV000835312] Chr22:41527256 [GRCh38]
Chr22:41923260 [GRCh37]
Chr22:22q13.2
likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001098.3(ACO2):c.2335_2340del (p.Gln779_Gln780del) deletion not provided [RCV000997940] Chr22:41528604..41528609 [GRCh38]
Chr22:41924608..41924613 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1966_1969del (p.Arg656fs) deletion Infantile cerebellar-retinal degeneration [RCV000990460] Chr22:41527300..41527303 [GRCh38]
Chr22:41923304..41923307 [GRCh37]
Chr22:22q13.2
pathogenic
GRCh37/hg19 22q13.2(chr22:41871935-42026428)x1 copy number loss not provided [RCV001007503] Chr22:41871935..42026428 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2086+120C>T single nucleotide variant not provided [RCV001557653] Chr22:41527540 [GRCh38]
Chr22:41923544 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.2278G>A (p.Glu760Lys) single nucleotide variant not provided [RCV000901856] Chr22:41528548 [GRCh38]
Chr22:41924552 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1942C>T (p.Arg648Cys) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001007943] Chr22:41526442 [GRCh38]
Chr22:41922446 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2173dup (p.Thr725fs) duplication not provided [RCV000997937] Chr22:41527986..41527987 [GRCh38]
Chr22:41923990..41923991 [GRCh37]
Chr22:22q13.2
likely pathogenic
NM_001098.3(ACO2):c.2011C>T (p.Arg671Trp) single nucleotide variant not provided [RCV001171729] Chr22:41527345 [GRCh38]
Chr22:41923349 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2253dup (p.Ile752fs) duplication Optic atrophy 9 [RCV001197152] Chr22:41528521..41528522 [GRCh38]
Chr22:41924525..41924526 [GRCh37]
Chr22:22q13.2
pathogenic
GRCh37/hg19 22q13.2(chr22:41853620-42385978)x1 copy number loss not provided [RCV001258783] Chr22:41853620..42385978 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1787A>G (p.His596Arg) single nucleotide variant Infantile cerebellar-retinal degeneration [RCV001255993] Chr22:41526287 [GRCh38]
Chr22:41922291 [GRCh37]
Chr22:22q13.2
pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33
pathogenic
NM_001098.3(ACO2):c.2209-78C>G single nucleotide variant not provided [RCV001572356] Chr22:41528401 [GRCh38]
Chr22:41924405 [GRCh37]
Chr22:22q13.2
likely benign
NC_000022.10:g.(?_41697339)_(42466321_?)del deletion Common variable immunodeficiency 4 [RCV001305750] Chr22:41697339..42466321 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2187G>A (p.Leu729=) single nucleotide variant not provided [RCV001433513] Chr22:41528001 [GRCh38]
Chr22:41924005 [GRCh37]
Chr22:22q13.2
likely benign
NM_001098.3(ACO2):c.1879G>A (p.Gly627Ser) single nucleotide variant not provided [RCV001364806] Chr22:41526379 [GRCh38]
Chr22:41922383 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1762-9C>A single nucleotide variant not provided [RCV001319197] Chr22:41526253 [GRCh38]
Chr22:41922257 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2208+6G>C single nucleotide variant not provided [RCV001347651] Chr22:41528028 [GRCh38]
Chr22:41924032 [GRCh37]
Chr22:22q13.2
uncertain significance
NC_000022.10:g.(?_41918834)_(41923424_?)dup duplication not provided [RCV001322542] Chr22:41918834..41923424 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1820G>A (p.Arg607His) single nucleotide variant not provided [RCV001322725] Chr22:41526320 [GRCh38]
Chr22:41922324 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1924C>T (p.Pro642Ser) single nucleotide variant not provided [RCV001368583] Chr22:41526424 [GRCh38]
Chr22:41922428 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.1840_1842del (p.Ser614del) deletion not provided [RCV001309940] Chr22:41526339..41526341 [GRCh38]
Chr22:41922343..41922345 [GRCh37]
Chr22:22q13.2
uncertain significance
NM_001098.3(ACO2):c.2175C>T (p.Thr725=) single nucleotide variant not provided [RCV001470024] Chr22:41527989 [GRCh38]
Chr22:41923993 [GRCh37]
Chr22:22q13.2
likely benign

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:30349 AgrOrtholog
COSMIC POLR3H COSMIC
Ensembl Genes ENSG00000100413 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000337627 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000347345 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000379761 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000385315 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000395674 UniProtKB/TrEMBL
  ENSP00000408083 UniProtKB/TrEMBL
  ENSP00000415053 UniProtKB/TrEMBL
Ensembl Transcript ENST00000337566 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000355209 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000396504 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000407461 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000431534 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000432789 UniProtKB/TrEMBL
  ENST00000442616 UniProtKB/TrEMBL
Gene3D-CATH 3.30.1490.120 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000100413 GTEx
HGNC ID HGNC:30349 ENTREZGENE
Human Proteome Map POLR3H Human Proteome Map
InterPro NA-bd_OB-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_III_Rbc25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb7-like_N_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNAP_E/RPC8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rpb7-like_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:171568 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 171568 ENTREZGENE
Pfam RNA_pol_Rbc25 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHS2_Rpb7-N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134994174 PharmGKB
Superfamily-SCOP SSF50249 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF88798 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
TIGRFAMs rpoE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R1P3 ENTREZGENE, UniProtKB/TrEMBL
  E7ERZ2_HUMAN UniProtKB/TrEMBL
  F8WDS5_HUMAN UniProtKB/TrEMBL
  F8WDV1_HUMAN UniProtKB/TrEMBL
  Q9Y535 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B0QYH9 UniProtKB/Swiss-Prot
  Q5M7Y8 UniProtKB/Swiss-Prot
  Q96AE3 UniProtKB/Swiss-Prot
  Q9BY95 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-19 POLR3H  RNA polymerase III subunit H    polymerase (RNA) III subunit H  Symbol and/or name change 5135510 APPROVED
2016-03-07 POLR3H  polymerase (RNA) III subunit H    polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)  Symbol and/or name change 5135510 APPROVED