GeneBe

POLR3C

RNA polymerase III subunit C, the group of RNA polymerase subunits

Basic information

Region (hg38): 1:145824053-145844402

Links

ENSG00000186141 ∙ NCBI:10623 ∙ OMIM:617454 ∙ HGNC:30076 ∙ Uniprot:Q9BUI4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the POLR3C gene.

  • not_specified (55 variants)
  • POLR3C-related_disorder (10 variants)
  • not_provided (1 variants)
  • Decreased_total_neutrophil_count (1 variants)
  • Decreased_total_lymphocyte_count (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POLR3C gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006468.8. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
 1
missense
57
clinvar
5
clinvar
 62
nonsense
0
start loss
0
frameshift
2
clinvar
 2
splice donor/acceptor (+/-2bp)
0
Total 0 0 59 6 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
POLR3Cprotein_codingprotein_codingENST00000334163 1418421
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
5.03e-120.56712538003681257480.00146
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.022472960.8330.00001553483
Missense in Polyphen6480.1040.79896965
Synonymous-1.301251081.160.000005521041
Loss of Function1.432230.50.7210.00000172356

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.002410.00241
Ashkenazi Jewish0.00009990.0000992
East Asian0.0006530.000653
Finnish0.0004190.000416
European (Non-Finnish)0.002300.00230
Middle Eastern0.0006530.000653
South Asian0.0004260.000425
Other0.001310.00130

dbNSFP

Source: dbNSFP

Function
FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific core component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. May direct with other members of the subcomplex RNA Pol III binding to the TFIIIB- DNA complex via the interactions between TFIIIB and POLR3F. May be involved either in the recruitment and stabilization of the subcomplex within RNA polymerase III, or in stimulating catalytic functions of other subunits during initiation. Plays a key role in sensing and limiting infection by intracellular bacteria and DNA viruses. Acts as nuclear and cytosolic DNA sensor involved in innate immune response. Can sense non-self dsDNA that serves as template for transcription into dsRNA. The non-self RNA polymerase III transcripts, such as Epstein-Barr virus-encoded RNAs (EBERs) induce type I interferon and NF- Kappa-B through the RIG-I pathway. Preferentially binds single-stranded DNA (ssDNA) in a sequence-independent manner (PubMed:21358628). {ECO:0000269|PubMed:19609254, ECO:0000269|PubMed:19631370, ECO:0000269|PubMed:21358628}.;
Pathway
Pyrimidine metabolism - Homo sapiens (human);Cytosolic DNA-sensing pathway - Homo sapiens (human);RNA polymerase - Homo sapiens (human);Purine metabolism - Homo sapiens (human);Epstein-Barr virus infection - Homo sapiens (human);Pyrimidine metabolism;Gene expression (Transcription);Purine metabolism;Pyrimidine metabolism;RNA Polymerase III Transcription Termination;RNA Polymerase III Chain Elongation;RNA Polymerase III Abortive And Retractive Initiation;RNA Polymerase III Transcription Initiation From Type 1 Promoter;RNA Polymerase III Transcription Initiation From Type 2 Promoter;RNA Polymerase III Transcription Initiation From Type 3 Promoter;RNA Polymerase III Transcription Initiation;RNA Polymerase III Transcription (Consensus)

Recessive Scores

pRec
0.115

Intolerance Scores

loftool
0.857
rvis_EVS
0.58
rvis_percentile_EVS
82.17

Haploinsufficiency Scores

pHI
0.318
hipred
Y
hipred_score
0.714
ghis
0.557

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.801

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Polr3c
Phenotype

Gene ontology

Biological process
regulation of transcription by RNA polymerase III;transcription by RNA polymerase III;positive regulation of interferon-beta production;innate immune response;positive regulation of innate immune response;defense response to virus
Cellular component
nucleoplasm;RNA polymerase III complex;cytosol
Molecular function
RNA polymerase III activity;single-stranded DNA binding;DNA-directed 5'-3' RNA polymerase activity;protein binding