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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			40	1		41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1	1		2
non coding					1	1
Total	0	0	40	1	1

Variants in POLR3C

This is a list of pathogenic ClinVar variants found in the POLR3C region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-145825847-T-C		not specified	Uncertain significance (Dec 28, 2022)
1-145825868-C-T		not specified	Uncertain significance (Mar 01, 2023)
1-145826496-A-T		not specified	Uncertain significance (Dec 14, 2022)
1-145826497-G-C		not specified	Uncertain significance (Oct 12, 2021)
1-145826505-G-C		not specified	Uncertain significance (Aug 20, 2024)
1-145826515-G-A		not specified	Uncertain significance (Nov 02, 2023)
1-145826539-A-G		not specified	Uncertain significance (Apr 19, 2023)
1-145826557-G-A		Decreased total neutrophil count;Decreased total lymphocyte count	Likely benign (May 01, 2020)
1-145826574-C-T		not specified	Uncertain significance (May 18, 2023)
1-145826604-A-G		not specified	Uncertain significance (Mar 04, 2025)
1-145826831-A-G		not specified	Uncertain significance (Jul 14, 2024)
1-145826845-A-C		POLR3C-related disorder	Likely benign (Apr 30, 2024)
1-145826891-C-T		not specified	Uncertain significance (Aug 20, 2024)
1-145826892-G-A		not specified	Uncertain significance (Dec 25, 2024)
1-145826932-GC-G		POLR3C-related disorder	Uncertain significance (Apr 18, 2024)
1-145826949-C-G		not specified	Uncertain significance (Aug 13, 2021)
1-145826967-A-G		POLR3C-related disorder	Likely benign (Sep 21, 2023)
1-145826978-T-C		not specified	Uncertain significance (Dec 09, 2023)
1-145826991-A-C		POLR3C-related disorder	Likely benign (Oct 18, 2023)
1-145826993-C-T		not specified	Uncertain significance (Sep 28, 2022)
1-145828803-C-G		not specified	Uncertain significance (Aug 10, 2023)
1-145833333-T-C		POLR3C-related disorder	Uncertain significance (Sep 06, 2024)
1-145833335-G-C		POLR3C-related disorder	Uncertain significance (Nov 29, 2022)
1-145833338-A-G		not specified	Uncertain significance (Sep 04, 2024)
1-145833360-A-G		not specified	Uncertain significance (Aug 16, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POLR3C	protein_coding	protein_coding	ENST00000334163	14	18421

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.03e-12	0.567	125380	0	368	125748	0.00146

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.02	247	296	0.833	0.0000155	3483
Missense in Polyphen		64	80.104	0.79896		965
Synonymous	-1.30	125	108	1.16	0.00000552	1041
Loss of Function	1.43	22	30.5	0.721	0.00000172	356

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00241	0.00241
Ashkenazi Jewish	0.0000999	0.0000992
East Asian	0.000653	0.000653
Finnish	0.000419	0.000416
European (Non-Finnish)	0.00230	0.00230
Middle Eastern	0.000653	0.000653
South Asian	0.000426	0.000425
Other	0.00131	0.00130

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

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Polr3c

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