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POLR3D

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

Basic information

Region (hg38): 8:22245132-22254601

Previous symbols: [ "BN51T" ]

Links

ENSG00000168495NCBI:661OMIM:187280HGNC:1080Uniprot:P05423AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the POLR3D gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POLR3D 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
30
clinvar
30
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 30 0 0

Variants in POLR3D

This is a list of pathogenic ClinVar variants found in the POLR3D region.

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

Position Type Phenotype Significance ClinVar
8-22245487-C-G not specified Uncertain significance (May 04, 2022)2287453
8-22245499-G-A not specified Uncertain significance (Dec 21, 2022)2411439
8-22245499-G-T not specified Uncertain significance (Jan 16, 2024)3216584
8-22245511-C-T not specified Uncertain significance (Oct 13, 2023)3216586
8-22245516-G-A not specified Uncertain significance (Jan 23, 2024)2397742
8-22245537-C-T not specified Uncertain significance (Feb 21, 2024)3216587
8-22245559-C-G not specified Uncertain significance (May 09, 2023)2545484
8-22247246-G-T not specified Uncertain significance (Nov 07, 2023)3216581
8-22247868-A-G not specified Uncertain significance (Aug 04, 2023)2616455
8-22247910-G-A not specified Uncertain significance (Aug 15, 2023)2601758
8-22247916-G-A not specified Uncertain significance (Jan 16, 2024)3216582
8-22247919-A-C not specified Uncertain significance (Apr 12, 2023)2519373
8-22248165-A-G not specified Uncertain significance (May 17, 2023)2548134
8-22248258-C-T not specified Uncertain significance (Jul 20, 2021)2238717
8-22248267-G-A not specified Uncertain significance (Sep 17, 2021)2204809
8-22248276-G-A not specified Uncertain significance (Oct 05, 2023)3216583
8-22248487-G-A not specified Uncertain significance (May 24, 2023)2551133
8-22248556-C-T not specified Uncertain significance (Mar 01, 2024)3216585
8-22249122-T-C not specified Uncertain significance (Sep 14, 2022)2227284
8-22249124-C-T not specified Uncertain significance (Mar 07, 2023)2494882
8-22249223-C-T not specified Uncertain significance (Jan 26, 2022)2354035
8-22249226-C-T not specified Uncertain significance (Sep 27, 2021)2325783
8-22249260-T-G not specified Uncertain significance (Jan 05, 2022)2270225
8-22250099-T-C not specified Uncertain significance (Feb 16, 2023)2486658
8-22250105-C-G not specified Uncertain significance (Jan 30, 2024)3216588

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
POLR3Dprotein_codingprotein_codingENST00000397802 89497
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
3.83e-110.1771256830651257480.000258
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3581952100.9300.00001152568
Missense in Polyphen4054.4160.73507668
Synonymous-0.8059080.81.110.00000463814
Loss of Function0.6841821.40.8410.00000155215

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0006520.000652
Ashkenazi Jewish0.000.00
East Asian0.0002720.000272
Finnish0.0001390.000139
European (Non-Finnish)0.0002200.000220
Middle Eastern0.0002720.000272
South Asian0.0004250.000425
Other0.0001640.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Specific peripheric component of RNA polymerase III which synthesizes small RNAs, such as 5S rRNA and tRNAs. 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 (By similarity). {ECO:0000250, ECO:0000269|PubMed:19609254, ECO:0000269|PubMed:19631370}.;
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;Eukaryotic Transcription Initiation;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;Validated targets of C-MYC transcriptional activation (Consensus)

Recessive Scores

pRec
0.124

Intolerance Scores

loftool
0.381
rvis_EVS
-0.38
rvis_percentile_EVS
27.69

Haploinsufficiency Scores

pHI
0.454
hipred
Y
hipred_score
0.602
ghis
0.575

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
H
gene_indispensability_pred
E
gene_indispensability_score
0.989

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Polr3d
Phenotype

Gene ontology

Biological process
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
nuclear chromatin;nucleoplasm;RNA polymerase III complex;cytosol;nuclear speck
Molecular function
RNA polymerase III activity;DNA binding;chromatin binding