GeneBe

POLR3F

RNA polymerase III subunit F, the group of RNA polymerase subunits|MicroRNA protein coding host genes

Basic information

Region (hg38): 20:18466878-18484648

Links

ENSG00000132664 ∙ NCBI:10621 ∙ OMIM:617455 ∙ HGNC:15763 ∙ Uniprot:Q9H1D9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • immunodeficiency 101 (varicella zoster virus-specific) (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Immunodeficiency 101 (varicella zoster virus-specific)ADAllergy/Immunology/InfectiousThe condition involves susceptibility to sequelae of varicella infection, and acycloviri has been described as beneficialAllergy/Immunology/Infectious30211253

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the POLR3F gene.

  • not_provided (132 variants)
  • not_specified (23 variants)
  • Immunodeficiency_101_(varicella_zoster_virus-specific) (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POLR3F gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006466.4. 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
10
clinvar
16
clinvar
3
clinvar
 29
missense
56
clinvar
1
clinvar
1
clinvar
 58
nonsense
1
clinvar
2
clinvar
 3
start loss
0
frameshift
5
clinvar
 5
splice donor/acceptor (+/-2bp)
1
clinvar
1
clinvar
 2
Total 1 0 74 18 4
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
POLR3Fprotein_codingprotein_codingENST00000377603 917517
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.000001040.79812564401031257470.000410
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.651091690.6440.000008332085
Missense in Polyphen1943.0560.44128547
Synonymous1.114960.00.8170.00000300550
Loss of Function1.351218.20.6588.69e-7228

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0001520.000152
Ashkenazi Jewish0.006330.00537
East Asian0.0001160.000109
Finnish0.0002770.000277
European (Non-Finnish)0.0002620.000255
Middle Eastern0.0001160.000109
South Asian0.00006530.0000653
Other0.001210.00114

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. May direct RNA Pol III binding to the TFIIIB-DNA complex. 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 double-stranded DNA (dsDNA) (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
0.117

Intolerance Scores

loftool
0.427
rvis_EVS
-0.27
rvis_percentile_EVS
33.97

Haploinsufficiency Scores

pHI
0.202
hipred
Y
hipred_score
0.765
ghis
0.657

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.993

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Polr3f
Phenotype
integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); immune system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype;

Zebrafish Information Network

Gene name
polr3f
Affected structure
head
Phenotype tag
abnormal
Phenotype quality
decreased size

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;double-stranded DNA binding;DNA-directed 5'-3' RNA polymerase activity;protein binding