POLR1H

RNA polymerase I subunit H, the group of RNA polymerase subunits

Basic information

Region (hg38): 6:30058898-30064909

Previous symbols: [ "ZNRD1" ]

Links

ENSG00000066379 ∙ NCBI:30834 ∙ OMIM:607525 ∙ HGNC:13182 ∙ Uniprot:Q9P1U0 ∙ 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 POLR1H gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POLR1H 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			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	0

Variants in POLR1H

This is a list of pathogenic ClinVar variants found in the POLR1H region.

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

Position	Type	Phenotype	Significance	ClinVar
6-30061586-C-T		not specified	Uncertain significance (Sep 22, 2023)
6-30061610-T-G		not specified	Uncertain significance (May 27, 2022)
6-30062233-C-T		not specified	Uncertain significance (Dec 13, 2022)
6-30062251-C-G		not specified	Uncertain significance (Mar 20, 2024)
6-30062321-G-A		not specified	Uncertain significance (Apr 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POLR1H	protein_coding	protein_coding	ENST00000332435	4	6011

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.207	0.755	123669	0	8	123677	0.0000323

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.00	52	76.8	0.677	0.00000383	827
Missense in Polyphen		12	29.303	0.40951		296
Synonymous	1.05	21	28.1	0.748	0.00000138	239
Loss of Function	1.73	2	6.90	0.290	3.60e-7	72

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000662	0.0000652
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000451	0.0000450
Middle Eastern	0.00	0.00
South Asian	0.0000658	0.0000658
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: DNA-dependent RNA polymerase catalyzes the transcription of DNA into RNA using the four ribonucleoside triphosphates as substrates. Component of RNA polymerase I which synthesizes ribosomal RNA precursors.
• Pathway: Pyrimidine metabolism - Homo sapiens (human);RNA polymerase - Homo sapiens (human);Purine metabolism - Homo sapiens (human);Pyrimidine metabolism;B-WICH complex positively regulates rRNA expression;Positive epigenetic regulation of rRNA expression;NoRC negatively regulates rRNA expression;Negative epigenetic regulation of rRNA expression;Epigenetic regulation of gene expression;Gene expression (Transcription);RNA Polymerase I Promoter Clearance;Purine metabolism;RNA Polymerase I Transcription Termination;RNA Polymerase I Transcription;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;Pyrimidine metabolism;RNA Polymerase I Chain Elongation (Consensus)

Intolerance Scores

• loftool: 0.505
• rvis_EVS: 0.3
• rvis_percentile_EVS: 71.81

Haploinsufficiency Scores

• pHI: 0.0105
• hipred: N
• hipred_score: 0.258
• ghis: 0.492

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.964

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Znrd1

Gene ontology

• Biological process: nucleobase-containing compound metabolic process;transcription initiation from RNA polymerase I promoter;termination of RNA polymerase I transcription;mRNA cleavage;positive regulation of gene expression, epigenetic
• Cellular component: nucleoplasm;RNA polymerase I complex
• Molecular function: RNA polymerase I activity;nucleic acid binding;DNA-directed 5'-3' RNA polymerase activity;zinc ion binding