POLR1G

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

Basic information

Region (hg38): 19:45406643-45410737

Previous symbols: [ "CD3EAP" ]

Links

ENSG00000117877 ∙ NCBI:10849 ∙ OMIM:107325 ∙ HGNC:24219 ∙ Uniprot:O15446 ∙ 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 POLR1G gene.

• not provided (22 variants)
• Inborn genetic diseases (9 variants)
• not specified (1 variants)
• Cerebrooculofacioskeletal syndrome 4 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POLR1G 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				1		1
missense			8	1	3	12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding				7	10	17
Total	0	0	8	9	13

Variants in POLR1G

This is a list of pathogenic ClinVar variants found in the POLR1G region.

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

Position	Type	Phenotype	Significance	ClinVar
19-45406703-G-A		not specified	Uncertain significance (Sep 15, 2021)
19-45406707-C-T		not specified	Uncertain significance (Feb 28, 2024)
19-45407106-T-C		not specified	Uncertain significance (Jan 26, 2022)
19-45407107-C-G		not specified	Uncertain significance (Jun 06, 2023)
19-45407135-C-G		not specified	Uncertain significance (Oct 26, 2022)
19-45408198-G-A		not specified	Uncertain significance (Jan 26, 2023)
19-45408204-G-A		not specified	Uncertain significance (Dec 06, 2022)
19-45408224-T-C		not specified	Uncertain significance (Aug 17, 2022)
19-45408243-C-T		not specified	Uncertain significance (Apr 07, 2023)
19-45408255-C-T		not specified	Uncertain significance (Mar 28, 2023)
19-45408273-G-A		not specified	Uncertain significance (Aug 02, 2021)
19-45408377-C-T		not specified	Uncertain significance (May 23, 2023)
19-45408417-G-A		not specified	Uncertain significance (Sep 26, 2023)
19-45408444-C-T		not specified	Uncertain significance (Mar 02, 2023)
19-45408504-T-C		not specified	Uncertain significance (Jan 23, 2024)
19-45408536-G-T		not specified	Uncertain significance (Aug 17, 2022)
19-45408593-G-A		not specified	Uncertain significance (Jan 09, 2024)
19-45408645-C-G		not specified	Uncertain significance (Oct 10, 2023)
19-45408653-C-T		not specified	Uncertain significance (Nov 12, 2021)
19-45408720-A-G		not specified	Uncertain significance (Jul 13, 2022)
19-45408744-A-C			Benign (Jan 30, 2024)
19-45408812-A-G		Cerebrooculofacioskeletal syndrome 4 • not specified • ERCC1-related disorder	Conflicting classifications of pathogenicity (Jan 20, 2024)
19-45408851-G-C		not specified	Uncertain significance (Apr 04, 2023)
19-45408855-C-T		not specified	Uncertain significance (Jan 02, 2024)
19-45408960-A-G		not specified	Uncertain significance (Jan 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POLR1G	protein_coding	protein_coding	ENST00000309424	3	4558

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0316	0.620	125385	0	91	125476	0.000363

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.348	270	287	0.942	0.0000156	3258
Missense in Polyphen		75	76.877	0.97559		941
Synonymous	0.0381	120	121	0.996	0.00000681	1094
Loss of Function	0.245	2	2.41	0.829	1.02e-7	33

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00338	0.00338
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000820	0.000816

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. Isoform 1 is involved in UBTF-activated transcription, presumably at a step following PIC formation.
• Pathway: 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;RNA Polymerase I Transcription Termination;RNA Polymerase I Transcription;RNA Polymerase I Transcription Initiation;RNA Polymerase I Promoter Escape;RNA Polymerase I Chain Elongation (Consensus)

Recessive Scores

• pRec: 0.122

Intolerance Scores

• loftool: 0.774
• rvis_EVS: 1.73
• rvis_percentile_EVS: 96.6

Haploinsufficiency Scores

• pHI: 0.230
• hipred: N
• hipred_score: 0.412

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.916

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cd3eap

Gene ontology

• Biological process: transcription initiation from RNA polymerase I promoter;termination of RNA polymerase I transcription;transmembrane receptor protein tyrosine kinase signaling pathway;rRNA transcription;positive regulation of gene expression, epigenetic
• Cellular component: RNA polymerase I transcription factor complex;fibrillar center;nucleus;nucleoplasm;chromosome;nucleolus;mitochondrion;cytosol
• Molecular function: RNA binding;DNA-directed 5'-3' RNA polymerase activity