RPP14

ribonuclease P/MRP subunit p14

Basic information

Region (hg38): 3:58306245-58324695

Links

ENSG00000163684 ∙ NCBI:11102 ∙ OMIM:606112 ∙ HGNC:30327 ∙ Uniprot:O95059 ∙ 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 RPP14 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPP14 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			8		1	9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	8	0	1

Variants in RPP14

This is a list of pathogenic ClinVar variants found in the RPP14 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-58310340-C-T		not specified	Uncertain significance (Jun 11, 2024)
3-58310376-C-T		not specified	Uncertain significance (Dec 16, 2023)
3-58310378-T-G		not specified	Uncertain significance (Dec 19, 2022)
3-58310381-G-A		not specified	Uncertain significance (Feb 14, 2025)
3-58310575-A-G		not specified	Uncertain significance (May 29, 2024)
3-58316507-A-G			Benign (Dec 19, 2017)
3-58316527-T-A		not specified	Uncertain significance (Feb 15, 2023)
3-58316930-G-T		not specified	Uncertain significance (Oct 04, 2024)
3-58316959-A-G		not specified	Uncertain significance (Mar 23, 2022)
3-58316964-G-A		not specified	Uncertain significance (Dec 30, 2024)
3-58316983-G-A			Benign (May 17, 2018)
3-58317473-A-G		not specified	Uncertain significance (Dec 19, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPP14	protein_coding	protein_coding	ENST00000445193	5	18449

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00193	0.747	125731	0	16	125747	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.659	48	62.7	0.766	0.00000294	786
Missense in Polyphen		13	18.321	0.70957		240
Synonymous	-0.174	28	26.9	1.04	0.00000141	243
Loss of Function	0.891	5	7.66	0.653	3.21e-7	102

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000883	0.0000883
Ashkenazi Jewish	0.00	0.00
East Asian	0.000217	0.000217
Finnish	0.00	0.00
European (Non-Finnish)	0.0000792	0.0000791
Middle Eastern	0.000217	0.000217
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Part of ribonuclease P, a protein complex that generates mature tRNA molecules by cleaving their 5'-ends.
• Pathway: RNA transport - Homo sapiens (human);tRNA processing;Metabolism of RNA;tRNA processing in the nucleus (Consensus)

Intolerance Scores

• rvis_EVS: 0.44
• rvis_percentile_EVS: 77.45

Haploinsufficiency Scores

• pHI: 0.103
• hipred: N
• hipred_score: 0.322
• ghis: 0.407

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.993

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rpp14

Gene ontology

• Biological process: tRNA 5'-leader removal;RNA phosphodiester bond hydrolysis, endonucleolytic
• Cellular component: nucleus;nucleoplasm;multimeric ribonuclease P complex
• Molecular function: RNA binding;ribonuclease P activity