RPP21

ribonuclease P/MRP subunit p21

Basic information

Region (hg38): 6:30345130-30346884

Previous symbols: [ "C6orf135" ]

Links

ENSG00000241370 ∙ NCBI:79897 ∙ OMIM:612524 ∙ HGNC:21300 ∙ Uniprot:Q9H633 ∙ 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 RPP21 gene.

• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RPP21 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	1	0	0

Variants in RPP21

This is a list of pathogenic ClinVar variants found in the RPP21 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-30345481-C-T		not specified	Uncertain significance (Mar 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RPP21	protein_coding	protein_coding	ENST00000433076	5	1754

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000490	0.442	125715	0	15	125730	0.0000597

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.287	88	95.9	0.917	0.00000510	1026
Missense in Polyphen		28	33.694	0.83102		356
Synonymous	-1.05	47	38.7	1.21	0.00000190	327
Loss of Function	0.348	7	8.07	0.868	3.50e-7	85

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.000125	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000568	0.0000528
Middle Eastern	0.000125	0.000109
South Asian	0.0000329	0.0000327
Other	0.000174	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component 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)

Recessive Scores

• pRec: 0.108

Intolerance Scores

• rvis_EVS: 0.55
• rvis_percentile_EVS: 81.22

Haploinsufficiency Scores

• pHI: 0.150
• hipred: N
• hipred_score: 0.381
• ghis: 0.397

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.515

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rpp21

Gene ontology

• Biological process: tRNA 5'-leader removal;tRNA processing;response to drug;RNA phosphodiester bond hydrolysis, endonucleolytic
• Cellular component: nucleoplasm;nucleolar ribonuclease P complex;multimeric ribonuclease P complex
• Molecular function: ribonuclease P activity;metal ion binding