RRP36

ribosomal RNA processing 36, the group of Ribosomal biogenesis factors

Basic information

Region (hg38): 6:43021623-43034156

Previous symbols: [ "C6orf153" ]

Links

ENSG00000124541 ∙ NCBI:88745 ∙ OMIM:613475 ∙ HGNC:21374 ∙ Uniprot:Q96EU6 ∙ 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 RRP36 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RRP36 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			34	2		36
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	2	0

Variants in RRP36

This is a list of pathogenic ClinVar variants found in the RRP36 region.

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

Position	Type	Phenotype	Significance	ClinVar
6-43021668-A-G		not specified	Likely benign (Apr 22, 2024)
6-43021671-A-G		not specified	Uncertain significance (Sep 04, 2024)
6-43021701-C-A		not specified	Uncertain significance (Mar 04, 2024)
6-43021706-C-G		not specified	Uncertain significance (Dec 31, 2024)
6-43021718-G-A		not specified	Uncertain significance (Mar 19, 2024)
6-43021727-C-T		not specified	Uncertain significance (Oct 28, 2024)
6-43021746-G-A		not specified	Uncertain significance (Sep 22, 2022)
6-43021746-G-T		not specified	Uncertain significance (May 30, 2023)
6-43024988-C-T		not specified	Uncertain significance (Sep 04, 2024)
6-43024996-A-G		not specified	Uncertain significance (Jan 04, 2024)
6-43025000-C-T		not specified	Uncertain significance (Feb 28, 2023)
6-43025030-A-G		not specified	Uncertain significance (Jun 21, 2023)
6-43025045-C-T		not specified	Uncertain significance (Jun 29, 2022)
6-43025065-G-A		not specified	Uncertain significance (Jul 17, 2024)
6-43025066-G-C		not specified	Uncertain significance (Jun 27, 2022)
6-43025101-A-G		not specified	Likely benign (Dec 17, 2023)
6-43025119-G-A		not specified	Uncertain significance (Feb 26, 2024)
6-43025128-C-T		not specified	Uncertain significance (Jun 24, 2022)
6-43025304-G-A		not specified	Uncertain significance (Jan 23, 2024)
6-43026040-G-A		not specified	Uncertain significance (Oct 03, 2022)
6-43026053-G-A		not specified	Uncertain significance (Nov 15, 2021)
6-43026067-T-A		not specified	Uncertain significance (Feb 17, 2024)
6-43026114-G-C		not specified	Uncertain significance (Jul 19, 2022)
6-43027195-G-C		not specified	Uncertain significance (Jun 29, 2022)
6-43027223-G-C		not specified	Uncertain significance (Jan 22, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RRP36	protein_coding	protein_coding	ENST00000244496	7	12512

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.93e-14	0.00964	125695	0	53	125748	0.000211

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0801	131	128	1.02	0.00000746	1659
Missense in Polyphen		43	38.827	1.1075		474
Synonymous	-0.679	52	46.1	1.13	0.00000219	500
Loss of Function	-0.429	19	17.1	1.11	0.00000108	183

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000271	0.000271
Ashkenazi Jewish	0.00	0.00
East Asian	0.000489	0.000489
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.000255	0.000255
Middle Eastern	0.000489	0.000489
South Asian	0.000163	0.000163
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in the early processing steps of the pre-rRNA in the maturation pathway leading to the 18S rRNA. {ECO:0000269|PubMed:20038530}.
• Pathway: rRNA processing;Metabolism of RNA;rRNA modification in the nucleus and cytosol;rRNA processing in the nucleus and cytosol (Consensus)

Recessive Scores

• pRec: 0.0943

Intolerance Scores

• rvis_EVS: 0.26
• rvis_percentile_EVS: 70.44

Haploinsufficiency Scores

• pHI: 0.0398
• hipred: N
• hipred_score: 0.242
• ghis: 0.528

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rrp36

Gene ontology

• Biological process: maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA);cleavage involved in rRNA processing;rRNA processing;ribosomal small subunit biogenesis
• Cellular component: nucleus;nucleoplasm;nucleolus;90S preribosome
• Molecular function: RNA binding