RRBP1

ribosome binding protein 1

Basic information

Region (hg38): 20:17613677-17682295

Links

ENSG00000125844 ∙ NCBI:6238 ∙ OMIM:601418 ∙ HGNC:10448 ∙ Uniprot:Q9P2E9 ∙ 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 RRBP1 gene.

• Inborn genetic diseases (48 variants)
• not provided (26 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RRBP1 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				11	2	13
missense			47	3	6	56
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	3	4
non coding					1	1
Total	0	0	47	14	9

Variants in RRBP1

This is a list of pathogenic ClinVar variants found in the RRBP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
20-17614754-C-T		not specified	Uncertain significance (May 26, 2022)
20-17614825-C-T			Benign (Jun 18, 2018)
20-17614835-C-T		not specified	Uncertain significance (Apr 18, 2023)
20-17615483-C-A		not specified	Uncertain significance (Nov 02, 2023)
20-17615528-G-C		not specified	Uncertain significance (May 28, 2023)
20-17615930-T-C		not specified	Uncertain significance (Apr 12, 2022)
20-17615937-C-T			Likely benign (Dec 31, 2019)
20-17615941-C-T			Benign (Dec 31, 2019)
20-17615946-G-A		not specified	Uncertain significance (Dec 08, 2023)
20-17616724-G-A			Benign (Dec 31, 2019)
20-17616737-C-T			Benign (Jun 27, 2018)
20-17616749-C-T		not specified	Uncertain significance (Dec 28, 2023)
20-17616758-G-A		not specified	Uncertain significance (Oct 17, 2023)
20-17616806-C-T		not specified	Uncertain significance (Dec 07, 2021)
20-17619665-C-T		not specified	Uncertain significance (Dec 27, 2023)
20-17619679-G-A		not specified	Uncertain significance (Mar 02, 2023)
20-17619692-C-T		not specified	Uncertain significance (Aug 19, 2023)
20-17619715-G-A		not specified	Uncertain significance (Sep 15, 2021)
20-17620305-C-T			Likely benign (Feb 20, 2018)
20-17620347-G-A			Benign/Likely benign (Dec 01, 2022)
20-17620366-C-G		not specified	Uncertain significance (Nov 27, 2023)
20-17620366-C-T		not specified	Uncertain significance (Feb 16, 2023)
20-17620738-C-T		not specified	Uncertain significance (May 23, 2023)
20-17620765-C-T		not specified	Uncertain significance (Feb 16, 2023)
20-17620777-C-T		not specified	Uncertain significance (Aug 10, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RRBP1	protein_coding	protein_coding	ENST00000377807	24	68618

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.29e-11	1.00	125683	0	65	125748	0.000258

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0497	575	578	0.994	0.0000363	6313
Missense in Polyphen		49	63.18	0.77556		699
Synonymous	-1.67	289	255	1.13	0.0000176	1879
Loss of Function	3.51	27	55.1	0.490	0.00000242	660

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000511	0.000508
Ashkenazi Jewish	0.000100	0.0000992
East Asian	0.000768	0.000761
Finnish	0.000280	0.000277
European (Non-Finnish)	0.000232	0.000229
Middle Eastern	0.000768	0.000761
South Asian	0.0000980	0.0000980
Other	0.000342	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a ribosome receptor and mediates interaction between the ribosome and the endoplasmic reticulum membrane. {ECO:0000250}.
• Pathway: Protein processing in endoplasmic reticulum - Homo sapiens (human);Ectoderm Differentiation (Consensus)

Recessive Scores

• pRec: 0.233

Intolerance Scores

• loftool: 0.709
• rvis_EVS: 0.11
• rvis_percentile_EVS: 61.74

Haploinsufficiency Scores

• pHI: 0.171
• hipred: Y
• hipred_score: 0.542
• ghis: 0.462

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.975

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rrbp1

Gene ontology

• Biological process: osteoblast differentiation;translation;protein transport
• Cellular component: endoplasmic reticulum;ribosome;membrane;integral component of endoplasmic reticulum membrane
• Molecular function: RNA binding;signaling receptor activity