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GeneBe

RRBP1

ribosome binding protein 1

Basic information

Region (hg38): 20:17613677-17682295

Links

ENSG00000125844NCBI:6238OMIM:601418HGNC:10448Uniprot:Q9P2E9AlphaFoldGenCCjaxSfariGnomADPubmed

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 (30 variants)
  • not provided (18 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.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous 2 3 5
missense 29 3 6 38
nonsense 0
start loss 0
frameshift 0
inframe indel 0
splice variant 1 3 4
non coding 1 1
Total 0 0 29 6 13

Variants in RRBP1

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

Position Type Phenotype Significance ClinVar
20-17614754-C-T Inborn genetic diseases Uncertain significance (May 26, 2022)link
20-17614825-C-T Benign (Jun 18, 2018)link
20-17614835-C-T Inborn genetic diseases Uncertain significance (Apr 18, 2023)link
20-17615528-G-C Inborn genetic diseases Uncertain significance (May 28, 2023)link
20-17615930-T-C Inborn genetic diseases Uncertain significance (Apr 12, 2022)link
20-17615937-C-T Likely benign (Dec 31, 2019)link
20-17615941-C-T Benign (Dec 31, 2019)link
20-17616724-G-A Benign (Dec 31, 2019)link
20-17616737-C-T Benign (Jun 27, 2018)link
20-17616749-C-T Inborn genetic diseases Uncertain significance (Dec 03, 2021)link
20-17616806-C-T Inborn genetic diseases Uncertain significance (Dec 07, 2021)link
20-17619679-G-A Inborn genetic diseases Uncertain significance (Mar 02, 2023)link
20-17619692-C-T Inborn genetic diseases Uncertain significance (Aug 19, 2023)link
20-17619715-G-A Inborn genetic diseases Uncertain significance (Sep 15, 2021)link
20-17620305-C-T Likely benign (Feb 20, 2018)link
20-17620347-G-A Benign/Likely benign (Dec 01, 2022)link
20-17620366-C-T Inborn genetic diseases Uncertain significance (Feb 16, 2023)link
20-17620738-C-T Inborn genetic diseases Uncertain significance (May 23, 2023)link
20-17620765-C-T Inborn genetic diseases Uncertain significance (Feb 16, 2023)link
20-17620777-C-T Inborn genetic diseases Uncertain significance (Aug 10, 2021)link
20-17621458-C-T Benign (Jun 18, 2018)link
20-17621475-T-C Inborn genetic diseases Uncertain significance (Nov 17, 2022)link
20-17621691-G-A Inborn genetic diseases Likely benign (Dec 13, 2022)link
20-17621703-G-A Inborn genetic diseases Uncertain significance (Oct 03, 2022)link
20-17621719-G-A Benign (Jun 18, 2018)link

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RRBP1protein_codingprotein_codingENST00000377807 2468618
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
2.29e-111.001256830651257480.000258
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.04975755780.9940.00003636313
Missense in Polyphen4963.180.77556699
Synonymous-1.672892551.130.00001761879
Loss of Function3.512755.10.4900.00000242660

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0005110.000508
Ashkenazi Jewish0.0001000.0000992
East Asian0.0007680.000761
Finnish0.0002800.000277
European (Non-Finnish)0.0002320.000229
Middle Eastern0.0007680.000761
South Asian0.00009800.0000980
Other0.0003420.000326

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

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Rrbp1
Phenotype

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