GeneBe

NRBP1

nuclear receptor binding protein 1

Basic information

Region (hg38): 2:27427790-27442259

Previous symbols: [ "NRBP" ]

Links

ENSG00000115216 ∙ NCBI:29959 ∙ OMIM:606010 ∙ HGNC:7993 ∙ Uniprot:Q9UHY1 ∙ 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 NRBP1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NRBP1 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
18
clinvar
1
clinvar
 19
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 18 0 1

Variants in NRBP1

This is a list of pathogenic ClinVar variants found in the NRBP1 region.

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

Position Type Phenotype Significance ClinVar
2-27433398-C-G not specified Uncertain significance (Apr 17, 2023)2508806
2-27434070-A-G not specified Uncertain significance (Apr 15, 2024)3300996
2-27434547-C-T not specified Uncertain significance (Jun 28, 2024)3407728
2-27437298-T-G not specified Uncertain significance (Jun 10, 2024)3300998
2-27437353-T-C not specified Uncertain significance (Jan 19, 2022)2272428
2-27439796-C-T not specified Uncertain significance (Apr 19, 2024)3300997
2-27439803-G-A not specified Uncertain significance (Oct 29, 2024)3407730
2-27439857-C-T not specified Uncertain significance (Nov 14, 2024)3407733
2-27439866-T-A not specified Uncertain significance (May 14, 2024)3300994
2-27439869-T-A not specified Uncertain significance (Aug 28, 2024)3407732
2-27440459-G-A Benign (Feb 26, 2018)785961
2-27440474-C-T not specified Uncertain significance (Apr 25, 2023)2540091
2-27440810-G-A not specified Uncertain significance (Aug 05, 2024)3407731
2-27440840-C-T not specified Uncertain significance (Jun 30, 2022)2299498
2-27440843-G-A not specified Uncertain significance (Oct 29, 2021)2257863
2-27440905-C-T not specified Uncertain significance (Jan 15, 2025)3880972
2-27441138-G-T not specified Uncertain significance (Nov 27, 2024)3407729
2-27441158-T-C not specified Uncertain significance (Jan 25, 2023)2478998
2-27441295-A-G not specified Uncertain significance (May 21, 2024)3300995
2-27441749-G-C not specified Uncertain significance (Mar 06, 2025)3880973
2-27441752-C-A not specified Uncertain significance (Feb 05, 2024)3202026

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
NRBP1protein_codingprotein_codingENST00000233557 1714470
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.000.0000176125745021257470.00000795
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense3.431292940.4380.00001553493
Missense in Polyphen20118.940.168151483
Synonymous1.16971130.8610.000006101034
Loss of Function5.34135.20.02840.00000185396

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000008800.00000879
Middle Eastern0.000.00
South Asian0.000.00
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: May play a role in subcellular trafficking between the endoplasmic reticulum and Golgi apparatus through interactions with the Rho-type GTPases. Binding to the NS3 protein of dengue virus type 2 appears to subvert this activity into the alteration of the intracellular membrane structure associated with flaviviral replication. {ECO:0000269|PubMed:11956649, ECO:0000269|PubMed:15084397, ECO:0000303|PubMed:11956649}.;
Pathway
Gene expression (Transcription);Generic Transcription Pathway;Nuclear Receptor transcription pathway;RNA Polymerase II Transcription (Consensus)

Recessive Scores

pRec
0.124

Intolerance Scores

loftool
0.288
rvis_EVS
-0.27
rvis_percentile_EVS
34.32

Haploinsufficiency Scores

pHI
0.126
hipred
Y
hipred_score
0.783
ghis
0.570

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
E
essential_gene_gene_trap
H
gene_indispensability_pred
E
gene_indispensability_score
0.973

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Nrbp1
Phenotype
endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; cellular phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; neoplasm; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); digestive/alimentary phenotype; skeleton phenotype;

Gene ontology

Biological process
transcription initiation from RNA polymerase II promoter;protein phosphorylation;endoplasmic reticulum to Golgi vesicle-mediated transport;intracellular signal transduction
Cellular component
nucleoplasm;cytoplasm;cell cortex;endomembrane system;membrane;lamellipodium
Molecular function
protein serine/threonine kinase activity;protein binding;ATP binding;protein homodimerization activity