BRI3

brain protein I3

Basic information

Region (hg38): 7:98252379-98310441

Links

ENSG00000164713 ∙ NCBI:25798 ∙ OMIM:615628 ∙ HGNC:1109 ∙ Uniprot:O95415 ∙ 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 BRI3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BRI3 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					1	1
missense			9			9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	9	0	1

Variants in BRI3

This is a list of pathogenic ClinVar variants found in the BRI3 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-98281808-C-G		not specified	Uncertain significance (Mar 21, 2023)
7-98281821-A-G		not specified	Uncertain significance (May 05, 2023)
7-98281830-C-G		not specified	Uncertain significance (Nov 13, 2024)
7-98282355-A-G		not specified	Uncertain significance (Aug 04, 2023)
7-98282362-C-G		not specified	Uncertain significance (Mar 29, 2022)
7-98282362-C-T		not specified	Uncertain significance (Mar 12, 2024)
7-98282388-C-T			Benign (Jul 23, 2018)
7-98282401-A-C		not specified	Uncertain significance (Aug 27, 2024)
7-98291161-T-C		not specified	Uncertain significance (Feb 15, 2023)
7-98291181-T-C		not specified	Uncertain significance (Nov 21, 2023)
7-98293549-T-C		not specified	Uncertain significance (Apr 29, 2024)
7-98293552-G-A		not specified	Uncertain significance (Nov 09, 2024)
7-98294086-G-A		not specified	Uncertain significance (Dec 03, 2024)
7-98294092-G-A			Uncertain significance (Jun 30, 2022)
7-98304210-C-T		not specified	Uncertain significance (Sep 10, 2024)
7-98304245-G-A		not specified	Uncertain significance (Nov 18, 2022)
7-98304254-G-A		not specified	Uncertain significance (Jan 24, 2024)
7-98304268-G-T		not specified	Uncertain significance (Oct 03, 2022)
7-98304270-C-T		not specified	Uncertain significance (Dec 21, 2023)
7-98304271-G-A			Likely benign (Sep 01, 2022)
7-98304311-G-T		not specified	Uncertain significance (Aug 13, 2021)
7-98304324-C-T		not specified	Uncertain significance (Mar 19, 2024)
7-98304336-C-T		not specified	Uncertain significance (May 08, 2023)
7-98304348-C-T		not specified	Uncertain significance (Nov 23, 2022)
7-98306454-G-T		not specified	Uncertain significance (Dec 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BRI3	protein_coding	protein_coding	ENST00000297290	3	55472

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0338	0.633	125740	0	4	125744	0.0000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.108	51	53.2	0.958	0.00000281	794
Missense in Polyphen		32	30.326	1.0552		398
Synonymous	-3.20	39	20.6	1.90	0.00000105	267
Loss of Function	0.310	2	2.53	0.790	1.07e-7	49

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000265	0.0000264
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Participates in tumor necrosis factor-alpha (TNF)- induced cell death (PubMed:14592447). May be a target of Wnt/beta- catenin signaling in the liver (PubMed:20538055). {ECO:0000269|PubMed:14592447, ECO:0000269|PubMed:20538055}.
• Pathway: Neutrophil degranulation;Innate Immune System;Immune System (Consensus)

Recessive Scores

• pRec: 0.212

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.248
• ghis: 0.577

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Bri3

Gene ontology

• Biological process: neutrophil degranulation
• Cellular component: plasma membrane;integral component of membrane;azurophil granule membrane
• Molecular function: identical protein binding