BRI3BP

BRI3 binding protein

Basic information

Region (hg38): 12:124993644-125031231

Links

ENSG00000184992 ∙ NCBI:140707 ∙ OMIM:615627 ∙ HGNC:14251 ∙ Uniprot:Q8WY22 ∙ 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 BRI3BP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BRI3BP 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			15	2		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	2	0

Variants in BRI3BP

This is a list of pathogenic ClinVar variants found in the BRI3BP region.

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

Position	Type	Phenotype	Significance	ClinVar
12-124993794-G-C		not specified	Uncertain significance (Apr 23, 2024)
12-124993818-C-G		not specified	Uncertain significance (Apr 28, 2023)
12-124993926-T-C		not specified	Uncertain significance (Sep 26, 2023)
12-124993929-C-A		not specified	Uncertain significance (Apr 14, 2022)
12-124993930-G-A		not specified	Uncertain significance (May 01, 2024)
12-124993938-G-A		not specified	Uncertain significance (Dec 30, 2023)
12-124993949-C-G		not specified	Uncertain significance (Dec 01, 2022)
12-124993963-G-C		not specified	Uncertain significance (Mar 29, 2023)
12-124993984-A-G		not specified	Uncertain significance (Oct 06, 2021)
12-125012556-G-A		not specified	Uncertain significance (Mar 28, 2023)
12-125012582-G-A		not specified	Uncertain significance (Oct 12, 2022)
12-125025038-C-T		not specified	Uncertain significance (Jun 24, 2022)
12-125025107-T-C		not specified	Uncertain significance (Mar 01, 2024)
12-125025119-G-A		not specified	Uncertain significance (Feb 22, 2023)
12-125025197-C-A		not specified	Uncertain significance (Mar 14, 2023)
12-125025206-G-A		not specified	Uncertain significance (Nov 27, 2023)
12-125025263-A-G		not specified	Uncertain significance (Mar 06, 2023)
12-125025302-A-G		not specified	Likely benign (Jan 17, 2024)
12-125025305-G-A		not specified	Likely benign (Dec 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BRI3BP	protein_coding	protein_coding	ENST00000341446	3	37532

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0644	0.877	125738	0	9	125747	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.20	100	140	0.715	0.00000952	1582
Missense in Polyphen		47	64.689	0.72656		651
Synonymous	-0.799	78	69.5	1.12	0.00000531	558
Loss of Function	1.59	3	7.80	0.385	4.18e-7	83

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000431	0.000431
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in tumorigenesis and may function by stabilizing p53/TP53. {ECO:0000269|PubMed:17943721}.
• Pathway: miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase (Consensus)

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.157
• rvis_EVS: -0.36
• rvis_percentile_EVS: 28.63

Haploinsufficiency Scores

• pHI: 0.157
• hipred: N
• hipred_score: 0.429
• ghis: 0.652

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.231

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Bri3bp

Gene ontology

• Cellular component: mitochondrion;mitochondrial outer membrane;integral component of membrane