BROX

BRO1 domain and CAAX motif containing

Basic information

Region (hg38): 1:222712553-222735196

Previous symbols: [ "C1orf58" ]

Links

ENSG00000162819 ∙ NCBI:148362 ∙ ∙ HGNC:26512 ∙ Uniprot:Q5VW32 ∙ 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 BROX gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BROX 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			23		1	24
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	23	0	2

Variants in BROX

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

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

Position	Type	Phenotype	Significance	ClinVar
1-222715755-A-G		not specified	Uncertain significance (May 30, 2024)
1-222718971-T-G		not specified	Uncertain significance (Jul 26, 2024)
1-222718983-C-A			Benign (Jan 25, 2018)
1-222719274-T-A		not specified	Uncertain significance (Jul 14, 2021)
1-222719281-A-G		not specified	Uncertain significance (Mar 19, 2024)
1-222719287-C-G		not specified	Uncertain significance (Sep 08, 2024)
1-222719326-A-G		not specified	Uncertain significance (Jan 31, 2024)
1-222719341-T-G		not specified	Uncertain significance (Sep 22, 2023)
1-222722451-C-A		not specified	Uncertain significance (Feb 11, 2022)
1-222725481-C-T		not specified	Uncertain significance (Jun 16, 2024)
1-222725482-G-A			Benign (Jul 17, 2018)
1-222725514-T-C		not specified	Uncertain significance (Nov 13, 2024)
1-222725517-A-G		not specified	Uncertain significance (Oct 28, 2024)
1-222725547-C-T		not specified	Uncertain significance (Jan 18, 2025)
1-222727185-A-G		not specified	Uncertain significance (Dec 12, 2023)
1-222727207-G-A		not specified	Uncertain significance (Sep 09, 2024)
1-222727225-C-T		not specified	Uncertain significance (Jul 11, 2023)
1-222728806-A-C		not specified	Uncertain significance (Jun 28, 2024)
1-222730030-A-T		not specified	Uncertain significance (Jun 21, 2023)
1-222730060-A-G		not specified	Uncertain significance (Oct 25, 2024)
1-222730104-C-T		not specified	Uncertain significance (Nov 20, 2024)
1-222731376-A-G		not specified	Uncertain significance (Sep 28, 2021)
1-222731433-T-G		not specified	Uncertain significance (May 18, 2022)
1-222731437-A-C		not specified	Uncertain significance (Mar 26, 2024)
1-222732638-A-G		not specified	Uncertain significance (Jan 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BROX	protein_coding	protein_coding	ENST00000340934	12	22644

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.20e-11	0.545	125590	4	148	125742	0.000605

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.383	191	207	0.925	0.00000962	2667
Missense in Polyphen		49	65.948	0.74301		845
Synonymous	0.173	70	71.9	0.974	0.00000351	755
Loss of Function	1.32	20	27.5	0.728	0.00000158	330

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000900	0.000894
Ashkenazi Jewish	0.00	0.00
East Asian	0.000613	0.000598
Finnish	0.00	0.00
European (Non-Finnish)	0.000188	0.000185
Middle Eastern	0.000613	0.000598
South Asian	0.00346	0.00330
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.106

Intolerance Scores

• rvis_EVS: -0.12
• rvis_percentile_EVS: 45.13

Haploinsufficiency Scores

• pHI: 0.211
• hipred: Y
• hipred_score: 0.646
• ghis: 0.563

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Brox

Gene ontology

• Cellular component: membrane;extracellular exosome
• Molecular function: protein binding