BRICD5

BRICHOS domain containing 5, the group of BRICHOS domain containing

Basic information

Region (hg38): 16:2209253-2210905

Previous symbols: [ "C16orf79" ]

Links

ENSG00000182685 ∙ NCBI:283870 ∙ ∙ HGNC:28309 ∙ Uniprot:Q6PL45 ∙ 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 BRICD5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BRICD5 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			33	8		41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	33	8	0

Variants in BRICD5

This is a list of pathogenic ClinVar variants found in the BRICD5 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-2209367-C-A		not specified	Uncertain significance (Jun 17, 2024)
16-2209405-C-T		not specified	Uncertain significance (Jan 21, 2025)
16-2209406-T-A		not specified	Uncertain significance (Dec 03, 2024)
16-2209408-G-A		not specified	Uncertain significance (Jun 10, 2024)
16-2209417-A-C		not specified	Uncertain significance (Jun 25, 2024)
16-2209421-C-T		not specified	Uncertain significance (Feb 02, 2025)
16-2209424-T-C		not specified	Uncertain significance (Mar 16, 2022)
16-2209432-T-G		not specified	Uncertain significance (Dec 20, 2023)
16-2209442-G-A		not specified	Uncertain significance (May 25, 2022)
16-2209447-C-G		not specified	Uncertain significance (Jul 05, 2024)
16-2209451-G-C		not specified	Uncertain significance (Oct 16, 2023)
16-2209454-G-T		not specified	Uncertain significance (Dec 16, 2024)
16-2209555-T-G		not specified	Uncertain significance (Oct 26, 2022)
16-2209565-G-A		not specified	Uncertain significance (Oct 25, 2023)
16-2209585-C-T		not specified	Likely benign (Feb 14, 2023)
16-2209612-C-T		not specified	Uncertain significance (Jan 19, 2024)
16-2209640-T-C		not specified	Uncertain significance (Mar 07, 2025)
16-2209972-C-T		not specified	Likely benign (Jul 14, 2021)
16-2209985-G-A		not specified	Uncertain significance (Aug 02, 2021)
16-2210005-C-T		not specified	Uncertain significance (Oct 07, 2024)
16-2210035-C-T		not specified	Uncertain significance (Jul 31, 2024)
16-2210036-G-A		not specified	Uncertain significance (Sep 14, 2021)
16-2210142-A-G		not specified	Uncertain significance (Nov 07, 2023)
16-2210151-C-G		not specified	Uncertain significance (Feb 15, 2023)
16-2210175-G-T		not specified	Uncertain significance (Oct 11, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BRICD5	protein_coding	protein_coding	ENST00000328540	6	2698

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.15e-17	0.000196	125556	0	155	125711	0.000617

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.93	208	143	1.46	0.00000939	1412
Missense in Polyphen		79	48.965	1.6134		572
Synonymous	-4.01	102	61.9	1.65	0.00000405	483
Loss of Function	-2.17	21	12.7	1.66	7.98e-7	114

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00103	0.00101
Ashkenazi Jewish	0.0000996	0.0000992
East Asian	0.00122	0.00120
Finnish	0.00	0.00
European (Non-Finnish)	0.000640	0.000616
Middle Eastern	0.00122	0.00120
South Asian	0.000922	0.000915
Other	0.00115	0.00114

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.93
• rvis_percentile_EVS: 89.83

Haploinsufficiency Scores

• pHI: 0.0620
• hipred: N
• hipred_score: 0.123
• ghis: 0.461

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Bricd5

Gene ontology

• Cellular component: extracellular space;integral component of membrane
• Molecular function: protein binding