BORCS7

BLOC-1 related complex subunit 7, the group of BLOC-1 related complex subunits

Basic information

Region (hg38): 10:102854258-102864961

Previous symbols: [ "C10orf32" ]

Links

ENSG00000166275 ∙ NCBI:119032 ∙ OMIM:616600 ∙ HGNC:23516 ∙ Uniprot:Q96B45 ∙ 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 BORCS7 gene.

• Inborn genetic diseases (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BORCS7 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			1	1		2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	1	1	0

Variants in BORCS7

This is a list of pathogenic ClinVar variants found in the BORCS7 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-102854363-C-A		not specified	Likely benign (May 18, 2022)
10-102862887-C-T		not specified	Uncertain significance (Oct 17, 2023)
10-102862895-C-G		not specified	Uncertain significance (Dec 16, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BORCS7	protein_coding	protein_coding	ENST00000339834	5	10739

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.29e-7	0.0850	125736	0	11	125747	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0875	52	53.8	0.966	0.00000246	669
Missense in Polyphen		9	11.738	0.76676		162
Synonymous	-0.473	24	21.2	1.13	0.00000103	202
Loss of Function	-0.722	9	6.95	1.30	3.60e-7	77

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000597	0.0000597
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000466	0.0000439
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000710	0.0000653
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery. Associated with the cytosolic face of lysosomes, the BORC complex may recruit ARL8B and couple lysosomes to microtubule plus-end-directed kinesin motor. {ECO:0000305|PubMed:25898167}.

Intolerance Scores

• rvis_EVS: -0.16
• rvis_percentile_EVS: 41.25

Haploinsufficiency Scores

• pHI: 0.175
• hipred: N
• hipred_score: 0.146
• ghis: 0.595

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Borcs7

Gene ontology

• Cellular component: lysosomal membrane;BORC complex
• Molecular function: protein binding