BORCS6

BLOC-1 related complex subunit 6, the group of BLOC-1 related complex subunits

Basic information

Region (hg38): 17:8188344-8190180

Previous symbols: [ "C17orf59" ]

Links

ENSG00000196544 ∙ NCBI:54785 ∙ OMIM:616599 ∙ HGNC:25939 ∙ Uniprot:Q96GS4 ∙ 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 BORCS6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BORCS6 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			18	2		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	2	0

Variants in BORCS6

This is a list of pathogenic ClinVar variants found in the BORCS6 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-8189126-C-A		not specified	Uncertain significance (Feb 10, 2023)
17-8189160-C-A		not specified	Uncertain significance (May 20, 2024)
17-8189252-T-C		not specified	Uncertain significance (May 18, 2023)
17-8189375-T-C		not specified	Uncertain significance (Feb 03, 2022)
17-8189375-T-G		not specified	Uncertain significance (Mar 24, 2023)
17-8189377-G-T		not specified	Uncertain significance (Jan 08, 2024)
17-8189381-G-C		not specified	Uncertain significance (Apr 08, 2024)
17-8189410-G-C		not specified	Uncertain significance (Sep 17, 2021)
17-8189668-G-A		not specified	Uncertain significance (Oct 18, 2021)
17-8189697-C-A		not specified	Uncertain significance (Mar 28, 2024)
17-8189709-G-C		not specified	Uncertain significance (Feb 03, 2022)
17-8189711-C-T		not specified	Uncertain significance (Apr 21, 2022)
17-8189738-T-C		not specified	Uncertain significance (Mar 02, 2023)
17-8189756-C-T		not specified	Uncertain significance (May 31, 2022)
17-8189797-G-A		not specified	Uncertain significance (Mar 25, 2024)
17-8189800-G-T		not specified	Likely benign (Jan 08, 2024)
17-8189815-C-G		Fraser syndrome 3	Uncertain significance (-)
17-8189816-G-A		not specified	Uncertain significance (Sep 17, 2021)
17-8189832-T-G		not specified	Likely benign (Jan 06, 2023)
17-8189839-T-A		not specified	Uncertain significance (Jun 11, 2024)
17-8189898-C-A		not specified	Uncertain significance (Dec 02, 2021)
17-8189991-G-C		not specified	Uncertain significance (Sep 01, 2021)
17-8190011-C-A		not specified	Uncertain significance (Jan 09, 2024)
17-8190019-C-T		not specified	Uncertain significance (Jan 31, 2024)
17-8190080-G-C		not specified	Uncertain significance (Mar 07, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BORCS6	protein_coding	protein_coding	ENST00000389017	1	1913

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.201	0.759	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.903	172	209	0.824	0.0000102	2195
Missense in Polyphen		57	87.304	0.65289		903
Synonymous	0.884	87	98.1	0.887	0.00000467	839
Loss of Function	1.71	2	6.81	0.294	2.99e-7	74

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	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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:0000269|PubMed:25898167}.

Recessive Scores

• pRec: 0.109

Haploinsufficiency Scores

• pHI: 0.382
• ghis: 0.630

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Borcs6

Gene ontology

• Biological process: lysosome localization
• Cellular component: lysosomal membrane;BORC complex
• Molecular function: protein binding