BORCS8

BLOC-1 related complex subunit 8, the group of BLOC-1 related complex subunits

Basic information

Region (hg38): 19:19176903-19192591

Previous symbols: [ "MEF2BNB" ]

Links

ENSG00000254901 ∙ NCBI:729991 ∙ OMIM:616601 ∙ HGNC:37247 ∙ Uniprot:Q96FH0 ∙ 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 BORCS8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the BORCS8 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			16			16
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2	4		6
Total	0	0	18	4	0

Variants in BORCS8

This is a list of pathogenic ClinVar variants found in the BORCS8 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-19182579-C-A		not specified	Uncertain significance (Jan 19, 2024)
19-19182607-G-A		not specified	Uncertain significance (Oct 12, 2022)
19-19182640-C-T		not specified	Uncertain significance (May 17, 2023)
19-19182645-C-A		not specified	Uncertain significance (Dec 19, 2023)
19-19182645-C-T		not specified	Uncertain significance (Apr 04, 2023)
19-19182655-C-T		not specified	Uncertain significance (Dec 14, 2022)
19-19182679-C-T		not specified	Uncertain significance (Jun 29, 2022)
19-19186086-G-A		not specified	Uncertain significance (Mar 01, 2024)
19-19186092-T-C		not specified	Uncertain significance (Jul 12, 2023)
19-19186924-C-T		not specified	Uncertain significance (Sep 17, 2021)
19-19186955-C-T		not specified	Uncertain significance (Jun 18, 2021)
19-19186958-A-G		not specified • NEURODEGENERATION, INFANTILE-ONSET, WITH OPTIC ATROPHY AND BRAIN ABNORMALITIES	Uncertain significance (Jun 30, 2022)
19-19186964-C-T		not specified	Uncertain significance (Apr 13, 2022)
19-19186969-G-C		not specified	Uncertain significance (Aug 08, 2022)
19-19186984-C-T		not specified	Uncertain significance (Jun 14, 2023)
19-19192107-G-A		not specified	Uncertain significance (Jan 20, 2023)
19-19192209-C-G		MHC class II deficiency	Uncertain significance (Jun 14, 2016)
19-19192338-C-A		MHC class II deficiency	Likely benign (Jun 14, 2016)
19-19192376-G-A		MHC class II deficiency	Likely benign (Jun 14, 2016)
19-19192406-C-T		MHC class II deficiency	Uncertain significance (Jan 13, 2018)
19-19192464-A-T		MHC class II deficiency	Likely benign (Jun 14, 2016)
19-19192475-C-T		MHC class II deficiency	Likely benign (Jun 14, 2016)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
BORCS8	protein_coding	protein_coding	ENST00000462790	5	15689

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000258	0.555	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.914	51	73.0	0.699	0.00000472	768
Missense in Polyphen		10	20.521	0.4873		216
Synonymous	0.530	27	30.7	0.878	0.00000220	219
Loss of Function	0.503	6	7.48	0.802	3.19e-7	91

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:0000305|PubMed:25898167}.

Intolerance Scores

• rvis_EVS: 0.15
• rvis_percentile_EVS: 63.81

Haploinsufficiency Scores

• ghis: 0.528

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Borcs8

Gene ontology

• Biological process: heart development
• Cellular component: lysosomal membrane;BORC complex
• Molecular function: protein binding