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

• inherited neurodegenerative disorder (Limited), mode of inheritance: AR
• neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities (Moderate), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Craniofacial; Musculoskeletal; Neurologic; Ophthalmologic	38128568

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the BORCS8 gene.

• not_specified (25 variants)
• Neurodegeneration,_infantile-onset,_with_optic_atrophy_and_brain_abnormalities (5 variants)
• not_provided (1 variants)

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. These statistics are base on transcript: NM_001145784.2. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense	2		26			28
nonsense						0
start loss						0
frameshift	1					1
splice donor/acceptor (+/-2bp)						0
Total	3	0	26	1	0

Highest pathogenic variant AF is 7.1517763e-7

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