BORCS7

Summary

BORCS7 (BLOC-1 related complex subunit 7, HGNC:23516) is a protein-coding gene on chromosome 10q24.32, encoding BLOC-1-related complex subunit 7 (Q96B45). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery.

Predicted to be involved in organelle transport along microtubule; regulation of endosome size; and regulation of lysosome size. Predicted to act upstream of or within several processes, including lysosome localization; motor behavior; and response to cycloheximide. Part of BORC complex.

Source: NCBI Gene 119032 — automated summary from GO annotations (Alliance of Genome Resources).

At a glance

• GWAS associations: 25 (top 5% of genes corpus-wide)
• Clinical variants (ClinVar): 17 total
• GTEx eGene: eQTL in 49 tissues, sQTL in 0 (q < 0.05)
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.48 (unconstrained)
• MANE Select transcript: NM_001136200

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:23516
Approved symbol	BORCS7
Name	BLOC-1 related complex subunit 7
Location	10q24.32
Locus type	gene with protein product
Status	Approved
Aliases	FLJ40752
Ensembl gene	ENSG00000166275
Ensembl biotype	protein_coding
OMIM	616600
Entrez	119032

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 6 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

MANE Select: ENST00000339834

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 1

ENST00000339834, ENST00000369883, ENST00000478833, ENST00000878900, ENST00000997733, ENST00001019959, ENST00001119440, ENST00001128035, ENST00001139263

RefSeq mRNA: 2 — MANE Select: NM_001136200 NM_001136200, NM_144591

CCDS: CCDS7542

Canonical transcript exons

ENST00000339834 — 5 exons

Exon	Start	End
ENSE00001432461	102862873	102864961
ENSE00001846473	102854259	102854427
ENSE00003481243	102860332	102860394
ENSE00003549423	102860498	102860541
ENSE00003566433	102862160	102862180

Expression profiles

Bgee: expression breadth ubiquitous, 253 present calls, max score 96.56.

FANTOM5 (CAGE): breadth broad, TPM avg 1.0880 / max 22.1598, expressed in 800 samples.

Highest expression (Bgee): adrenal tissue, ventricle myocardium, kidney epithelium, palpebral conjunctiva, cardiac muscle of right atrium.

Genetic regulation across tissues (GTEx eQTL / sQTL)

BORCS7 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 49 tissues and its splicing (sQTL) in 0 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 49 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Adipose Subcutaneous	eqtl	8.1e-91	-0.69	10:102863296:C:G
Nerve Tibial	eqtl	1.1e-84	-0.59	10:102863296:C:G
Esophagus Mucosa	eqtl	2.7e-84	-0.84	10:102863296:C:G
Artery Tibial	eqtl	2.6e-83	-0.60	10:102863296:C:G
Thyroid	eqtl	1.0e-75	-0.46	10:102863821:C:T
Adipose Visceral Omentum	eqtl	1.1e-71	-0.71	10:102863821:C:T
Skin Sun Exposed Lower leg	eqtl	1.5e-66	-0.43	10:102863296:C:G
Artery Aorta	eqtl	2.3e-58	-0.67	10:102856743:T:C
Cells Cultured fibroblasts	eqtl	4.7e-58	-0.36	10:102863296:C:G
Lung	eqtl	5.1e-58	-0.62	10:102863821:C:T
Skin Not Sun Exposed Suprapubic	eqtl	1.1e-56	-0.43	10:102863821:C:T
Esophagus Muscularis	eqtl	2.8e-54	-0.57	10:102863821:C:T
Breast Mammary Tissue	eqtl	5.8e-53	-0.54	10:102863296:C:G
Heart Atrial Appendage	eqtl	2.5e-52	-0.61	10:102863296:C:G
Colon Transverse	eqtl	2.5e-52	-0.58	10:102856743:T:C
Colon Sigmoid	eqtl	2.5e-39	-0.54	10:102863821:C:T
Brain Caudate basal ganglia	eqtl	2.7e-38	-0.64	10:102856743:T:C
Esophagus Gastroesophageal Junction	eqtl	5.6e-37	-0.60	10:102863821:C:T
Brain Frontal Cortex BA9	eqtl	8.1e-37	-0.71	10:102856743:T:C
Heart Left Ventricle	eqtl	8.8e-37	-0.50	10:102863821:C:T

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
106774	21.0684	1802
106773	1.0880	800

Top tissues by expression

showing 100 of 256 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
adrenal tissue	UBERON:0018303	96.56	gold quality
left ventricle myocardium	UBERON:0006566	96.48	gold quality
kidney epithelium	UBERON:0004819	96.26	gold quality
palpebral conjunctiva	UBERON:0001812	96.19	gold quality
cardiac muscle of right atrium	UBERON:0003379	95.77	gold quality
right adrenal gland	UBERON:0001233	95.65	gold quality
germinal epithelium of ovary	UBERON:0001304	95.59	gold quality
right adrenal gland cortex	UBERON:0035827	95.59	gold quality
bronchial epithelial cell	CL:0002328	95.56	gold quality
left adrenal gland	UBERON:0001234	95.52	gold quality
left adrenal gland cortex	UBERON:0035825	95.43	gold quality
adrenal cortex	UBERON:0001235	95.34	gold quality
parietal pleura	UBERON:0002400	95.25	gold quality
bronchus	UBERON:0002185	95.02	gold quality
adrenal gland	UBERON:0002369	94.98	gold quality
endothelial cell	CL:0000115	94.72	gold quality
tibialis anterior	UBERON:0001385	94.23	gold quality
deltoid	UBERON:0001476	94.16	gold quality
tibia	UBERON:0000979	93.83	gold quality
ileal mucosa	UBERON:0000331	93.72	gold quality
skin of hip	UBERON:0001554	93.11	gold quality
layer of synovial tissue	UBERON:0007616	93.11	gold quality
visceral pleura	UBERON:0002401	93.10	gold quality
upper arm skin	UBERON:0004263	93.05	gold quality
quadriceps femoris	UBERON:0001377	92.99	gold quality
myocardium	UBERON:0002349	92.88	gold quality
vastus lateralis	UBERON:0001379	92.73	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	92.72	gold quality
superficial temporal artery	UBERON:0001614	92.43	gold quality
right lobe of liver	UBERON:0001114	92.29	gold quality
liver	UBERON:0002107	92.19	gold quality
caput epididymis	UBERON:0004358	92.16	gold quality
thyroid gland	UBERON:0002046	92.07	gold quality
left lobe of thyroid gland	UBERON:0001120	91.97	gold quality
seminal vesicle	UBERON:0000998	91.77	gold quality
upper leg skin	UBERON:0004262	91.66	gold quality
metanephros	UBERON:0000081	91.64	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	91.63	gold quality
nucleus accumbens	UBERON:0001882	91.61	gold quality
monocyte	CL:0000576	91.56	gold quality
decidua	UBERON:0002450	91.53	gold quality
adult organism	UBERON:0007023	91.52	gold quality
corpus epididymis	UBERON:0004359	91.39	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.30	gold quality
leukocyte	CL:0000738	91.22	gold quality
adult mammalian kidney	UBERON:0000082	91.18	gold quality
mucosa of paranasal sinus	UBERON:0005030	91.17	gold quality
nasal cavity mucosa	UBERON:0001826	91.12	gold quality
placenta	UBERON:0001987	91.07	gold quality
kidney	UBERON:0002113	90.87	gold quality
thoracic mammary gland	UBERON:0005200	90.87	gold quality
cartilage tissue	UBERON:0002418	90.82	gold quality
muscle tissue	UBERON:0002385	90.80	gold quality
epithelial cell of pancreas	CL:0000083	90.78	gold quality
prefrontal cortex	UBERON:0000451	90.77	gold quality
biceps brachii	UBERON:0001507	90.75	gold quality
mammary gland	UBERON:0001911	90.75	gold quality
jejunal mucosa	UBERON:0000399	90.66	gold quality
right lobe of thyroid gland	UBERON:0001119	90.56	gold quality
caudate nucleus	UBERON:0001873	90.56	gold quality
pigmented layer of retina	UBERON:0001782	90.47	gold quality
amygdala	UBERON:0001876	90.44	gold quality
jejunum	UBERON:0002115	90.41	gold quality
hypothalamus	UBERON:0001898	90.37	gold quality
skeletal muscle tissue	UBERON:0001134	90.34	gold quality
endometrium	UBERON:0001295	90.33	gold quality
Brodmann (1909) area 46	UBERON:0006483	90.25	gold quality
adenohypophysis	UBERON:0002196	90.22	gold quality
gall bladder	UBERON:0002110	90.18	gold quality
anterior cingulate cortex	UBERON:0009835	90.10	gold quality
adipose tissue	UBERON:0001013	90.03	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	90.02	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	90.02	gold quality
duodenum	UBERON:0002114	90.00	gold quality
Ammon’s horn	UBERON:0001954	89.96	gold quality
spinal cord	UBERON:0002240	89.95	gold quality
Brodmann (1909) area 9	UBERON:0013540	89.95	gold quality
pituitary gland	UBERON:0000007	89.89	gold quality
hindlimb stylopod muscle	UBERON:0004252	89.78	gold quality
superior frontal gyrus	UBERON:0002661	89.76	gold quality
endocervix	UBERON:0000458	89.75	gold quality
forebrain	UBERON:0001890	89.71	gold quality
fallopian tube	UBERON:0003889	89.66	gold quality
muscle of leg	UBERON:0001383	89.60	gold quality
temporal lobe	UBERON:0001871	89.56	gold quality
cerebral cortex	UBERON:0000956	89.54	gold quality
Brodmann (1909) area 23	UBERON:0013554	89.54	gold quality
postcentral gyrus	UBERON:0002581	89.52	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	89.50	gold quality
gastrocnemius	UBERON:0001388	89.49	gold quality
ventricular zone	UBERON:0003053	89.39	gold quality
islet of Langerhans	UBERON:0000006	89.36	gold quality
neocortex	UBERON:0001950	89.36	gold quality
calcaneal tendon	UBERON:0003701	89.36	gold quality
putamen	UBERON:0001874	89.31	gold quality
epithelium of mammary gland	UBERON:0003244	89.31	gold quality
frontal cortex	UBERON:0001870	89.30	gold quality
substantia nigra	UBERON:0002038	89.30	gold quality
right uterine tube	UBERON:0001302	89.28	gold quality
mammary duct	UBERON:0001765	89.27	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-CURD-88	yes	19.36
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Liver	tissue	62.7	medium
Adrenal gland	tissue	54.4	high
Thyroid gland	tissue	51.8	high
Parathyroid gland	tissue	50.1	medium
Putamen	tissue	39.9
Kidney	tissue	37.1	medium
Cerebral cortex	tissue	36.9	medium
Somatosensory cortex	tissue	36.9
Motor cortex	tissue	35.8
Hippocampal formation	tissue	35.8
Entorhinal cortex	tissue	35.8
Occipital cortex	tissue	35.2
Ventral forebrain	tissue	34.9
Retrosplenial and cingulate cortex	tissue	34.5
Amygdala	tissue	33.8
Retrosplenial cortex	tissue	33.8
Septum	tissue	33.3
Olfactory bulb	tissue	33.2
Prefrontal cortex	tissue	33.1
Basal ganglia	tissue	33.1	medium
Temporal cortex	tissue	32.8
Insular cortex	tissue	32.7
Midbrain	tissue	32.5
Spinal cord	tissue	32.3
Thalamus	tissue	32.2
Corpus callosum	tissue	31.5
Pons	tissue	30.1
Substantia nigra	tissue	29.9
Hypothalamus	tissue	29.6
Medulla oblongata	tissue	29.4
Superior colliculi	tissue	28.1
Breast	tissue	27.9	high
Fallopian tube	tissue	27.9	high
Periaqueductal gray	tissue	27.4
Cerebellum	tissue	27.2	medium
Ovary	tissue	25.7	low
Prostate	tissue	25.5	medium
Skeletal muscle	tissue	24.8	low
Tongue	tissue	24.1
Adipose tissue	tissue	23.8	high
Spleen	tissue	23.0	medium
Epididymis	tissue	22.4	high
Lung	tissue	22.4	high
Pituitary gland	tissue	22.1
Bone marrow	tissue	22.0	low
Duodenum	tissue	21.8	medium
Gallbladder	tissue	21.0	medium
Heart muscle	tissue	20.7	medium
Endometrium 1	tissue	20.4	medium
Placenta	tissue	20.4	medium
Cervix	tissue	19.7	medium
Stomach 1	tissue	19.7	medium
Testis	tissue	18.9	medium
Retina	tissue	18.7
Choroid plexus	tissue	18.5
Small intestine	tissue	18.3	high
Frontal cortex	tissue	18.2
Pancreas	tissue	16.5	medium
Seminal vesicle	tissue	16.4	medium
Colon	tissue	16.1	medium

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Dorsal hippocampus (35.6), Subiculum (34.2), Ventral hippocampus (34.1), Ventral spinal cord (32.3), White matter (31.5).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting BORCS7 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 63 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-6833-3P	100.00	70.63	3197
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-539-5P	99.93	70.30	2855
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-219A-5P	99.91	73.36	735
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-3671	99.90	73.04	3897
HSA-MIR-4782-3P	99.88	73.31	735
HSA-MIR-6766-3P	99.88	73.38	732
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-4719	99.73	72.10	3329
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-4729	99.69	72.18	4233

Functional genomics

gnomAD constraint: pLI 0.000525, LOEUF 1.48, missense Z -0.126 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000339834 — one region, missense o/e 0.94.

Literature-anchored findings (GeneRIF, showing 5)

• this study implicates altered neural expression of BORCS7, AS3MT, and NT5C2 in susceptibility to schizophrenia arising from genetic variation at the chromosome 10q24 locus (PMID:27004590)
• Risk alleles spanning multiple genes across the 10q24.32 schizophrenia-related locus are associated in the human brain selectively with an increase in the expression of both BLOC-1 related complex subunit 7 (BORCS7) and a previously uncharacterized, human-specific arsenite methyltransferase (AS3MT) isoform (AS3MTd2d3). (PMID:27158905)
• Sngle nucleotide polymorphism in c10orf32 gene is associated with skin lesions. (PMID:27692299)
• effect of a genetic variant at the schizophrenia associated AS3MT/BORCS7 locus on striatal dopamine function: a PET imaging study (PMID:31386983)
• BORC complex specific components and Kinesin-1 mediate autophagy evasion by the autophagy-resistant Mycobacterium tuberculosis Beijing strain. (PMID:36717601)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	borcs7	ENSDARG00000055070
mus_musculus	Borcs7	ENSMUSG00000062376
rattus_norvegicus	Borcs7	ENSRNOG00000073762
drosophila_melanogaster	BORCS7	FBGN0034519
caenorhabditis_elegans		WBGENE00010981

Mouse-model phenotypes

Observed phenotypes of the mouse ortholog (MGI:1913689) from MGI (Alliance of Genome Resources) — knockout/mutant phenotypes, ranked by annotation count. 19 distinct phenotype terms.

Mouse phenotype (MP)	Records
tremors	1
abnormal retina morphology	1
ataxia	1
hyperactivity	1
impaired coordination	1
abnormal gait	1
abnormal spatial learning	1
decreased startle reflex	1
limb grasping	1
reduced male fertility	1
decreased vertical activity	1
abnormal retina vasculature morphology	1
axonal dystrophy	1
abnormal axonal transport	1
abnormal lysosome morphology	1
decreased grip strength	1
abnormal retina blood vessel morphology	1
neonatal lethality, complete penetrance	1
preweaning lethality, complete penetrance	1

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Pongo abelii	Q5REK7	98.1%	Diamond
Bos taurus	Q2KIB7	97.1%	Diamond
Xenopus tropicalis	Q28DH3	88.3%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
BORCS7-ASMT	ncRNA	100528007
NT5C2	protein-coding	22978
CNNM2	protein-coding	54805
AS3MT	protein-coding	57412
CYP17A1-AS1	ncRNA	102724307
CYP17A1	protein-coding	1586
WBP1L	protein-coding	54838

Protein

Protein identifiers

BLOC-1-related complex subunit 7 — Q96B45 (reviewed: Q96B45)

Alternative names: Diaskedin

All UniProt accessions (1): Q96B45

UniProt curated annotations — full annotation on UniProt →

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.

Subunit / interactions. Component of the BLOC-one-related complex (BORC) which is composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN.

Subcellular location. Lysosome membrane.

Miscellaneous. Diaskedin is from the ancient Greek diaskedazo, meaning to disperse.

Similarity. Belongs to the BORCS7 family.

RefSeq proteins (2): NP_001129672, NP_653192 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR032143	BORCS7	Family

Pfam: PF16088

UniProt features (1 total): chain 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96B45-F1	94.84	0.90

Human Protein Atlas

Protein class: Predicted intracellular proteins, UniProt - Inferred from homology

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol; vesicles

Antibody reliability (HPA): IH approved · IF approved

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 146 (showing top): GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_BEHAVIOR, GOCC_VACUOLAR_MEMBRANE, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_NEUROGENESIS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE, MILI_PSEUDOPODIA_HAPTOTAXIS_UP, GOBP_RESPONSE_TO_KETONE, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, LASTOWSKA_NEUROBLASTOMA_COPY_NUMBER_DN, GOBP_CELL_PROJECTION_ORGANIZATION

GO Biological Process (4): lysosome localization (GO:0032418), regulation of endosome size (GO:0051036), regulation of lysosome size (GO:0062196), organelle transport along microtubule (GO:0072384)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): cytoplasmic side of lysosomal membrane (GO:0098574), BORC complex (GO:0099078), lysosome (GO:0005764), lysosomal membrane (GO:0005765)

GO top-level categories

12 GO namespaces:

Category	Terms
vacuolar localization	1
regulation of vesicle size	1
regulation of cellular component size	1
transport along microtubule	1
establishment of organelle localization	1
binding	1
lysosomal membrane	1
cytoplasmic side of membrane	1
intracellular protein-containing complex	1
lytic vacuole	1
lysosome	1
lytic vacuole membrane	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 9 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO term	NS	Evidence
BORC complex	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 494 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BORCS7	BORCS5	Q969J3	772
BORCS7	BORCS6	Q96GS4	759
BORCS7	BORCS8	Q96FH0	757
BORCS7	KXD1	Q9BQD3	756
BORCS7	AS3MT	Q9HBK9	722
BORCS7	SNAPIN	O95295	678
BORCS7	BLOC1S1	P78537	678
BORCS7	BLOC1S2	Q6QNY1	675
BORCS7	NT5C2	P49902	611
BORCS7	ARL8B	Q9NVJ2	601
BORCS7	ARL5B	Q96KC2	592
BORCS7	CNNM2	Q9H8M5	591
BORCS7	ARL8A	Q96BM9	573
BORCS7	SLC68A1	Q14CX5	571
BORCS7	WBP1L	Q9NX94	518

IntAct

Human interaction partners of BORCS7 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

2 partners by confidence:

Partner	Interaction type	MIscore	Records
WLS	physical association	0.490	2
SNAPIN	association	0.350	2

Protein complexes (CORUM) (1)

Experimentally-characterized complexes this protein is a subunit of (★ = the complex contains a known drug target).

1 complexes by size:

Complex	Subunits	Members
BORC complex	8	BORCS5, BORCS6, BORCS7, BORCS8, KXD1, SNAPIN, BLOC1S1, BLOC1S2

Disease & clinical

Genetic variants

Variant evidence for BORCS7: 17 ClinVar records (0 pathogenic / likely pathogenic); 25 GWAS associations.

ClinVar

17 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	16
Likely benign	1
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 35 predictions of 335):

Position(s)	Effect	Δscore	Sites
10:102854428–102854429	donor_loss	1.0000	5
10:102854466	donor_gain	1.0000
10:102860330–102860331	acceptor_loss	1.0000	6
10:102860395–102860396	donor_loss	1.0000	4
10:102860322	acceptor_gain	0.9900
10:102860493	acceptor_gain	0.9900
10:102860496–102860497	acceptor_loss	0.9900	6
10:102862152	acceptor_gain	0.9900
10:102860542–102860543	donor_loss	0.9800	5
10:102862158–102862159	acceptor_loss	0.9800	5

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

4 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	3.18e-10
Kidney Renal Clear Cell Carcinoma (validation)	favorable	5.21e-05
Liver Hepatocellular Carcinoma (TCGA)	favorable	0.000158
Ovary Serous Cystadenocarcinoma (validation)	unfavorable	0.000724

Disease associations

OMIM: gene MIM:616600 | disease phenotypes:

GWAS associations

25 associations:

Study	Trait	p-value
GCST004946_51	Schizophrenia	4e-20
GCST002539_77	Schizophrenia	6e-19
GCST006803_98	Schizophrenia	7e-18
GCST004946_67	Schizophrenia	4e-17
GCST004521_217	Autism spectrum disorder or schizophrenia	1e-16
GCST009600_119	Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy)	3e-16
GCST90002403_415	Red blood cell count	5e-16
GCST004521_123	Autism spectrum disorder or schizophrenia	4e-14
GCST007603_17	Smoking initiation	2e-13
GCST002149_2	Schizophrenia	4e-13
GCST010703_273	Brain morphology (MOSTest)	5e-13
GCST004259_3	Mean arterial pressure (long-term average)	1e-11
GCST006231_9	Mean arterial pressure	2e-11
GCST007705_21	Pulse pressure	2e-11
GCST004904_215	Body mass index	5e-11
GCST007707_25	Hypertension	4e-10
GCST001942_1	Prostate cancer	5e-10
GCST009703_5	Arsenic metabolism	2e-9
GCST001421_1	Arsenic metabolism	3e-9
GCST004258_2	Diastolic blood pressure (long-term average)	8e-9
GCST000528_8	Parkinson’s disease	7e-8
GCST005958_7	Waist-to-hip ratio adjusted for BMI (age >50)	4e-6
GCST012354_11	Anxiety	4e-6
GCST003253_11	Microalbuminuria	6e-6
GCST005956_7	Waist-to-hip ratio adjusted for BMI	8e-6

EFO canonical traits (from GWAS)

10 canonical traits:

EFO ID	Trait name
EFO:0004880	urinary arsenic measurement
EFO:0006336	diastolic blood pressure
EFO:0006340	mean arterial pressure
EFO:0004340	body mass index
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0005670	smoking initiation
EFO:0005763	pulse pressure measurement
EFO:0004346	neuroimaging measurement
EFO:0009863	anxiety measurement
EFO:0004305	erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

26 total (human), top 26 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Arsenic	affects methylation, decreases metabolic processing	2
Valproic Acid	affects expression, decreases expression	2
Cadmium Chloride	increases expression	2
GSK-J4	decreases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	affects expression	1
Sunitinib	decreases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1
Caffeine	decreases phosphorylation	1
Demecolcine	increases expression	1
Doxorubicin	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Methyl Methanesulfonate	increases expression	1
Quercetin	increases expression	1
Smoke	decreases expression	1
Tretinoin	increases expression	1
Urethane	decreases expression	1
Vincristine	increases expression	1
Cyclosporine	decreases expression	1
Sodium Selenite	increases expression	1
Copper Sulfate	decreases expression	1
Particulate Matter	decreases expression, increases abundance	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_SF96	HAP1 C10orf32 (-) 1	Cancer cell line	Male
CVCL_SF97	HAP1 C10orf32 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.