BORCS5

Summary

BORCS5 (BLOC-1 related complex subunit 5, HGNC:17950) is a protein-coding gene on chromosome 12p13.2, encoding BLOC-1-related complex subunit 5 (Q969J3). As part of the BORC complex may play a role in lysosomes movement and localization at the cell periphery.

Involved in lysosome localization and organelle transport along microtubule. Located in cytoplasmic side of lysosomal membrane; plasma membrane; and plus-end kinesin complex. Part of BORC complex. Implicated in colorectal adenocarcinoma.

Source: NCBI Gene 118426 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Limited, GenCC)
• GWAS associations: 16
• Clinical variants (ClinVar): 42 total — 1 likely-pathogenic
• Phenotypes (HPO): 1
• MANE Select transcript: NM_058169

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17950
Approved symbol	BORCS5
Name	BLOC-1 related complex subunit 5
Location	12p13.2
Locus type	gene with protein product
Status	Approved
Aliases	LOH1CR12
Ensembl gene	ENSG00000165714
Ensembl biotype	protein_coding
OMIM	616598
Entrez	118426

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 6 protein_coding, 1 retained_intron

ENST00000298571, ENST00000314565, ENST00000542728, ENST00000543990, ENST00000866053, ENST00000922067, ENST00000922068

RefSeq mRNA: 3 — MANE Select: NM_058169 NM_001300742, NM_001330356, NM_058169

CCDS: CCDS73448, CCDS81669, CCDS8649

Canonical transcript exons

ENST00000314565 — 4 exons

Exon	Start	End
ENSE00001095791	12435628	12435785
ENSE00001350805	12357078	12357509
ENSE00001385508	12465546	12471233
ENSE00003588754	12361206	12361349

Expression profiles

Bgee: expression breadth ubiquitous, 139 present calls, max score 86.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.9210 / max 177.7298, expressed in 1810 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
124295	6.1854	1745
124296	4.0866	1547
124297	3.5222	1049
124299	1.5312	537
124300	1.0732	327
124298	0.4277	118
124301	0.0946	34

Top tissues by expression

139 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
sural nerve	UBERON:0015488	86.54	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.45	gold quality
prefrontal cortex	UBERON:0000451	85.45	gold quality
blood	UBERON:0000178	83.54	gold quality
frontal cortex	UBERON:0001870	82.91	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	82.22	gold quality
bone marrow	UBERON:0002371	81.64	gold quality
substantia nigra	UBERON:0002038	81.35	gold quality
superior frontal gyrus	UBERON:0002661	81.33	gold quality
ascending aorta	UBERON:0001496	81.30	gold quality
thoracic aorta	UBERON:0001515	81.12	gold quality
lower esophagus mucosa	UBERON:0035834	80.91	gold quality
cerebral cortex	UBERON:0000956	80.71	gold quality
mucosa of transverse colon	UBERON:0004991	80.54	gold quality
descending thoracic aorta	UBERON:0002345	80.31	gold quality
popliteal artery	UBERON:0002250	80.19	gold quality
tibial artery	UBERON:0007610	80.17	gold quality
putamen	UBERON:0001874	80.16	gold quality
hypothalamus	UBERON:0001898	80.10	gold quality
islet of Langerhans	UBERON:0000006	80.04	gold quality
nucleus accumbens	UBERON:0001882	79.94	gold quality
granulocyte	CL:0000094	79.82	gold quality
bone marrow cell	CL:0002092	79.80	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	79.62	gold quality
gastrocnemius	UBERON:0001388	79.60	gold quality
left adrenal gland cortex	UBERON:0035825	79.59	gold quality
skeletal muscle tissue	UBERON:0001134	79.58	gold quality
stromal cell of endometrium	CL:0002255	79.49	gold quality
right adrenal gland	UBERON:0001233	79.48	gold quality
anterior cingulate cortex	UBERON:0009835	79.41	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.29

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

47 targeting BORCS5, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-6124	99.87	69.78	3551
HSA-MIR-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981
HSA-MIR-4502	99.65	66.99	1021
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-17-3P	99.55	66.77	1311
HSA-MIR-5571-5P	99.49	66.99	1764
HSA-MIR-4506	99.34	67.47	526
HSA-MIR-888-5P	99.30	70.15	1855
HSA-MIR-4291	99.20	68.88	2969
HSA-MIR-6830-5P	99.01	68.73	1884
HSA-MIR-873-5P	98.84	66.90	1348
HSA-MIR-2115-5P	98.66	68.07	1191
HSA-MIR-5094	98.63	67.11	1062
HSA-MIR-7114-5P	98.51	67.87	1349
HSA-MIR-619-3P	98.38	65.58	693
HSA-MIR-3187-5P	98.36	65.74	1776
HSA-MIR-561-5P	98.25	68.13	1365
HSA-MIR-1245B-3P	98.01	68.91	1387
HSA-MIR-3132	97.96	67.91	711
HSA-MIR-1285-3P	97.72	67.02	1932

Literature-anchored findings (GeneRIF, showing 3)

• The present results suggest that LOH12CR1 might function as a tumor suppressor. Thus, loss of function of LOH12CR1 might be a potential driver in the development of colorectal carcinoma. (PMID:29879888)
• our results suggest that LMO3-BORCS5 fusion oncogene plays an essential role in tumorigenesis (PMID:31488873)
• 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	borcs5	ENSDARG00000077830
mus_musculus	Borcs5	ENSMUSG00000042992
rattus_norvegicus	Borcs5	ENSRNOG00000006505
drosophila_melanogaster	BORCS5	FBGN0030346
caenorhabditis_elegans		WBGENE00019126

Protein

Protein identifiers

BLOC-1-related complex subunit 5 — Q969J3 (reviewed: Q969J3)

Alternative names: Loss of heterozygosity 12 chromosomal region 1, Myristoylated lysosomal protein

All UniProt accessions (2): Q969J3, G3V1P3

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. Thereby, it may indirectly play a role in cell spreading and motility.

Subunit / interactions. Component of the BLOC-one-related complex (BORC) which is composed of BLOC1S1, BLOC1S2, BORCS5, BORCS6, BORCS7, BORCS8, KXD1 and SNAPIN. Interacts with ARL8B, KIF5A, KLC1 and PLEKHM2; links the lysosomal BORC complex to the microtubule plus-end-directed kinesin motor.

Subcellular location. Lysosome membrane.

Tissue specificity. Ubiquitously expressed (at protein level).

Post-translational modifications. Myristoylation at Gly-2 mediates attachment to lysosome membranes.

Similarity. Belongs to the BORCS5 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q969J3-1	1	yes
Q969J3-2	2

RefSeq proteins (3): NP_001287671, NP_001317285, NP_477517* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018780	TBORCS5	Family

Pfam: PF10158

UniProt features (11 total): modified residue 2, sequence variant 2, initiator methionine 1, chain 1, mutagenesis site 1, region of interest 1, compositionally biased region 1, lipid moiety-binding region 1, splice variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q969J3-F1	80.54	0.51

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 71, 75, 2

Mutagenesis-validated functional residues (1):

Position	Phenotype
2	loss of myristoylation and loss of localization to lysosomal membranes.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 127 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GOBP_SYNAPTIC_VESICLE_LOCALIZATION, GOBP_AXO_DENDRITIC_TRANSPORT, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_VESICLE_LOCALIZATION, GOCC_VACUOLAR_MEMBRANE, GOBP_SYNAPTIC_VESICLE_CYTOSKELETAL_TRANSPORT, GOCC_KINESIN_COMPLEX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_NEUROGENESIS, AP2_Q3, GOBP_ORGANELLE_TRANSPORT_ALONG_MICROTUBULE, CAGCTG_AP4_Q5, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_TRANSPORT, GOBP_REGULATION_OF_ANATOMICAL_STRUCTURE_SIZE

GO Biological Process (6): nervous system development (GO:0007399), lysosome localization (GO:0032418), regulation of endosome size (GO:0051036), regulation of lysosome size (GO:0062196), organelle transport along microtubule (GO:0072384), positive regulation of anterograde synaptic vesicle transport (GO:1903744)

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

GO Cellular Component (9): plasma membrane (GO:0005886), membrane (GO:0016020), axon (GO:0030424), synaptic vesicle membrane (GO:0030672), cytoplasmic side of lysosomal membrane (GO:0098574), BORC complex (GO:0099078), lysosome (GO:0005764), lysosomal membrane (GO:0005765), plus-end kinesin complex (GO:0005873)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
system development	1
vacuolar localization	1
regulation of vesicle size	1
regulation of cellular component size	1
transport along microtubule	1
establishment of organelle localization	1
anterograde synaptic vesicle transport	1
positive regulation of vesicle transport along microtubule	1
positive regulation of synaptic vesicle transport	1
regulation of anterograde synaptic vesicle transport	1
binding	1
membrane	1
cell periphery	1
cellular anatomical structure	1
neuron projection	1
synaptic vesicle	1
exocytic vesicle membrane	1
lysosomal membrane	1
cytoplasmic side of membrane	1
intracellular protein-containing complex	1
lytic vacuole	1
lysosome	1
lytic vacuole membrane	1
kinesin complex	1

Protein interactions and networks

STRING

454 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BORCS5	BORCS6	Q96GS4	993
BORCS5	BORCS7	Q96B45	990
BORCS5	KXD1	Q9BQD3	990
BORCS5	BLOC1S2	Q6QNY1	986
BORCS5	BORCS8	Q96FH0	986
BORCS5	BLOC1S1	P78537	985
BORCS5	SNAPIN	O95295	983
BORCS5	ARL8B	Q9NVJ2	655
BORCS5	ARL5B	Q96KC2	597
BORCS5	ARL8A	Q96BM9	571
BORCS5	DUSP16	Q9BY84	479
BORCS5	MANSC1	Q9H8J5	447
BORCS5	LAMTOR4	Q0VGL1	445
BORCS5	CREBL2	O60519	425
BORCS5	PCMT1	P22061	425

IntAct

71 interactions, top by confidence:

A	B	Type	Score
LAMTOR4	LAMTOR5	psi-mi:“MI:0914”(association)	0.960
LAMTOR1	LAMTOR5	psi-mi:“MI:0914”(association)	0.870
BLOC1S1	SNAPIN	psi-mi:“MI:0914”(association)	0.810
YWHAB	PIK3C2A	psi-mi:“MI:0914”(association)	0.800
LAMTOR3	LAMTOR5	psi-mi:“MI:0914”(association)	0.730
BORCS5	PUF60	psi-mi:“MI:0915”(physical association)	0.670
IKBIP	SNAPIN	psi-mi:“MI:0914”(association)	0.670
FAM9C	NDC80	psi-mi:“MI:0914”(association)	0.670
PUF60	BORCS5	psi-mi:“MI:0915”(physical association)	0.670
YWHAG	BLTP3B	psi-mi:“MI:0914”(association)	0.640
YWHAE	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
YWHAH	BLTP3B	psi-mi:“MI:0914”(association)	0.570
YWHAZ	PIK3C2A	psi-mi:“MI:0914”(association)	0.570
CCDC196	BORCS5	psi-mi:“MI:0915”(physical association)	0.560
KLF11	BORCS5	psi-mi:“MI:0915”(physical association)	0.560
YWHAG	SHTN1	psi-mi:“MI:0914”(association)	0.560
TRIML2	SRGAP2	psi-mi:“MI:0914”(association)	0.530
BORCS6	HSBP1	psi-mi:“MI:0914”(association)	0.530
KXD1	HIP1	psi-mi:“MI:0914”(association)	0.530
STX11	EXOC5	psi-mi:“MI:0914”(association)	0.530
KXD1	TRAK2	psi-mi:“MI:0914”(association)	0.530
BORCS8	SNAPIN	psi-mi:“MI:0914”(association)	0.530
FGL1	DNM1L	psi-mi:“MI:0914”(association)	0.350

BioGRID (63): LOH12CR1 (Two-hybrid), LOH12CR1 (Affinity Capture-MS), LOH12CR1 (Affinity Capture-MS), LOH12CR1 (Affinity Capture-MS), LOH12CR1 (Affinity Capture-MS), LOH12CR1 (Two-hybrid), LOH12CR1 (Affinity Capture-MS), LOH12CR1 (Affinity Capture-MS), LOH12CR1 (Affinity Capture-MS), LOH12CR1 (Affinity Capture-MS), LOH12CR1 (Affinity Capture-MS), LOH12CR1 (Affinity Capture-MS), LOH12CR1 (Affinity Capture-MS), LOH12CR1 (Proximity Label-MS), LOH12CR1 (Proximity Label-MS)

ESM2 similar proteins: A0A098DRQ4, A1A4L0, A1CAN8, A1DF15, A1L1C7, A6RJQ7, A7E559, A7KAL4, B2AVN3, C8VDI2, C8VDQ4, I1RKA1, I1S4N7, O60749, O95219, P0C220, P83094, Q0WQF4, Q2TBW7, Q2U7R4, Q2UB56, Q4IR87, Q4WCV3, Q4WUE5, Q4WZF1, Q524W4, Q5AZC9, Q5R4C2, Q5R6M6, Q5R9A9, Q6NRZ4, Q6P3Q6, Q6PCS4, Q6VVX2, Q7SB54, Q7SB97, Q8J2R3, Q8K3H0, Q8VWF1, Q91VH2

Diamond homologs: A8E5U3, Q08DP2, Q5PPY2, Q5XIX8, Q5ZJA9, Q969J3, Q9D920

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 67 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	6	106.2×	7e-10
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	93.7×	1e-09
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	93.7×	1e-09
Activation of BH3-only proteins	6	69.3×	6e-09
mTORC1-mediated signalling	6	66.4×	6e-09
Energy dependent regulation of mTOR by LKB1-AMPK	5	45.8×	9e-07
RHO GTPases activate PKNs	6	44.3×	7e-08
Intrinsic Pathway for Apoptosis	6	40.9×	1e-07

GO biological processes:

GO term	Partners	Fold	FDR
lysosome localization	8	71.4×	3e-11
TORC1 signaling	5	68.0×	6e-07
protein targeting	7	43.5×	2e-08
positive regulation of TOR signaling	5	42.0×	6e-06
positive regulation of TORC1 signaling	6	30.1×	3e-06
cellular response to amino acid stimulus	5	26.0×	6e-05
intracellular protein localization	9	16.0×	3e-07
exocytosis	6	15.4×	9e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	1
Uncertain significance	31
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
4292580	NM_058169.6(BORCS5):c.420del (p.Lys141fs)	Likely pathogenic

SpliceAI

1331 predictions. Top by Δscore:

Variant	Effect	Δscore
12:12357507:CAGGT:C	donor_loss	1.0000
12:12357510:G:T	donor_loss	1.0000
12:12357511:T:A	donor_loss	1.0000
12:12361204:A:AG	acceptor_gain	1.0000
12:12361204:AGT:A	acceptor_gain	1.0000
12:12361205:G:GA	acceptor_gain	1.0000
12:12361205:GT:G	acceptor_gain	1.0000
12:12361205:GTG:G	acceptor_gain	1.0000
12:12361205:GTGA:G	acceptor_gain	1.0000
12:12435623:T:A	acceptor_gain	1.0000
12:12435623:TGAA:T	acceptor_loss	1.0000
12:12435626:A:AG	acceptor_gain	1.0000
12:12435626:AG:A	acceptor_gain	1.0000
12:12435626:AGG:A	acceptor_gain	1.0000
12:12435627:G:GG	acceptor_gain	1.0000
12:12435627:GG:G	acceptor_gain	1.0000
12:12435627:GGG:G	acceptor_gain	1.0000
12:12435627:GGGCT:G	acceptor_gain	1.0000
12:12435783:GAG:G	donor_gain	1.0000
12:12435783:GAGGT:G	donor_loss	1.0000
12:12435784:AGGTA:A	donor_loss	1.0000
12:12435785:GGTA:G	donor_loss	1.0000
12:12435786:G:C	donor_loss	1.0000
12:12435787:T:G	donor_loss	1.0000
12:12464360:G:T	donor_gain	1.0000
12:12361201:TTCA:T	acceptor_loss	0.9900
12:12361202:TCAGT:T	acceptor_loss	0.9900
12:12361203:CA:C	acceptor_loss	0.9900
12:12361205:GTGAC:G	acceptor_gain	0.9900
12:12361347:AAGG:A	donor_loss	0.9900

AlphaMissense

1295 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:12361248:T:A	I34N	1.000
12:12361248:T:G	I34S	1.000
12:12361314:T:C	L56S	1.000
12:12435724:T:C	L100P	1.000
12:12435735:G:C	A104P	1.000
12:12435745:T:A	V107D	1.000
12:12435757:A:C	Q111P	1.000
12:12361248:T:C	I34T	0.999
12:12361254:T:A	V36D	0.999
12:12361257:T:A	V37E	0.999
12:12361331:T:C	F62L	0.999
12:12361333:C:A	F62L	0.999
12:12361333:C:G	F62L	0.999
12:12435709:G:C	R95P	0.999
12:12435720:C:G	H99D	0.999
12:12435741:G:C	A106P	0.999
12:12435747:G:C	A108P	0.999
12:12435750:T:C	F109L	0.999
12:12435752:T:A	F109L	0.999
12:12435752:T:G	F109L	0.999
12:12435754:A:T	D110V	0.999
12:12435758:G:C	Q111H	0.999
12:12435758:G:T	Q111H	0.999
12:12435762:G:C	A113P	0.999
12:12435775:G:C	R117P	0.999
12:12465589:G:C	R135P	0.999
12:12465612:G:C	A143P	0.999
12:12465652:T:C	L156P	0.999
12:12465703:T:C	L173P	0.999
12:12435700:T:C	L92P	0.998

dbSNP variants (sampled 300 via entrez): RS1000000798 (12:12459176 A>G), RS1000011795 (12:12377370 G>T), RS1000012767 (12:12387754 C>T), RS1000013614 (12:12393270 G>A), RS1000120813 (12:12363330 C>A,T), RS1000130980 (12:12356149 C>G,T), RS1000172599 (12:12394054 G>A), RS1000179399 (12:12399101 G>T), RS1000243995 (12:12434674 A>G,T), RS1000253533 (12:12358530 C>T), RS1000263115 (12:12405395 C>T), RS1000271751 (12:12387745 A>G,T), RS1000303091 (12:12399969 G>T), RS1000307147 (12:12386651 A>G), RS1000308217 (12:12447221 G>T)

Disease associations

OMIM: gene MIM:616598 | disease phenotypes: MIM:217990

GenCC curated gene-disease

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Limited	Autosomal recessive

Mondo (4): polymicrogyria (MONDO:0000087), microcephaly (MONDO:0001149), corpus callosum, agenesis of (MONDO:0009022), complex neurodevelopmental disorder (MONDO:0100038)

Orphanet (2): Isolated corpus callosum agenesis (Orphanet:200), Polymicrogyria (Orphanet:35981)

HPO phenotypes

1 total (1 of 1 shown, HPO-id order):

HPO	Term
HP:0000252	Microcephaly

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST001725_17	Inflammatory bowel disease	1.000000e-08
GCST004627_140	Lymphocyte count	3.000000e-14
GCST004632_32	Lymphocyte percentage of white cells	2.000000e-10
GCST009305_10	California verbal learning test score	8.000000e-06
GCST009438_10	Voxel-wise structural brain imaging measurements in Alzheimer’s disease	5.000000e-06
GCST010726_48	Periventricular white matter hyperintensities	4.000000e-06
GCST012418_2	Acute respiratory distress syndrome	7.000000e-08
GCST012418_3	Acute respiratory distress syndrome	4.000000e-06
GCST012490_213	Femur bone mineral density x serum urate levels interaction	2.000000e-09
GCST90002388_423	Lymphocyte count	7.000000e-21
GCST90002388_424	Lymphocyte count	7.000000e-11
GCST90002389_384	Lymphocyte percentage of white cells	9.000000e-17
GCST90002389_385	Lymphocyte percentage of white cells	5.000000e-11
GCST90002399_332	Neutrophil percentage of white cells	5.000000e-14
GCST90002399_333	Neutrophil percentage of white cells	1.000000e-10
GCST90011899_63	Aspartate aminotransferase levels	2.000000e-08

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004587	lymphocyte count
EFO:0007993	lymphocyte percentage of leukocytes
EFO:0004874	memory performance
EFO:0004346	neuroimaging measurement
EFO:0005665	white matter hyperintensity measurement
EFO:0004531	urate measurement
EFO:0007990	neutrophil percentage of leukocytes
EFO:0004736	aspartate aminotransferase measurement

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D061085	Agenesis of Corpus Callosum	C10.500.034; C16.131.666.034; C23.300.008
D008831	Microcephaly	C05.660.207.620; C10.500.507.400.500; C16.131.621.207.620; C16.131.666.507.400.500
D065706	Polymicrogyria	C10.500.507.500.500; C16.131.666.507.500.500

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
FR900359	decreases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	increases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	decreases expression	1
bisphenol S	affects cotreatment, increases expression	1
Caffeine	decreases phosphorylation	1
Dexamethasone	increases expression, affects cotreatment	1
Doxorubicin	affects expression	1
Indomethacin	increases expression, affects cotreatment	1
Phenobarbital	affects expression	1
Testosterone	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	increases expression	1
Aflatoxin B1	increases expression	1
Okadaic Acid	increases expression	1
Copper Sulfate	affects expression	1
Acrylamide	decreases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_8390	OCUM-9	Cancer cell line	Sex unspecified
CVCL_D9YQ	Ubigene HeLa BORCS5 KO	Cancer cell line	Female
CVCL_SV76	HAP1 LOH12CR1 (-) 1	Cancer cell line	Male
CVCL_SV77	HAP1 LOH12CR1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

31 trials via MONDO — disease-level, not drug-specific.

Trial	Phase	Status	Title
NCT01678105	PHASE2	COMPLETED	A Phase II Study of Dovitinib in Recurrent and/or Metastatic Adenoid Cystic Carcinoma of the Salivary Glands
NCT06066333	PHASE2	RECRUITING	Study of Radiotherapy and Pembrolizumab in People With Adrenocortical Carcinoma
NCT01898715	PHASE1	COMPLETED	Phase 1 Study of ATR-101 in Subjects With Advanced Adrenocortical Carcinoma
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder
NCT00552045	Not specified	COMPLETED	Epilepsy Phenome/Genome Project
NCT04344626	Not specified	WITHDRAWN	Use of a Tonometer to Identify Epileptogenic Lesions During Pediatric Epilepsy Surgery
NCT05518188	PHASE1/PHASE2	RECRUITING	Melpida: Recombinant Adeno-associated Virus (serotype 9) Encoding a Codon Optimized Human AP4M1 Transgene (hAP4M1opt)
NCT00001639	Not specified	COMPLETED	Evaluation of Patients With Unresolved Chromosome Abnormalities
NCT01151462	Not specified	WITHDRAWN	Postnatal HCMV Infection in Very Preterm Infants. Implications, Morbidity, Growth and Neurodevelopmental Outcomes.
NCT01565005	Not specified	COMPLETED	Microcephaly Genetic Deficiency in Neural Progenitors
NCT02510170	Not specified	COMPLETED	Fetal and Maternal Head Circumference During Pregnancy in Israeli Population
NCT02741882	Not specified	COMPLETED	Zika and Microcephaly: Case-control Study
NCT02943304	Not specified	COMPLETED	Neurodevelopment Outcome of Newborns Exposed to Zika Virus (ZIKV) in Utero
NCT03255369	Not specified	UNKNOWN	Vertical Exposure to Zika Virus and Its Consequences for Child Neurodevelopment (ZIKVIRUSIFF)
NCT03325946	Not specified	RECRUITING	The FBRI VTC Neuromotor Research Clinic
NCT03330600	Not specified	COMPLETED	Efficacy of Aquatic Physiotherapy in Children With Microcephaly by Zika Virus Congenital Syndrome
NCT03548779	Not specified	COMPLETED	North Carolina Genomic Evaluation by Next-generation Exome Sequencing, 2
NCT03651687	Not specified	COMPLETED	Guangzhou Surveillance and Clinical Study in Microcephaly (GSCSM)
NCT03922594	Not specified	TERMINATED	Surveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia
NCT04816175	Not specified	COMPLETED	Intensive Therapy for Children With Microcephaly, Hyperkinetic Movements, or Global Developmental Delay
NCT05322980	Not specified	COMPLETED	Summary of Infants Weighing 500 Grams or Less
NCT06019182	Not specified	RECRUITING	MEHMO Natural History and Biomarkers
NCT06566066	Not specified	RECRUITING	Register for Patients With Thyroid Hormone Resistance.
NCT01262235	PHASE1/PHASE2	COMPLETED	A Dose Finding Study of TKM-080301 Infusion in Neuroendocrine Tumors (NET) and Adrenocortical Carcinoma (ACC) Patients
NCT00170326	Not specified	COMPLETED	Progressive Ventricular Dysfunction Prevention in Pacemaker Patients
NCT01117792	Not specified	COMPLETED	Subcutaneous Implantable Defibrillator (S-ICD) System - CE Clinical Investigation
NCT02267161	Not specified	COMPLETED	Infants With Agenesis of the Corpus Callosum
NCT02826824	Not specified	UNKNOWN	BECOME CHILDREN OF HOLDERS Corpus Callosum Agenesis Screened IN PERIOD Antenatal
NCT05843110	Not specified	UNKNOWN	Decision-making Process of Couples Confronted With Prenatal Diagnosis of an Isolated CCA
NCT06262152	Not specified	UNKNOWN	Sleep Profile of Patients With Septo-optic Dysplasia