ACOT7

Summary

ACOT7 (acyl-CoA thioesterase 7, HGNC:24157) is a protein-coding gene on chromosome 1p36.31, encoding Cytosolic acyl coenzyme A thioester hydrolase (O00154). Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels.

This gene encodes a member of the acyl coenzyme family. The encoded protein hydrolyzes the CoA thioester of palmitoyl-CoA and other long-chain fatty acids. Decreased expression of this gene may be associated with mesial temporal lobe epilepsy. Alternatively spliced transcript variants encoding distinct isoforms with different subcellular locations have been characterized.

Source: NCBI Gene 11332 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 86 total — 10 pathogenic, 1 likely-pathogenic
• Druggable target: yes
• MANE Select transcript: NM_007274

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24157
Approved symbol	ACOT7
Name	acyl-CoA thioesterase 7
Location	1p36.31
Locus type	gene with protein product
Status	Approved
Aliases	BACH, ACH1, ACT, CTE-II, LACH1, MGC1126, hBACH
Ensembl gene	ENSG00000097021
Ensembl biotype	protein_coding
OMIM	602587
Entrez	11332

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 9 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000361521, ENST00000377842, ENST00000377845, ENST00000377855, ENST00000377860, ENST00000418124, ENST00000473466, ENST00000481175, ENST00000608083, ENST00000867919, ENST00000940539, ENST00000940540

RefSeq mRNA: 4 — MANE Select: NM_007274 NM_007274, NM_181864, NM_181865, NM_181866

CCDS: CCDS30573, CCDS65, CCDS66, CCDS67

Canonical transcript exons

ENST00000361521 — 9 exons

Exon	Start	End
ENSE00001257465	6393257	6393767
ENSE00002753542	6327299	6327413
ENSE00002853187	6333477	6333568
ENSE00002893006	6318492	6318578
ENSE00002936182	6294864	6294980
ENSE00003515439	6281102	6281286
ENSE00003552177	6349749	6349866
ENSE00003721702	6339433	6339589
ENSE00003908109	6264272	6264695

Expression profiles

Bgee: expression breadth ubiquitous, 264 present calls, max score 98.54.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 43.9787 / max 309.2533, expressed in 1802 samples.

FANTOM5 promoters (20 alternative TSS)

Promoter ID	TPM avg	Samples expressed
10027	21.0281	1658
10026	6.3667	1466
10031	5.1266	1666
10029	3.0551	1287
10025	3.0361	904
10030	1.7366	933
10028	1.5341	959
10020	1.1370	295
10014	0.2224	20
10023	0.2032	21

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lateral nuclear group of thalamus	UBERON:0002736	98.54	gold quality
prefrontal cortex	UBERON:0000451	98.02	gold quality
right frontal lobe	UBERON:0002810	97.71	gold quality
Brodmann (1909) area 9	UBERON:0013540	97.48	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	97.34	gold quality
frontal cortex	UBERON:0001870	97.31	gold quality
cortical plate	UBERON:0005343	97.30	gold quality
substantia nigra pars compacta	UBERON:0001965	97.12	gold quality
pons	UBERON:0000988	97.08	gold quality
neocortex	UBERON:0001950	96.98	gold quality
endothelial cell	CL:0000115	96.90	gold quality
anterior cingulate cortex	UBERON:0009835	96.75	gold quality
cingulate cortex	UBERON:0003027	96.73	gold quality
middle temporal gyrus	UBERON:0002771	96.55	gold quality
cerebral cortex	UBERON:0000956	96.36	gold quality
dorsal root ganglion	UBERON:0000044	96.21	gold quality
hypothalamus	UBERON:0001898	96.20	gold quality
substantia nigra pars reticulata	UBERON:0001966	96.13	gold quality
superior frontal gyrus	UBERON:0002661	96.10	gold quality
right hemisphere of cerebellum	UBERON:0014890	95.99	gold quality
frontal pole	UBERON:0002795	95.95	gold quality
nucleus accumbens	UBERON:0001882	95.62	gold quality
orbitofrontal cortex	UBERON:0004167	95.59	gold quality
mucosa of transverse colon	UBERON:0004991	95.55	gold quality
cerebellar cortex	UBERON:0002129	95.49	gold quality
cerebellar hemisphere	UBERON:0002245	95.48	gold quality
telencephalon	UBERON:0001893	95.46	gold quality
postcentral gyrus	UBERON:0002581	95.42	gold quality
Brodmann (1909) area 10	UBERON:0013541	95.39	gold quality
forebrain	UBERON:0001890	95.38	gold quality

Single-cell (SCXA)

Detected in 7 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-MTAB-8142	yes	4012.07
E-ANND-3	yes	12.00
E-MTAB-6142	no	441.21
E-GEOD-70580	no	221.61
E-GEOD-110499	no	140.04
E-MTAB-5061	no	3.27
E-HCAD-5	no	2.32

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CREM, NFIC, SREBF2

miRNA regulators (miRDB)

27 targeting ACOT7, 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-9-5P	100.00	72.28	2361
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-9-3P	99.96	70.88	2068
HSA-MIR-4267	99.96	66.53	2368
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-320A-3P	99.77	69.73	2107
HSA-MIR-320B	99.77	69.73	2107
HSA-MIR-320C	99.77	69.73	2107
HSA-MIR-320D	99.77	69.73	2107
HSA-MIR-4429	99.77	69.62	2111
HSA-MIR-4679	99.76	69.19	1229
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-6839-3P	99.39	68.86	1301
HSA-MIR-3926	98.95	69.26	1438
HSA-MIR-4464	98.95	67.73	820
HSA-MIR-4748	98.95	67.53	810
HSA-MIR-6887-5P	98.56	68.49	1295
HSA-MIR-6795-5P	98.52	68.51	1277
HSA-MIR-548S	98.50	67.17	1213
HSA-MIR-4722-5P	98.46	66.34	1611
HSA-MIR-6811-5P	97.98	64.96	848
HSA-MIR-3650	97.88	64.89	693
HSA-MIR-1226-3P	97.51	66.32	1063
HSA-MIR-6773-5P	97.04	64.30	595
HSA-MIR-3654	96.43	66.55	646
HSA-MIR-6724-5P	96.41	63.11	507

Literature-anchored findings (GeneRIF, showing 8)

• the human BACH gene can express long-chain acyl-CoA hydrolase activity in multiple intracellular compartments by generating BACH isoforms with differential localization signals to affect various cellular functions that involve acyl-CoAs (PMID:12435388)
• BACH was deranged in hippocampus of mesial temporal lobe epilepsy patients. (PMID:15592755)
• WIG1 governs the miRNA-dependent and the miRNA-independent recruitment of AGO2 to lower the stability of and suppress the translation of ACOT7 mRNA. (PMID:28472401)
• PKCzeta was specifically involved in ACOT7 depletion-mediated cell cycle arrest as an upstream molecule of the p53-p21 signaling pathway in MCF7 human breast carcinoma and A549 human lung carcinoma cells. (PMID:28518146)
• Patients in high ACOT7 group had a significant lower EFS and OS, while patients in high versus low expression levels of other types of ACOT showed no significant difference on the outcome (PMID:31640082)
• NMRAL2P activation suppresses ACOT7 expression in gastric cancer. (PMID:32469171)
• Acyl-Coa Thioesterases: A Rheostat That Controls Activated Fatty Acids Modulates Dengue Virus Serotype 2 Replication. (PMID:35215835)
• USP3 promotes cisplatin resistance in non-small cell lung cancer cells by suppressing ACOT7-regulated ferroptosis. (PMID:38502867)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	acot7	ENSDARG00000018653
mus_musculus	Acot7	ENSMUSG00000028937
rattus_norvegicus	Acot7	ENSRNOG00000010580

Paralogs (2): ACOT11 (ENSG00000162390), ACOT12 (ENSG00000172497)

Protein

Protein identifiers

Cytosolic acyl coenzyme A thioester hydrolase — O00154 (reviewed: O00154)

Alternative names: Acyl-CoA thioesterase 7, Brain acyl-CoA hydrolase, CTE-IIa, Long chain acyl-CoA thioester hydrolase

All UniProt accessions (2): O00154, K7EKP8

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the hydrolysis of acyl-CoAs into free fatty acids and coenzyme A (CoASH), regulating their respective intracellular levels. Preferentially hydrolyzes palmitoyl-CoA, but has a broad specificity acting on other fatty acyl-CoAs with chain-lengths of C8-C18. May play an important physiological function in brain.

Subunit / interactions. Homohexamer.

Subcellular location. Cytoplasm. Cytosol Cytoplasm. Cytosol Mitochondrion Mitochondrion.

Tissue specificity. Isoform 4 is expressed exclusively in brain.

Domain organisation. Both HotDog ACOT-type hydrolase domains are required for efficient activity.

Pathway. Lipid metabolism; fatty acid metabolism.

Miscellaneous. Major isoform.

Isoforms (7)

UniProt ID	Names	Canonical?
O00154-1	1, B, HBACHb	yes
O00154-2	2, A-X, hBACHa-X
O00154-3	3, A-Xi, hBACHa-Xi
O00154-4	4, A, hBACHa
O00154-5	5, C, hBACHc
O00154-6	6, D, hBACHd
O00154-7	7

RefSeq proteins (4): NP_009205, NP_863654, NP_863655, NP_863656 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006683	Thioestr_dom	Domain
IPR029069	HotDog_dom_sf	Homologous_superfamily
IPR033120	HOTDOG_ACOT	Domain
IPR040170	Cytosol_ACT	Family

Pfam: PF03061

Enzyme classification (BRENDA):

• EC 3.1.2.2 — palmitoyl-CoA hydrolase (BRENDA: 40 organisms, 184 substrates, 159 inhibitors, 142 Km, 46 kcat entries)
• EC 3.1.2.20 — acyl-CoA hydrolase (BRENDA: 47 organisms, 273 substrates, 173 inhibitors, 271 Km, 184 kcat entries)

Substrate kinetics (BRENDA)

111 substrates with measured Km, best-characterized 15. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
HEXADECANOYL-COA	—	26
HEXADECANOYL-COA	—	25
PALMITOYL-COA	0.0024–33	14
MYRISTOYL-COA	0.0025–0.0228	13
DODECANOYL-COA	0.0018–0.325	12
3-HYDROXYPHENYLACETYL-COA	0.0037–0.9	11
LAUROYL-COA	0.0385–0.185	10
OLEOYL-COA	0.0014–0.0274	10
ARACHIDONOYL-COA	0.0004–0.02	9
DODECANOYL-COA	0.0018–0.325	9
LAUROYL-COA	0.0035–0.0275	9
PALMITOLEOYL-COA	0.0014–0.058	9
OLEOYL-COA	0.0014–0.0088	8
TETRADECANOYL-COA	0.0016–0.024	8
2,3-DIHYDROXYBENZOYL-COA	0.0375–1.42	7

Catalyzed reactions (Rhea), 7 shown:

• hexadecanoyl-CoA + H2O = hexadecanoate + CoA + H(+) (RHEA:16645)
• dodecanoyl-CoA + H2O = dodecanoate + CoA + H(+) (RHEA:30135)
• octadecanoyl-CoA + H2O = octadecanoate + CoA + H(+) (RHEA:30139)
• octanoyl-CoA + H2O = octanoate + CoA + H(+) (RHEA:30143)
• decanoyl-CoA + H2O = decanoate + CoA + H(+) (RHEA:40059)
• tetradecanoyl-CoA + H2O = tetradecanoate + CoA + H(+) (RHEA:40119)
• (9Z)-octadecenoyl-CoA + H2O = (9Z)-octadecenoate + CoA + H(+) (RHEA:40139)

UniProt features (30 total): splice variant 7, strand 6, helix 4, sequence conflict 3, modified residue 3, domain 2, active site 2, chain 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2QQ2	X-RAY DIFFRACTION	2.8

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O00154-F1	85.06	0.75

Functional residue map

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

Catalytic / active sites (2): 66; 255

Post-translational modifications (3): 168, 198, 283

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-77289	Mitochondrial Fatty Acid Beta-Oxidation
R-HSA-1430728	Metabolism
R-HSA-556833	Metabolism of lipids
R-HSA-8978868	Fatty acid metabolism

MSigDB gene sets: 380 (showing top): ELVIDGE_HYPOXIA_DN, GOBP_FATTY_ACID_CATABOLIC_PROCESS, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_COENZYME_A_METABOLIC_PROCESS, JOHANSSON_GLIOMAGENESIS_BY_PDGFB_DN, WHITE_NEUROBLASTOMA_WITH_1P36.3_DELETION, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_LONG_CHAIN_FATTY_ACID_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, PRAMOONJAGO_SOX4_TARGETS_DN, KEGG_BIOSYNTHESIS_OF_UNSATURATED_FATTY_ACIDS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOLDRATH_ANTIGEN_RESPONSE

GO Biological Process (9): acyl-CoA metabolic process (GO:0006637), fatty acid catabolic process (GO:0009062), coenzyme A biosynthetic process (GO:0015937), medium-chain fatty-acyl-CoA catabolic process (GO:0036114), long-chain fatty-acyl-CoA catabolic process (GO:0036116), medium-chain fatty acid biosynthetic process (GO:0051792), palmitic acid biosynthetic process (GO:1900535), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631)

GO Molecular Function (9): fatty-acyl-CoA binding (GO:0000062), long-chain fatty acyl-CoA binding (GO:0036042), protein homodimerization activity (GO:0042803), carboxylic ester hydrolase activity (GO:0052689), long-chain fatty acyl-CoA hydrolase activity (GO:0052816), protein binding (GO:0005515), hydrolase activity (GO:0016787), thiolester hydrolase activity (GO:0016790), fatty acyl-CoA hydrolase activity (GO:0047617)

GO Cellular Component (5): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mitochondrion (GO:0005739), cytosol (GO:0005829), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Fatty acid metabolism	1
Metabolism	1
Metabolism of lipids	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
fatty-acyl-CoA catabolic process	2
hydrolase activity, acting on ester bonds	2
cytoplasm	2
nucleoside phosphate metabolic process	1
sulfur compound metabolic process	1
purine-containing compound metabolic process	1
fatty acid metabolic process	1
lipid catabolic process	1
monocarboxylic acid catabolic process	1
coenzyme A metabolic process	1
sulfur compound biosynthetic process	1
purine-containing compound biosynthetic process	1
nucleoside phosphate biosynthetic process	1
medium-chain fatty-acyl-CoA metabolic process	1
long-chain fatty-acyl-CoA metabolic process	1
fatty acid biosynthetic process	1
medium-chain fatty acid metabolic process	1
long-chain fatty acid biosynthetic process	1
primary metabolic process	1
lipid metabolic process	1
monocarboxylic acid metabolic process	1
acyl-CoA binding	1
fatty acid derivative binding	1
fatty-acyl-CoA binding	1
identical protein binding	1
protein dimerization activity	1
fatty acyl-CoA hydrolase activity	1
binding	1
catalytic activity	1
acyl-CoA hydrolase activity	1
nuclear lumen	1
intracellular anatomical structure	1
intracellular membrane-bounded organelle	1
extracellular vesicle	1

Protein interactions and networks

STRING

1276 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ACOT7	ACOT1	Q86TX2	775
ACOT7	GAPDH	P00354	665
ACOT7	ACOT13	Q9NPJ3	654
ACOT7	CIB1	Q99828	648
ACOT7	ACOT8	O14734	608
ACOT7	ENO1	P06733	576
ACOT7	ACOT9	Q9Y305	557
ACOT7	GABRA1	P14867	546
ACOT7	ANO4	Q32M45	510
ACOT7	MRPS17	Q9Y2R5	507
ACOT7	SLC17A8	Q8NDX2	497
ACOT7	HSD17B12	Q53GQ0	491
ACOT7	ACOT6	Q3I5F7	490
ACOT7	DPYSL2	Q16555	481
ACOT7	ZNF862	O60290	476

IntAct

98 interactions, top by confidence:

A	B	Type	Score
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
CFTR	ESYT2	psi-mi:“MI:2364”(proximity)	0.710
ACOT7	MAGEA6	psi-mi:“MI:0915”(physical association)	0.560
CAMK2B	ACOT7	psi-mi:“MI:0915”(physical association)	0.560
ACOT7	THAP1	psi-mi:“MI:0915”(physical association)	0.560
ACOT7	UBQLN1	psi-mi:“MI:0915”(physical association)	0.560
HEL-S-101	ACOT7	psi-mi:“MI:0915”(physical association)	0.560
MAGEA6	ACOT7	psi-mi:“MI:0915”(physical association)	0.560
ACOT7	CAMK2B	psi-mi:“MI:0915”(physical association)	0.560
UBQLN1	ACOT7	psi-mi:“MI:0915”(physical association)	0.560
ACOT7	HEL-S-101	psi-mi:“MI:0915”(physical association)	0.560
THAP1	ACOT7	psi-mi:“MI:0915”(physical association)	0.560
LPAR1	TMEM223	psi-mi:“MI:0914”(association)	0.530
ANK2	ACOT7	psi-mi:“MI:0914”(association)	0.500
CHD8	ACOT7	psi-mi:“MI:0914”(association)	0.500
CUL3	ACOT7	psi-mi:“MI:0914”(association)	0.500
FMR1	ACOT7	psi-mi:“MI:0914”(association)	0.500
ACOT7	ANK2	psi-mi:“MI:0915”(physical association)	0.500
ACOT7	FMR1	psi-mi:“MI:0915”(physical association)	0.500

BioGRID (215): ACOT7 (Two-hybrid), ACOT7 (Two-hybrid), ACOT7 (Two-hybrid), UBQLN1 (Two-hybrid), THAP1 (Two-hybrid), ACOT7 (Affinity Capture-MS), ACOT7 (Affinity Capture-MS), ACOT7 (Affinity Capture-MS), PCBP1 (Co-fractionation), ACOT7 (Affinity Capture-MS), ACOT7 (Affinity Capture-MS), ACOT7 (Affinity Capture-MS), ACOT7 (Affinity Capture-MS), ACOT7 (Affinity Capture-MS), ACOT7 (Affinity Capture-MS)

ESM2 similar proteins: A2VE14, A2VEA3, B1H1E4, D3Z7P3, O00154, O54865, O94925, P13264, P20595, P21816, P35790, P60334, Q02153, Q03555, Q07G17, Q13042, Q28D01, Q32NS4, Q3MHJ2, Q3ZCW2, Q4ZHR9, Q5EA19, Q5NVN7, Q5R4Q7, Q5R5K6, Q5RFN0, Q5RKN4, Q5VU57, Q5ZHQ2, Q64559, Q6NW85, Q6PFJ9, Q8BGR6, Q8BUV3, Q8C6G8, Q8IUI8, Q8N653, Q8R349, Q8VED9, Q8WWQ2

Diamond homologs: O00154, O66120, O84540, P49851, Q64559, Q6ZUV0, Q91V12, Q9PJK7, Q9Z7Q0, S4TDL2, P0A1A1, P0A1A2, P0A8Z0, P0A8Z1, P0A8Z2, P42398, P44886, P57362, Q89AL4, P0A0Q7, P0A0Q8, Q8VHQ9, Q8WXI4, Q8WYK0, Q99NB7, Q9DBK0, S4TF94, Q32MW3, Q3SWX2, Q9R0X4, Q9Y305

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 87 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
SARS-CoV-2-host interactions	5	10.3×	9e-03
SARS-CoV-2 Infection	6	8.3×	8e-03
SARS-CoV Infections	7	6.7×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	10
Likely pathogenic	1
Uncertain significance	48
Likely benign	6
Benign	7

Top pathogenic / likely-pathogenic (11)

Variant ID	HGVS	Classification
152936	GRCh38/hg38 1p36.32-36.23(chr1:2868477-7332569)x1	Pathogenic
1703625	GRCh37/hg19 1p36.31-36.23(chr1:6250285-7943864)	Pathogenic
1808536	GRCh37/hg19 1p36.31(chr1:5505039-7027995)x1	Pathogenic
1808634	GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	Pathogenic
2574677	GRCh37/hg19 1p36.33-36.31(chr1:1957148-6553454)	Pathogenic
3391869	GRCh37/hg19 1p36.32-36.23(chr1:2454930-8142590)x1	Pathogenic
442741	GRCh37/hg19 1p36.32-36.23(chr1:2793822-7510850)x1	Pathogenic
4682502	GRCh37/hg19 1p36.32-36.22(chr1:4995984-11364920)x1	Pathogenic
4682503	GRCh37/hg19 1p36.32-36.23(chr1:4815557-8695886)x1	Pathogenic
59852	GRCh38/hg38 1p36.32-36.23(chr1:3472163-7842947)x1	Pathogenic
4279192	GRCh37/hg19 1p36.31(chr1:6269873-6441191)x1	Likely pathogenic

SpliceAI

2514 predictions. Top by Δscore:

Variant	Effect	Δscore
1:6264692:CGGG:C	acceptor_gain	1.0000
1:6264696:C:CC	acceptor_gain	1.0000
1:6264704:C:CT	acceptor_gain	1.0000
1:6264704:C:T	acceptor_gain	1.0000
1:6281094:GCAC:G	donor_loss	1.0000
1:6281097:C:CG	donor_loss	1.0000
1:6281098:T:TG	donor_loss	1.0000
1:6281099:CACCA:C	donor_loss	1.0000
1:6281100:A:T	donor_loss	1.0000
1:6281101:CCA:C	donor_gain	1.0000
1:6281133:T:A	donor_gain	1.0000
1:6281282:GCAGC:G	acceptor_gain	1.0000
1:6281283:CAGC:C	acceptor_gain	1.0000
1:6281283:CAGCC:C	acceptor_gain	1.0000
1:6281284:AGC:A	acceptor_gain	1.0000
1:6281284:AGCC:A	acceptor_loss	1.0000
1:6281285:GC:G	acceptor_gain	1.0000
1:6281285:GCC:G	acceptor_loss	1.0000
1:6281286:CC:C	acceptor_gain	1.0000
1:6281286:CCT:C	acceptor_loss	1.0000
1:6281287:C:CC	acceptor_gain	1.0000
1:6281287:CT:C	acceptor_loss	1.0000
1:6281288:T:A	acceptor_loss	1.0000
1:6294858:GGTTA:G	donor_loss	1.0000
1:6294859:GTTA:G	donor_loss	1.0000
1:6294860:TTA:T	donor_loss	1.0000
1:6294861:TACCT:T	donor_loss	1.0000
1:6294862:A:T	donor_loss	1.0000
1:6294976:CACAC:C	acceptor_gain	1.0000
1:6294977:ACAC:A	acceptor_gain	1.0000

AlphaMissense

2423 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:6281163:G:T	A328D	1.000
1:6281252:G:C	F298L	1.000
1:6281252:G:T	F298L	1.000
1:6281254:A:G	F298L	1.000
1:6281262:C:G	R295P	1.000
1:6281265:C:T	G294E	1.000
1:6281266:C:G	G294R	1.000
1:6281266:C:T	G294R	1.000
1:6294883:A:C	F280L	1.000
1:6294883:A:T	F280L	1.000
1:6294884:A:C	F280C	1.000
1:6294884:A:G	F280S	1.000
1:6294885:A:G	F280L	1.000
1:6294903:A:G	S274P	1.000
1:6294905:G:T	A273D	1.000
1:6294911:A:T	V271D	1.000
1:6294932:C:G	R264P	1.000
1:6294938:G:T	A262D	1.000
1:6294939:C:G	A262P	1.000
1:6294947:C:T	G259E	1.000
1:6294948:C:G	G259R	1.000
1:6294948:C:T	G259R	1.000
1:6294950:G:T	A258D	1.000
1:6294958:A:C	D255E	1.000
1:6294958:A:T	D255E	1.000
1:6294959:T:A	D255V	1.000
1:6294959:T:G	D255A	1.000
1:6294960:C:A	D255Y	1.000
1:6294960:C:G	D255H	1.000
1:6294965:A:G	L253P	1.000

dbSNP variants (sampled 300 via entrez): RS1000008151 (1:6392856 T>C), RS1000016568 (1:6379900 G>GA), RS1000064984 (1:6391383 G>A,C), RS1000069844 (1:6308837 C>A), RS1000085108 (1:6270356 C>T), RS1000108777 (1:6351045 T>C), RS1000109956 (1:6386067 A>T), RS1000121002 (1:6274648 A>G), RS1000144885 (1:6306372 G>A), RS1000154940 (1:6279025 A>C,G), RS1000186220 (1:6350015 G>A), RS1000222030 (1:6277992 C>A), RS1000230680 (1:6323974 G>A), RS1000236020 (1:6274850 T>C), RS1000239149 (1:6346302 A>C)

Disease associations

OMIM: gene MIM:602587 | disease phenotypes: MIM:607872

GenCC curated gene-disease

Mondo (1): chromosome 1p36 deletion syndrome (MONDO:0011929)

Orphanet (1): 1p36 deletion syndrome (Orphanet:1606)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST000363_5	QT interval	1.000000e-16
GCST007100_4	Asthma exacerbations in inhaled corticosteroid treatment	2.000000e-06
GCST009698_113	Metabolite levels	3.000000e-08
GCST011743_9	HDL cholesterol levels in HIV infection	2.000000e-06
GCST90020024_1241	A body shape index	2.000000e-09
GCST90020027_1739	Waist-hip index	3.000000e-08
GCST90020029_1360	Waist circumference adjusted for body mass index	3.000000e-09

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004682	QT interval
EFO:0007614	asthma exacerbation measurement
EFO:0005059	acylcarnitine measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0007788	BMI-adjusted waist-hip ratio

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C535362	Chromosome 1p36 Deletion Syndrome (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066532 (SINGLE PROTEIN)

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs11121611	ACOT7		0.00	0

ChEMBL bioactivities

2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
6.78	Kd	167.7	nM	CHEMBL5653589
6.78	ED50	167.7	nM	CHEMBL5653589

PubChem BioAssay actives

1 with measured affinity, of 2 total; 1 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
4-methyl-3-[(2-methyl-6-pyridin-3-ylpyrazolo[3,4-d]pyrimidin-4-yl)amino]-N-[3-(trifluoromethyl)phenyl]benzamide	2147785: Binding affinity to human ACOT7 incubated for 45 mins by Kinobead based pull down assay	kd	0.1677	uM

CTD chemical–gene interactions

62 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression, affects cotreatment	4
bisphenol A	affects cotreatment, increases methylation, decreases expression, decreases methylation	3
Acetaminophen	increases expression, affects response to substance	3
Arsenic	increases expression, affects methylation, affects cotreatment, increases abundance	2
Valproic Acid	affects expression, increases expression	2
Aflatoxin B1	decreases expression, increases methylation	2
GSK-J4	decreases expression	1
bisphenol F	decreases expression, affects cotreatment	1
triphenyl phosphate	affects expression	1
pirinixic acid	affects binding, decreases expression, increases activity	1
beta-lapachone	decreases expression, increases expression	1
arsenite	increases reaction, affects binding	1
mono-(2-ethylhexyl)phthalate	decreases expression	1
cobaltous chloride	increases expression	1
manganese chloride	affects cotreatment, increases abundance, increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
quinoline	increases expression	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
GW 4064	increases expression, affects cotreatment, decreases expression	1
6-(4-chlorophenyl)imidazo(2,1-b)(1,3)thiazole-5-carbaldehyde O-(3,4-dichlorobenzyl)oxime	affects cotreatment, increases expression	1
bisphenol S	decreases methylation	1
jinfukang	increases expression	1
(+)-JQ1 compound	decreases expression	1
bisphenol AF	increases expression	1
Bortezomib	decreases expression	1
Resveratrol	increases expression, affects cotreatment	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5650827	Binding	Binding affinity to human ACOT7 incubated for 45 mins by Kinobead based pull down assay	NVP-BHG712: Effects of Regioisomers on the Affinity and Selectivity toward the EPHrin Family. — ChemMedChem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT01793168	Not specified	RECRUITING	Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
NCT02381457	Not specified	COMPLETED	SNP-based Microdeletion and Aneuploidy RegisTry (SMART)