ELOVL7

Summary

ELOVL7 (ELOVL fatty acid elongase 7, HGNC:26292) is a protein-coding gene on chromosome 5q12.1, encoding Very long chain fatty acid elongase 7 (A1L3X0). Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle.

Enables fatty acid elongase activity. Involved in fatty acid elongation, polyunsaturated fatty acid; fatty acid elongation, saturated fatty acid; and very long-chain fatty acid biosynthetic process. Located in endoplasmic reticulum.

Source: NCBI Gene 79993 — RefSeq curated summary.

At a glance

• GWAS associations: 23
• Clinical variants (ClinVar): 54 total
• Druggable target: yes
• MANE Select transcript: NM_024930

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26292
Approved symbol	ELOVL7
Name	ELOVL fatty acid elongase 7
Location	5q12.1
Locus type	gene with protein product
Status	Approved
Aliases	FLJ23563
Ensembl gene	ENSG00000164181
Ensembl biotype	protein_coding
OMIM	614451
Entrez	79993

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 2 nonsense_mediated_decay

ENST00000425382, ENST00000504455, ENST00000505959, ENST00000507047, ENST00000508821, ENST00000511799, ENST00000514809, ENST00000866637, ENST00000866638

RefSeq mRNA: 4 — MANE Select: NM_024930 NM_001104558, NM_001297617, NM_001297618, NM_024930

CCDS: CCDS34164, CCDS78013

Canonical transcript exons

ENST00000508821 — 9 exons

Exon	Start	End
ENSE00001504964	60771903	60772093
ENSE00002034916	60751791	60754833
ENSE00002079309	60844160	60844269
ENSE00002079807	60799180	60799230
ENSE00003473825	60757509	60757645
ENSE00003508113	60764227	60764332
ENSE00003591547	60767823	60767903
ENSE00003612720	60766574	60766630
ENSE00003654440	60787334	60787431

Expression profiles

Bgee: expression breadth ubiquitous, 228 present calls, max score 97.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.4587 / max 184.1851, expressed in 947 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
61899	2.2419	654
61897	2.2257	760
61898	1.0133	448
61901	0.2461	90
61902	0.2220	119
61900	0.1807	62
61896	0.1787	62
61895	0.1503	42

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
upper arm skin	UBERON:0004263	97.12	gold quality
epithelial cell of pancreas	CL:0000083	96.03	gold quality
penis	UBERON:0000989	95.17	gold quality
ileal mucosa	UBERON:0000331	95.03	gold quality
upper leg skin	UBERON:0004262	94.90	gold quality
trigeminal ganglion	UBERON:0001675	94.36	gold quality
mammalian vulva	UBERON:0000997	93.79	gold quality
cartilage tissue	UBERON:0002418	93.69	gold quality
dorsal root ganglion	UBERON:0000044	93.13	gold quality
pigmented layer of retina	UBERON:0001782	92.94	gold quality
jejunal mucosa	UBERON:0000399	92.87	gold quality
kidney epithelium	UBERON:0004819	92.61	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	92.27	gold quality
spinal cord	UBERON:0002240	91.78	gold quality
gingival epithelium	UBERON:0001949	91.44	gold quality
skin of hip	UBERON:0001554	90.46	gold quality
mucosa of sigmoid colon	UBERON:0004993	90.10	gold quality
gingiva	UBERON:0001828	89.99	gold quality
pancreatic ductal cell	CL:0002079	89.33	silver quality
zone of skin	UBERON:0000014	89.15	gold quality
skin of leg	UBERON:0001511	89.08	gold quality
endothelial cell	CL:0000115	88.93	gold quality
monocyte	CL:0000576	88.84	gold quality
Brodmann (1909) area 46	UBERON:0006483	88.71	gold quality
colonic mucosa	UBERON:0000317	88.67	gold quality
gall bladder	UBERON:0002110	88.58	gold quality
substantia nigra	UBERON:0002038	88.22	gold quality
skin of abdomen	UBERON:0001416	87.55	gold quality
leukocyte	CL:0000738	87.48	gold quality
midbrain	UBERON:0001891	87.06	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-HCAD-35	yes	26.47
E-ANND-3	yes	6.39

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): SREBF1

miRNA regulators (miRDB)

167 targeting ELOVL7, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-5692B	100.00	71.32	2622
HSA-MIR-5692C	100.00	71.32	2622
HSA-LET-7B-3P	100.00	74.08	3913
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-371B-5P	99.99	75.34	4759
HSA-MIR-373-5P	99.98	75.36	4753
HSA-MIR-616-5P	99.98	75.58	4775
HSA-MIR-3617-3P	99.98	67.86	918
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-590-3P	99.96	74.34	6478

Literature-anchored findings (GeneRIF, showing 7)

• Overexpression of ELOVL7 is associated with prostate cancer growth through saturated long-chain fatty acid metabolism. (PMID:19826053)
• progression of the VLCFA cycle enhances ELOVL7 activity. (PMID:21959040)
• ELOVL7 knockdown or mTOR inhibition impairs HCMV-induced fatty acid elongation. (PMID:25732827)
• Data show that ELOVL7, SOCS3, ACSL4 and CLU were upregulated while PRKAR1A and ABCG1 were downregulated in the phlegm-dampness group. (PMID:27928700)
• Investigating ELOVL7 coding variants in multiple system atrophy. (PMID:33600908)
• The structural basis of fatty acid elongation by the ELOVL elongases. (PMID:34117479)
• ELOVL fatty acid elongase 7 (ELOVL7), upregulated by Mdr2-knockout, predicts advanced liver fibrosis in patients with chronic hepatitis B. (PMID:36930494)

Cross-species orthologs

20 orthologs

Organism	Symbol	Gene ID
danio_rerio	elovl7a	ENSDARG00000069279
		ENSDARG00000100185
mus_musculus	Elovl7	ENSMUSG00000021696
rattus_norvegicus	Elovl7	ENSRNOG00000010450
drosophila_melanogaster	CG18609	FBGN0034382
drosophila_melanogaster	CG17821	FBGN0034383
drosophila_melanogaster	Elovl7	FBGN0037534
drosophila_melanogaster	CG8534	FBGN0037761
drosophila_melanogaster	eloF	FBGN0037762
drosophila_melanogaster	CG16904	FBGN0037763
drosophila_melanogaster	CG9459	FBGN0037764
drosophila_melanogaster	CG9458	FBGN0037765
drosophila_melanogaster	CG5326	FBGN0038983
drosophila_melanogaster	sit	FBGN0038986
drosophila_melanogaster	CG30008	FBGN0050008
drosophila_melanogaster	CG31141	FBGN0051141
drosophila_melanogaster	CG31522	FBGN0051522
drosophila_melanogaster	CG31523	FBGN0051523
drosophila_melanogaster	CG33110	FBGN0053110
drosophila_melanogaster	bond	FBGN0260942

Paralogs (6): ELOVL5 (ENSG00000012660), ELOVL1 (ENSG00000066322), ELOVL4 (ENSG00000118402), ELOVL3 (ENSG00000119915), ELOVL6 (ENSG00000170522), ELOVL2 (ENSG00000197977)

Protein

Protein identifiers

Very long chain fatty acid elongase 7 — A1L3X0 (reviewed: A1L3X0)

Alternative names: 3-keto acyl-CoA synthase ELOVL7, ELOVL fatty acid elongase 7, Elongation of very long chain fatty acids protein 7, Very long chain 3-ketoacyl-CoA synthase 7, Very long chain 3-oxoacyl-CoA synthase 7

All UniProt accessions (5): A1L3X0, D6RBM2, D6RBR5, D6RE10, D6RHD0

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the first and rate-limiting reaction of the four reactions that constitute the long-chain fatty acids elongation cycle. This endoplasmic reticulum-bound enzymatic process allows the addition of 2 carbons to the chain of long- and very long-chain fatty acids (VLCFAs) per cycle. Condensing enzyme with higher activity toward C18 acyl-CoAs, especially C18:3(n-3) acyl-CoAs and C18:3(n-6)-CoAs. Also active toward C20:4-, C18:0-, C18:1-, C18:2- and C16:0-CoAs, and weakly toward C20:0-CoA. Little or no activity toward C22:0-, C24:0-, or C26:0-CoAs. May participate in the production of saturated and polyunsaturated VLCFAs of different chain lengths that are involved in multiple biological processes as precursors of membrane lipids and lipid mediators.

Subunit / interactions. Homodimer. Interacts with TECR.

Subcellular location. Endoplasmic reticulum membrane.

Tissue specificity. Expressed in most tissues except heart and skeletal muscle.

Domain organisation. The C-terminal di-lysine motif may confer endoplasmic reticulum localization.

Pathway. Lipid metabolism; fatty acid biosynthesis.

Similarity. Belongs to the ELO family. ELOVL7 subfamily.

RefSeq proteins (4): NP_001098028, NP_001284546, NP_001284547, NP_079206* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002076	ELO_fam	Family
IPR030457	ELO_CS	Conserved_site
IPR033670	ELOVL7	Family

Pfam: PF01151

Enzyme classification (BRENDA):

• EC 2.3.1.199 — very-long-chain 3-oxoacyl-CoA synthase (BRENDA: 21 organisms, 54 substrates, 11 inhibitors, 6 Km, 0 kcat entries)

Substrate kinetics (BRENDA)

5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
PALMITOYL-COA	0.0012–0.13	2
DECANOYL-COA	0.83	1
LAUROYL-COA	0.05	1
MYRISTOYL-COA	0.4	1
OCTANOYL-COA	0.33	1

Catalyzed reactions (Rhea), 9 shown:

• a very-long-chain acyl-CoA + malonyl-CoA + H(+) = a very-long-chain 3-oxoacyl-CoA + CO2 + CoA (RHEA:32727)
• hexadecanoyl-CoA + malonyl-CoA + H(+) = 3-oxooctadecanoyl-CoA + CO2 + CoA (RHEA:35315)
• octadecanoyl-CoA + malonyl-CoA + H(+) = 3-oxoeicosanoyl-CoA + CO2 + CoA (RHEA:35319)
• eicosanoyl-CoA + malonyl-CoA + H(+) = 3-oxodocosanoyl-CoA + CO2 + CoA (RHEA:35327)
• (6Z,9Z,12Z)-octadecatrienoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(8Z,11Z,14Z)-eicosatrienoyl-CoA + CO2 + CoA (RHEA:35379)
• (5Z,8Z,11Z,14Z)-eicosatetraenoyl-CoA + malonyl-CoA + H(+) = (7Z,10Z,13Z,16Z)-3-oxodocosatetraenoyl-CoA + CO2 + CoA (RHEA:36475)
• (9Z,12Z)-octadecadienoyl-CoA + malonyl-CoA + H(+) = (11Z,14Z)-3-oxoicosa-11,14-dienoyl-CoA + CO2 + CoA (RHEA:36503)
• (9Z)-octadecenoyl-CoA + malonyl-CoA + H(+) = 3-oxo-(11Z)-eicosenoyl-CoA + CO2 + CoA (RHEA:36511)
• (9Z,12Z,15Z)-octadecatrienoyl-CoA + malonyl-CoA + H(+) = (11Z,14Z,17Z)-3-oxoeicosatrienoyl-CoA + CO2 + CoA (RHEA:36523)

UniProt features (55 total): helix 14, binding site 10, topological domain 8, transmembrane region 7, sequence conflict 5, short sequence motif 2, mutagenesis site 2, initiator methionine 1, chain 1, active site 1, modified residue 1, disulfide bond 1, turn 1, strand 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6Y7F	X-RAY DIFFRACTION	2.05

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-A1L3X0-F1	90.05	0.74

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 (1): 150 (nucleophile)

Ligand- & substrate-binding residues (10): 124; 137; 139; 142; 147; 187; 204; 208; 211; 266

Post-translational modifications (1): 2

Disulfide bonds (1): 99–231

Mutagenesis-validated functional residues (2):

Position	Phenotype
150	loss of activity alone or when associated with a-151.
151	loss of activity; when associated with a-150.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-75876	Synthesis of very long-chain fatty acyl-CoAs

MSigDB gene sets: 212 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, REACTOME_SYNTHESIS_OF_VERY_LONG_CHAIN_FATTY_ACYL_COAS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, BILD_HRAS_ONCOGENIC_SIGNATURE, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_FATTY_ACYL_COA_METABOLIC_PROCESS, GOBP_SULFUR_COMPOUND_BIOSYNTHETIC_PROCESS, GOBP_SPHINGOLIPID_METABOLIC_PROCESS

GO Biological Process (11): unsaturated fatty acid biosynthetic process (GO:0006636), fatty acid elongation, saturated fatty acid (GO:0019367), sphingolipid biosynthetic process (GO:0030148), fatty acid elongation, monounsaturated fatty acid (GO:0034625), fatty acid elongation, polyunsaturated fatty acid (GO:0034626), long-chain fatty-acyl-CoA biosynthetic process (GO:0035338), very long-chain fatty acid biosynthetic process (GO:0042761), lipid metabolic process (GO:0006629), fatty acid metabolic process (GO:0006631), fatty acid biosynthetic process (GO:0006633), fatty acid elongation (GO:0030497)

GO Molecular Function (3): fatty acid elongase activity (GO:0009922), protein binding (GO:0005515), transferase activity (GO:0016740)

GO Cellular Component (3): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Fatty acyl-CoA biosynthesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
fatty acid biosynthetic process	3
lipid biosynthetic process	2
fatty acid elongation, unsaturated fatty acid	2
unsaturated fatty acid metabolic process	1
fatty acid elongation	1
sphingolipid metabolic process	1
long-chain fatty-acyl-CoA metabolic process	1
fatty-acyl-CoA biosynthetic process	1
very long-chain fatty acid metabolic process	1
primary metabolic process	1
lipid metabolic process	1
monocarboxylic acid metabolic process	1
fatty acid metabolic process	1
monocarboxylic acid biosynthetic process	1
acyltransferase activity, transferring groups other than amino-acyl groups	1
binding	1
catalytic activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1088 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ELOVL7	FADS2	O95864	545
ELOVL7	SCD	O00767	523
ELOVL7	ACLY	P53396	518
ELOVL7	FBXO47	Q5MNV8	506
ELOVL7	FASN	P49327	489
ELOVL7	RLIM	Q9NVW2	471
ELOVL7	SCD5	Q86SK9	457
ELOVL7	SREBF1	P36956	453
ELOVL7	ACAD10	Q6JQN1	439
ELOVL7	FADS1	O60427	427
ELOVL7	ACACA	Q13085	423
ELOVL7	TMEM120A	Q9BXJ8	404
ELOVL7	HACD3	Q9P035	403
ELOVL7	HSD17B12	Q53GQ0	402
ELOVL7	HACD1	B0YJ81	382

IntAct

43 interactions, top by confidence:

A	B	Type	Score
DTNBP1	ELOVL7	psi-mi:“MI:0915”(physical association)	0.560
ELOVL7	DTNBP1	psi-mi:“MI:0915”(physical association)	0.560
EMP3	ELOVL7	psi-mi:“MI:0915”(physical association)	0.560
TMEM14C	ELOVL7	psi-mi:“MI:0915”(physical association)	0.560
SERF1A	ELOVL7	psi-mi:“MI:0915”(physical association)	0.560
RTP2	ELOVL7	psi-mi:“MI:0915”(physical association)	0.560
SYNJ2BP	ELOVL7	psi-mi:“MI:0915”(physical association)	0.560
ELOVL7	SERF1A	psi-mi:“MI:0915”(physical association)	0.560
ELOVL7	RTP2	psi-mi:“MI:0915”(physical association)	0.560
ELOVL7	EMP3	psi-mi:“MI:0915”(physical association)	0.560
ELOVL7	TMEM14C	psi-mi:“MI:0915”(physical association)	0.560
ELOVL7	LRCH4	psi-mi:“MI:0915”(physical association)	0.560
ELOVL7	VAMP1	psi-mi:“MI:0915”(physical association)	0.560
ELOVL7	SLC41A1	psi-mi:“MI:0915”(physical association)	0.560
ELOVL7	SYNJ2BP	psi-mi:“MI:0915”(physical association)	0.560
ELOVL7	UBE2J2	psi-mi:“MI:0915”(physical association)	0.560
ELOVL7	ADGRE2	psi-mi:“MI:0915”(physical association)	0.560
	TMEM223	psi-mi:“MI:0914”(association)	0.350
CCDC47	ESYT2	psi-mi:“MI:0914”(association)	0.350
SLC12A1	ELOVL7	psi-mi:“MI:0914”(association)	0.350
SLC30A7	ESYT2	psi-mi:“MI:0914”(association)	0.350
TECR	ELOVL7	psi-mi:“MI:0914”(association)	0.350

BioGRID (26): DTNBP1 (Two-hybrid), ELOVL7 (Affinity Capture-MS), ELOVL7 (Two-hybrid), ELOVL7 (Two-hybrid), ELOVL7 (Two-hybrid), ELOVL7 (Two-hybrid), ELOVL7 (Two-hybrid), ELOVL7 (Two-hybrid), ELOVL7 (Two-hybrid), SERF1A (Two-hybrid), RTP2 (Two-hybrid), SERF1B (Two-hybrid), SYNJ2BP (Two-hybrid), ELOVL7 (Affinity Capture-MS), ELOVL7 (Affinity Capture-MS)

ESM2 similar proteins: A0A0C5PHQ7, A0JNC4, A1L3X0, B4QVX4, D4A612, D4ADY9, G5EEE5, O35949, P49191, Q03574, Q1A3B0, Q1HRV8, Q20300, Q20303, Q2KJD9, Q32NI8, Q3S8M4, Q4D321, Q4D5J7, Q4DHY3, Q4DUK4, Q4QJ85, Q4R516, Q54TC9, Q57UP6, Q57X51, Q5M8U1, Q5RFL5, Q6GLX2, Q6P4N1, Q6PC64, Q84QC0, Q8BHI7, Q8IU89, Q920L5, Q920L6, Q920L7, Q95K73, Q9BW60, Q9D2Y9

Diamond homologs: A0A0C5PHQ7, A0JNC4, A1L3X0, B4QVX4, D4A612, D4ADY9, O35949, P25358, Q1HRV8, Q2KJD9, Q32NI8, Q3S8M4, Q4D321, Q4D5J7, Q4Q5G6, Q4QJ85, Q4R516, Q57X51, Q5M8U1, Q5RFL5, Q8BHI7, Q920L7, Q95K73, Q9BW60, Q9D2Y9, Q9EQC4, Q9GZR5, Q9JLJ4, Q9JLJ5, Q9NXB9, Q9NYP7, Q9VH58, Q9VHX7, P40319, P49191, Q03574, Q54TC9, Q57UP8, Q5ZJR8, Q7LKX0

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
ELOVL7	“down-regulates quantity”	palmitoyl-CoA	“chemical modification”
ELOVL7	“up-regulates quantity”	3-hydroxyoctadecanoyl-CoA	“chemical modification”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	43
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2185 predictions. Top by Δscore:

Variant	Effect	Δscore
5:60757507:A:AC	donor_gain	1.0000
5:60757508:C:CC	donor_gain	1.0000
5:60757508:CAAG:C	donor_gain	1.0000
5:60768644:A:AC	donor_gain	1.0000
5:60768645:C:CC	donor_gain	1.0000
5:60768645:CATT:C	donor_gain	1.0000
5:60771947:A:AC	donor_gain	1.0000
5:60771948:C:CC	donor_gain	1.0000
5:60771962:T:A	donor_gain	1.0000
5:60787328:ACTC:A	donor_loss	1.0000
5:60787329:CTC:C	donor_loss	1.0000
5:60787330:TCA:T	donor_loss	1.0000
5:60787331:CA:C	donor_loss	1.0000
5:60787333:C:CT	donor_loss	1.0000
5:60787432:C:CC	acceptor_gain	1.0000
5:60787435:CAG:C	acceptor_gain	1.0000
5:60787436:A:T	acceptor_gain	1.0000
5:60787437:G:C	acceptor_gain	1.0000
5:60787437:G:GC	acceptor_gain	1.0000
5:60787442:A:AC	acceptor_gain	1.0000
5:60787442:A:C	acceptor_gain	1.0000
5:60811331:A:AC	donor_gain	1.0000
5:60811332:C:CC	donor_gain	1.0000
5:60843446:T:TA	donor_gain	1.0000
5:60757500:ATTAC:A	donor_loss	0.9900
5:60757501:TTACT:T	donor_loss	0.9900
5:60757502:TACT:T	donor_loss	0.9900
5:60757503:A:AC	donor_gain	0.9900
5:60757503:ACT:A	donor_loss	0.9900
5:60757504:C:CC	donor_gain	0.9900

AlphaMissense

1868 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
5:60754711:A:C	F253L	0.999
5:60754711:A:T	F253L	0.999
5:60754713:A:G	F253L	0.999
5:60764273:A:C	H151Q	0.999
5:60764273:A:T	H151Q	0.999
5:60764275:G:C	H151D	0.999
5:60764278:G:C	H150D	0.999
5:60754702:A:C	F256L	0.998
5:60754702:A:T	F256L	0.998
5:60754704:A:G	F256L	0.998
5:60757534:T:A	K204I	0.998
5:60757538:A:G	W203R	0.998
5:60757538:A:T	W203R	0.998
5:60757593:C:A	M184I	0.998
5:60757593:C:G	M184I	0.998
5:60757593:C:T	M184I	0.998
5:60757602:A:C	H181Q	0.998
5:60757602:A:T	H181Q	0.998
5:60757604:G:C	H181D	0.998
5:60757614:A:C	N177K	0.998
5:60757614:A:T	N177K	0.998
5:60764275:G:T	H151N	0.998
5:60764276:A:C	H150Q	0.998
5:60764276:A:T	H150Q	0.998
5:60764278:G:T	H150N	0.998
5:60764316:C:G	R137P	0.998
5:60766578:T:A	D130V	0.998
5:60766578:T:G	D130A	0.998
5:60766579:C:G	D130H	0.998
5:60766595:T:A	K124N	0.998

dbSNP variants (sampled 300 via entrez): RS1000014093 (5:60766029 G>A), RS1000058101 (5:60809516 A>G,T), RS1000125302 (5:60802137 T>A,C), RS1000132835 (5:60804787 C>G), RS1000136242 (5:60759641 A>G,T), RS1000150260 (5:60808100 T>A,C), RS1000166425 (5:60818900 C>T), RS1000220017 (5:60812492 GA>G,GAA), RS1000242982 (5:60816078 T>C), RS1000258373 (5:60841631 T>C), RS1000286950 (5:60753260 T>C), RS1000327444 (5:60822558 C>T), RS1000383408 (5:60844274 T>C), RS1000384202 (5:60753170 C>T), RS1000398532 (5:60779751 T>A)

Disease associations

OMIM: gene MIM:614451 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

23 associations (top):

Study	Trait	p-value
GCST003784_6	Multiple system atrophy	3.000000e-07
GCST004521_137	Autism spectrum disorder or schizophrenia	2.000000e-09
GCST004521_26	Autism spectrum disorder or schizophrenia	1.000000e-09
GCST004521_260	Autism spectrum disorder or schizophrenia	6.000000e-09
GCST004599_97	Mean platelet volume	6.000000e-27
GCST004902_22	Parkinson’s disease	5.000000e-15
GCST005316_576	Intelligence (MTAG)	2.000000e-11
GCST008810_54	Smoking initiation (ever regular vs never regular)	4.000000e-09
GCST008892_9	Working memory	3.000000e-06
GCST009325_33	Parkinson’s disease or first degree relation to individual with Parkinson’s disease	3.000000e-23
GCST009523_25	Household income	4.000000e-09
GCST009523_26	Household income	3.000000e-09
GCST009524_225	Household income (MTAG)	2.000000e-20
GCST009524_252	Household income (MTAG)	2.000000e-11
GCST010002_28	Refractive error	9.000000e-09
GCST010701_32	Cortical surface area (MOSTest)	2.000000e-29
GCST010702_115	Subcortical volume (MOSTest)	2.000000e-09
GCST010703_98	Brain morphology (MOSTest)	5.000000e-41
GCST010991_20	Parkinson’s disease	7.000000e-10
GCST011617_10	Cortical surface area	6.000000e-20
GCST90000047_101	Age at first sexual intercourse	2.000000e-10
GCST90002395_666	Mean platelet volume	9.000000e-11
GCST90002395_667	Mean platelet volume	3.000000e-59

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0005670	smoking initiation
EFO:0004335	short-term memory
EFO:0009695	household income
EFO:0004346	neuroimaging measurement
EFO:0009749	age at first sexual intercourse measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5169094 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	increases expression	2
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Smoke	decreases expression	2
Valproic Acid	increases expression	2
Cyclosporine	decreases expression, increases expression	2
Cadmium Chloride	increases expression, decreases expression	2
aristolochic acid I	decreases expression	1
TL8-506	affects cotreatment, increases expression	1
methylmercuric chloride	increases expression, decreases expression	1
alpha phellandrene	increases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
potassium chromate(VI)	increases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
nickel sulfate	increases expression	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression, affects cotreatment	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
obeticholic acid	increases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
enzalutamide	decreases expression	1
bisphenol S	decreases methylation	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Air Pollutants	increases abundance, increases expression	1

ChEMBL screening assays

3 unique, capped per target: 3 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5132825	Binding	Inhibition of ELOVL7 (unknown origin) using C18-acyl-CoA as substrate by radiometric enzyme assay	Discovery and Optimization of Pyrazole Amides as Inhibitors of ELOVL1. — J Med Chem

Clinical trials (associated diseases)

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