SEC14L1

Summary

SEC14L1 (SEC14 like lipid binding 1, HGNC:10698) is a protein-coding gene on chromosome 17q25.2-q25.3, encoding SEC14-like protein 1 (Q92503). May play a role in innate immunity by inhibiting the antiviral RIG-I signaling pathway.

The protein encoded by this gene belongs to the SEC14 cytosolic factor family. It has similarity to yeast SEC14 and to Japanese flying squid RALBP which suggests a possible role of the gene product in an intracellular transport system. Multiple alternatively spliced transcript variants have been found for this gene; some variants represent read-through transcripts that include exons from the upstream gene C17orf86.

Source: NCBI Gene 6397 — RefSeq curated summary.

At a glance

• GWAS associations: 4
• Clinical variants (ClinVar): 111 total
• MANE Select transcript: NM_001143998

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:10698
Approved symbol	SEC14L1
Name	SEC14 like lipid binding 1
Location	17q25.2-q25.3
Locus type	gene with protein product
Status	Approved
Aliases	PRELID4A
Ensembl gene	ENSG00000129657
Ensembl biotype	protein_coding
OMIM	601504
Entrez	6397

Gene structure

Transcript identifiers

Ensembl transcripts: 36 — 29 protein_coding, 4 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000392476, ENST00000430767, ENST00000431431, ENST00000436233, ENST00000443798, ENST00000561721, ENST00000585618, ENST00000586390, ENST00000586429, ENST00000587491, ENST00000587820, ENST00000587821, ENST00000588488, ENST00000588616, ENST00000588696, ENST00000588721, ENST00000588880, ENST00000589202, ENST00000589827, ENST00000590483, ENST00000591413, ENST00000591437, ENST00000591786, ENST00000875146, ENST00000875147, ENST00000875148, ENST00000875149, ENST00000875150, ENST00000875151, ENST00000875152, ENST00000875153, ENST00000875154, ENST00000875155, ENST00000875156, ENST00000955366, ENST00000955367

RefSeq mRNA: 7 — MANE Select: NM_001143998 NM_001039573, NM_001143998, NM_001143999, NM_001144001, NM_001204408, NM_001204410, NM_003003

CCDS: CCDS45789

Canonical transcript exons

ENST00000436233 — 17 exons

Exon	Start	End
ENSE00000745413	77209342	77209476
ENSE00000745473	77205276	77205346
ENSE00000745482	77203570	77203658
ENSE00000890567	77191181	77191312
ENSE00000890569	77194677	77194911
ENSE00000890570	77196202	77196311
ENSE00000890571	77200484	77200673
ENSE00001118088	77211950	77212201
ENSE00001217106	77142646	77142750
ENSE00001612256	77140969	77141107
ENSE00001741900	77213918	77217101
ENSE00003548541	77193421	77193549
ENSE00003588722	77206728	77206862
ENSE00003653385	77206229	77206400
ENSE00003671267	77213314	77213492
ENSE00003674164	77143567	77143659
ENSE00003784433	77190803	77190952

Expression profiles

Bgee: expression breadth ubiquitous, 295 present calls, max score 98.87.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 60.7563 / max 3820.3590, expressed in 1818 samples.

FANTOM5 promoters (11 alternative TSS)

Promoter ID	TPM avg	Samples expressed
162924	47.8833	1814
162915	19.8000	1798
162923	11.0676	1782
162919	0.6838	129
162920	0.4090	76
162922	0.3288	137
162925	0.1849	72
162926	0.1029	36
162927	0.0521	8
162931	0.0293	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	98.87	gold quality
medial globus pallidus	UBERON:0002477	98.66	gold quality
globus pallidus	UBERON:0001875	98.39	gold quality
blood	UBERON:0000178	98.18	gold quality
inferior olivary complex	UBERON:0002127	97.89	gold quality
lower lobe of lung	UBERON:0008949	97.87	gold quality
right lung	UBERON:0002167	97.71	gold quality
pericardium	UBERON:0002407	97.68	gold quality
olfactory bulb	UBERON:0002264	97.46	gold quality
sperm	CL:0000019	97.37	gold quality
male germ cell	CL:0000015	97.36	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	97.31	gold quality
CA1 field of hippocampus	UBERON:0003881	97.20	gold quality
superficial temporal artery	UBERON:0001614	97.17	gold quality
lateral globus pallidus	UBERON:0002476	97.14	gold quality
secondary oocyte	CL:0000655	97.08	gold quality
epithelium of nasopharynx	UBERON:0001951	97.08	gold quality
gluteal muscle	UBERON:0002000	97.08	gold quality
mucosa of paranasal sinus	UBERON:0005030	97.06	gold quality
renal medulla	UBERON:0000362	96.97	gold quality
metanephric glomerulus	UBERON:0004736	96.94	gold quality
bone marrow cell	CL:0002092	96.86	gold quality
cardia of stomach	UBERON:0001162	96.86	gold quality
postcentral gyrus	UBERON:0002581	96.83	gold quality
upper lobe of lung	UBERON:0008948	96.80	gold quality
upper lobe of left lung	UBERON:0008952	96.71	gold quality
peritoneum	UBERON:0002358	96.69	gold quality
omental fat pad	UBERON:0010414	96.69	gold quality
trabecular bone tissue	UBERON:0002483	96.67	gold quality
adipose tissue of abdominal region	UBERON:0007808	96.63	gold quality

Single-cell (SCXA)

Detected in 12 experiment(s), a significant marker in 10.

Experiment	Marker?	Max mean expression
E-GEOD-135922	yes	1318.84
E-MTAB-8271	yes	850.24
E-MTAB-10553	yes	50.71
E-CURD-122	yes	40.83
E-CURD-119	yes	36.95
E-HCAD-1	yes	33.54
E-HCAD-35	yes	17.83
E-CURD-88	yes	13.58
E-CURD-114	yes	12.23
E-MTAB-10137	no	527.91
E-MTAB-8205	no	342.34
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): IRF3

miRNA regulators (miRDB)

150 targeting SEC14L1, 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-3162-3P	100.00	65.37	363
HSA-MIR-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-1252-5P	100.00	69.80	2774
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-4510	100.00	66.60	2050
HSA-MIR-6127	100.00	66.76	2188
HSA-MIR-6129	100.00	66.46	2080
HSA-MIR-6130	100.00	66.69	2012
HSA-MIR-6133	100.00	66.48	2064
HSA-MIR-518D-5P	100.00	67.51	979
HSA-MIR-518E-5P	100.00	67.66	954
HSA-MIR-518F-5P	100.00	67.51	979
HSA-MIR-519A-5P	100.00	67.66	954
HSA-MIR-519B-5P	100.00	67.66	954
HSA-MIR-519C-5P	100.00	67.66	954
HSA-MIR-520C-5P	100.00	67.51	979
HSA-MIR-522-5P	100.00	67.66	954
HSA-MIR-523-5P	100.00	67.66	954
HSA-MIR-526A-5P	100.00	67.51	979
HSA-MIR-520G-5P	99.99	66.76	658
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-499A-5P	99.98	70.79	1323
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372

Literature-anchored findings (GeneRIF, showing 7)

• Sec14 and Sec14 like proteins form central conduits to integrate multiple aspects of lipid metabolism with productive phosphoinositide signaling. (Review) (PMID:22374094)
• TCEB1 and SELC14L1 are good candidate markers for predicting prognosis and progression of prostate cancer. (PMID:23083832)
• These findings suggest that SEC14L1 functions as a novel negative regulator of RIG-I-mediated antiviral signaling by preventing RIG-I interaction with the downstream effector. (PMID:23843640)
• a markedly different role of SEC14L1 in TMPSSR2:ERG-negative and TMPSSR2:ERG-positive prostate cancers (PMID:25701228)
• we present genetic evidence that NGx04 inhibits fungal Sec14p and initial data supporting NGx04 as a novel antifungal starting point. (PMID:27855158)
• Our findings specify SEC14L1 as an independent prognostic factor in breast cancer. (PMID:29955149)
• Evaluation of Saccharomyces cerevisiae -like 1 (SEC14L1) in Gynecologic Malignancies Shows Overexpression in Endometrial Serous Carcinoma. (PMID:35283446)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	SEC14L1	ENSDARG00000101792
mus_musculus	Sec14l1	ENSMUSG00000020823
rattus_norvegicus	Sec14l1	ENSRNOG00000002722
drosophila_melanogaster	CG13893	FBGN0035146
caenorhabditis_elegans		WBGENE00007925
caenorhabditis_elegans		WBGENE00009241
caenorhabditis_elegans	ctg-1	WBGENE00010370

Paralogs (6): SEC14L2 (ENSG00000100003), SEC14L3 (ENSG00000100012), SEC14L5 (ENSG00000103184), SEC14L4 (ENSG00000133488), TTPA (ENSG00000137561), SEC14L6 (ENSG00000214491)

Protein

Protein identifiers

SEC14-like protein 1 — Q92503 (reviewed: Q92503)

All UniProt accessions (11): Q92503, D5G3K4, K7EIJ7, K7EJ08, K7EJJ2, K7ELM0, K7ELU0, K7EPE4, K7EQK4, K7ERB3, K7ESI4

UniProt curated annotations — full annotation on UniProt →

Function. May play a role in innate immunity by inhibiting the antiviral RIG-I signaling pathway. In this pathway, functions as a negative regulator of RIGI, the cytoplasmic sensor of viral nucleic acids. Prevents the interaction of RIGI with MAVS/IPS1, an important step in signal propagation. May also regulate the SLC18A3 and SLC5A7 cholinergic transporters.

Subunit / interactions. Interacts with RIGI (via tandem CARD domain); the interaction is direct. Interacts (via GOLD domain) with SLC18A3; the interaction is direct. Interacts with SLC5A7 (via GOLD domain); the interaction is direct.

Subcellular location. Cytoplasm. Golgi apparatus.

Tissue specificity. Ubiquitous.

Isoforms (3)

UniProt ID	Names	Canonical?
Q92503-1	1	yes
Q92503-2	2
Q92503-3	3

RefSeq proteins (7): NP_001034662, NP_001137470, NP_001137471, NP_001137473, NP_001191337, NP_001191339, NP_002994 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001251	CRAL-TRIO_dom	Domain
IPR006797	PRELI/MSF1_dom	Domain
IPR009038	GOLD_dom	Domain
IPR011074	CRAL/TRIO_N_dom	Domain
IPR036273	CRAL/TRIO_N_dom_sf	Homologous_superfamily
IPR036598	GOLD_dom_sf	Homologous_superfamily
IPR036865	CRAL-TRIO_dom_sf	Homologous_superfamily
IPR051064

Pfam: PF00650, PF03765, PF04707

UniProt features (18 total): sequence conflict 5, sequence variant 4, domain 3, modified residue 2, splice variant 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q92503-F1	78.31	0.41

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 (2): 234, 586

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 339 (showing top): CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, GOZGIT_ESR1_TARGETS_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, DITTMER_PTHLH_TARGETS_UP, THEILGAARD_NEUTROPHIL_AT_SKIN_WOUND_DN, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, PAX2_01, GOBP_POSITIVE_REGULATION_OF_RESPONSE_TO_EXTERNAL_STIMULUS, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_DEFENSE_RESPONSE_TO_OTHER_ORGANISM, ACEVEDO_LIVER_TUMOR_VS_NORMAL_ADJACENT_TISSUE_DN, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, DACOSTA_UV_RESPONSE_VIA_ERCC3_COMMON_DN, CYTAGCAAY_UNKNOWN

GO Biological Process (7): choline transport (GO:0015871), negative regulation of cytoplasmic pattern recognition receptor signaling pathway (GO:0039532), negative regulation of RIG-I signaling pathway (GO:0039536), innate immune response (GO:0045087), immune system process (GO:0002376), cytoplasmic pattern recognition receptor signaling pathway (GO:0002753), negative regulation of signal transduction (GO:0009968)

GO Molecular Function (3): RIG-I binding (GO:0039552), protein sequestering activity (GO:0140311), protein binding (GO:0005515)

GO Cellular Component (5): nucleoplasm (GO:0005654), cytoplasm (GO:0005737), Golgi apparatus (GO:0005794), cytosol (GO:0005829), mitochondrial intermembrane space (GO:0005758)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
cytoplasm	2
nitrogen compound transport	1
negative regulation of immune system process	1
cytoplasmic pattern recognition receptor signaling pathway	1
regulation of cytoplasmic pattern recognition receptor signaling pathway	1
negative regulation of intracellular signal transduction	1
RIG-I signaling pathway	1
negative regulation of cytoplasmic pattern recognition receptor signaling pathway	1
regulation of RIG-I signaling pathway	1
immune response	1
defense response to symbiont	1
biological_process	1
positive regulation of cytokine production	1
pattern recognition receptor signaling pathway	1
intracellular receptor signaling pathway	1
signal transduction	1
regulation of signal transduction	1
negative regulation of cell communication	1
negative regulation of signaling	1
negative regulation of response to stimulus	1
signaling receptor binding	1
protein binding	1
molecular sequestering activity	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
endomembrane system	1
intracellular membrane-bounded organelle	1
mitochondrial envelope	1
organelle envelope lumen	1

Protein interactions and networks

STRING

962 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SEC14L1	PTPN9	P43378	892
SEC14L1	SEPTIN9	Q9UHD8	849
SEC14L1	TK1	P04183	565
SEC14L1	SEPTIN4	O43236	549
SEC14L1	SEPTIN8	Q92599	542
SEC14L1	RIGI	O95786	498
SEC14L1	SEPTIN11	Q9NVA2	496
SEC14L1	RTKN	Q9BST9	494
SEC14L1	MFSD11	O43934	485
SEC14L1	MACROD1	Q9BQ69	453
SEC14L1	FAM120A2P	Q5T035	447
SEC14L1	KLHL21	Q9UJP4	442
SEC14L1	CENPE	Q02224	423
SEC14L1	TOP2B	Q02880	416
SEC14L1	SESTD1	Q86VW0	409

IntAct

20 interactions, top by confidence:

A	B	Type	Score
CCNDBP1	RPLP0	psi-mi:“MI:0914”(association)	0.800
CEP70	SEC14L1	psi-mi:“MI:0915”(physical association)	0.560
CD70	METTL15	psi-mi:“MI:0914”(association)	0.530
LAMP3	METTL15	psi-mi:“MI:0914”(association)	0.530
CDH13	INSIG1	psi-mi:“MI:0914”(association)	0.530
KPTN	EIF4G3	psi-mi:“MI:0914”(association)	0.530
CCNDBP1	JUN	psi-mi:“MI:0914”(association)	0.530
SEC14L1	PGAM1	psi-mi:“MI:0915”(physical association)	0.400
Ppm1l	SEC14L1	psi-mi:“MI:0915”(physical association)	0.400
HCST	TMEM120B	psi-mi:“MI:0914”(association)	0.350
C2CD2	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
NCR3LG1	PEDS1	psi-mi:“MI:0914”(association)	0.350
GPR182	METTL15	psi-mi:“MI:0914”(association)	0.350
NPTN	RTL8C	psi-mi:“MI:0914”(association)	0.350
INSR	RIMOC1	psi-mi:“MI:0914”(association)	0.350
SEC14L1	CEP70	psi-mi:“MI:0915”(physical association)	0.000
	SEC14L1	psi-mi:“MI:0915”(physical association)	0.000
arnT	SEC14L1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (34): SEC14L1 (Affinity Capture-MS), SEC14L1 (Affinity Capture-MS), SEC14L1 (Affinity Capture-MS), SEC14L1 (Affinity Capture-MS), SEC14L1 (Affinity Capture-MS), SEC14L1 (Affinity Capture-MS), SEC14L1 (Affinity Capture-MS), SEC14L1 (Affinity Capture-MS), SEC14L1 (Affinity Capture-MS), SEC14L1 (Affinity Capture-MS), SEC14L1 (Affinity Capture-RNA), SEC14L1 (Two-hybrid), SEC14L1 (Two-hybrid), SEC14L1 (Two-hybrid), SEC14L1 (Affinity Capture-Western)

ESM2 similar proteins: A2A8Z1, A8Y5H7, D2KC46, D3YXJ0, D3ZY60, E9PUQ8, F1M386, F1MS15, F1MSG6, F1PBJ0, O35889, O80866, O94512, O94830, P16258, P22059, P36583, P55196, Q0IJ05, Q15057, Q3B7Z2, Q3UYK3, Q5FVC7, Q5QNQ6, Q5R9W4, Q64398, Q6IVG4, Q6ZQK5, Q6ZT07, Q80W71, Q80Y98, Q86XP1, Q8BXR9, Q8CHG7, Q8CI95, Q8K4M9, Q8L751, Q91XL9, Q92503, Q93Y40

Diamond homologs: A8Y5H7, B5MCN3, F4IHJ0, F4J7S8, F4JLE5, F4JVA6, F4JVA9, F4JYJ3, F4K6D3, O43304, O76054, P49193, P58875, Q03606, Q0V9N0, Q16KN5, Q29JQ0, Q7PWB1, Q8GXC6, Q8R0F9, Q92503, Q93ZE9, Q94A34, Q99J08, Q99MS0, Q9SI13, Q9SIW3, Q9UDX3, Q9UDX4, Q9VMD6, Q9Z1J8, Q10137, F4HP88, P24280, P24859, P33324, P45816, P46250, P53989, Q501H5

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	70
Likely benign	5
Benign	6

Top pathogenic / likely-pathogenic (0)

SpliceAI

4520 predictions. Top by Δscore:

Variant	Effect	Δscore
17:77089269:CAGGT:C	donor_loss	1.0000
17:77089270:AG:A	donor_loss	1.0000
17:77089271:GG:G	donor_loss	1.0000
17:77089272:GTAT:G	donor_loss	1.0000
17:77093243:GGTCA:G	acceptor_gain	1.0000
17:77142645:GCTA:G	acceptor_gain	1.0000
17:77142747:ACAG:A	donor_loss	1.0000
17:77142748:CAGG:C	donor_loss	1.0000
17:77142749:AGGTA:A	donor_loss	1.0000
17:77142750:GGTAG:G	donor_loss	1.0000
17:77142751:GTAGG:G	donor_loss	1.0000
17:77142752:T:G	donor_loss	1.0000
17:77143561:TTGCA:T	acceptor_loss	1.0000
17:77143562:TGCA:T	acceptor_loss	1.0000
17:77143563:GCA:G	acceptor_loss	1.0000
17:77143564:CAGG:C	acceptor_loss	1.0000
17:77143565:A:AG	acceptor_gain	1.0000
17:77143566:G:GG	acceptor_gain	1.0000
17:77143566:GGT:G	acceptor_gain	1.0000
17:77143566:GGTGT:G	acceptor_gain	1.0000
17:77143655:TGGCT:T	donor_gain	1.0000
17:77143656:GGCT:G	donor_gain	1.0000
17:77143656:GGCTG:G	donor_gain	1.0000
17:77143657:GCT:G	donor_gain	1.0000
17:77143657:GCTG:G	donor_gain	1.0000
17:77143658:CT:C	donor_gain	1.0000
17:77143658:CTGTA:C	donor_loss	1.0000
17:77143659:TGT:T	donor_loss	1.0000
17:77143660:G:A	donor_loss	1.0000
17:77143660:G:GG	donor_gain	1.0000

AlphaMissense

4715 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:77196268:T:C	L259P	1.000
17:77200506:T:C	L281P	1.000
17:77200515:T:C	L284P	1.000
17:77200574:T:A	W304R	1.000
17:77200574:T:C	W304R	1.000
17:77200578:G:C	R305T	1.000
17:77200578:G:T	R305I	1.000
17:77200579:A:C	R305S	1.000
17:77200579:A:T	R305S	1.000
17:77200655:T:A	W331R	1.000
17:77200655:T:C	W331R	1.000
17:77203599:G:A	G347R	1.000
17:77203599:G:C	G347R	1.000
17:77203599:G:T	G347W	1.000
17:77203600:G:A	G347E	1.000
17:77203600:G:T	G347V	1.000
17:77203608:G:C	D350H	1.000
17:77203608:G:T	D350Y	1.000
17:77203609:A:C	D350A	1.000
17:77203609:A:T	D350V	1.000
17:77203614:A:G	K352E	1.000
17:77203615:A:T	K352I	1.000
17:77203616:A:C	K352N	1.000
17:77203616:A:T	K352N	1.000
17:77203617:G:C	G353R	1.000
17:77203617:G:T	G353C	1.000
17:77203618:G:A	G353D	1.000
17:77203618:G:T	G353V	1.000
17:77205297:G:A	G374R	1.000
17:77205297:G:C	G374R	1.000

dbSNP variants (sampled 300 via entrez): RS1000017415 (17:77118771 A>C), RS1000060374 (17:77100569 TG>T), RS1000074142 (17:77140646 C>T), RS1000096294 (17:77146875 A>G), RS1000104742 (17:77192533 T>C), RS1000136864 (17:77098365 G>T), RS1000154394 (17:77118562 C>G), RS1000207410 (17:77099504 C>T), RS1000224799 (17:77162698 T>C), RS1000288996 (17:77198950 C>A,T), RS1000312271 (17:77145494 T>A,C), RS1000330661 (17:77117973 A>T), RS1000336822 (17:77167129 GTTTTC>G,GTTTTCTTTTC), RS1000342828 (17:77166807 C>G), RS1000384820 (17:77193715 T>C)

Disease associations

OMIM: gene MIM:601504 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

4 associations (top):

Study	Trait	p-value
GCST000477_36	Cognitive performance	7.000000e-07
GCST001559_1	Early cardiac repolarization	3.000000e-06
GCST002690_13	Very long-chain saturated fatty acid levels (fatty acid 20:0)	8.000000e-06
GCST007998_22	Intraocular pressure	2.000000e-07

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0003926	neuropsychological test
EFO:0004885	early cardiac repolarization measurement
EFO:0006796	very long-chain saturated fatty acid measurement
EFO:0004695	intraocular pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Progesterone	affects cotreatment, increases expression	4
Valproic Acid	increases expression, increases methylation	4
bisphenol A	affects cotreatment, decreases methylation, decreases expression, increases expression	3
Benzo(a)pyrene	increases expression, increases methylation, decreases methylation	3
Air Pollutants	affects cotreatment, increases abundance, increases oxidation, affects expression	2
Calcitriol	increases expression, affects cotreatment	2
Estradiol	affects cotreatment, increases expression	2
Ozone	affects expression, affects cotreatment, increases oxidation, increases abundance	2
Tetrachlorodibenzodioxin	increases expression	2
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression, increases expression	2
Cyclosporine	increases expression	2
Aflatoxin B1	affects expression, increases methylation	2
FR900359	affects phosphorylation	1
testosterone enanthate	affects expression	1
alpha phellandrene	increases expression	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
potassium perchlorate	decreases expression	1
terbufos	decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases expression	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
cupric oxide	increases expression	1
1-UFT protocol	decreases response to substance	1
methacrylaldehyde	increases oxidation, increases abundance, affects cotreatment	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
seocalcitol	increases expression	1
K 7174	increases expression	1

Clinical trials (associated diseases)

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