EFR3A

Summary

EFR3A (EFR3 homolog A, HGNC:28970) is a protein-coding gene on chromosome 8q24.22, encoding Protein EFR3 homolog A (Q14156). Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. It is a selective cancer dependency (DepMap: 38.1% of cell lines).

The protein encoded by this gene is part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders.

Source: NCBI Gene 23167 — RefSeq curated summary.

At a glance

• GWAS associations: 8
• Clinical variants (ClinVar): 166 total
• Cancer dependency (DepMap): dependent in 38.1% of screened cell lines
• MANE Select transcript: NM_015137

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:28970
Approved symbol	EFR3A
Name	EFR3 homolog A
Location	8q24.22
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0143
Ensembl gene	ENSG00000132294
Ensembl biotype	protein_coding
OMIM	611798
Entrez	23167

Gene structure

Transcript identifiers

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

ENST00000254624, ENST00000519656, ENST00000519920, ENST00000520362, ENST00000521940, ENST00000522709, ENST00000523074, ENST00000637848, ENST00000907239, ENST00000907240, ENST00000925999, ENST00000926000

RefSeq mRNA: 7 — MANE Select: NM_015137 NM_001323553, NM_001323554, NM_001323555, NM_001323556, NM_001323557, NM_001323558, NM_015137

CCDS: CCDS34942, CCDS83328

Canonical transcript exons

ENST00000254624 — 23 exons

Exon	Start	End
ENSE00000903973	131979346	131979421
ENSE00000903974	131978847	131979019
ENSE00001176097	132010790	132013642
ENSE00001628647	131968295	131968430
ENSE00001637240	131953818	131953967
ENSE00001639734	131959585	131959663
ENSE00001666846	131970476	131970643
ENSE00001673778	131955768	131955905
ENSE00001680423	131976027	131976141
ENSE00001707179	131949969	131950090
ENSE00001792661	131946483	131946633
ENSE00001797183	131977041	131977092
ENSE00001826192	131904093	131904322
ENSE00003471567	131986194	131986261
ENSE00003490253	131987575	131987702
ENSE00003495779	132001759	132001807
ENSE00003501374	132003236	132003285
ENSE00003554718	131940499	131940575
ENSE00003562514	132002603	132002706
ENSE00003580837	131996406	131996497
ENSE00003641893	131944745	131944872
ENSE00003659273	131984139	131984300
ENSE00003671781	131984929	131985060

Expression profiles

Bgee: expression breadth ubiquitous, 299 present calls, max score 99.50.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 46.5578 / max 367.7639, expressed in 1823 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
90818	46.1286	1823
90819	0.2431	87
90822	0.1747	65
90824	0.0113	4

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
choroid plexus epithelium	UBERON:0003911	99.50	gold quality
endothelial cell	CL:0000115	99.42	gold quality
pons	UBERON:0000988	99.23	gold quality
Brodmann (1909) area 23	UBERON:0013554	99.01	gold quality
corpus epididymis	UBERON:0004359	98.45	gold quality
lateral nuclear group of thalamus	UBERON:0002736	98.38	gold quality
caput epididymis	UBERON:0004358	98.20	gold quality
postcentral gyrus	UBERON:0002581	98.19	gold quality
cerebellar vermis	UBERON:0004720	98.11	gold quality
CA1 field of hippocampus	UBERON:0003881	98.07	gold quality
parietal lobe	UBERON:0001872	97.84	gold quality
skin of hip	UBERON:0001554	97.69	gold quality
superior frontal gyrus	UBERON:0002661	97.64	gold quality
cauda epididymis	UBERON:0004360	97.64	gold quality
visceral pleura	UBERON:0002401	97.48	gold quality
upper leg skin	UBERON:0004262	97.43	gold quality
substantia nigra pars compacta	UBERON:0001965	97.42	gold quality
seminal vesicle	UBERON:0000998	97.27	gold quality
Brodmann (1909) area 46	UBERON:0006483	97.27	gold quality
epithelium of nasopharynx	UBERON:0001951	97.17	gold quality
nasopharynx	UBERON:0001728	97.15	gold quality
mucosa of paranasal sinus	UBERON:0005030	97.15	gold quality
entorhinal cortex	UBERON:0002728	97.13	gold quality
superficial temporal artery	UBERON:0001614	97.04	gold quality
superior vestibular nucleus	UBERON:0007227	96.98	gold quality
blood vessel layer	UBERON:0004797	96.94	gold quality
primary visual cortex	UBERON:0002436	96.84	gold quality
nephron tubule	UBERON:0001231	96.83	gold quality
palpebral conjunctiva	UBERON:0001812	96.81	gold quality
occipital lobe	UBERON:0002021	96.74	gold quality

Single-cell (SCXA)

Detected in 4 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-11121	yes	976.39
E-MTAB-7316	yes	46.82
E-GEOD-137537	yes	21.37
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

151 targeting EFR3A, 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-5011-5P	100.00	83.46	5820
HSA-MIR-190A-3P	100.00	80.35	5520
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-126-5P	100.00	72.71	3180
HSA-MIR-6867-5P	100.00	82.21	3464
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-32-5P	99.98	75.21	1964
HSA-MIR-92A-3P	99.98	75.21	1960
HSA-MIR-92B-3P	99.98	75.25	1955
HSA-MIR-25-3P	99.98	74.60	1817
HSA-MIR-363-3P	99.98	74.72	1821
HSA-MIR-367-3P	99.98	74.83	1819
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-12136	99.98	72.81	5713

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 38.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

• These data suggest that mammalian Efr3s contribute to the control of the phosphorylation state and, hence, desensitization of AT1a receptors, and could affect responsiveness of G-protein-coupled receptors in higher eukaryotes. (PMID:25380825)
• Oncogenic KRAS is dependent upon an EFR3A-PI4KA signaling axis for potent tumorigenic activity. (PMID:34504076)
• EFR3A: a new raft domain organizing protein? (PMID:37880612)
• Circular RNA EFR3A promotes nasopharyngeal carcinoma progression through modulating the miR-654-3p/EFR3A axis. (PMID:38063110)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	efr3a	ENSDARG00000005163
mus_musculus	Efr3a	ENSMUSG00000015002
rattus_norvegicus	Efr3a	ENSRNOG00000025528
drosophila_melanogaster	stmA	FBGN0086784
caenorhabditis_elegans		WBGENE00016311

Paralogs (1): EFR3B (ENSG00000084710)

Protein

Protein identifiers

Protein EFR3 homolog A — Q14156 (reviewed: Q14156)

Alternative names: Protein EFR3-like

All UniProt accessions (4): Q14156, A0A1B0GUZ7, E5RFJ2, E5RJS1

UniProt curated annotations — full annotation on UniProt →

Function. Component of a complex required to localize phosphatidylinositol 4-kinase (PI4K) to the plasma membrane. The complex acts as a regulator of phosphatidylinositol 4-phosphate (PtdIns(4)P) synthesis. In the complex, EFR3A probably acts as the membrane-anchoring component. Also involved in responsiveness to G-protein-coupled receptors; it is however unclear whether this role is direct or indirect.

Subunit / interactions. Component of a phosphatidylinositol 4-kinase (PI4K) complex, composed of PI4KA, EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and HYCC (HYCC1 or HYCC2).

Subcellular location. Cell membrane. Cytoplasm. Cytosol.

Post-translational modifications. Palmitoylated at its N-terminus, anchoring the protein to the plasma membrane.

Disease relevance. Genetic variations in EFR3A may be associated with susceptibility to autism.

Similarity. Belongs to the EFR3 family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q14156-1	1	yes
Q14156-2	2
Q14156-3	3

RefSeq proteins (7): NP_001310482, NP_001310483, NP_001310484, NP_001310485, NP_001310486, NP_001310487, NP_055952* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016024	ARM-type_fold	Homologous_superfamily
IPR049152	EFR3-like_ARM	Repeat
IPR051851	EFR3_Homologs	Family

Pfam: PF21052

UniProt features (37 total): sequence variant 27, modified residue 4, sequence conflict 2, splice variant 2, chain 1, mutagenesis site 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
9BAX	ELECTRON MICROSCOPY	3.65

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14156-F1	81.11	0.50

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 (4): 360, 363, 422, 694

Mutagenesis-validated functional residues (1):

Position	Phenotype
6–9	induces localization to the cytosol.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 198 (showing top): GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, MORF_RAB5A, CHEOK_RESPONSE_TO_MERCAPTOPURINE_AND_LD_MTX_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_NEUROTRANSMITTER_TRANSPORT, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PROTEIN_LOCALIZATION_TO_CELL_PERIPHERY, GOBP_CELL_CELL_SIGNALING, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, OUELLET_OVARIAN_CANCER_INVASIVE_VS_LMP_UP, STARK_HYPPOCAMPUS_22Q11_DELETION_UP, GOBP_GLYCEROLIPID_METABOLIC_PROCESS

GO Biological Process (3): synaptic vesicle priming (GO:0016082), phosphatidylinositol phosphate biosynthetic process (GO:0046854), protein localization to plasma membrane (GO:0072659)

GO Molecular Function (0):

GO Cellular Component (6): cytosol (GO:0005829), plasma membrane (GO:0005886), presynapse (GO:0098793), glutamatergic synapse (GO:0098978), cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	4
synapse	2
synaptic vesicle exocytosis	1
protein-containing complex assembly	1
exocytic process	1
glycerophospholipid biosynthetic process	1
protein localization to membrane	1
protein localization to cell periphery	1
cytoplasm	1
membrane	1
cell periphery	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1180 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EFR3A	TTC7A	Q9ULT0	822
EFR3A	PI4KA	P42356	762
EFR3A	HYCC1	Q9BYI3	706
EFR3A	HYCC2	Q8IXS8	664
EFR3A	TTC7B	Q86TV6	630
EFR3A	TMEM150A	Q86TG1	543
EFR3A	OR6X1	Q8NH79	507
EFR3A	SYT6	Q5T7P8	478
EFR3A	PPP1R17	O96001	475
EFR3A	DOK6	Q6PKX4	462
EFR3A	PI4KB	P78405	453
EFR3A	SEMA3E	O15041	447
EFR3A	WDR90	Q96KV7	447
EFR3A	DOK4	Q8TEW6	437
EFR3A	KRTAP10-4	P60372	417

IntAct

53 interactions, top by confidence:

A	B	Type	Score
LPAR4	POTEF	psi-mi:“MI:0914”(association)	0.530
HOXB5	VPS37C	psi-mi:“MI:0914”(association)	0.530
GJB7	PALM3	psi-mi:“MI:0914”(association)	0.530
TIGD5	P4HA2	psi-mi:“MI:0914”(association)	0.530
NRAS	ESYT2	psi-mi:“MI:2364”(proximity)	0.480
Naa11		psi-mi:“MI:0914”(association)	0.350
Bag2		psi-mi:“MI:0914”(association)	0.350
ELL2	TIA1	psi-mi:“MI:0914”(association)	0.350
Sacm1l	COPE	psi-mi:“MI:0914”(association)	0.350
Gtf2b	POLR2B	psi-mi:“MI:0914”(association)	0.350
KIFAP3	TAF4	psi-mi:“MI:0914”(association)	0.350
BTBD8	HSPA8	psi-mi:“MI:0914”(association)	0.350
FBXO31	CCNQ	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ZDHHC5	HACD3	psi-mi:“MI:0914”(association)	0.350
ZBTB18	DNASE1L1	psi-mi:“MI:0914”(association)	0.350
PI4KA	EFR3A	psi-mi:“MI:0914”(association)	0.350
ATG16L1	ESYT2	psi-mi:“MI:0914”(association)	0.350
S100A2	PLEKHG3	psi-mi:“MI:0914”(association)	0.350
MAGEA3	PALM3	psi-mi:“MI:0914”(association)	0.350
CXorf1	RAP1BL	psi-mi:“MI:0914”(association)	0.350
PTH2R	METTL15	psi-mi:“MI:0914”(association)	0.350
SLC22A4	RTL8C	psi-mi:“MI:0914”(association)	0.350
AQP3	RTL8C	psi-mi:“MI:0914”(association)	0.350
MALL	GPR89A	psi-mi:“MI:0914”(association)	0.350
SDC1	ARVCF	psi-mi:“MI:0914”(association)	0.350
GAGE5	PPP1R12A	psi-mi:“MI:0914”(association)	0.350
UBE2V2	SVIL	psi-mi:“MI:0914”(association)	0.350
ARMS2	PRKCA	psi-mi:“MI:0914”(association)	0.350

BioGRID (144): EFR3A (Affinity Capture-MS), EFR3A (Affinity Capture-MS), EFR3A (Affinity Capture-MS), EFR3A (Affinity Capture-MS), EFR3A (Affinity Capture-MS), EFR3A (Affinity Capture-MS), EFR3A (Affinity Capture-MS), EFR3A (Affinity Capture-MS), EFR3A (Affinity Capture-MS), EFR3A (Affinity Capture-MS), EFR3A (Affinity Capture-MS), EFR3A (Proximity Label-MS), EFR3A (Proximity Label-MS), EFR3A (Affinity Capture-MS), EFR3A (Affinity Capture-MS)

ESM2 similar proteins: A0A571BF63, A0JMA8, A1A535, A1A5P5, A1ZBE8, A6H8H2, A8XSV3, B0BF33, B2RS91, E7F187, O17237, O43150, P25054, P30630, Q05B30, Q09263, Q14156, Q14738, Q14D04, Q19317, Q1AAU6, Q21106, Q2KI89, Q5PQS3, Q5R4N9, Q5R629, Q5RAY1, Q5SPP5, Q5U245, Q5VZ89, Q61315, Q61QK6, Q620W3, Q641A2, Q6ZQ18, Q7SIG6, Q7Z3E5, Q7Z401, Q7Z7A4, Q8BG67

Diamond homologs: Q09263, Q14156, Q5SPP5, Q620W3, Q641A2, Q6ZQ18, Q8BG67, Q8IGJ0, Q9Y2G0, Q6C8F7

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
EFR3A	“up-regulates quantity”	PI4KA	binding
EFR3A	“up-regulates quantity”	KRAS	binding

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
RAF/MAP kinase cascade	5	6.0×	1e-02

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	111
Likely benign	17
Benign	9

Top pathogenic / likely-pathogenic (0)

SpliceAI

4050 predictions. Top by Δscore:

Variant	Effect	Δscore
8:131940576:G:GG	donor_gain	1.0000
8:131944739:TTTTA:T	acceptor_loss	1.0000
8:131944740:TTTA:T	acceptor_loss	1.0000
8:131944741:TTAG:T	acceptor_loss	1.0000
8:131944742:TA:T	acceptor_loss	1.0000
8:131944743:A:AG	acceptor_gain	1.0000
8:131944743:AG:A	acceptor_gain	1.0000
8:131944743:AGGAT:A	acceptor_gain	1.0000
8:131944744:G:GG	acceptor_gain	1.0000
8:131944744:GG:G	acceptor_gain	1.0000
8:131944744:GGAT:G	acceptor_gain	1.0000
8:131944744:GGATG:G	acceptor_gain	1.0000
8:131944850:G:T	donor_gain	1.0000
8:131944870:TGGG:T	donor_loss	1.0000
8:131944871:GG:G	donor_gain	1.0000
8:131944872:GG:G	donor_gain	1.0000
8:131944873:G:C	donor_loss	1.0000
8:131944873:G:GG	donor_gain	1.0000
8:131944874:T:G	donor_loss	1.0000
8:131946477:AT:A	acceptor_gain	1.0000
8:131946478:T:G	acceptor_gain	1.0000
8:131946481:AG:A	acceptor_gain	1.0000
8:131946482:GG:G	acceptor_gain	1.0000
8:131946482:GGT:G	acceptor_gain	1.0000
8:131946482:GGTAT:G	acceptor_gain	1.0000
8:131946629:ATTCT:A	donor_gain	1.0000
8:131946630:TTCT:T	donor_gain	1.0000
8:131946631:TCT:T	donor_gain	1.0000
8:131946632:CT:C	donor_gain	1.0000
8:131946633:TG:T	donor_loss	1.0000

AlphaMissense

5445 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:131940556:T:A	I23K	1.000
8:131944776:T:C	L40S	1.000
8:131944776:T:G	L40W	1.000
8:131944781:T:C	F42L	1.000
8:131944783:T:A	F42L	1.000
8:131944783:T:G	F42L	1.000
8:131944809:T:C	L51P	1.000
8:131944821:G:A	G55D	1.000
8:131944830:T:C	L58P	1.000
8:131946518:T:C	L84P	1.000
8:131946521:T:C	L85P	1.000
8:131946569:T:C	L101P	1.000
8:131946587:T:C	L107P	1.000
8:131946590:T:C	L108P	1.000
8:131946622:G:A	G119R	1.000
8:131946622:G:C	G119R	1.000
8:131946623:G:A	G119E	1.000
8:131949969:T:C	F123L	1.000
8:131949971:T:A	F123L	1.000
8:131949971:T:G	F123L	1.000
8:131949978:T:C	F126L	1.000
8:131949979:T:C	F126S	1.000
8:131949979:T:G	F126C	1.000
8:131949980:T:A	F126L	1.000
8:131949980:T:G	F126L	1.000
8:131949981:G:C	A127P	1.000
8:131950041:T:C	F147L	1.000
8:131950043:C:A	F147L	1.000
8:131950043:C:G	F147L	1.000
8:131950055:C:G	C151W	1.000

dbSNP variants (sampled 300 via entrez): RS1000010424 (8:131935004 T>A), RS1000035937 (8:131982218 A>G), RS1000106299 (8:131937637 T>C), RS1000109436 (8:131963167 A>G), RS1000148439 (8:131992700 C>A,G,T), RS1000176069 (8:131915030 C>A), RS1000193653 (8:131964915 A>C,G), RS1000198698 (8:131913042 G>A), RS1000226708 (8:132008277 C>T), RS1000252131 (8:132002220 A>T), RS1000283193 (8:132001942 A>G), RS1000299628 (8:131956631 T>G), RS1000327912 (8:131909280 G>A,C), RS1000415153 (8:131952548 T>C), RS1000453485 (8:131957513 G>A)

Disease associations

OMIM: gene MIM:611798 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST001835_2	Response to cholinesterase inhibitors in Alzheimer’s disease	9.000000e-06
GCST002821_3	Survival in rectal cancer	2.000000e-06
GCST003171_3	Visceral adipose tissue	6.000000e-07
GCST004691_10	Huntington’s disease progression	3.000000e-06
GCST004749_21	Lung cancer in ever smokers	8.000000e-06
GCST006904_2	Cerebral amyloid deposition (PET imaging)	5.000000e-07
GCST010118_169	Type 2 diabetes	4.000000e-08
GCST012484_12	Cerebral amyloid angiopathy x APOEe4 status interaction in Alzheimer’s disease	3.000000e-06

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0005195	response to cholinesterase inhibitor
EFO:0000638	overall survival
EFO:0008336	disease progression measurement
EFO:0007707	cerebral amyloid deposition measurement
EFO:0007659	APOE carrier status

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs4736529	Efficacy	3	aspirin;clopidogrel	Acute coronary syndrome;Major Adverse Cardiac Events (MACE)

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs4736529	EFR3A	3	3.50	1	aspirin;clopidogrel

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, decreases methylation	6
bisphenol A	increases expression, affects cotreatment, decreases methylation, decreases expression	3
Acetaminophen	decreases expression, increases expression	2
Air Pollutants	decreases expression, increases abundance	2
Tobacco Smoke Pollution	decreases expression, increases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
2,4,6-tribromophenol	decreases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
decabromobiphenyl ether	increases expression	1
trichostatin A	affects expression	1
arsenite	affects binding, decreases reaction	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
epigallocatechin gallate	decreases expression, affects cotreatment	1
entinostat	increases expression	1
abrine	decreases expression	1
hexabrominated diphenyl ether 153	decreases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Fulvestrant	decreases methylation, affects cotreatment	1
Caffeine	decreases phosphorylation	1
Carbamazepine	affects expression	1
Estradiol	increases reaction, affects binding	1
Indomethacin	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Smoke	decreases expression, increases abundance	1
Tretinoin	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SL48	HAP1 EFR3A (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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