EXOG

Summary

EXOG (exo/endonuclease G, HGNC:3347) is a protein-coding gene on chromosome 3p22.2, encoding Nuclease EXOG, mitochondrial (Q9Y2C4). Endo/exonuclease with nicking activity towards supercoiled DNA, a preference for single-stranded DNA and 5’-3’ exonuclease activity.

This gene encodes an endo/exonuclease with 5’-3’ exonuclease activity. The encoded enzyme catalyzes the hydrolysis of ester linkages at the 5’ end of a nucleic acid chain. This enzyme is localized to the mitochondria and may play a role in programmed cell death. Alternatively spliced transcript variants have been described. A pseudogene exists on chromosome 18.

Source: NCBI Gene 9941 — RefSeq curated summary.

At a glance

• GWAS associations: 21
• Clinical variants (ClinVar): 71 total
• MANE Select transcript: NM_005107

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3347
Approved symbol	EXOG
Name	exo/endonuclease G
Location	3p22.2
Locus type	gene with protein product
Status	Approved
Aliases	ENGL-a, ENGL, ENGL-b
Ensembl gene	ENSG00000157036
Ensembl biotype	protein_coding
OMIM	604051
Entrez	9941

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 10 nonsense_mediated_decay, 8 protein_coding, 3 retained_intron

ENST00000287675, ENST00000412107, ENST00000422077, ENST00000431472, ENST00000436414, ENST00000438992, ENST00000443942, ENST00000447573, ENST00000450732, ENST00000453767, ENST00000454803, ENST00000457367, ENST00000470291, ENST00000474071, ENST00000483749, ENST00000489813, ENST00000630638, ENST00000899406, ENST00000940163, ENST00000940164, ENST00000949412

RefSeq mRNA: 2 — MANE Select: NM_005107 NM_001145464, NM_005107

CCDS: CCDS2680, CCDS46795

Canonical transcript exons

ENST00000287675 — 6 exons

Exon	Start	End
ENSE00001330730	38523901	38526303
ENSE00001603412	38496340	38496530
ENSE00003463622	38503615	38503691
ENSE00003464591	38506854	38506968
ENSE00003496039	38497629	38497778
ENSE00003613449	38501355	38501494

Expression profiles

Bgee: expression breadth ubiquitous, 246 present calls, max score 96.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.7207 / max 70.5744, expressed in 1758 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
36108	8.1386	1724
36109	1.5821	954

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
buccal mucosa cell	CL:0002336	96.91	silver quality
apex of heart	UBERON:0002098	93.06	gold quality
tendon of biceps brachii	UBERON:0008188	91.61	gold quality
heart left ventricle	UBERON:0002084	89.27	gold quality
cardiac ventricle	UBERON:0002082	88.73	gold quality
right atrium auricular region	UBERON:0006631	87.34	gold quality
heart	UBERON:0000948	86.77	gold quality
cardiac atrium	UBERON:0002081	86.49	gold quality
colonic epithelium	UBERON:0000397	83.90	gold quality
stromal cell of endometrium	CL:0002255	83.53	gold quality
right adrenal gland cortex	UBERON:0035827	82.48	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	82.36	gold quality
right adrenal gland	UBERON:0001233	82.01	gold quality
rectum	UBERON:0001052	81.93	gold quality
hindlimb stylopod muscle	UBERON:0004252	81.88	gold quality
cortical plate	UBERON:0005343	81.86	gold quality
right lobe of thyroid gland	UBERON:0001119	81.85	gold quality
left ventricle myocardium	UBERON:0006566	81.83	gold quality
tendon	UBERON:0000043	81.79	gold quality
smooth muscle tissue	UBERON:0001135	81.69	gold quality
lower esophagus muscularis layer	UBERON:0035833	81.41	gold quality
ganglionic eminence	UBERON:0004023	81.40	gold quality
body of uterus	UBERON:0009853	81.37	gold quality
mucosa of stomach	UBERON:0001199	81.33	gold quality
lower esophagus	UBERON:0013473	81.33	gold quality
sural nerve	UBERON:0015488	81.30	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.22	gold quality
metanephros cortex	UBERON:0010533	81.16	gold quality
left adrenal gland	UBERON:0001234	81.05	gold quality
left adrenal gland cortex	UBERON:0035825	80.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

72 targeting EXOG, 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-200B-3P	100.00	73.31	2693
HSA-MIR-200C-3P	100.00	73.35	2685
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-6744-5P	99.93	66.82	748
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-548E-5P	99.89	72.73	4486
HSA-MIR-8062	99.88	68.43	995
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-1200	99.71	70.42	1838
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-3975	99.62	65.97	697
HSA-MIR-24-3P	99.59	69.97	1934
HSA-MIR-425-5P	99.59	67.67	900
HSA-MIR-451B	99.55	68.28	1380
HSA-MIR-888-3P	99.53	69.77	1057
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-578	99.46	68.36	1787
HSA-MIR-3612	99.45	66.02	1333
HSA-MIR-650	99.45	65.77	1309
HSA-MIR-942-5P	99.41	68.40	1977

Literature-anchored findings (GeneRIF, showing 8)

• ENDOGL1 is a candidate disease-susceptibility gene for type 2 diabetes in a Japanese population (PMID:17415550)
• Human endonuclease G-like-1 is a dimeric mitochondrial enzyme that displays 5’-3’ exonuclease activity and further differs from EndoG in substrate specificity (PMID:18187503)
• EXOG depletion induces persistent SSBs in the mtDNA, enhances ROS levels, and causes apoptosis in normal cells but not in mt genome-deficient rho0 cells. (PMID:21768646)
• These data indicate that HSV-1 UL12.5 deploys cellular proteins, including ENDOG and EXOG, to destroy mtDNA and contribute to a growing body of literature highlighting roles for ENDOG and EXOG in mtDNA maintenance. (PMID:23986585)
• Data suggest a role of exo/endonuclease G nuclease (hEXOG) in pathway for mitochondrial DNA repair. (PMID:28466855)
• ExoG has a role as a unique 5’-exonuclease to mediate the flap-independent RNA primer removal process during mtDNA replication to maintain mitochondrial genome integrity (PMID:30949702)
• In vitro reconstitution reveals a key role of human mitochondrial EXOG in RNA primer processing. (PMID:35819194)
• Human EXOG Possesses Strong AP Hydrolysis Activity: Implication on Mitochondrial DNA Base Excision Repair. (PMID:36516439)

Cross-species orthologs

10 orthologs

Organism	Symbol	Gene ID
mus_musculus	Exog	ENSMUSG00000042787
rattus_norvegicus	Exog	ENSRNOG00000014801
drosophila_melanogaster	CG12917	FBGN0033490
drosophila_melanogaster	CG14120	FBGN0036321
drosophila_melanogaster	CG14118	FBGN0036323
drosophila_melanogaster	CG6839	FBGN0036831
drosophila_melanogaster	CG3819	FBGN0036833
drosophila_melanogaster	CG14062	FBGN0039592
drosophila_melanogaster	Sid	FBGN0039593
drosophila_melanogaster	CG33346	FBGN0053346

Paralogs (1): ENDOG (ENSG00000167136)

Protein

Protein identifiers

Nuclease EXOG, mitochondrial — Q9Y2C4 (reviewed: Q9Y2C4)

Alternative names: Endonuclease G-like 1

All UniProt accessions (9): Q9Y2C4, F2Z2D3, F8WC11, F8WE28, F8WE38, F8WEP0, H0Y8P1, H7C0W6, H7C451

UniProt curated annotations — full annotation on UniProt →

Function. Endo/exonuclease with nicking activity towards supercoiled DNA, a preference for single-stranded DNA and 5’-3’ exonuclease activity.

Subunit / interactions. Homodimer.

Subcellular location. Mitochondrion inner membrane.

Tissue specificity. Ubiquitous.

Miscellaneous. The active site contains 1 hydrated divalent metal cation that has only 1 direct interaction with the protein; all other interactions are via water molecules. Probably inactive since it lacks the active site. Probably inactive since it lacks the active site.

Similarity. Belongs to the DNA/RNA non-specific endonuclease family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9Y2C4-1	1, ENGL-a	yes
Q9Y2C4-2	2, ENDOGL2, ENGL-b
Q9Y2C4-3	3
Q9Y2C4-4	4

RefSeq proteins (2): NP_001138936, NP_005098* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001604	Endo_G_ENPP1-like_dom	Domain
IPR020821	ENPP1-3/EXOG-like_nuc-like	Domain
IPR040255	Non-specific_endonuclease	Family
IPR041003	Exog_C	Domain
IPR044925	His-Me_finger_sf	Homologous_superfamily
IPR044929	DNA/RNA_non-sp_Endonuclease_sf	Homologous_superfamily

Pfam: PF01223, PF18026

UniProt features (48 total): strand 16, helix 15, turn 5, splice variant 4, mutagenesis site 2, transit peptide 1, chain 1, sequence conflict 1, active site 1, binding site 1, sequence variant 1

Structure

Experimental structures (PDB)

11 structures.

PDB	Method	Resolution (Å)
9FXN	X-RAY DIFFRACTION	1.62
5T40	X-RAY DIFFRACTION	1.81
5T5C	X-RAY DIFFRACTION	1.85
7R6V	X-RAY DIFFRACTION	2.16
5ZKI	X-RAY DIFFRACTION	2.32
5T4I	X-RAY DIFFRACTION	2.39
5T3V	X-RAY DIFFRACTION	2.6
5ZKJ	X-RAY DIFFRACTION	2.8
4A1N	X-RAY DIFFRACTION	2.8
7R6T	X-RAY DIFFRACTION	2.9
6IID	X-RAY DIFFRACTION	2.99

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2C4-F1	89.04	0.83

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): 140 (proton acceptor)

Ligand- & substrate-binding residues (1): 171

Mutagenesis-validated functional residues (2):

Position	Phenotype
140	abolishes catalytic activity.
137	no effect on catalytic activity.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9913635	Strand-asynchronous mitochondrial DNA replication

MSigDB gene sets: 105 (showing top): REACTOME_DNA_REPLICATION, SHEPARD_BMYB_MORPHOLINO_UP, GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOMF_NUCLEASE_ACTIVITY, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_DNA_CATABOLIC_PROCESS, PUJANA_CHEK2_PCC_NETWORK, GOMF_RNA_ENDONUCLEASE_ACTIVITY, GOCC_MITOCHONDRIAL_ENVELOPE, chr3p22, GOMF_EXONUCLEASE_ACTIVITY, GOBP_APOPTOTIC_DNA_FRAGMENTATION, GOBP_EXECUTION_PHASE_OF_APOPTOSIS

GO Biological Process (1): apoptotic DNA fragmentation (GO:0006309)

GO Molecular Function (9): single-stranded DNA endonuclease activity (GO:0000014), nucleic acid binding (GO:0003676), endonuclease activity (GO:0004519), RNA endonuclease activity (GO:0004521), 5’-3’ exonuclease activity (GO:0008409), metal ion binding (GO:0046872), nuclease activity (GO:0004518), protein binding (GO:0005515), hydrolase activity (GO:0016787)

GO Cellular Component (6): nucleus (GO:0005634), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), mitochondrial matrix (GO:0005759), protein-containing complex (GO:0032991), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
DNA Replication	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
binding	2
intracellular membrane-bounded organelle	2
DNA catabolic process	1
apoptotic nuclear changes	1
DNA endonuclease activity	1
hydrolase activity, acting on ester bonds	1
nuclease activity	1
endonuclease activity	1
RNA nuclease activity	1
exonuclease activity	1
cation binding	1
catalytic activity, acting on a nucleic acid	1
catalytic activity	1
cytoplasm	1
organelle inner membrane	1
mitochondrial membrane	1
mitochondrion	1
intracellular organelle lumen	1
cellular_component	1
cellular anatomical structure	1

Protein interactions and networks

STRING

632 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EXOG	FEN1	P39748	708
EXOG	POLG	P54098	675
EXOG	MGME1	Q9BQP7	651
EXOG	DNA2	P51530	648
EXOG	LIG3	P49916	581
EXOG	APEX1	P27695	552
EXOG	UNG	P13051	537
EXOG	ACVR2B	Q13705	495
EXOG	TDP1	Q9NUW8	463
EXOG	CEBPZOS	A8MTT3	461
EXOG	ATP1A4	Q13733	427
EXOG	SERAC1	Q96JX3	418
EXOG	TFAM	Q00059	413
EXOG	OGG1	P78554	410
EXOG	SSBP1	Q04837	388

IntAct

77 interactions, top by confidence:

A	B	Type	Score
LAMTOR1	LAMTOR5	psi-mi:“MI:0914”(association)	0.870
EIF2B1	EIF2B2	psi-mi:“MI:0914”(association)	0.860
RIN1	NRAS	psi-mi:“MI:0914”(association)	0.840
TRDN	TMEM223	psi-mi:“MI:0914”(association)	0.640
RANBP6	SLC27A2	psi-mi:“MI:0914”(association)	0.640
EIF2B2	SLC27A2	psi-mi:“MI:0914”(association)	0.640
VSIG1	TTI1	psi-mi:“MI:0914”(association)	0.640
CHCHD4	SSNA1	psi-mi:“MI:0914”(association)	0.640
BZW2	ENDOD1	psi-mi:“MI:0914”(association)	0.640
BZW2	MUL1	psi-mi:“MI:0914”(association)	0.640
BZW2	SLC27A2	psi-mi:“MI:0914”(association)	0.530
PEX19	FAM20B	psi-mi:“MI:0914”(association)	0.530
RIPPLY2	TLE2	psi-mi:“MI:0914”(association)	0.530
CXCR4	TMEM120B	psi-mi:“MI:0914”(association)	0.530
PBXIP1	GOLIM4	psi-mi:“MI:0914”(association)	0.530
VSIG1	TNPO2	psi-mi:“MI:0914”(association)	0.530
HEATR3	SLC27A2	psi-mi:“MI:0914”(association)	0.530
PBXIP1	KCNN4	psi-mi:“MI:0914”(association)	0.530
PEX19	MYO1D	psi-mi:“MI:0914”(association)	0.530
NHLH2	AP3B1	psi-mi:“MI:0914”(association)	0.530
EXOG	H3-4	psi-mi:“MI:0915”(physical association)	0.400
EXOG	ZER1	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (73): EXOG (Affinity Capture-MS), EXOG (Affinity Capture-MS), EXOG (Affinity Capture-MS), EXOG (Affinity Capture-MS), EXOG (Affinity Capture-MS), EXOG (Affinity Capture-MS), EXOG (Affinity Capture-MS), EXOG (Affinity Capture-MS), EXOG (Affinity Capture-MS), EXOG (Affinity Capture-MS), EXOG (Affinity Capture-MS), EXOG (Affinity Capture-MS), EXOG (Affinity Capture-MS), EXOG (Affinity Capture-MS), EXOG (Affinity Capture-MS)

ESM2 similar proteins: D3ZU57, O08600, O09127, O15197, O19179, O43323, O88941, P08466, P0C0K6, P21709, P23377, P26640, P28339, P28340, P29322, P38447, P51840, P52785, P54760, P54761, P55203, P81203, P81204, Q00653, Q02846, Q08DH8, Q0IH72, Q10480, Q13724, Q14249, Q1HG60, Q2KIF8, Q3U6U5, Q502K1, Q60HD0, Q61488, Q69ZQ1, Q6NSJ0, Q6P1J0, Q80SX8

Diamond homologs: O08600, P08466, P38446, P38447, P81203, P81204, Q0IH72, Q10480, Q14249, Q502K1, Q8C163, Q95NM6, Q9Y2C4

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	57
Likely benign	2
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

1506 predictions. Top by Δscore:

Variant	Effect	Δscore
3:38501475:GAAA:G	donor_gain	1.0000
3:38501476:A:T	donor_gain	1.0000
3:38501493:GT:G	donor_gain	1.0000
3:38503613:A:AG	acceptor_gain	1.0000
3:38503614:G:GG	acceptor_gain	1.0000
3:38503614:GAAA:G	acceptor_gain	1.0000
3:38505372:G:GT	donor_gain	1.0000
3:38506849:TTCA:T	acceptor_loss	1.0000
3:38506851:CA:C	acceptor_loss	1.0000
3:38506852:A:AG	acceptor_gain	1.0000
3:38506853:G:GG	acceptor_gain	1.0000
3:38506853:G:GT	acceptor_loss	1.0000
3:38506853:GA:G	acceptor_gain	1.0000
3:38506853:GAAT:G	acceptor_gain	1.0000
3:38506853:GAATA:G	acceptor_gain	1.0000
3:38506964:ACCAG:A	donor_loss	1.0000
3:38506968:GGTA:G	donor_loss	1.0000
3:38506969:GT:G	donor_loss	1.0000
3:38506970:T:A	donor_loss	1.0000
3:38523895:TTTTA:T	acceptor_loss	1.0000
3:38523896:TTTA:T	acceptor_loss	1.0000
3:38523898:TAGGT:T	acceptor_loss	1.0000
3:38523899:A:AG	acceptor_gain	1.0000
3:38523899:AGGT:A	acceptor_gain	1.0000
3:38523900:G:GG	acceptor_gain	1.0000
3:38523900:GGT:G	acceptor_gain	1.0000
3:38523900:GGTG:G	acceptor_gain	1.0000
3:38496517:G:T	donor_gain	0.9900
3:38496526:GGATG:G	donor_gain	0.9900
3:38496527:GATG:G	donor_gain	0.9900

AlphaMissense

2406 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:38501381:T:C	F114L	0.999
3:38501383:T:A	F114L	0.999
3:38501383:T:G	F114L	0.999
3:38503633:T:C	F158L	0.999
3:38503635:T:A	F158L	0.999
3:38503635:T:G	F158L	0.999
3:38503647:C:A	N162K	0.998
3:38503647:C:G	N162K	0.998
3:38503684:T:A	W175R	0.998
3:38503684:T:C	W175R	0.998
3:38503686:G:C	W175C	0.997
3:38503686:G:T	W175C	0.997
3:38506871:G:C	R183P	0.997
3:38497742:T:A	W93R	0.996
3:38497742:T:C	W93R	0.996
3:38501367:G:C	R109T	0.996
3:38501368:A:C	R109S	0.996
3:38501368:A:T	R109S	0.996
3:38501459:C:G	H140D	0.996
3:38503655:C:A	P165H	0.996
3:38506859:A:T	E179V	0.996
3:38506860:A:C	E179D	0.996
3:38506860:A:T	E179D	0.996
3:38523926:T:A	V224D	0.996
3:38497737:C:A	P91H	0.995
3:38501382:T:C	F114S	0.995
3:38501382:T:G	F114C	0.995
3:38501461:C:A	H140Q	0.995
3:38501461:C:G	H140Q	0.995
3:38503674:T:A	N171K	0.995

dbSNP variants (sampled 300 via entrez): RS1000037963 (3:38507385 G>C), RS1000399044 (3:38503463 A>C), RS1000594575 (3:38522109 A>G), RS1000742365 (3:38495788 C>T), RS1000778515 (3:38515505 G>A,C), RS1000786067 (3:38508688 C>A,T), RS1000797219 (3:38494351 C>G,T), RS1001015856 (3:38502090 T>C), RS1001153098 (3:38495299 A>G), RS1001282027 (3:38504307 A>T), RS1001301252 (3:38497314 T>A,C,G), RS1001343259 (3:38519870 A>T), RS1001529384 (3:38502237 T>A), RS1001693629 (3:38521845 C>T), RS1001701437 (3:38522516 T>A,C)

Disease associations

OMIM: gene MIM:604051 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

21 associations (top):

Study	Trait	p-value
GCST002457_2	P wave duration	8.000000e-27
GCST002533_6	QRS duration	2.000000e-06
GCST002535_3	PR interval	1.000000e-14
GCST003598_24	QRS duration	3.000000e-23
GCST007328_75	Alcohol consumption (drinks per week)	7.000000e-09
GCST008059_65	Estimated glomerular filtration rate	7.000000e-24
GCST010796_3766	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-08
GCST010796_3767	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-09
GCST010796_3768	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-10
GCST010796_3769	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-11
GCST010796_3770	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-11
GCST010796_3771	Electrocardiogram morphology (amplitude at temporal datapoints)	3.000000e-11
GCST010796_3772	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-11
GCST010796_3773	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-11
GCST010796_3774	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-10
GCST010796_3775	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-10
GCST010796_3851	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-10
GCST010796_3852	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_3853	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-08
GCST010796_3854	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-11
GCST90000025_733	Appendicular lean mass	1.000000e-21

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005094	P wave duration
EFO:0004462	PR interval
EFO:0004327	electrocardiography
EFO:0004980	appendicular lean mass

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression	2
triphenyl phosphate	affects expression	1
trichostatin A	decreases expression	1
beta-lapachone	increases expression	1
cobaltous chloride	decreases expression	1
benzo(e)pyrene	decreases methylation	1
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	decreases expression	1
Arsenic Trioxide	increases expression	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Cisplatin	increases expression	1
Cytarabine	decreases expression	1
Dichlorodiphenyl Dichloroethylene	increases expression	1
Demecolcine	decreases expression	1
Doxorubicin	decreases expression	1
Methapyrilene	decreases methylation	1
Methyl Methanesulfonate	increases expression	1
Nickel	increases expression	1
Niclosamide	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Silicon Dioxide	decreases expression	1
Silver	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Vincristine	decreases expression	1
Sodium Selenite	decreases expression	1
Antirheumatic Agents	increases expression	1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_DX16	HAP1 EXOG (-) 1	Cancer cell line	Male
CVCL_DX17	HAP1 EXOG (-) 2	Cancer cell line	Male
CVCL_DX18	HAP1 EXOG (-) 4	Cancer cell line	Male
CVCL_DX19	HAP1 EXOG (-) 5	Cancer cell line	Male
CVCL_XN59	HAP1 EXOG (-) 3	Cancer cell line	Male

Clinical trials (associated diseases)

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