INTS7

Summary

INTS7 (integrator complex subunit 7, HGNC:24484) is a protein-coding gene on chromosome 1q32.3, encoding Integrator complex subunit 7 (Q9NVH2). Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes. It is a common-essential gene (DepMap: required in 98.8% of cancer cell lines).

This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3’-end processing of the small nuclear RNAs U1 and U2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Source: NCBI Gene 25896 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 132 total
• Cancer dependency (DepMap): dependent in 98.8% of screened cell lines (common-essential)
• MANE Select transcript: NM_015434

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:24484
Approved symbol	INTS7
Name	integrator complex subunit 7
Location	1q32.3
Locus type	gene with protein product
Status	Approved
Aliases	DKFZP434B168, INT7
Ensembl gene	ENSG00000143493
Ensembl biotype	protein_coding
OMIM	611350
Entrez	25896

Gene structure

Transcript identifiers

Ensembl transcripts: 21 — 15 protein_coding, 3 retained_intron, 3 nonsense_mediated_decay

ENST00000366992, ENST00000366993, ENST00000366994, ENST00000440600, ENST00000460867, ENST00000461212, ENST00000462910, ENST00000469606, ENST00000475798, ENST00000612340, ENST00000619805, ENST00000871698, ENST00000871699, ENST00000871700, ENST00000917898, ENST00000917899, ENST00000917900, ENST00000917901, ENST00000917902, ENST00000917903, ENST00000967518

RefSeq mRNA: 4 — MANE Select: NM_015434 NM_001199809, NM_001199811, NM_001199812, NM_015434

CCDS: CCDS1501, CCDS55683, CCDS55684, CCDS55685

Canonical transcript exons

ENST00000366994 — 20 exons

Exon	Start	End
ENSE00001443195	212035344	212035557
ENSE00001887381	211940403	211942111
ENSE00003468681	211946607	211946705
ENSE00003484466	212011375	212011421
ENSE00003490427	211952569	211952701
ENSE00003516066	211944784	211944969
ENSE00003522294	212007250	212007449
ENSE00003552093	212020122	212020268
ENSE00003567703	211975166	211975372
ENSE00003570647	211968513	211968707
ENSE00003579087	212006639	212006761
ENSE00003579205	211978272	211978511
ENSE00003616579	211981093	211981190
ENSE00003632182	211982676	211982810
ENSE00003645181	211966430	211966498
ENSE00003646245	211987886	211988003
ENSE00003675756	211976582	211976719
ENSE00003682963	212021083	212021212
ENSE00003684164	211967878	211967981
ENSE00003689221	212016886	212017023

Expression profiles

Bgee: expression breadth ubiquitous, 245 present calls, max score 89.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 8.8108 / max 185.4348, expressed in 1700 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
17370	8.8108	1700

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	89.92	gold quality
sperm	CL:0000019	89.75	gold quality
cortical plate	UBERON:0005343	89.62	gold quality
ventricular zone	UBERON:0003053	89.17	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.16	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	88.75	gold quality
male germ cell	CL:0000015	87.52	gold quality
right testis	UBERON:0004534	87.19	gold quality
left testis	UBERON:0004533	87.17	gold quality
testis	UBERON:0000473	86.97	gold quality
islet of Langerhans	UBERON:0000006	85.39	gold quality
right lobe of liver	UBERON:0001114	84.20	gold quality
adrenal tissue	UBERON:0018303	84.04	gold quality
lower esophagus mucosa	UBERON:0035834	84.00	gold quality
mucosa of transverse colon	UBERON:0004991	83.33	gold quality
oocyte	CL:0000023	82.78	gold quality
embryo	UBERON:0000922	82.07	gold quality
secondary oocyte	CL:0000655	82.05	gold quality
esophagus mucosa	UBERON:0002469	81.75	gold quality
rectum	UBERON:0001052	81.62	gold quality
endothelial cell	CL:0000115	81.20	silver quality
stromal cell of endometrium	CL:0002255	80.92	gold quality
granulocyte	CL:0000094	80.68	gold quality
leukocyte	CL:0000738	80.58	gold quality
monocyte	CL:0000576	80.53	gold quality
mononuclear cell	CL:0000842	80.41	gold quality
pancreas	UBERON:0001264	80.33	gold quality
lymph node	UBERON:0000029	79.64	gold quality
right adrenal gland cortex	UBERON:0035827	79.55	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	79.54	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.09
E-MTAB-4850	no	913.35

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): MYB, MYBL2, MYC, TP53

miRNA regulators (miRDB)

56 targeting INTS7, 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-3646	100.00	73.56	5283
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-6778-3P	99.96	67.29	2693
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-323A-3P	99.79	70.30	1739
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-4517	99.76	69.19	1867
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-4261	99.59	70.30	3415
HSA-MIR-4276	99.56	67.66	2514
HSA-MIR-1252-3P	99.55	67.71	2862
HSA-MIR-892A	99.54	68.16	1141
HSA-MIR-7159-3P	99.51	70.17	1920
HSA-MIR-3128	99.50	67.85	1258
HSA-MIR-3171	99.49	69.06	776

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 98.8% of screened cell lines, common-essential.

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	ints7	ENSDARG00000019300
mus_musculus	Ints7	ENSMUSG00000037461
rattus_norvegicus	Ints7	ENSRNOG00000004263
drosophila_melanogaster	defl	FBGN0036038
caenorhabditis_elegans		WBGENE00008361

Protein

Protein identifiers

Integrator complex subunit 7 — Q9NVH2 (reviewed: Q9NVH2)

All UniProt accessions (5): Q9NVH2, A0A087WXK3, A0A087WYC2, A0A087X0F3, A0A087X1Q0

UniProt curated annotations — full annotation on UniProt →

Function. Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes. The integrator complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the complex terminates transcription by (1) catalyzing dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, (2) degrading the exiting nascent RNA transcript via endonuclease activity and (3) promoting the release of Pol II from bound DNA. The integrator complex is also involved in terminating the synthesis of non-coding Pol II transcripts, such as enhancer RNAs (eRNAs), small nuclear RNAs (snRNAs), telomerase RNAs and long non-coding RNAs (lncRNAs). May be not involved in the recruitment of cytoplasmic dynein to the nuclear envelope by different components of the INT complex. Plays a role in DNA damage response (DDR) signaling during the S phase.

Subunit / interactions. Component of the Integrator complex, composed of core subunits INTS1, INTS2, INTS3, INTS4, INTS5, INTS6, INTS7, INTS8, INTS9/RC74, INTS10, INTS11/CPSF3L, INTS12, INTS13, INTS14 and INTS15. The core complex associates with protein phosphatase 2A subunits PPP2CA and PPP2R1A, to form the Integrator-PP2A (INTAC) complex. Interacts with NABP2.

Subcellular location. Nucleus. Chromosome. Cytoplasm.

Similarity. Belongs to the Integrator subunit 7 family.

Isoforms (4)

UniProt ID	Names	Canonical?
Q9NVH2-1	1	yes
Q9NVH2-2	2
Q9NVH2-3	3
Q9NVH2-4	4

RefSeq proteins (4): NP_001186738, NP_001186740, NP_001186741, NP_056249* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR016024	ARM-type_fold	Homologous_superfamily
IPR033060	INTS7	Family
IPR054519	INTS7_C	Domain
IPR056516	INTS7_N	Domain
IPR056517	INTS7_HB	Domain

Pfam: PF22965, PF24436, PF24437

UniProt features (74 total): helix 48, strand 12, turn 6, splice variant 3, modified residue 2, chain 1, sequence variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
8RC4	ELECTRON MICROSCOPY	3.1
7CUN	ELECTRON MICROSCOPY	3.5
7PKS	ELECTRON MICROSCOPY	3.6
8RBZ	ELECTRON MICROSCOPY	3.7
8RBX	ELECTRON MICROSCOPY	4.1
8YJB	ELECTRON MICROSCOPY	4.1
7YCX	ELECTRON MICROSCOPY	4.18
9VD9	ELECTRON MICROSCOPY	4.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NVH2-F1	88.17	0.71

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): 338, 809

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6807505	RNA polymerase II transcribes snRNA genes
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)

MSigDB gene sets: 204 (showing top): E2F_Q4, MODULE_97, E2F_Q4_01, GOBP_RESPONSE_TO_IONIZING_RADIATION, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, BOYAULT_LIVER_CANCER_SUBCLASS_G2, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, MATTIOLI_MGUS_VS_PCL, GOBP_CELL_CYCLE_PHASE_TRANSITION, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, MODULE_182, MODULE_308, PATIL_LIVER_CANCER

GO Biological Process (7): DNA damage checkpoint signaling (GO:0000077), snRNA processing (GO:0016180), regulation of transcription elongation by RNA polymerase II (GO:0034243), snRNA 3’-end processing (GO:0034472), cellular response to ionizing radiation (GO:0071479), RNA polymerase II transcription initiation surveillance (GO:0160240), DNA damage response (GO:0006974)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), chromosome (GO:0005694), cytoplasm (GO:0005737), nuclear body (GO:0016604), integrator complex (GO:0032039), INTAC complex (GO:0160232)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
RNA Polymerase II Transcription	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
intracellular membraneless organelle	2
nuclear protein-containing complex	2
DNA integrity checkpoint signaling	1
signal transduction in response to DNA damage	1
RNA processing	1
snRNA metabolic process	1
transcription elongation by RNA polymerase II	1
regulation of DNA-templated transcription elongation	1
snRNA processing	1
RNA 3’-end processing	1
response to ionizing radiation	1
cellular response to radiation	1
transcription initiation at RNA polymerase II promoter	1
nuclear RNA surveillance	1
cellular response to stress	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
nucleoplasm	1
integrator complex	1

Protein interactions and networks

STRING

974 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
INTS7	INTS5	Q6P9B9	969
INTS7	INTS11	Q5TA45	962
INTS7	INTS8	Q75QN2	947
INTS7	INTS9	Q9NV88	893
INTS7	INTS10	Q9NVR2	886
INTS7	INTS12	Q96CB8	879
INTS7	INTS4	Q96HW7	843
INTS7	INTS1	Q8N201	823
INTS7	INTS6	Q9UL03	820
INTS7	INTS3	Q68E01	718
INTS7	INTS2	Q9H0H0	713
INTS7	INTS13	Q9NVM9	606
INTS7	POLR2A	P24928	604
INTS7	INTS14	Q96SY0	555
INTS7	CPSF3	Q9UKF6	460

IntAct

91 interactions, top by confidence:

A	B	Type	Score
PPP2R1A	STRN	psi-mi:“MI:0914”(association)	0.880
INTS10	INTS11	psi-mi:“MI:0915”(physical association)	0.740
INTS13	INTS11	psi-mi:“MI:0914”(association)	0.690
FAF2	UBB	psi-mi:“MI:0914”(association)	0.640
CA8	INTS7	psi-mi:“MI:0915”(physical association)	0.560
SUPT5H	POLR2D	psi-mi:“MI:0914”(association)	0.530
TMEM9	ESYT2	psi-mi:“MI:0914”(association)	0.530
TOR1AIP2	TMEM223	psi-mi:“MI:0914”(association)	0.530
HLA-DPA1	TYW5	psi-mi:“MI:0914”(association)	0.530
VSIG4	TCAF2	psi-mi:“MI:0914”(association)	0.530
PDCD1	RTL8C	psi-mi:“MI:0914”(association)	0.530
CD226	MEN1	psi-mi:“MI:0914”(association)	0.530
PALD1	UNC119B	psi-mi:“MI:0914”(association)	0.530
VSIG1	TNPO2	psi-mi:“MI:0914”(association)	0.530
SCN3B	ABCC5	psi-mi:“MI:0914”(association)	0.530
TNFRSF17	TSPAN6	psi-mi:“MI:0914”(association)	0.530
MGRN1	ATRN	psi-mi:“MI:0914”(association)	0.530
TNFSF8	LGALS8	psi-mi:“MI:0914”(association)	0.530
NTRK3	FAM171A2	psi-mi:“MI:0914”(association)	0.480
PPP2CA	SMCO3	psi-mi:“MI:0914”(association)	0.420
STING1	AGPAT2	psi-mi:“MI:0914”(association)	0.350
STING1	GRIPAP1	psi-mi:“MI:0914”(association)	0.350
STING1	ZSWIM8	psi-mi:“MI:0914”(association)	0.350
MKI67	ARHGAP10	psi-mi:“MI:0914”(association)	0.350
TANK	CNOT1	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350

BioGRID (159): INTS7 (Affinity Capture-Western), INTS7 (Affinity Capture-MS), INTS7 (Affinity Capture-MS), INTS7 (Affinity Capture-MS), INTS7 (Affinity Capture-MS), INTS7 (Affinity Capture-MS), INTS7 (Affinity Capture-MS), INTS7 (Affinity Capture-MS), INTS7 (Affinity Capture-MS), INTS7 (Affinity Capture-MS), INTS7 (Affinity Capture-MS), C7orf26 (Co-fractionation), CPSF3L (Co-fractionation), INTS2 (Co-fractionation), INTS5 (Co-fractionation)

ESM2 similar proteins: A1A4I9, A5D796, A5PJZ5, A7S2N8, A9ULY7, B0F9L4, B2GV24, F4HQ84, F4IDS7, O60308, O75694, O75717, O94874, P32780, P37199, P59328, Q14CX7, Q1RMS6, Q28HX4, Q4R367, Q5R822, Q5RBW9, Q5ZL91, Q5ZMG1, Q66HC5, Q6DDM4, Q6NX12, Q6P3X3, Q6PGY6, Q7TQK1, Q7ZU29, Q7ZX96, Q8BGQ1, Q8BJ71, Q8BWZ3, Q8CCJ3, Q8JGR7, Q8N1F7, Q8R3N6, Q8WVM7

Diamond homologs: Q1RMS6, Q5ZL91, Q7TQK1, Q8JGR7, Q9NVH2, Q9VT41, Q54PL2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
INTS7	“form complex”	“Integrator complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 143 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
FGFR2 mutant receptor activation	5	44.8×	3e-06
Signaling by FGFR2 IIIa TM	6	42.4×	4e-07
Abortive elongation of HIV-1 transcript in the absence of Tat	6	35.0×	1e-06
Pausing and recovery of Tat-mediated HIV elongation	7	30.3×	4e-07
Tat-mediated HIV elongation arrest and recovery	7	30.3×	4e-07
RNA Pol II CTD phosphorylation and interaction with CE during HIV infection	6	28.8×	2e-06
Signaling by FGFR2	6	28.8×	2e-06
RNA Pol II CTD phosphorylation and interaction with CE	6	28.8×	2e-06

GO biological processes:

GO term	Partners	Fold	FDR
RNA polymerase II transcription initiation surveillance	5	34.9×	2e-04
adaptive immune response	9	6.0×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	102
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

3661 predictions. Top by Δscore:

Variant	Effect	Δscore
1:211966520:A:C	acceptor_gain	1.0000
1:211967838:T:TA	donor_gain	1.0000
1:211967839:C:A	donor_gain	1.0000
1:211967888:T:TA	donor_gain	1.0000
1:211967982:C:CC	acceptor_gain	1.0000
1:211981188:GAT:G	acceptor_gain	1.0000
1:211981189:ATC:A	acceptor_loss	1.0000
1:211981191:C:CC	acceptor_gain	1.0000
1:211981191:C:T	acceptor_loss	1.0000
1:211981192:T:C	acceptor_loss	1.0000
1:211985990:ACATC:A	donor_gain	1.0000
1:211985991:CATCC:C	donor_gain	1.0000
1:212006634:CATA:C	donor_loss	1.0000
1:212006635:ATACC:A	donor_loss	1.0000
1:212006636:TA:T	donor_loss	1.0000
1:212006637:A:C	donor_loss	1.0000
1:212006638:C:G	donor_loss	1.0000
1:212006762:C:CC	acceptor_gain	1.0000
1:212011420:CCCTT:C	acceptor_gain	1.0000
1:212011421:CCTT:C	acceptor_gain	1.0000
1:212016884:A:AC	donor_gain	1.0000
1:212016885:C:CC	donor_gain	1.0000
1:212016887:TTG:T	donor_gain	1.0000
1:212020117:TATA:T	donor_loss	1.0000
1:212020118:ATAC:A	donor_loss	1.0000
1:212020119:TACCG:T	donor_loss	1.0000
1:212020121:C:G	donor_loss	1.0000
1:212020264:TATTT:T	acceptor_gain	1.0000
1:212020266:TTT:T	acceptor_gain	1.0000
1:212020266:TTTC:T	acceptor_loss	1.0000

AlphaMissense

6320 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:211941961:A:G	W918R	1.000
1:211941961:A:T	W918R	1.000
1:211944836:A:T	V850D	1.000
1:211944881:A:T	V835D	1.000
1:211944887:C:T	G833E	1.000
1:211944888:C:G	G833R	1.000
1:211944888:C:T	G833R	1.000
1:211968703:G:T	A607D	1.000
1:211975183:C:A	G600W	1.000
1:211975183:C:G	G600R	1.000
1:211975183:C:T	G600R	1.000
1:212006659:A:G	W287R	1.000
1:212006659:A:T	W287R	1.000
1:212020253:C:A	R80S	1.000
1:212020253:C:G	R80S	1.000
1:212020254:C:A	R80M	1.000
1:212020254:C:G	R80T	1.000
1:212020262:A:C	N77K	1.000
1:212020262:A:T	N77K	1.000
1:212021102:C:G	A69P	1.000
1:212021110:A:G	L66P	1.000
1:212021116:G:T	A64E	1.000
1:212021117:C:G	A64P	1.000
1:212021121:A:C	N62K	1.000
1:212021121:A:T	N62K	1.000
1:212021128:A:G	L60P	1.000
1:212021128:A:T	L60H	1.000
1:212021131:A:G	I59T	1.000
1:212021131:A:T	I59N	1.000
1:212021134:G:T	P58H	1.000

dbSNP variants (sampled 300 via entrez): RS1000006311 (1:212000988 C>A,G,T), RS1000037510 (1:211953614 T>A,C), RS1000051419 (1:211973600 T>TA), RS1000103265 (1:211973398 C>A), RS1000125309 (1:212025020 A>C), RS1000125620 (1:211940826 G>A), RS1000139062 (1:211949907 A>G), RS1000141464 (1:212017320 C>A), RS1000251411 (1:211956151 G>C), RS1000253235 (1:212011291 G>T), RS1000269528 (1:212031336 A>G), RS1000330879 (1:212037312 T>C,G), RS1000366429 (1:211950116 T>C), RS1000381871 (1:212004356 A>G), RS1000410988 (1:211987578 T>G)

Disease associations

OMIM: gene MIM:611350 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST001419_7	Temperament (bipolar disorder)	2.000000e-08
GCST002595_25	Clozapine-induced agranulocytosis	8.000000e-06
GCST004067_177	Hip circumference adjusted for BMI	4.000000e-08
GCST004067_80	Hip circumference adjusted for BMI	5.000000e-07
GCST008971_145	Urate levels	1.000000e-06
GCST008972_217	Urate levels	4.000000e-09
GCST010796_1435	Electrocardiogram morphology (amplitude at temporal datapoints)	5.000000e-08
GCST010796_1436	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST90000025_846	Appendicular lean mass	9.000000e-21

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004365	personality trait
EFO:0008039	BMI-adjusted hip circumference
EFO:0004531	urate measurement
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

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, affects expression, decreases methylation	7
Estradiol	increases expression, affects cotreatment	2
TAK-243	increases sumoylation	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
perfluorooctanoic acid	decreases expression	1
benzo(e)pyrene	decreases methylation	1
perfluorooctane sulfonic acid	decreases expression	1
perfluoro-n-nonanoic acid	decreases expression	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
perfluorohexanesulfonic acid	decreases expression	1
abrine	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Resveratrol	increases expression, affects cotreatment	1
Vorinostat	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants, Occupational	decreases expression	1
Caffeine	decreases phosphorylation	1
Coumestrol	increases expression, affects cotreatment	1
Bucladesine	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Formaldehyde	decreases expression	1
Ivermectin	decreases expression	1
Methapyrilene	decreases methylation	1
Nickel	decreases expression	1
Phthalic Acids	decreases methylation	1
Tetrachlorodibenzodioxin	affects expression	1
Tretinoin	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	increases expression	1

Clinical trials (associated diseases)

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