INTS10

Summary

INTS10 (integrator complex subunit 10, HGNC:25548) is a protein-coding gene on chromosome 8p21.3, encoding Integrator complex subunit 10 (Q9NVR2). 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 selective cancer dependency (DepMap: 37.0% of cell lines).

INTS10 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).

Source: NCBI Gene 55174 — RefSeq curated summary.

At a glance

• GWAS associations: 16
• Clinical variants (ClinVar): 115 total
• Cancer dependency (DepMap): dependent in 37.0% of screened cell lines
• MANE Select transcript: NM_018142

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:25548
Approved symbol	INTS10
Name	integrator complex subunit 10
Location	8p21.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ10569, INT10
Ensembl gene	ENSG00000104613
Ensembl biotype	protein_coding
OMIM	611353
Entrez	55174

Gene structure

Transcript identifiers

Ensembl transcripts: 27 — 13 protein_coding, 6 retained_intron, 6 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

ENST00000397977, ENST00000517546, ENST00000518424, ENST00000518799, ENST00000519493, ENST00000520670, ENST00000520827, ENST00000520985, ENST00000521008, ENST00000521357, ENST00000521758, ENST00000522081, ENST00000522114, ENST00000522806, ENST00000523143, ENST00000523772, ENST00000523846, ENST00000523869, ENST00000607660, ENST00000884209, ENST00000884210, ENST00000884211, ENST00000884212, ENST00000884213, ENST00000884214, ENST00000884215, ENST00000926857

RefSeq mRNA: 19 — MANE Select: NM_018142 NM_001353505, NM_001353506, NM_001353507, NM_001353508, NM_001353509, NM_001353510, NM_001353511, NM_001353512, NM_001353513, NM_001353514, NM_001353515, NM_001353516, NM_001353517, NM_001353518, NM_001353519, NM_001353520, NM_001353521, NM_001353522, NM_018142

CCDS: CCDS6011

Canonical transcript exons

ENST00000397977 — 17 exons

Exon	Start	End
ENSE00000683215	19823873	19824044
ENSE00000683216	19824803	19824972
ENSE00001206712	19851649	19852067
ENSE00002110047	19817416	19817666
ENSE00003475383	19823301	19823441
ENSE00003503617	19826426	19826559
ENSE00003506344	19844076	19844238
ENSE00003532982	19819573	19819676
ENSE00003564621	19842848	19842927
ENSE00003583601	19820379	19820518
ENSE00003585094	19818275	19818342
ENSE00003592081	19837052	19837160
ENSE00003611237	19830406	19830559
ENSE00003622616	19845704	19845797
ENSE00003655594	19833169	19833321
ENSE00003672025	19822439	19822520
ENSE00003790934	19832028	19832110

Expression profiles

Bgee: expression breadth ubiquitous, 261 present calls, max score 98.18.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 28.4234 / max 325.4298, expressed in 1813 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
87599	24.7106	1812
87598	1.4381	942
87600	1.2834	780
87602	0.4943	274
87597	0.2992	122
87601	0.1977	64

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	98.18	gold quality
right uterine tube	UBERON:0001302	98.16	gold quality
cerebellar hemisphere	UBERON:0002245	97.81	gold quality
right hemisphere of cerebellum	UBERON:0014890	97.73	gold quality
cerebellar cortex	UBERON:0002129	97.68	gold quality
calcaneal tendon	UBERON:0003701	97.53	gold quality
right lobe of thyroid gland	UBERON:0001119	97.33	gold quality
left lobe of thyroid gland	UBERON:0001120	97.23	gold quality
thyroid gland	UBERON:0002046	97.13	gold quality
Brodmann (1909) area 9	UBERON:0013540	96.97	gold quality
right lobe of liver	UBERON:0001114	96.96	gold quality
tibial nerve	UBERON:0001323	96.92	gold quality
cerebellum	UBERON:0002037	96.70	gold quality
pancreas	UBERON:0001264	96.62	gold quality
right frontal lobe	UBERON:0002810	96.46	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.30	gold quality
tibia	UBERON:0000979	96.27	gold quality
upper arm skin	UBERON:0004263	96.07	gold quality
cortical plate	UBERON:0005343	96.01	gold quality
adenohypophysis	UBERON:0002196	95.85	gold quality
skin of abdomen	UBERON:0001416	95.82	gold quality
nucleus accumbens	UBERON:0001882	95.79	gold quality
bronchial epithelial cell	CL:0002328	95.75	gold quality
metanephros cortex	UBERON:0010533	95.71	gold quality
skin of leg	UBERON:0001511	95.70	gold quality
caudate nucleus	UBERON:0001873	95.67	gold quality
amygdala	UBERON:0001876	95.62	gold quality
endocervix	UBERON:0000458	95.56	gold quality
epithelium of bronchus	UBERON:0002031	95.55	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.54	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.49

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

24 targeting INTS10, 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-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
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-4503	99.85	71.45	1869
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-4699-3P	99.71	70.15	3142
HSA-MIR-651-5P	99.64	68.49	1104
HSA-MIR-302A-5P	99.39	68.21	1913
HSA-MIR-6889-3P	98.84	67.35	1198
HSA-MIR-6529-3P	98.68	66.76	1020
HSA-MIR-509-3P	98.12	67.25	612
HSA-MIR-4456	97.50	64.88	1678
HSA-MIR-4522	95.76	66.23	742
HSA-MIR-4471	95.11	66.84	755
HSA-MIR-8059	95.11	66.30	646

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 37.0% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

• Genome-wide association study in Chinise population highlights a novel antiviral gene INTS10 at 8p21.3 in the clearance of HBV infection. INST10 suppresses HBV replication via IRF3 in liver cells. (PMID:27244555)
• Using a 7,781-sample pan-cancer dataset, we first confirmed this in POLR2A are known to confer elevated sensitivity to pharmacological suppression.hese include the POLR2A interacting protein INTS10 as well as genes involved in mRNA splicing, nonsense-mediated mRNA (PMID:28027311)
• INTS10-INTS13-INTS14 form a functional module of Integrator that binds nucleic acids and the cleavage module. (PMID:32647223)
• Effects of genetic polymorphisms in INTS10 and their interaction with environmental factors on progression from persistent HBV infection to hepatocellular carcinoma. (PMID:34133796)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	ints10	ENSDARG00000043031
mus_musculus	Ints10	ENSMUSG00000031864
rattus_norvegicus	Ints10	ENSRNOG00000055331
drosophila_melanogaster	IntS10	FBGN0035462

Protein

Protein identifiers

Integrator complex subunit 10 — Q9NVR2 (reviewed: Q9NVR2)

All UniProt accessions (11): E5RHN1, E5RJN5, Q9NVR2, H0YAU7, H0YAY7, H0YB36, H0YB48, H0YBB0, H0YBH6, H0YBW3, H0YC09

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). Within the integrator complex, INTS10 is part of the integrator tail module that acts as a platform for the recruitment of transcription factors at promoters. May be not involved in the recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the integrator complex.

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. INTS10 is part of the tail subcomplex, composed of INTS10, INTS13, INTS14 and INTS15.

Subcellular location. Nucleus.

Similarity. Belongs to the Integrator subunit 10 family.

RefSeq proteins (19): NP_001340434, NP_001340435, NP_001340436, NP_001340437, NP_001340438, NP_001340439, NP_001340440, NP_001340441, NP_001340442, NP_001340443, NP_001340444, NP_001340445, NP_001340446, NP_001340447, NP_001340448, NP_001340449, NP_001340450, NP_001340451, NP_060612* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR026164	Int_cplx_su10	Family

Pfam: PF21045

UniProt features (64 total): helix 35, strand 13, turn 8, modified residue 3, mutagenesis site 2, chain 1, cross-link 1, sequence conflict 1

Structure

Experimental structures (PDB)

8 structures.

PDB	Method	Resolution (Å)
8RC4	ELECTRON MICROSCOPY	3.1
9EOC	ELECTRON MICROSCOPY	3.3
8RBZ	ELECTRON MICROSCOPY	3.7
9EP1	ELECTRON MICROSCOPY	4
9FA4	ELECTRON MICROSCOPY	4
9FA7	ELECTRON MICROSCOPY	4
8RBX	ELECTRON MICROSCOPY	4.1
9EOF	ELECTRON MICROSCOPY	7.7

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NVR2-F1	83.19	0.64

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): 231, 381, 382, 464

Mutagenesis-validated functional residues (2):

Position	Phenotype
28–29	abolished interaction with ints15.
633–634	abolished interaction with ints13 and ints14.

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: 111 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_RNA_SURVEILLANCE, chr8p21, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, ZHOU_INFLAMMATORY_RESPONSE_LIVE_DN, SCHLOSSER_MYC_TARGETS_AND_SERUM_RESPONSE_UP, GOBP_SNRNA_PROCESSING, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, MORF_RFC1

GO Biological Process (3): snRNA processing (GO:0016180), regulation of transcription elongation by RNA polymerase II (GO:0034243), RNA polymerase II transcription initiation surveillance (GO:0160240)

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

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), 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
nuclear protein-containing complex	2
RNA processing	1
snRNA metabolic process	1
transcription elongation by RNA polymerase II	1
regulation of DNA-templated transcription elongation	1
transcription initiation at RNA polymerase II promoter	1
nuclear RNA surveillance	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
integrator complex	1

Protein interactions and networks

STRING

942 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
INTS10	INTS11	Q5TA45	955
INTS10	INTS9	Q9NV88	901
INTS10	INTS7	Q9NVH2	886
INTS10	INTS5	Q6P9B9	832
INTS10	INTS8	Q75QN2	828
INTS10	INTS12	Q96CB8	811
INTS10	INTS4	Q96HW7	807
INTS10	INTS14	Q96SY0	772
INTS10	INTS3	Q68E01	710
INTS10	INTS1	Q8N201	690
INTS10	INTS13	Q9NVM9	623
INTS10	POLR2A	P24928	616
INTS10	INTS2	Q9H0H0	606
INTS10	INTS6	Q9UL03	581
INTS10	TCF19	Q9Y242	557

IntAct

57 interactions, top by confidence:

A	B	Type	Score
INTS10	INTS14	psi-mi:“MI:0915”(physical association)	0.900
INTS14	INTS10	psi-mi:“MI:0915”(physical association)	0.900
INTS11	INTS4	psi-mi:“MI:0915”(physical association)	0.860
INTS13	INTS14	psi-mi:“MI:0915”(physical association)	0.810
INTS13	INTS14	psi-mi:“MI:0914”(association)	0.810
INTS14	INTS13	psi-mi:“MI:0914”(association)	0.810
INTS10	INTS11	psi-mi:“MI:0915”(physical association)	0.740
INTS13	INTS11	psi-mi:“MI:0915”(physical association)	0.690
POLR2C	SUPT5H	psi-mi:“MI:0914”(association)	0.640
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
INTS10	ZNF655	psi-mi:“MI:0915”(physical association)	0.560
MEOX2	INTS10	psi-mi:“MI:0915”(physical association)	0.560
ZNF655	INTS10	psi-mi:“MI:0915”(physical association)	0.560
NECAB2	INTS10	psi-mi:“MI:0915”(physical association)	0.560
INTS10	PGK2	psi-mi:“MI:0914”(association)	0.530
SUPT5H	POLR2D	psi-mi:“MI:0914”(association)	0.530
	INTS14	psi-mi:“MI:0915”(physical association)	0.520
INTS11	INTS3	psi-mi:“MI:0915”(physical association)	0.400
	INTS14	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (74): INTS2 (Co-fractionation), INTS10 (Affinity Capture-MS), INTS10 (Affinity Capture-MS), ASUN (Affinity Capture-MS), VWA9 (Affinity Capture-MS), PGK2 (Affinity Capture-MS), ACTBL2 (Affinity Capture-MS), INTS10 (Affinity Capture-MS), INTS10 (Affinity Capture-MS), INTS10 (Affinity Capture-MS), INTS10 (Two-hybrid), MEOX2 (Two-hybrid), ZNF655 (Two-hybrid), INTS10 (Affinity Capture-MS), INTS10 (Proximity Label-MS)

ESM2 similar proteins: A0A1B0GVH7, A6PVS8, A8DZJ1, A9Q751, D3ZSP7, D4AEC2, Q08AD1, Q08CX2, Q14DL3, Q2T9P0, Q2TA00, Q32KQ1, Q3UZ57, Q3V0J4, Q4G0U5, Q4R7B1, Q4R7Z7, Q5S003, Q5SUV2, Q5T1B0, Q5ZLS8, Q63164, Q66HC0, Q69CM7, Q6AXP3, Q6AYL8, Q6IRN6, Q6NXP0, Q6Q759, Q80X60, Q86WZ0, Q8C1B1, Q8C4J0, Q8C636, Q8CDN1, Q8CDU5, Q8IWF9, Q8N7B9, Q8N7U6, Q8ND61

Diamond homologs: Q4R7B1, Q5ZLS8, Q6TNU3, Q8K2A7, Q9NVR2

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
INTS10	“form complex”	“Integrator complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 42 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	6	130.5×	7e-11
Signaling by FGFR2 IIIa TM	6	103.0×	3e-10
Abortive elongation of HIV-1 transcript in the absence of Tat	7	99.3×	2e-11
Pausing and recovery of Tat-mediated HIV elongation	8	84.2×	4e-12
Tat-mediated HIV elongation arrest and recovery	8	84.2×	4e-12
RNA Pol II CTD phosphorylation and interaction with CE during HIV infection	7	81.6×	5e-11
RNA Pol II CTD phosphorylation and interaction with CE	7	81.6×	5e-11
HIV elongation arrest and recovery	8	79.1×	4e-12

GO biological processes:

GO term	Partners	Fold	FDR
RNA polymerase II transcription initiation surveillance	6	133.0×	1e-09
snRNA processing	5	131.7×	3e-08
regulation of transcription elongation by RNA polymerase II	6	120.4×	1e-09
transcription by RNA polymerase II	6	10.6×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	85
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2705 predictions. Top by Δscore:

Variant	Effect	Δscore
8:19818273:A:AG	acceptor_gain	1.0000
8:19818274:G:GG	acceptor_gain	1.0000
8:19819640:A:T	donor_gain	1.0000
8:19819652:G:GT	donor_gain	1.0000
8:19819674:G:GT	donor_gain	1.0000
8:19819674:GAA:G	donor_gain	1.0000
8:19819677:G:GG	donor_gain	1.0000
8:19822435:ATAGG:A	acceptor_loss	1.0000
8:19822436:TAGG:T	acceptor_loss	1.0000
8:19822437:A:AC	acceptor_loss	1.0000
8:19822437:AGGTT:A	acceptor_gain	1.0000
8:19822438:GGTT:G	acceptor_gain	1.0000
8:19822438:GGTTG:G	acceptor_gain	1.0000
8:19822521:G:GG	donor_gain	1.0000
8:19823295:CAACA:C	acceptor_loss	1.0000
8:19823296:A:AG	acceptor_gain	1.0000
8:19823296:AACAG:A	acceptor_loss	1.0000
8:19823297:ACAG:A	acceptor_loss	1.0000
8:19823298:CA:C	acceptor_loss	1.0000
8:19823299:A:AG	acceptor_gain	1.0000
8:19823299:AGTTT:A	acceptor_gain	1.0000
8:19823300:G:GC	acceptor_gain	1.0000
8:19823300:GT:G	acceptor_gain	1.0000
8:19823300:GTT:G	acceptor_gain	1.0000
8:19823300:GTTT:G	acceptor_gain	1.0000
8:19823300:GTTTG:G	acceptor_gain	1.0000
8:19823438:CAAGG:C	donor_loss	1.0000
8:19823439:AAGG:A	donor_loss	1.0000
8:19823440:AGG:A	donor_loss	1.0000
8:19823441:GGT:G	donor_loss	1.0000

AlphaMissense

4711 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
8:19817611:C:A	A25D	1.000
8:19817619:T:A	W28R	1.000
8:19817619:T:C	W28R	1.000
8:19817623:T:C	L29P	1.000
8:19817631:G:C	A32P	1.000
8:19817632:C:A	A32D	1.000
8:19818321:C:A	A59D	1.000
8:19818323:G:T	G60W	1.000
8:19818333:T:C	L63P	1.000
8:19820421:T:C	L115S	1.000
8:19820475:T:C	L133P	1.000
8:19820481:T:C	L135P	1.000
8:19820516:G:T	G147W	1.000
8:19820517:G:A	G147E	1.000
8:19822458:T:C	L154P	1.000
8:19822509:G:C	R171T	1.000
8:19822509:G:T	R171I	1.000
8:19823301:T:A	V175D	1.000
8:19823310:T:A	V178D	1.000
8:19823313:T:C	L179P	1.000
8:19823381:G:C	A202P	1.000
8:19823384:G:C	A203P	1.000
8:19823390:T:C	F205L	1.000
8:19823391:T:C	F205S	1.000
8:19823392:T:A	F205L	1.000
8:19823392:T:G	F205L	1.000
8:19824022:T:A	W272R	1.000
8:19824022:T:C	W272R	1.000
8:19832072:T:A	W447R	1.000
8:19832072:T:C	W447R	1.000

dbSNP variants (sampled 300 via entrez): RS1000262678 (8:19833410 A>C), RS1000281593 (8:19851589 C>T), RS1000312488 (8:19839709 AAAAC>A), RS1000411547 (8:19845868 A>C,G), RS1000504130 (8:19824497 AAG>A), RS1000504721 (8:19834627 A>T), RS1000532358 (8:19827398 C>T), RS1000593241 (8:19839944 T>G), RS1000601502 (8:19832717 A>G), RS1000605804 (8:19828452 C>A,T), RS1000717453 (8:19833639 A>C), RS1000754162 (8:19827595 C>G), RS1000793946 (8:19823513 T>A,C), RS1000867102 (8:19845629 G>A,C), RS1000879337 (8:19817754 C>A,G,T)

Disease associations

OMIM: gene MIM:611353 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST000137_1	Triglycerides	5.000000e-12
GCST001320_31	Acute lymphoblastic leukemia (childhood)	2.000000e-06
GCST001320_5	Acute lymphoblastic leukemia (childhood)	6.000000e-09
GCST001905_5	Hypertriglyceridemia	4.000000e-11
GCST003615_3	Persistent hepatitis B virus infection	3.000000e-12
GCST004519_3	Body mass index (adult)	5.000000e-08
GCST009391_110	Metabolite levels	7.000000e-06
GCST009391_115	Metabolite levels	3.000000e-06
GCST009391_60	Metabolite levels	3.000000e-06
GCST010242_265	HDL cholesterol levels	2.000000e-09
GCST010242_472	HDL cholesterol levels	5.000000e-38
GCST010244_248	Triglyceride levels	4.000000e-24
GCST011683_4	Low density lipoprotein cholesterol levels	2.000000e-08
GCST011684_5	High density lipoprotein cholesterol levels	1.000000e-06
GCST011691_5	Total cholesterol levels	8.000000e-07
GCST011694_3	Non-HDL cholesterol levels	4.000000e-07

EFO canonical traits (9, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0004340	body mass index
EFO:0010353	diacylglycerol 34:2 measurement
EFO:0010354	diacylglycerol 36:1 measurement
EFO:0010352	diacylglycerol 34:1 measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004574	total cholesterol measurement
EFO:0005689	non-high density lipoprotein cholesterol measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
FR900359	affects phosphorylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, increases oxidation, increases abundance	1
trichostatin A	affects expression	1
beta-lapachone	increases expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	increases expression	1
potassium chromate(VI)	decreases expression, affects cotreatment	1
methacrylaldehyde	affects cotreatment, increases oxidation, increases abundance	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
abrine	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	increases expression	1
Acetaminophen	decreases expression	1
Acrolein	affects cotreatment, increases oxidation, increases abundance	1
Air Pollutants	affects cotreatment, increases abundance, increases oxidation	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	decreases expression	1
Hydrogen Peroxide	affects expression	1
Methyl Methanesulfonate	decreases expression	1
Ozone	increases abundance, affects cotreatment, increases oxidation	1
Plant Extracts	affects cotreatment, increases expression	1
Smoke	decreases expression	1
Dihydrotestosterone	increases expression	1
Thimerosal	increases expression	1
Thiram	decreases expression	1
Tretinoin	decreases expression	1

Clinical trials (associated diseases)

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