TRIM47

Summary

TRIM47 (tripartite motif containing 47, HGNC:19020) is a protein-coding gene on chromosome 17q25.1, encoding E3 ubiquitin-protein ligase TRIM47 (Q96LD4). E3 ubiquitin-protein ligase that mediates the ubiquitination and proteasomal degradation of CYLD.

Enables ubiquitin protein ligase activity. Involved in protein ubiquitination. Located in cytosol.

Source: NCBI Gene 91107 — RefSeq curated summary.

At a glance

• Gene–disease (curated): genetic cerebral small vessel disease (Limited, GenCC)
• GWAS associations: 8
• Clinical variants (ClinVar): 132 total — 1 pathogenic
• MANE Select transcript: NM_033452

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19020
Approved symbol	TRIM47
Name	tripartite motif containing 47
Location	17q25.1
Locus type	gene with protein product
Status	Approved
Aliases	GOA, RNF100
Ensembl gene	ENSG00000132481
Ensembl biotype	protein_coding
OMIM	611041
Entrez	91107

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 4 protein_coding, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000254816, ENST00000585333, ENST00000586495, ENST00000587339, ENST00000587774, ENST00000592942, ENST00000593089, ENST00000964611

RefSeq mRNA: 1 — MANE Select: NM_033452 NM_033452

CCDS: CCDS32737

Canonical transcript exons

ENST00000254816 — 6 exons

Exon	Start	End
ENSE00000905136	75876262	75876492
ENSE00000949741	75875901	75876099
ENSE00000949742	75875400	75875474
ENSE00001117884	75877874	75878581
ENSE00002874482	75874164	75875123
ENSE00003595210	75876718	75876813

Expression profiles

Bgee: expression breadth ubiquitous, 222 present calls, max score 96.62.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.8662 / max 161.5104, expressed in 1549 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
168132	6.5559	1265
168129	1.9202	924
168130	1.0147	503
168133	0.6069	396
168131	0.5190	340
168128	0.2004	113
168127	0.0490	18

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	96.62	gold quality
right coronary artery	UBERON:0001625	95.23	gold quality
lower esophagus muscularis layer	UBERON:0035833	95.16	gold quality
lower esophagus	UBERON:0013473	95.15	gold quality
descending thoracic aorta	UBERON:0002345	95.08	gold quality
muscle layer of sigmoid colon	UBERON:0035805	94.52	gold quality
thoracic aorta	UBERON:0001515	93.68	gold quality
ascending aorta	UBERON:0001496	93.63	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.59	gold quality
metanephros cortex	UBERON:0010533	93.56	gold quality
left coronary artery	UBERON:0001626	93.52	gold quality
coronary artery	UBERON:0001621	93.49	gold quality
aorta	UBERON:0000947	93.25	gold quality
tibial artery	UBERON:0007610	92.99	gold quality
popliteal artery	UBERON:0002250	92.98	gold quality
mucosa of transverse colon	UBERON:0004991	92.94	gold quality
body of uterus	UBERON:0009853	92.90	gold quality
spleen	UBERON:0002106	92.57	gold quality
mucosa of stomach	UBERON:0001199	92.55	gold quality
gall bladder	UBERON:0002110	92.52	gold quality
minor salivary gland	UBERON:0001830	92.45	gold quality
peripheral nervous system	UBERON:0000010	92.40	gold quality
tibial nerve	UBERON:0001323	92.40	gold quality
left uterine tube	UBERON:0001303	92.38	gold quality
lower esophagus mucosa	UBERON:0035834	92.27	gold quality
esophagus	UBERON:0001043	92.15	gold quality
endocervix	UBERON:0000458	91.98	gold quality
skin of leg	UBERON:0001511	91.70	gold quality
transverse colon	UBERON:0001157	91.66	gold quality
mouth mucosa	UBERON:0003729	91.63	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.72

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

31 targeting TRIM47, 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-4455	100.00	65.48	1587
HSA-MIR-150-5P	99.99	66.69	1976
HSA-MIR-10401-5P	99.99	65.79	948
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-6755-5P	99.95	65.59	464
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-4648	99.91	67.00	710
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-6739-5P	99.80	67.87	2806
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-4658	99.77	64.94	514
HSA-MIR-6790-5P	99.77	65.24	505
HSA-MIR-6733-5P	99.74	67.94	2759
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-6513-3P	99.59	69.77	1102
HSA-MIR-3153	99.55	67.59	2337
HSA-MIR-7159-5P	99.53	72.12	2472
HSA-MIR-671-5P	99.52	67.11	1277
HSA-MIR-6081	99.48	66.07	1446
HSA-MIR-532-3P	99.34	65.76	1195
HSA-MIR-4505	99.27	67.81	2678
HSA-MIR-661	99.09	65.94	2062
HSA-MIR-6877-3P	98.98	65.83	560
HSA-MIR-6770-5P	98.97	66.76	1853
HSA-MIR-6819-3P	98.95	65.57	572
HSA-MIR-421	98.90	67.04	1883
HSA-MIR-7851-3P	98.72	64.88	980
HSA-MIR-12114	98.70	63.45	730
HSA-MIR-7977	98.65	66.18	2590

Literature-anchored findings (GeneRIF, showing 13)

• Study shows that protein and gene expression level of TRIM47 are up-regulated in prostate neoplasm. (PMID:26873435)
• These results suggest that rs1055129 in TRIM47 is not associated with leukoaraiosis (LA) risk in the Chinese population. However, the association of rs1055129 (TRIM47) with LA before Bonferroni correction and Sidak correction is worth highlighting. (PMID:27583843)
• High TRIM47 expression is associated with non-small cell lung carcinoma. (PMID:28186994)
• our study has shown the biological and clinical significance of TRIM47 in colorectal cancer. TRIM47 exerts an inhibitory effect on SMAD4 by ubiquitylating and degrading SMAD4, thereby promoting tumor growth and progression. (PMID:30979374)
• Knockdown of TRIM47 inhibits glioma cell proliferation, migration and invasion through the inactivation of Wnt/beta-catenin pathway. (PMID:32603762)
• Trim47 overexpression correlates with poor prognosis in gastric cancer. (PMID:33350849)
• TRIM47 accelerates aerobic glycolysis and tumor progression through regulating ubiquitination of FBP1 in pancreatic cancer. (PMID:33529753)
• Upregulated Tripartite Motif 47 Could Facilitate Glioma Cell Proliferation and Metastasis as a Tumorigenesis Promoter. (PMID:33833824)
• TRIM47 activates NF-kappaB signaling via PKC-epsilon/PKD3 stabilization and contributes to endocrine therapy resistance in breast cancer. (PMID:34433666)
• TRIM47 promotes glioma angiogenesis by suppressing Smad4. (PMID:36203070)
• TRIM47 promotes ovarian cancer cell proliferation, migration, and invasion by activating STAT3 signaling. (PMID:36288633)
• TRIM47-CDO1 axis dictates hepatocellular carcinoma progression by modulating ferroptotic cell death through the ubiquitin-proteasome system. (PMID:38614226)
• White matter hyperintensity genetic risk factor TRIM47 regulates autophagy in brain endothelial cells. (PMID:39331575)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	trim45	ENSDARG00000076781
mus_musculus	Trim47	ENSMUSG00000020773
rattus_norvegicus	Trim47	ENSRNOG00000008215

Paralogs (80): MID2 (ENSG00000080561), TRIM9 (ENSG00000100505), MID1 (ENSG00000101871), MEFV (ENSG00000103313), TRIM35 (ENSG00000104228), TRIM14 (ENSG00000106785), TRIM37 (ENSG00000108395), TRIM2 (ENSG00000109654), TRIM3 (ENSG00000110171), TRIM38 (ENSG00000112343), TRIM62 (ENSG00000116525), TRIM67 (ENSG00000119283), TRIM32 (ENSG00000119401), BSPRY (ENSG00000119411), TRIM25 (ENSG00000121060), TRIM6 (ENSG00000121236), TRIM24 (ENSG00000122779), TRIM51 (ENSG00000124900), TRIM28 (ENSG00000130726), TRIM21 (ENSG00000132109), TRIM5 (ENSG00000132256), TRIM22 (ENSG00000132274), TRIM45 (ENSG00000134253), TRIM29 (ENSG00000137699), TRIM54 (ENSG00000138100), PML (ENSG00000140464), TRIM65 (ENSG00000141569), TRIM43B (ENSG00000144010), TRIM43 (ENSG00000144015), TRIM7 (ENSG00000146054), TRIM41 (ENSG00000146063), TRIM50 (ENSG00000146755), TRIM4 (ENSG00000146833), TRIM55 (ENSG00000147573), TRIM48 (ENSG00000150244), TRIM36 (ENSG00000152503), TRIM11 (ENSG00000154370), TRIM74 (ENSG00000155428), TRIM42 (ENSG00000155890), TRIM63 (ENSG00000158022)

Protein

Protein identifiers

E3 ubiquitin-protein ligase TRIM47 — Q96LD4 (reviewed: Q96LD4)

Alternative names: Gene overexpressed in astrocytoma protein, RING finger protein 100, Tripartite motif-containing protein 47

All UniProt accessions (4): Q96LD4, A0A0M3HER3, K7EJ63, K7EQ30

UniProt curated annotations — full annotation on UniProt →

Function. E3 ubiquitin-protein ligase that mediates the ubiquitination and proteasomal degradation of CYLD.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Low expression in most tissues. Higher expression in kidney tubular cells. Overexpressed in astrocytoma tumor cells.

Pathway. Protein modification; protein ubiquitination.

Similarity. Belongs to the TRIM/RBCC family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q96LD4-1	1	yes
Q96LD4-2	2

RefSeq proteins (1): NP_258411* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000315	Znf_B-box	Domain
IPR001841	Znf_RING	Domain
IPR001870	B30.2/SPRY	Domain
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR013320	ConA-like_dom_sf	Homologous_superfamily
IPR017907	Znf_RING_CS	Conserved_site
IPR027370	Znf-RING_euk	Domain
IPR042780	TRIM47_SPRY_PRY	Domain
IPR043136	B30.2/SPRY_sf	Homologous_superfamily
IPR051051	E3_ubiq-ligase_TRIM/RNF	Family
IPR058030	TRIM8/14/16/25/29/45/65_CC	Domain

Pfam: PF00643, PF13445, PF25600

UniProt features (22 total): modified residue 5, binding site 4, compositionally biased region 3, region of interest 3, zinc finger region 2, chain 1, domain 1, splice variant 1, sequence variant 1, coiled-coil region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96LD4-F1	82.28	0.55

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Ligand- & substrate-binding residues (4): 182; 185; 204; 209

Post-translational modifications (5): 72, 461, 582, 588, 1

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 150 (showing top): CREL_01, SHEPARD_BMYB_MORPHOLINO_UP, CHIARADONNA_NEOPLASTIC_TRANSFORMATION_KRAS_DN, GOBP_SYNAPSE_ASSEMBLY, ZHAN_MULTIPLE_MYELOMA_MF_UP, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, NFKB_Q6, PICCALUGA_ANGIOIMMUNOBLASTIC_LYMPHOMA_UP, NFKB_C, GOBP_CELL_JUNCTION_ORGANIZATION, E2F_Q3, GOBP_REGULATION_OF_SYNAPSE_ASSEMBLY, GGGNNTTTCC_NFKB_Q6_01, TGANTCA_AP1_C

GO Biological Process (2): protein ubiquitination (GO:0016567), regulation of postsynapse assembly (GO:0150052)

GO Molecular Function (5): ubiquitin-protein transferase activity (GO:0004842), zinc ion binding (GO:0008270), ubiquitin protein ligase activity (GO:0061630), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (5): nucleus (GO:0005634), cytosol (GO:0005829), postsynapse (GO:0098794), glutamatergic synapse (GO:0098978), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
synapse	2
protein modification by small protein conjugation	1
regulation of synapse assembly	1
postsynapse assembly	1
regulation of postsynapse organization	1
ubiquitin-like protein transferase activity	1
transition metal ion binding	1
ubiquitin-protein transferase activity	1
ubiquitin-like protein ligase activity	1
catalytic activity	1
cation binding	1
intracellular membrane-bounded organelle	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

658 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRIM47	TRIM59	Q8IWR1	668
TRIM47	MRPL38	Q96DV4	657
TRIM47	BBOX1	O75936	625
TRIM47	TRIM66	O15016	623
TRIM47	FBF1	Q8TES7	583
TRIM47	WBP2	Q969T9	581
TRIM47	TRAT1	Q6PIZ9	576
TRIM47	TRIM25	Q14258	519
TRIM47	A0A087WT04	A0A087WT04	516
TRIM47	TRIM42	Q8IWZ5	480
TRIM47	PMF1	Q6P1K2	478
TRIM47	TRIM37	O94972	458
TRIM47	TRIM44	Q96DX7	448
TRIM47	TRIM23	P36406	446
TRIM47	ASZ1	Q8WWH4	441

IntAct

33 interactions, top by confidence:

A	B	Type	Score
XAF1	AKT1	psi-mi:“MI:0914”(association)	0.670
SATB2	SATB1	psi-mi:“MI:0914”(association)	0.640
TRIM44	CUL2	psi-mi:“MI:0914”(association)	0.640
FGL1	LCMT2	psi-mi:“MI:0914”(association)	0.640
Dctn2	DCTN6	psi-mi:“MI:0914”(association)	0.560
TRIM44	ODAD3	psi-mi:“MI:0914”(association)	0.530
TRIM47	UBE2U	psi-mi:“MI:0915”(physical association)	0.370
TRIM8	TRIM47	psi-mi:“MI:0915”(physical association)	0.370
Ckap5	CCHCR1	psi-mi:“MI:0914”(association)	0.350
PDK1	VWA8	psi-mi:“MI:0914”(association)	0.350
NUDCD1	TUBAL3	psi-mi:“MI:0914”(association)	0.350
KLHL2	DCTN6	psi-mi:“MI:0914”(association)	0.350
SATB1	PLPBP	psi-mi:“MI:0914”(association)	0.350
SATB2	PRSS3	psi-mi:“MI:0914”(association)	0.350
	SHTN1	psi-mi:“MI:0914”(association)	0.350
CTNND2	ZMYND19	psi-mi:“MI:0914”(association)	0.350
SATB1	SCYL1	psi-mi:“MI:0914”(association)	0.350
ZNF444	SBNO1	psi-mi:“MI:0914”(association)	0.350
EEF1AKMT3	SMCHD1	psi-mi:“MI:0914”(association)	0.350
NHLRC1	TK2	psi-mi:“MI:0914”(association)	0.350
SATB1	TLE1	psi-mi:“MI:0914”(association)	0.350
ITM2C	UBA6	psi-mi:“MI:0914”(association)	0.350
SH3GLB1	TRIM47	psi-mi:“MI:0914”(association)	0.350
VENTX	UBA6	psi-mi:“MI:0914”(association)	0.350
CDH5	ESYT2	psi-mi:“MI:2364”(proximity)	0.270
TRIM47		psi-mi:“MI:0915”(physical association)	0.000

BioGRID (421): TRIM47 (Affinity Capture-MS), TRIM47 (Affinity Capture-MS), TRIM47 (Affinity Capture-MS), TRIM47 (Affinity Capture-MS), TRIM47 (Affinity Capture-MS), TRIM47 (Affinity Capture-MS), TRIM47 (Affinity Capture-MS), TRIM47 (Affinity Capture-MS), TRIM47 (Affinity Capture-MS), TRIM47 (Affinity Capture-MS), CYLD (Affinity Capture-Western), CYLD (Biochemical Activity), UBE2D2 (Reconstituted Complex), TRIM47 (Affinity Capture-Western), SMAD4 (Affinity Capture-Western)

ESM2 similar proteins: A0JPQ4, E1BD59, O15197, P0C0K6, P62603, Q14142, Q1XH17, Q1XH18, Q3UWZ0, Q5BK82, Q5JZY3, Q5M929, Q5NCC3, Q5RBG2, Q5RKG6, Q5TM55, Q5W0U4, Q640S6, Q6P6S3, Q6PGR9, Q6PJ69, Q6ZMU5, Q7TPM3, Q7YR32, Q80VI1, Q80X56, Q80YW5, Q810I1, Q810I2, Q865W2, Q86UV6, Q86UV7, Q86XT4, Q8BFW4, Q8BVW3, Q8BYG9, Q8C006, Q8C0E3, Q8IUD6, Q8K243

Diamond homologs: A0A0R4I9Y1, A0A0R4IBK5, E9Q555, Q2TBT8, Q63HN8, Q66JE4, Q6NZ21, Q6PJ69, Q8R151, Q96LD4, Q9P2E3, A0JPQ4, A6QQX5, D3YY23, D3Z8N2, F6ZQ54, F8S122, O00478, O00481, O60858, O75677, P18892, P82885, P83234, Q13410, Q14258, Q17RB8, Q1XH17, Q1XH18, Q27J48, Q2XXL4, Q32L60, Q503I2, Q5EBN2, Q5M7V1, Q5R846, Q5R996, Q5TA31, Q5ZMD4, Q61510

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
Ub:E2	“up-regulates activity”	TRIM47	ubiquitination
TRIM47	“down-regulates quantity”	CYLD	ubiquitination

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	119
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
59610	GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1	Pathogenic

SpliceAI

1134 predictions. Top by Δscore:

Variant	Effect	Δscore
17:75875119:GGCAA:G	acceptor_gain	1.0000
17:75875120:GCAA:G	acceptor_gain	1.0000
17:75875121:CAA:C	acceptor_gain	1.0000
17:75875121:CAAC:C	acceptor_gain	1.0000
17:75875122:AA:A	acceptor_gain	1.0000
17:75875123:AC:A	acceptor_loss	1.0000
17:75875124:C:CC	acceptor_gain	1.0000
17:75875124:CTGAT:C	acceptor_loss	1.0000
17:75875129:CCCG:C	acceptor_gain	1.0000
17:75875130:CCG:C	acceptor_gain	1.0000
17:75875131:C:CT	acceptor_gain	1.0000
17:75875131:C:T	acceptor_gain	1.0000
17:75875132:G:C	acceptor_gain	1.0000
17:75875132:G:GC	acceptor_gain	1.0000
17:75875132:G:T	acceptor_gain	1.0000
17:75875137:C:CT	acceptor_gain	1.0000
17:75875138:A:T	acceptor_gain	1.0000
17:75875395:CTTA:C	donor_loss	1.0000
17:75875397:TA:T	donor_loss	1.0000
17:75875398:A:AC	donor_gain	1.0000
17:75875398:AC:A	donor_loss	1.0000
17:75875399:C:CT	donor_gain	1.0000
17:75875399:CA:C	donor_gain	1.0000
17:75875399:CACT:C	donor_gain	1.0000
17:75875399:CACTT:C	donor_gain	1.0000
17:75875470:ATCAG:A	acceptor_gain	1.0000
17:75875471:TCAG:T	acceptor_gain	1.0000
17:75875472:CAG:C	acceptor_gain	1.0000
17:75875472:CAGC:C	acceptor_gain	1.0000
17:75875473:AG:A	acceptor_gain	1.0000

AlphaMissense

4104 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
17:75874755:C:A	G549W	0.999
17:75874914:C:A	G496W	0.999
17:75874914:C:G	G496R	0.999
17:75874914:C:T	G496R	0.999
17:75874950:A:G	W484R	0.999
17:75874950:A:T	W484R	0.999
17:75878339:G:C	N70K	0.999
17:75878339:G:T	N70K	0.999
17:75878389:A:G	C54R	0.999
17:75878465:G:C	F28L	0.999
17:75878465:G:T	F28L	0.999
17:75878467:A:G	F28L	0.999
17:75878524:A:G	C9R	0.999
17:75874754:C:T	G549E	0.998
17:75874835:A:G	L522P	0.998
17:75874845:A:G	S519P	0.998
17:75874859:C:A	G514V	0.998
17:75874859:C:T	G514D	0.998
17:75874860:C:G	G514R	0.998
17:75874913:C:T	G496E	0.998
17:75874918:G:C	S494R	0.998
17:75874918:G:T	S494R	0.998
17:75874920:T:G	S494R	0.998
17:75874953:A:C	Y483D	0.998
17:75874991:T:G	Q470P	0.998
17:75875005:G:C	F465L	0.998
17:75875005:G:T	F465L	0.998
17:75875006:A:G	F465S	0.998
17:75875007:A:G	F465L	0.998
17:75875047:C:A	R451S	0.998

dbSNP variants (sampled 300 via entrez): RS1000526359 (17:75877052 GACAGGAGGCCTAGT>G), RS1000545846 (17:75880013 C>CAAA), RS1000649482 (17:75879583 TGTTAA>T), RS1000773585 (17:75874183 T>C), RS1001227274 (17:75873988 G>A), RS1002098492 (17:75879476 G>A), RS1002152471 (17:75879266 A>G), RS1002525517 (17:75873966 C>A,T), RS1002652048 (17:75879835 C>T), RS1002692893 (17:75879496 G>C), RS1004041658 (17:75878642 C>A,T), RS1004671299 (17:75877708 G>A), RS1004960730 (17:75877448 C>T), RS1005583070 (17:75877793 T>A,G), RS1006780130 (17:75877544 C>A,T)

Disease associations

OMIM: gene MIM:611041 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
genetic cerebral small vessel disease	Limited	Autosomal dominant

Mondo (1): (MONDO:0018787)

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST001109_1	White matter hyperintensity burden	3.000000e-11
GCST003013_1	White matter hyperintensity burden	5.000000e-19
GCST003013_15	White matter hyperintensity burden	3.000000e-19
GCST004346_59	Psoriasis	1.000000e-08
GCST006062_4	White matter hyperintensity volume	4.000000e-11
GCST007269_129	Pulse pressure	4.000000e-08
GCST010101_18	White matter hyperintensities	5.000000e-36
GCST010726_69	Periventricular white matter hyperintensities	7.000000e-35

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0005665	white matter hyperintensity measurement
EFO:0005763	pulse pressure measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Estradiol	affects cotreatment, increases expression, affects expression, decreases reaction	3
sodium arsenite	affects binding, increases reaction, decreases expression	2
Acetaminophen	decreases expression, increases expression	2
Cyclosporine	decreases expression, increases expression	2
Aflatoxin B1	affects expression, increases methylation	2
aristolochic acid I	increases expression	1
pirinixic acid	increases activity, affects binding, decreases expression	1
bisphenol A	decreases expression	1
beta-lapachone	increases expression	1
isobutyl alcohol	affects cotreatment, increases abundance, increases expression	1
di-n-butylphosphoric acid	affects expression	1
2-palmitoylglycerol	increases expression	1
entinostat	increases expression	1
abrine	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, increases expression	1
(+)-JQ1 compound	decreases expression	1
MT19c compound	decreases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Leflunomide	decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	increases expression	1
Caffeine	affects phosphorylation	1
Catechin	affects cotreatment, increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Gasoline	increases expression, affects cotreatment, increases abundance	1
Lead	affects expression	1
Phthalic Acids	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Polycyclic Aromatic Hydrocarbons	affects cotreatment, increases abundance, increases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_TU30	HAP1 TRIM47 (-) 1	Cancer cell line	Male
CVCL_TU31	HAP1 TRIM47 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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