SUPT3H

Summary

SUPT3H (SPT3 homolog, SAGA and STAGA complex component, HGNC:11466) is a protein-coding gene on chromosome 6p21.1, encoding Transcription initiation protein SPT3 homolog (O75486). Probable transcriptional activator.

Enables transcription coactivator activity. Involved in regulation of transcription by RNA polymerase II. Located in nucleoplasm. Part of SAGA complex and transcription factor TFTC complex.

Source: NCBI Gene 8464 — RefSeq curated summary.

At a glance

• GWAS associations: 48
• Clinical variants (ClinVar): 78 total
• MANE Select transcript: NM_003599

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11466
Approved symbol	SUPT3H
Name	SPT3 homolog, SAGA and STAGA complex component
Location	6p21.1
Locus type	gene with protein product
Status	Approved
Aliases	SPT3, SPT3L
Ensembl gene	ENSG00000196284
Ensembl biotype	protein_coding
OMIM	602947
Entrez	8464

Gene structure

Transcript identifiers

Ensembl transcripts: 7 — 5 protein_coding, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000371458, ENST00000371459, ENST00000371460, ENST00000459689, ENST00000475057, ENST00000637763, ENST00000889037

RefSeq mRNA: 8 — MANE Select: NM_003599 NM_001261823, NM_001350324, NM_001350325, NM_001350326, NM_001350327, NM_001350329, NM_003599, NM_181356

CCDS: CCDS34465, CCDS34466

Canonical transcript exons

ENST00000371459 — 11 exons

Exon	Start	End
ENSE00001455267	44826726	44829857
ENSE00002163124	45105922	45106006
ENSE00002190130	45014801	45014891
ENSE00003499211	45365201	45365301
ENSE00003745396	45020546	45020632
ENSE00003752206	45003653	45003792
ENSE00003801856	44961753	44961828
ENSE00003806008	44932653	44932763
ENSE00003806890	44954495	44954607
ENSE00003808238	44953310	44953417
ENSE00003847539	45377768	45377934

Expression profiles

Bgee: expression breadth ubiquitous, 206 present calls, max score 89.48.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.0217 / max 146.3959, expressed in 1685 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73788	7.7946	1581
73787	1.4516	904
73786	0.7412	454
73782	0.0329	21
73781	0.0014	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.48	gold quality
sperm	CL:0000019	88.95	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.50	gold quality
oocyte	CL:0000023	87.17	gold quality
male germ cell	CL:0000015	86.48	gold quality
left testis	UBERON:0004533	85.95	gold quality
adrenal tissue	UBERON:0018303	85.69	gold quality
sural nerve	UBERON:0015488	85.54	gold quality
right testis	UBERON:0004534	85.43	gold quality
testis	UBERON:0000473	84.82	gold quality
cartilage tissue	UBERON:0002418	84.02	gold quality
ventricular zone	UBERON:0003053	83.97	gold quality
left ovary	UBERON:0002119	83.30	gold quality
right adrenal gland	UBERON:0001233	83.22	gold quality
cortical plate	UBERON:0005343	82.92	gold quality
left adrenal gland	UBERON:0001234	82.77	gold quality
left adrenal gland cortex	UBERON:0035825	82.70	gold quality
right adrenal gland cortex	UBERON:0035827	82.36	gold quality
embryo	UBERON:0000922	82.16	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	82.16	gold quality
popliteal artery	UBERON:0002250	82.08	gold quality
tibial artery	UBERON:0007610	82.08	gold quality
ganglionic eminence	UBERON:0004023	82.07	gold quality
right ovary	UBERON:0002118	81.96	gold quality
adrenal gland	UBERON:0002369	81.55	gold quality
adrenal cortex	UBERON:0001235	80.65	gold quality
ovary	UBERON:0000992	80.58	gold quality
body of pancreas	UBERON:0001150	80.57	gold quality
endocervix	UBERON:0000458	80.52	gold quality
secondary oocyte	CL:0000655	80.50	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	5.03

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
NEDD4L	Activation

Upstream regulators (CollecTRI, top): TBP

miRNA regulators (miRDB)

169 targeting SUPT3H, 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-3163	100.00	77.23	8605
HSA-MIR-4795-3P	100.00	74.62	4024
HSA-MIR-3646	100.00	73.56	5283
HSA-MIR-450A-1-3P	100.00	69.33	1837
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-511-3P	99.99	68.85	1467
HSA-MIR-3662	99.99	73.82	5684
HSA-MIR-513B-5P	99.99	69.96	2150
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-548AT-5P	99.96	70.83	2666
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488

Literature-anchored findings (GeneRIF, showing 6)

• suggest a novel STAF65gamma-dependent function of STAGA-type complexes in cell proliferation and transcription activation by MYC postloading of TFIID and RNA polymerase II that involves direct recruitment of core Mediator (PMID:17967894)
• Found evidence of Mendelian Transmission Distortion in the region harboring SUPT3H in one HapMap population. (PMID:19259136)
• identified a significant excess of genes with pivotal roles in bone homeostasis, such as PPPT3B and the height associated SUPT3H-RUNX2 (PMID:22407027)
• significance of the formation PVT1- SUPT3H chimeric gene remains unknown and the overexpression of MYC by ectopic promoter on chromosome 6 may be essential to tumor genesis. (PMID:25860292)
• we identified rs41314453 as the main genetic determinant of ADAMTS13 activity, and we present preliminary findings for further associations at the ADAMTS13 and SUPT3H loci. (PMID:25934476)
• Here, genotype at an Osteoarthritis (OA) risk locus correlates with differential DNA methylation, with altered gene expression of both a transcriptional regulator (RUNX2), and a chromatin remodelling protein (SUPT3H). (PMID:30010910)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	supt3h	ENSDARG00000098141
mus_musculus	Supt3	ENSMUSG00000038954
rattus_norvegicus	Supt3h	ENSRNOG00000020153
drosophila_melanogaster	Spt3	FBGN0037981

Paralogs (1): TAF13 (ENSG00000197780)

Protein

Protein identifiers

Transcription initiation protein SPT3 homolog — O75486 (reviewed: O75486)

Alternative names: SPT3-like protein

All UniProt accessions (3): A0A1B0GVT7, O75486, Q5VWT9

UniProt curated annotations — full annotation on UniProt →

Function. Probable transcriptional activator.

Subunit / interactions. Component of the PCAF complex, at least composed of TADA2L/ADA2, SUPT3H, TADA3L/ADA3, TAF5L/PAF65-beta, TAF6L/PAF65-alpha, TAF10/TAFII30, TAF12/TAFII20, TAF9/TAFII31 and TRRAP. Associates with TAFII31 and GCN5L2. Component of the TFTC-HAT complex, at least composed of TAF5L, TAF6L, TADA3L, SUPT3H/SPT3, TAF2/TAFII150, TAF4/TAFII135, TAF5/TAFII100, GCN5L2/GCN5, TAF10 and TRRAP. Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, GCN5L2, TAF5L, TAF6L, SUPT7L, TADA3L, TAD1L, TAF10, TAF12, TRRAP and TAF9. The STAGA core complex is associated with a subcomplex required for histone deubiquitination composed of ATXN7L3, ENY2 and USP22.

Subcellular location. Nucleus.

Tissue specificity. Expressed in all tissues tested including pancreas, kidney, skeletal muscle, liver, lung, placenta, brain and heart.

Similarity. Belongs to the SPT3 family.

Isoforms (2)

UniProt ID	Names	Canonical?
O75486-1	1	yes
O75486-4	2

RefSeq proteins (8): NP_001248752, NP_001337253, NP_001337254, NP_001337255, NP_001337256, NP_001337258, NP_003590, NP_852001 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003195	TFIID_TAF13	Family
IPR009072	Histone-fold	Homologous_superfamily

Pfam: PF02269

UniProt features (27 total): helix 12, sequence conflict 3, strand 3, cross-link 3, chain 1, region of interest 1, turn 1, modified residue 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
9RDK	ELECTRON MICROSCOPY	2.41
7KTR	ELECTRON MICROSCOPY	2.93
8H7G	ELECTRON MICROSCOPY	3.7
7KTS	ELECTRON MICROSCOPY	19.09

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75486-F1	81.73	0.63

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): 1, 112, 123, 163

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-3214847	HATs acetylate histones
R-HSA-3247509	Chromatin modifying enzymes
R-HSA-4839726	Chromatin organization

MSigDB gene sets: 207 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, MORF_ITGA2, NAGY_STAGA_COMPONENTS_HUMAN, MORF_MSH3, MORF_BRCA1, GOBP_REGULATION_OF_DNA_REPAIR, BEIER_GLIOMA_STEM_CELL_DN, MORF_RAD51L3, MUELLER_PLURINET, FREAC3_01, MORF_CTSB, MORF_IL4, MORF_PRKCA, GOBP_REGULATION_OF_RESPONSE_TO_STRESS, GOBP_RNA_SPLICING

GO Biological Process (6): regulation of DNA repair (GO:0006282), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), transcription by RNA polymerase II (GO:0006366), regulation of RNA splicing (GO:0043484), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (2): transcription coactivator activity (GO:0003713), protein heterodimerization activity (GO:0046982)

GO Cellular Component (4): SAGA complex (GO:0000124), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription factor TFTC complex (GO:0033276)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Chromatin modifying enzymes	1
Chromatin organization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	3
regulation of gene expression	2
regulation of DNA-templated transcription	2
SAGA-type complex	2
DNA repair	1
regulation of DNA metabolic process	1
regulation of cellular response to stress	1
regulation of RNA biosynthetic process	1
transcription by RNA polymerase II	1
RNA splicing	1
regulation of primary metabolic process	1
positive regulation of RNA biosynthetic process	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
protein dimerization activity	1
DUBm complex	1
peptidase complex	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
RNA polymerase II, holoenzyme	1
RNA polymerase II transcription regulator complex	1

Protein interactions and networks

STRING

1377 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SUPT3H	KAT2A	Q92830	916
SUPT3H	KAT2B	Q92831	912
SUPT3H	TAF9	Q16594	854
SUPT3H	TADA2A	O75478	829
SUPT3H	SUPT7L	O94864	819
SUPT3H	TADA2B	Q86TJ2	812
SUPT3H	SGF29	Q96ES7	804
SUPT3H	TAF8	Q7Z7C8	761
SUPT3H	TADA3	O75528	758
SUPT3H	TAF5L	O75529	737
SUPT3H	TAF10	Q12962	722
SUPT3H	TAF12	Q16514	721
SUPT3H	SUPT20H	Q8NEM7	697
SUPT3H	TRRAP	Q9Y4A5	680
SUPT3H	TAF6L	Q9Y6J9	675

IntAct

46 interactions, top by confidence:

A	B	Type	Score
SGF29	NDC80	psi-mi:“MI:0914”(association)	0.840
TAF12	TAF4	psi-mi:“MI:0914”(association)	0.760
TRRAP	ATXN7	psi-mi:“MI:0914”(association)	0.740
TADA3	TADA2A	psi-mi:“MI:0914”(association)	0.740
KAT2B	TADA2A	psi-mi:“MI:0914”(association)	0.640
ATXN7L3	USP27X	psi-mi:“MI:0914”(association)	0.640
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
TADA2B	SUPT3H	psi-mi:“MI:0914”(association)	0.530
SUPT20H	ATXN7	psi-mi:“MI:0914”(association)	0.530
TAF6L	ATXN7	psi-mi:“MI:0914”(association)	0.530
TAF6L	SUPT3H	psi-mi:“MI:0914”(association)	0.530
TRRAP	TTI2	psi-mi:“MI:0914”(association)	0.350
SGF29	TRRAP	psi-mi:“MI:0914”(association)	0.350
KAT2A	TAF4	psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
ZNRD2	KRBA1	psi-mi:“MI:0914”(association)	0.350
ATXN7L3	USP27X	psi-mi:“MI:0914”(association)	0.350
TAF6L	ATXN7	psi-mi:“MI:0914”(association)	0.350
SGF29	DTNB	psi-mi:“MI:0914”(association)	0.350
TADA3	TADA2A	psi-mi:“MI:0914”(association)	0.350
USP22	CNOT1	psi-mi:“MI:0914”(association)	0.350
ATXN7	SUPT3H	psi-mi:“MI:0914”(association)	0.350
SGF29	USP27X	psi-mi:“MI:0914”(association)	0.350
SF3B3	ATXN7	psi-mi:“MI:0914”(association)	0.350

BioGRID (180): SUPT3H (Protein-peptide), SUPT3H (Affinity Capture-MS), SUPT3H (Affinity Capture-MS), SUPT3H (Affinity Capture-MS), SUPT3H (Affinity Capture-MS), SUPT3H (Affinity Capture-MS), SF3B3 (Affinity Capture-Western), SUPT3H (Synthetic Growth Defect), SUPT3H (Affinity Capture-Western), SUPT20H (Affinity Capture-Western), USP22 (Affinity Capture-Western), SUPT3H (Affinity Capture-MS), SUPT3H (Affinity Capture-MS), SUPT3H (Affinity Capture-MS), SUPT3H (Affinity Capture-MS)

ESM2 similar proteins: A4IFQ0, A6QL63, A6QR06, A7MAZ4, O75486, P54198, Q08BT5, Q0VA03, Q13769, Q14161, Q15022, Q1LVW0, Q28J24, Q3B7L5, Q5BJQ7, Q5RDB9, Q5ZJA9, Q5ZMS1, Q61666, Q62784, Q66H91, Q68FF6, Q68FX7, Q6DEW4, Q6GMF2, Q6GQW0, Q6ZPY2, Q76JQ2, Q7Z7C8, Q7ZYA2, Q80U70, Q8BIK4, Q8BKT7, Q8C0Q9, Q8NFG4, Q8QZS3, Q96BN2, Q96MD2, Q96PE3, Q99LM9

Diamond homologs: O13472, O14311, O75486, P06844, Q54CN8, Q6NQH4, O60076, P11747, P61216, Q148M7, Q15543, Q5R9W6

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
SUPT3H	“form complex”	“SAGA 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
Formation of WDR5-containing histone-modifying complexes	5	42.8×	5e-06
HATs acetylate histones	14	35.8×	6e-17
Chromatin organization	13	34.2×	1e-15
Chromatin modifying enzymes	13	30.3×	5e-15
Epigenetic regulation by WDR5-containing histone modifying complexes	5	24.9×	5e-05
Deubiquitination	6	24.0×	6e-06
Ub-specific processing proteases	7	12.0×	5e-05
Epigenetic regulation of gene expression	5	11.5×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
regulation of DNA repair	17	114.5×	1e-29
regulation of cell division	5	93.4×	1e-07
regulation of RNA splicing	16	85.4×	1e-25
regulation of embryonic development	5	40.3×	7e-06
chromatin remodeling	7	12.5×	5e-05
regulation of cell cycle	6	10.9×	5e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	53
Likely benign	5
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

6090 predictions. Top by Δscore:

Variant	Effect	Δscore
6:44932648:CGTA:C	donor_gain	1.0000
6:44932649:GT:G	donor_loss	1.0000
6:44932650:T:TG	donor_loss	1.0000
6:44932651:A:AC	donor_gain	1.0000
6:44932652:C:CT	donor_gain	1.0000
6:44932652:CT:C	donor_gain	1.0000
6:44932759:GTGCT:G	acceptor_gain	1.0000
6:44932760:TGCT:T	acceptor_gain	1.0000
6:44932761:GCT:G	acceptor_gain	1.0000
6:44932762:CT:C	acceptor_gain	1.0000
6:44932762:CTC:C	acceptor_gain	1.0000
6:44932763:TC:T	acceptor_loss	1.0000
6:44932763:TCT:T	acceptor_gain	1.0000
6:44932764:C:A	acceptor_gain	1.0000
6:44932764:C:CA	acceptor_loss	1.0000
6:44932764:C:CC	acceptor_gain	1.0000
6:44932770:C:CT	acceptor_gain	1.0000
6:44932771:A:T	acceptor_gain	1.0000
6:44935110:T:A	donor_gain	1.0000
6:44953305:CTTA:C	donor_loss	1.0000
6:44953306:TTACC:T	donor_loss	1.0000
6:44953307:TACC:T	donor_loss	1.0000
6:44953308:A:AC	donor_gain	1.0000
6:44953308:ACCTC:A	donor_loss	1.0000
6:44953309:C:CC	donor_gain	1.0000
6:44953309:CCT:C	donor_gain	1.0000
6:44953414:CTAA:C	acceptor_gain	1.0000
6:44953415:TAA:T	acceptor_gain	1.0000
6:44953415:TAAC:T	acceptor_loss	1.0000
6:44953416:AA:A	acceptor_gain	1.0000

AlphaMissense

2116 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:44953405:C:G	A236P	0.999
6:44954581:A:G	W203R	0.999
6:44954581:A:T	W203R	0.999
6:44961767:C:G	R189P	0.999
6:45003659:T:A	R166S	0.999
6:45003659:T:G	R166S	0.999
6:45003660:C:G	R166T	0.999
6:45014875:A:G	L97P	0.999
6:45020623:C:G	A66P	0.999
6:44953404:G:T	A236D	0.998
6:44954514:G:T	A225E	0.998
6:44961755:A:G	F193S	0.998
6:44961778:G:C	F185L	0.998
6:44961778:G:T	F185L	0.998
6:44961780:A:G	F185L	0.998
6:44961825:C:G	A170P	0.998
6:45020556:C:G	R88P	0.998
6:45105923:A:G	L62P	0.998
6:45105995:C:A	G38V	0.998
6:44932691:G:T	R292S	0.997
6:44953407:A:G	L235P	0.997
6:44954515:C:G	A225P	0.997
6:44954579:C:A	W203C	0.997
6:44954579:C:G	W203C	0.997
6:44954589:A:G	F200S	0.997
6:44961779:A:G	F185S	0.997
6:44961789:A:G	Y182H	0.997
6:44961826:T:A	R169S	0.997
6:44961826:T:G	R169S	0.997
6:45014884:A:G	L94P	0.997

dbSNP variants (sampled 300 via entrez): RS1000007020 (6:44869423 G>A), RS1000008091 (6:45173307 C>T), RS1000012354 (6:44945918 G>A), RS1000012766 (6:45087703 T>C), RS1000015023 (6:44825955 T>C,G), RS1000019512 (6:45256958 G>A), RS1000023526 (6:45265967 C>T), RS1000028540 (6:44952049 G>GA), RS1000030947 (6:44917471 T>A), RS1000036985 (6:45242460 C>T), RS1000037781 (6:45159369 A>C,G), RS1000043040 (6:44909875 A>G), RS1000062947 (6:45347510 C>A,T), RS1000063736 (6:45251259 T>C), RS1000065564 (6:45227352 T>C)

Disease associations

OMIM: gene MIM:602947 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

48 associations (top):

Study	Trait	p-value
GCST000175_49	Height	8.000000e-06
GCST000246_18	Attention deficit hyperactivity disorder	5.000000e-06
GCST000522_2	Height	8.000000e-06
GCST001482_15	Lumbar spine bone mineral density	6.000000e-11
GCST001592_3	Osteoarthritis	6.000000e-07
GCST001659_1	Stroke (ischemic)	5.000000e-08
GCST001762_32	Obesity-related traits	2.000000e-06
GCST001956_27	Height	5.000000e-11
GCST002288_9	Large artery stroke	2.000000e-07
GCST002545_6	Ossification of the posterior longitudinal ligament of the spine	9.000000e-09
GCST002647_53	Height	1.000000e-20
GCST002702_97	Height	2.000000e-06
GCST002881_4	ADAMTS13 activity	1.000000e-08
GCST003264_482	Post bronchodilator FEV1/FVC ratio	3.000000e-06
GCST003264_983	Post bronchodilator FEV1/FVC ratio	2.000000e-06
GCST003472_11	Oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder	8.000000e-06
GCST003472_8	Oppositional defiant disorder dimensions in attention-deficit hyperactivity disorder	3.000000e-06
GCST003637_2	facial morphology traits (multivariate analysis)	9.000000e-10
GCST003853_3	Hip minimal joint space width	2.000000e-10
GCST003853_4	Hip minimal joint space width	1.000000e-09
GCST003983_34	Male-pattern baldness	3.000000e-09
GCST003989_3	Chin dimples	3.000000e-08
GCST003996_39	Monobrow	6.000000e-16
GCST003999_12	Nose size	1.000000e-08
GCST006110_32	Nose morphology	1.000000e-06
GCST006288_127	Heel bone mineral density	2.000000e-21
GCST006288_128	Heel bone mineral density	2.000000e-08
GCST006288_224	Heel bone mineral density	5.000000e-26
GCST006288_225	Heel bone mineral density	5.000000e-18
GCST006288_545	Heel bone mineral density	5.000000e-47

EFO canonical traits (15, from GWAS)

EFO ID	Trait name
EFO:0004627	IGF-1 measurement
EFO:0006955	ADAMTS13 activity measurement
EFO:0004713	FEV/FVC ratio
EFO:0007679	oppositional defiant disorder measurement
EFO:0007873	cartilage thickness measurement
EFO:0007906	synophrys measurement
EFO:0009270	heel bone mineral density
EFO:0004695	intraocular pressure measurement
EFO:0004530	triglyceride measurement
EFO:0005658	response to selective serotonin reuptake inhibitor
EFO:0004980	appendicular lean mass
EFO:0004587	lymphocyte count
EFO:0004533	alkaline phosphatase measurement
EFO:0008039	BMI-adjusted hip circumference
EFO:0007789	BMI-adjusted waist circumference

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression	5
sodium arsenite	affects expression, decreases expression, decreases methylation, increases expression	4
Valproic Acid	decreases expression, decreases methylation	3
Cyclosporine	increases expression	3
Aflatoxin B1	decreases expression, decreases methylation, affects expression	3
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	2
Cadmium Chloride	decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
TAK-243	decreases sumoylation	1
methyleugenol	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
abrine	increases expression	1
jinfukang	affects cotreatment, decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Air Pollutants	affects methylation, increases abundance	1
Cadmium	decreases expression, increases abundance	1
Cisplatin	affects cotreatment, decreases expression	1
Formaldehyde	decreases expression	1
Methotrexate	decreases expression	1
N-Nitrosopyrrolidine	decreases expression	1
Niclosamide	increases expression	1
Nitrogen Oxides	affects methylation, increases abundance	1
Silicon Dioxide	increases methylation	1
Dronabinol	decreases expression	1
Tretinoin	decreases expression	1

Clinical trials (associated diseases)

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