ABT1

Summary

ABT1 (activator of basal transcription 1, HGNC:17369) is a protein-coding gene on chromosome 6p22.2, encoding Activator of basal transcription 1 (Q9ULW3). Could be a novel TATA-binding protein (TBP) which can function as a basal transcription activator. It is a common-essential gene (DepMap: required in 91.4% of cancer cell lines).

Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA.

Source: NCBI Gene 29777 — RefSeq curated summary.

At a glance

• GWAS associations: 29
• Clinical variants (ClinVar): 57 total
• Cancer dependency (DepMap): dependent in 91.4% of screened cell lines (common-essential)
• MANE Select transcript: NM_013375

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17369
Approved symbol	ABT1
Name	activator of basal transcription 1
Location	6p22.2
Locus type	gene with protein product
Status	Approved
Aliases	Esf2
Ensembl gene	ENSG00000146109
Ensembl biotype	protein_coding
OMIM	618750
Entrez	29777

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000274849, ENST00000931497

RefSeq mRNA: 1 — MANE Select: NM_013375 NM_013375

CCDS: CCDS4616

Canonical transcript exons

ENST00000274849 — 3 exons

Exon	Start	End
ENSE00000973987	26596953	26597223
ENSE00000973988	26597914	26598110
ENSE00001085068	26598265	26600739

Expression profiles

Bgee: expression breadth ubiquitous, 243 present calls, max score 86.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 22.4031 / max 157.3982, expressed in 1814 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
66539	22.4031	1814

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
granulocyte	CL:0000094	86.75	gold quality
leukocyte	CL:0000738	85.62	gold quality
monocyte	CL:0000576	85.47	gold quality
mononuclear cell	CL:0000842	85.47	gold quality
mucosa of transverse colon	UBERON:0004991	84.98	gold quality
epithelium of nasopharynx	UBERON:0001951	84.20	gold quality
nasopharynx	UBERON:0001728	84.19	gold quality
bone marrow	UBERON:0002371	83.28	gold quality
lymph node	UBERON:0000029	83.22	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.17	gold quality
blood	UBERON:0000178	83.16	gold quality
spleen	UBERON:0002106	83.06	gold quality
skin of abdomen	UBERON:0001416	82.71	gold quality
esophagus mucosa	UBERON:0002469	82.53	gold quality
skin of leg	UBERON:0001511	81.91	gold quality
left uterine tube	UBERON:0001303	81.54	gold quality
esophagus	UBERON:0001043	81.35	gold quality
right lobe of liver	UBERON:0001114	81.35	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	81.20	gold quality
zone of skin	UBERON:0000014	81.10	gold quality
transverse colon	UBERON:0001157	80.96	gold quality
small intestine Peyer’s patch	UBERON:0003454	80.92	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	80.92	silver quality
descending thoracic aorta	UBERON:0002345	80.67	gold quality
body of stomach	UBERON:0001161	80.60	gold quality
muscle of leg	UBERON:0001383	80.48	gold quality
stromal cell of endometrium	CL:0002255	80.45	gold quality
gastrocnemius	UBERON:0001388	80.42	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	80.32	gold quality
lower esophagus muscularis layer	UBERON:0035833	80.27	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-7249	no	149.42
E-GEOD-124858	no	144.98
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

70 targeting ABT1, 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-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-MIR-4458	99.96	71.64	1650
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-106A-5P	99.90	73.94	2683
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-17-5P	99.89	73.83	2665
HSA-MIR-106B-5P	99.88	74.72	2795
HSA-MIR-20A-5P	99.88	74.76	2769
HSA-MIR-20B-5P	99.88	74.01	2621
HSA-MIR-519D-3P	99.88	73.97	2607
HSA-MIR-526B-3P	99.88	74.06	2587
HSA-MIR-93-5P	99.88	73.98	2606
HSA-MIR-629-3P	99.85	67.99	1875
HSA-MIR-130B-5P	99.83	68.50	1888
HSA-MIR-3121-3P	99.82	71.96	3630
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-4713-5P	99.78	67.80	1794
HSA-MIR-4645-3P	99.76	69.33	993
HSA-MIR-556-3P	99.74	68.75	1203
HSA-MIR-8084	99.73	69.57	1760
HSA-MIR-378G	99.71	64.90	1106

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 91.4% of screened cell lines, common-essential.

Cross-species orthologs

29 orthologs

Organism	Symbol	Gene ID
danio_rerio	abt1	ENSDARG00000043666
mus_musculus	Abt1	ENSMUSG00000036376
rattus_norvegicus	Abt1	ENSRNOG00000017585
drosophila_melanogaster	CG6999	FBGN0030085
drosophila_melanogaster	CG10993	FBGN0030524
drosophila_melanogaster	CG32706	FBGN0052706
drosophila_melanogaster	CG32708	FBGN0052708
drosophila_melanogaster	CG40813	FBGN0085521
drosophila_melanogaster	CG41562	FBGN0085693
drosophila_melanogaster	CG46504	FBGN0288729
drosophila_melanogaster	CG46505	FBGN0288730
drosophila_melanogaster	CG46506	FBGN0288731
drosophila_melanogaster	CG46507	FBGN0288732
drosophila_melanogaster	CG46508	FBGN0288733
drosophila_melanogaster	CG46509	FBGN0288734
drosophila_melanogaster	CG46510	FBGN0288735
drosophila_melanogaster	CG46511	FBGN0288736
drosophila_melanogaster	CG46512	FBGN0288737
drosophila_melanogaster	CG46513	FBGN0288738
drosophila_melanogaster	CG46514	FBGN0288739
drosophila_melanogaster	CG46515	FBGN0288740
drosophila_melanogaster	CG46516	FBGN0288741
drosophila_melanogaster	CG46517	FBGN0288742
drosophila_melanogaster	CG46518	FBGN0288743
drosophila_melanogaster	CG46519	FBGN0288744
drosophila_melanogaster	CG46520	FBGN0288745
drosophila_melanogaster	CG46521	FBGN0288746
drosophila_melanogaster	CG46522	FBGN0288747
caenorhabditis_elegans	F57B10.8	WBGENE00019005

Protein

Protein identifiers

Activator of basal transcription 1 — Q9ULW3 (reviewed: Q9ULW3)

Alternative names: Basal transcriptional activator

All UniProt accessions (1): Q9ULW3

UniProt curated annotations — full annotation on UniProt →

Function. Could be a novel TATA-binding protein (TBP) which can function as a basal transcription activator. Can act as a regulator of basal transcription for class II genes.

Subunit / interactions. Interacts with ESF1/ABTAP. Interacts with IGHMBP2.

Subcellular location. Nucleus. Nucleolus.

Similarity. Belongs to the ESF2/ABP1 family.

RefSeq proteins (1): NP_037507* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR012677	Nucleotide-bd_a/b_plait_sf	Homologous_superfamily
IPR034353	ABT1/ESF2_RRM	Domain
IPR035979	RBD_domain_sf	Homologous_superfamily
IPR039119	ABT1/Esf2	Family

UniProt features (8 total): region of interest 2, compositionally biased region 2, chain 1, domain 1, coiled-coil region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9ULW3-F1	78.08	0.42

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 (1): 1

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 156 (showing top): GOBP_SPINAL_CORD_DEVELOPMENT, GOBP_RIBOSOME_BIOGENESIS, GOBP_MATURATION_OF_SSU_RRNA, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_RIBOSOME_ASSEMBLY, GOBP_NEUROGENESIS, AAAYRNCTG_UNKNOWN, GOBP_CELL_DIFFERENTIATION_IN_SPINAL_CORD, GOBP_SPINAL_CORD_MOTOR_NEURON_DIFFERENTIATION, GOBP_VENTRAL_SPINAL_CORD_DEVELOPMENT, GOBP_MATURATION_OF_5_8S_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA, GOBP_RIBOSOMAL_SMALL_SUBUNIT_BIOGENESIS, GOBP_MATURATION_OF_SSU_RRNA_FROM_TRICISTRONIC_RRNA_TRANSCRIPT_SSU_RRNA_5_8S_RRNA_LSU_RRNA, GOBP_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION, GOBP_PROTEIN_RNA_COMPLEX_ORGANIZATION

GO Biological Process (9): endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447), endonucleolytic cleavage to generate mature 5’-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472), endonucleolytic cleavage in 5’-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480), regulation of transcription by RNA polymerase II (GO:0006357), transcription by RNA polymerase II (GO:0006366), spinal cord motor neuron differentiation (GO:0021522), small-subunit processome assembly (GO:0034462), regulation of DNA-templated transcription (GO:0006355), positive regulation of DNA-templated transcription (GO:0045893)

GO Molecular Function (5): DNA binding (GO:0003677), transcription coactivator activity (GO:0003713), RNA binding (GO:0003723), nucleic acid binding (GO:0003676), protein binding (GO:0005515)

GO Cellular Component (3): nucleus (GO:0005634), transcription regulator complex (GO:0005667), nucleolus (GO:0005730)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	3
endonucleolytic cleavage of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	3
DNA-templated transcription	3
regulation of DNA-templated transcription	2
nucleic acid binding	2
binding	2
maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	1
rRNA 5’-end processing	1
transcription by RNA polymerase II	1
cell differentiation in spinal cord	1
ventral spinal cord development	1
central nervous system neuron differentiation	1
protein-RNA complex assembly	1
cytosolic small ribosomal subunit assembly	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
positive regulation of RNA biosynthetic process	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
intracellular membrane-bounded organelle	1
protein-containing complex	1
nuclear lumen	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1500 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ABT1	DDX49	Q9Y6V7	960
ABT1	ESF1	Q9H501	876
ABT1	IGHMBP2	P38935	831
ABT1	GTF3C1	Q12789	820
ABT1	DDX10	Q13206	724
ABT1	NGDN	Q8NEJ9	705
ABT1	UTP25	Q68CQ4	663
ABT1	PDCD11	Q14690	646
ABT1	DDX52	Q9Y2R4	646
ABT1	EMG1	Q92979	641
ABT1	BYSL	Q13895	640
ABT1	DHX15	O43143	624
ABT1	RUVBL2	Q9Y230	623
ABT1	BRIX1	Q8TDN6	621
ABT1	AATF	Q9NY61	609

IntAct

174 interactions, top by confidence:

A	B	Type	Score
N	HNRNPR	psi-mi:“MI:0914”(association)	0.730
EMD	ABT1	psi-mi:“MI:0915”(physical association)	0.720
ABT1	CEP70	psi-mi:“MI:0915”(physical association)	0.720
ABT1	EMD	psi-mi:“MI:0915”(physical association)	0.720
CEP70	ABT1	psi-mi:“MI:0915”(physical association)	0.720
TSPYL2	ABT1	psi-mi:“MI:0915”(physical association)	0.670
CA10	WDHD1	psi-mi:“MI:0914”(association)	0.640
LIN28A	IGF2BP3	psi-mi:“MI:0914”(association)	0.640
NPM1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.610
FAM9B	ABT1	psi-mi:“MI:0915”(physical association)	0.560
ABT1	SYNE4	psi-mi:“MI:0915”(physical association)	0.560
ABT1	CDCA7L	psi-mi:“MI:0915”(physical association)	0.560
CCDC136	ABT1	psi-mi:“MI:0915”(physical association)	0.560
ABT1	LZTS2	psi-mi:“MI:0915”(physical association)	0.560
ABT1	FAM9B	psi-mi:“MI:0915”(physical association)	0.560
SYNE4	ABT1	psi-mi:“MI:0915”(physical association)	0.560
CDCA7L	ABT1	psi-mi:“MI:0915”(physical association)	0.560
ABT1	CCDC136	psi-mi:“MI:0915”(physical association)	0.560
ABT1	KANK2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (429): ABT1 (Two-hybrid), CDCA7L (Two-hybrid), CCDC136 (Two-hybrid), CEP70 (Two-hybrid), LZTS2 (Two-hybrid), SYNE4 (Two-hybrid), FAM9B (Two-hybrid), ABT1 (Affinity Capture-MS), ABT1 (Affinity Capture-MS), ABT1 (Co-fractionation), ABT1 (Co-fractionation), ABT1 (Reconstituted Complex), ABT1 (Affinity Capture-MS), ABT1 (Affinity Capture-MS), ABT1 (Affinity Capture-MS)

ESM2 similar proteins: A1C807, A1DIN9, A2QJZ4, A2XIP9, A8ID74, A8JBB2, C0HAV3, O74362, P0CL96, P0CL97, P13994, Q0UM32, Q148M8, Q1DJR2, Q28H71, Q2GZQ4, Q2UB17, Q3LSS0, Q3T0Z5, Q4HZ47, Q4KLM5, Q4WZJ0, Q5AWM5, Q5AX35, Q5BH88, Q5E9F6, Q5M9F1, Q5R9Y3, Q5RAS1, Q5RD68, Q5RJT2, Q5TJE7, Q5ZKM1, Q62481, Q6CFT1, Q6FWS2, Q6P0I6, Q75DA3, Q75LU5, Q7S8W7

Diamond homologs: A1C807, A1DIN9, A2QJZ4, A3LVD5, O74362, P0CL96, P0CL97, P53743, Q0UM32, Q148M8, Q1DJR2, Q2GZQ4, Q2UB17, Q4HZ47, Q4KLM5, Q4WZJ0, Q54BL2, Q59YL9, Q5AWM5, Q5R9Y3, Q6BSS5, Q6CFT1, Q6CSP8, Q6FWS2, Q75DA3, Q7S8W7, Q9ULW3, Q9QYL7, Q3SZM1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 145 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
Eukaryotic Translation Initiation	10	33.5×	3e-12
Cap-dependent Translation Initiation	10	33.5×	3e-12
SARS-CoV-1 modulates host translation machinery	10	33.5×	3e-12
Peptide chain elongation	24	33.1×	7e-29
Viral mRNA Translation	24	33.1×	7e-29
PELO:HBS1L and ABCE1 dissociate a ribosome on a non-stop mRNA	24	32.7×	7e-29
Selenocysteine synthesis	24	31.4×	2e-28
Eukaryotic Translation Termination	24	31.4×	2e-28

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	26	36.2×	3e-31
maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	6	30.4×	4e-06
ribosomal small subunit biogenesis	13	22.3×	3e-12
translation	26	20.1×	3e-24
ribosomal large subunit biogenesis	6	20.0×	5e-05
rRNA processing	16	17.0×	3e-13
negative regulation of viral genome replication	5	14.1×	3e-03
negative regulation of translation	6	8.8×	4e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

278 predictions. Top by Δscore:

Variant	Effect	Δscore
6:26597220:GAGG:G	donor_gain	1.0000
6:26597222:GG:G	donor_gain	1.0000
6:26597223:GG:G	donor_gain	1.0000
6:26597224:G:GA	donor_loss	1.0000
6:26597224:G:GG	donor_gain	1.0000
6:26597225:T:G	donor_loss	1.0000
6:26597904:T:TA	acceptor_gain	1.0000
6:26597905:G:A	acceptor_gain	1.0000
6:26597907:C:CA	acceptor_gain	1.0000
6:26597912:AGACC:A	acceptor_gain	1.0000
6:26597913:GACCG:G	acceptor_gain	1.0000
6:26598107:CAAGG:C	donor_loss	1.0000
6:26598109:AGGTG:A	donor_loss	1.0000
6:26598110:GGTGA:G	donor_loss	1.0000
6:26598111:G:C	donor_loss	1.0000
6:26598112:T:A	donor_loss	1.0000
6:26598256:T:TA	acceptor_gain	1.0000
6:26598262:C:G	acceptor_gain	1.0000
6:26598263:A:AG	acceptor_gain	1.0000
6:26598264:G:GT	acceptor_gain	1.0000
6:26598264:GT:G	acceptor_gain	1.0000
6:26598264:GTA:G	acceptor_gain	1.0000
6:26598264:GTAC:G	acceptor_gain	1.0000
6:26598264:GTACT:G	acceptor_gain	1.0000
6:26597219:TGAGG:T	donor_gain	0.9900
6:26597220:GAGGG:G	donor_gain	0.9900
6:26597221:AGG:A	donor_gain	0.9900
6:26597222:GGG:G	donor_gain	0.9900
6:26597908:GCGCA:G	acceptor_loss	0.9900
6:26597909:C:CA	acceptor_gain	0.9900

AlphaMissense

1757 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:26598007:T:C	F112S	0.999
6:26598099:T:A	W143R	0.998
6:26598099:T:C	W143R	0.998
6:26598277:T:C	F151L	0.998
6:26598279:C:A	F151L	0.998
6:26598279:C:G	F151L	0.998
6:26598285:G:C	W153C	0.998
6:26598285:G:T	W153C	0.998
6:26597997:T:A	W109R	0.997
6:26597997:T:C	W109R	0.997
6:26597999:G:C	W109C	0.997
6:26597999:G:T	W109C	0.997
6:26598006:T:C	F112L	0.997
6:26598008:C:A	F112L	0.997
6:26598008:C:G	F112L	0.997
6:26598025:C:A	A118D	0.997
6:26597208:T:C	F76L	0.996
6:26597210:C:A	F76L	0.996
6:26597210:C:G	F76L	0.996
6:26598029:G:C	K119N	0.996
6:26598029:G:T	K119N	0.996
6:26598283:T:A	W153R	0.996
6:26598283:T:C	W153R	0.996
6:26598017:G:C	K115N	0.995
6:26598017:G:T	K115N	0.995
6:26597119:G:A	G46D	0.994
6:26597125:T:A	V48E	0.993
6:26597995:G:A	G108E	0.993
6:26598101:G:C	W143C	0.993
6:26598101:G:T	W143C	0.993

dbSNP variants (sampled 300 via entrez): RS1000081617 (6:26597780 C>A,T), RS1001223960 (6:26599185 A>G), RS1002192605 (6:26600500 C>T), RS1002255267 (6:26595117 G>A), RS1005200017 (6:26596975 C>T), RS1005747323 (6:26596774 C>G), RS1006336096 (6:26597839 T>C,G), RS1006653013 (6:26598131 G>A,C), RS1007243094 (6:26599974 C>G), RS1009202227 (6:26599279 C>T), RS1009401863 (6:26599596 A>G), RS1010203197 (6:26600942 A>G), RS1011805179 (6:26595614 C>G), RS1012971126 (6:26599107 A>T), RS1013441137 (6:26598695 A>G)

Disease associations

OMIM: gene MIM:618750 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): breast ductal adenocarcinoma (MONDO:0005590)

Orphanet (0):

HPO phenotypes

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

GWAS associations

29 associations (top):

Study	Trait	p-value
GCST004521_113	Autism spectrum disorder or schizophrenia	3.000000e-19
GCST004521_116	Autism spectrum disorder or schizophrenia	3.000000e-16
GCST004521_208	Autism spectrum disorder or schizophrenia	5.000000e-17
GCST004521_215	Autism spectrum disorder or schizophrenia	5.000000e-13
GCST004521_286	Autism spectrum disorder or schizophrenia	5.000000e-08
GCST004521_301	Autism spectrum disorder or schizophrenia	1.000000e-08
GCST004521_69	Autism spectrum disorder or schizophrenia	8.000000e-24
GCST004746_1	Small cell lung carcinoma	1.000000e-06
GCST004748_58	Lung cancer	2.000000e-08
GCST004749_65	Lung cancer in ever smokers	6.000000e-07
GCST005316_413	Intelligence (MTAG)	4.000000e-12
GCST006269_611	General cognitive ability	6.000000e-13
GCST009108_13	Waist circumference variance	5.000000e-15
GCST010002_50	Refractive error	4.000000e-34
GCST010142_16	Fish- and plant-related diet	2.000000e-10
GCST010142_19	Fish- and plant-related diet	4.000000e-10
GCST010142_34	Fish- and plant-related diet	7.000000e-09
GCST010142_35	Fish- and plant-related diet	8.000000e-09
GCST010142_42	Fish- and plant-related diet	1.000000e-08
GCST010142_7	Fish- and plant-related diet	3.000000e-12
GCST010142_74	Fish- and plant-related diet	9.000000e-09
GCST010142_82	Fish- and plant-related diet	3.000000e-08
GCST010702_75	Subcortical volume (MOSTest)	3.000000e-11
GCST010703_272	Brain morphology (MOSTest)	7.000000e-16
GCST012228_143	Waist-hip index	9.000000e-14
GCST012230_341	Waist-to-hip ratio adjusted for BMI	4.000000e-14
GCST012231_240	A body shape index	2.000000e-08
GCST90013421_36	Left-handedness	5.000000e-09
GCST90020028_822	Hip circumference adjusted for BMI	1.000000e-11

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004337	intelligence
EFO:0008111	diet measurement
EFO:0004346	neuroimaging measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0007789	BMI-adjusted waist circumference
EFO:0009902	handedness
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018270	Carcinoma, Ductal, Breast	C04.557.470.200.025.232.500; C04.557.470.615.132.500; C04.588.180.390; C17.800.090.500.390

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

18 total (human), top 18 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	affects methylation, affects cotreatment, increases methylation, decreases expression	2
Benzo(a)pyrene	decreases expression, increases methylation	2
Valproic Acid	increases expression, increases methylation	2
aristolochic acid I	increases expression	1
FR900359	increases phosphorylation	1
triphenyl phosphate	affects expression	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
2,3,5-(triglutathion-S-yl)hydroquinone	increases ADP-ribosylation	1
CGP 52608	affects binding, increases reaction	1
K 7174	decreases expression	1
Sunitinib	increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Lead	affects expression	1
Melphalan	increases expression	1
Ribonucleotides	affects binding	1
Smoke	decreases expression	1
Dronabinol	decreases expression	1
Copper Sulfate	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT03414970	PHASE3	ACTIVE_NOT_RECRUITING	Hypofractionated Radiation Therapy After Mastectomy in Preventing Recurrence in Patients With Stage IIa-IIIa Breast Cancer
NCT00461344	PHASE2	TERMINATED	Docetaxel + Doxorubicin as Neoadjuvant Chemotherapy in Patients With Breast Cancer
NCT07499999	PHASE2	NOT_YET_RECRUITING	Randomized Double-Blind Phase II Trial of Baby Exemestane Versus Baby Tamoxifen in Post-Menopausal Women at High Risk for Breast Cancer
NCT00637364	PHASE1/PHASE2	SUSPENDED	High Intensity Focused Ultrasound Tumor Treatment for Pancreatic Cancer Pain
NCT02779855	PHASE1/PHASE2	COMPLETED	Talimogene Laherparepvec in Combination With Neoadjuvant Chemotherapy in Triple Negative Breast Cancer
NCT01753908	EARLY_PHASE1	COMPLETED	Broccoli Sprout Extract in Treating Patients With Breast Cancer
NCT01796041	EARLY_PHASE1	COMPLETED	Intraoperative Imaging of Breast Cancer With Indocyanine Green
NCT01208974	Not specified	ACTIVE_NOT_RECRUITING	Nipple-Areola Complex (NAC) Irradiation After Nipple-Sparing Mastectomy and Reconstruction
NCT01875198	Not specified	TERMINATED	Oncologic Impact of Splenectomy-omitting Radical Pancreatectomy in Well-selected Left-sided Pancreatic Cancer
NCT03543397	Not specified	UNKNOWN	MRI in Ductal Carcinoma in Situ (DCIS)
NCT03834532	Not specified	COMPLETED	Living Well After Breast Surgery