TRERF1

Summary

TRERF1 (transcriptional regulating factor 1, HGNC:18273) is a protein-coding gene on chromosome 6p21.1, encoding Transcriptional-regulating factor 1 (Q96PN7). Binds DNA and activates transcription of CYP11A1.

This gene encodes a zinc-finger transcriptional regulating protein which interacts with CBP/p300 to regulate the human gene CYP11A1. Alternative splicing results in multiple transcript variants encoding different isoforms.

Source: NCBI Gene 55809 — RefSeq curated summary.

At a glance

• Gene–disease (curated): complex neurodevelopmental disorder (Limited, GenCC)
• GWAS associations: 16
• Clinical variants (ClinVar): 204 total
• Transcription factor: yes — 16 downstream targets (CollecTRI)
• MANE Select transcript: NM_001395490

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18273
Approved symbol	TRERF1
Name	transcriptional regulating factor 1
Location	6p21.1
Locus type	gene with protein product
Status	Approved
Aliases	TReP-132, HSA277276, RAPA, dJ139D8.5
Ensembl gene	ENSG00000124496
Ensembl biotype	protein_coding
OMIM	610322
Entrez	55809

Gene structure

Transcript identifiers

Ensembl transcripts: 51 — 49 protein_coding, 2 nonsense_mediated_decay

ENST00000340840, ENST00000354325, ENST00000372917, ENST00000372922, ENST00000541110, ENST00000695947, ENST00000695948, ENST00000695966, ENST00000868215, ENST00000868216, ENST00000868217, ENST00000868218, ENST00000868219, ENST00000934153, ENST00000934154, ENST00000934155, ENST00000934156, ENST00000934157, ENST00000934158, ENST00000934159, ENST00000934160, ENST00000934161, ENST00000934162, ENST00000934163, ENST00000934164, ENST00000934165, ENST00000934166, ENST00000934167, ENST00000934168, ENST00000934169, ENST00000934170, ENST00000934171, ENST00000934172, ENST00000934173, ENST00000934174, ENST00000934175, ENST00000934176, ENST00000934177, ENST00000934178, ENST00000934179, ENST00000934180, ENST00000934181, ENST00000934182, ENST00000934183, ENST00000934184, ENST00000934185, ENST00000934186, ENST00000934187, ENST00000934188, ENST00000954619, ENST00000954620

RefSeq mRNA: 5 — MANE Select: NM_001395490 NM_001297573, NM_001391983, NM_001391984, NM_001395490, NM_033502

CCDS: CCDS4867, CCDS75455, CCDS93924, CCDS93925

Canonical transcript exons

ENST00000695948 — 18 exons

Exon	Start	End
ENSE00000751236	42236205	42236411
ENSE00000849967	42243248	42243361
ENSE00000974106	42265751	42265797
ENSE00000974107	42264704	42264854
ENSE00000974108	42259339	42259723
ENSE00000974109	42258135	42258201
ENSE00000974110	42256963	42257102
ENSE00000974111	42256728	42256831
ENSE00000974112	42254851	42254926
ENSE00000974113	42246456	42246544
ENSE00001175713	42300638	42300749
ENSE00001175731	42451177	42451261
ENSE00001190134	42268154	42269848
ENSE00001363490	42362997	42363079
ENSE00001671179	42224931	42228669
ENSE00002261002	42263320	42263568
ENSE00003965580	42451674	42451926
ENSE00003965650	42232681	42232928

Expression profiles

Bgee: expression breadth ubiquitous, 214 present calls, max score 85.22.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.9745 / max 70.9671, expressed in 1402 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
73617	1.4203	778
73618	1.2795	551
73614	1.0643	619
73616	0.6038	349
73615	0.4117	216
73619	0.1949	77

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of paranasal sinus	UBERON:0005030	85.22	gold quality
cartilage tissue	UBERON:0002418	82.95	gold quality
Brodmann (1909) area 23	UBERON:0013554	82.77	gold quality
parietal pleura	UBERON:0002400	82.39	gold quality
middle temporal gyrus	UBERON:0002771	82.36	gold quality
blood	UBERON:0000178	82.19	gold quality
pancreatic ductal cell	CL:0002079	81.87	silver quality
epithelial cell of pancreas	CL:0000083	81.77	silver quality
buccal mucosa cell	CL:0002336	81.45	gold quality
primary visual cortex	UBERON:0002436	81.05	gold quality
gingiva	UBERON:0001828	80.97	gold quality
granulocyte	CL:0000094	80.88	gold quality
esophagus squamous epithelium	UBERON:0006920	80.85	gold quality
bronchial epithelial cell	CL:0002328	80.58	gold quality
gingival epithelium	UBERON:0001949	80.47	gold quality
stromal cell of endometrium	CL:0002255	79.77	gold quality
bronchus	UBERON:0002185	79.66	gold quality
oral cavity	UBERON:0000167	79.53	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	79.34	gold quality
ileal mucosa	UBERON:0000331	79.04	silver quality
urinary bladder	UBERON:0001255	78.95	gold quality
esophagus mucosa	UBERON:0002469	78.78	gold quality
leukocyte	CL:0000738	78.70	gold quality
vagina	UBERON:0000996	78.47	gold quality
monocyte	CL:0000576	78.28	gold quality
skin of hip	UBERON:0001554	77.92	gold quality
ventricular zone	UBERON:0003053	77.70	gold quality
occipital lobe	UBERON:0002021	77.59	gold quality
right adrenal gland	UBERON:0001233	77.02	gold quality
right adrenal gland cortex	UBERON:0035827	76.99	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.34

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

16 targets.

Target	Regulation
CCR5	Repression
CCR7	Unknown
CD40	Repression
CD80	Repression
CD86	Repression
CDKN1A	Activation
CDKN1B	Activation
CDKN2A
CYP11A1	Activation
CYP17A1	Activation
FOXP3	Activation
IL4
LILRB1	Repression
LILRB2	Repression
LILRB4	Repression
PGR	Activation

Upstream regulators (CollecTRI, top): E2F1

miRNA regulators (miRDB)

105 targeting TRERF1, 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-4668-3P	100.00	68.74	2635
HSA-MIR-9-5P	100.00	72.28	2361
HSA-MIR-196A-5P	100.00	68.16	684
HSA-MIR-196B-5P	100.00	68.16	681
HSA-MIR-7110-3P	100.00	73.18	2486
HSA-MIR-4673	100.00	66.64	1490
HSA-MIR-4262	100.00	73.26	3931
HSA-MIR-8485	100.00	77.57	4731
HSA-MIR-548AW	99.99	72.57	3559
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4534	99.99	66.58	1907
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-27A-3P	99.98	72.13	2955
HSA-MIR-27B-3P	99.98	72.13	2955
HSA-MIR-9985	99.98	72.11	2939
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-3688-3P	99.97	72.02	2834
HSA-MIR-3658	99.96	73.87	4379
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-205-3P	99.92	69.92	3165
HSA-MIR-589-3P	99.91	69.62	2088
HSA-MIR-8087	99.90	69.55	1351
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777

Literature-anchored findings (GeneRIF, showing 6)

• TReP-132 plays a role in regulating p450scc expression with steroidogenic factor-1 and CBP/p300 (PMID:12101186)
• TReP-132 interacts with steroidogenic factor-1 (SF-1) through specific domains; and along with the interaction with CBP/p300 these factors are postulated to form a complex to regulate expression of the P450scc gene. (PMID:12530663)
• TReP-132 is a trans-acting factor of genes involved in adrenal glucocorticoid, C(19) steroid and estrogen production. (PMID:15072559)
• TReP-132 is a basal cell cycle regulatory protein interacting with Sp1 to activate the p21 and p27 gene promoters. (PMID:15899840)
• identify TReP-132 as a coactivator of progesterone receptor mediating the growth-inhibitory and differentiation effects of progesterone on breast cancer cells (PMID:17015480)
• the present study was the first to identify 2 novel, potentially ‘diseasecausing’ TRERF1 somatic mutations in the endometriotic lesions in 2 out of 92 patients with ovarian endometriosis; therefore, TRERF1 mutations may be involved in the pathogenesis of ovarian endometriosis. (PMID:29393434)

Cross-species orthologs

9 orthologs

Organism	Symbol	Gene ID
danio_rerio		ENSDARG00000088631
mus_musculus	Trerf1	ENSMUSG00000064043
rattus_norvegicus	Trerf1	ENSRNOG00000022598
drosophila_melanogaster	CG16779	FBGN0037698
caenorhabditis_elegans		WBGENE00005006
caenorhabditis_elegans		WBGENE00009224
caenorhabditis_elegans		WBGENE00010012
caenorhabditis_elegans		WBGENE00013632
caenorhabditis_elegans	rcor-1	WBGENE00022278

Paralogs (5): RCOR1 (ENSG00000089902), RCOR3 (ENSG00000117625), ZNF541 (ENSG00000118156), MIDEAS (ENSG00000156030), RCOR2 (ENSG00000167771)

Protein

Protein identifiers

Transcriptional-regulating factor 1 — Q96PN7 (reviewed: Q96PN7)

Alternative names: Breast cancer anti-estrogen resistance 2, Transcriptional-regulating protein 132, Zinc finger protein rapa, Zinc finger transcription factor TReP-132

All UniProt accessions (4): A0A8Q3SI57, A0A8Q3WKV2, Q96PN7, Q05GC8

UniProt curated annotations — full annotation on UniProt →

Function. Binds DNA and activates transcription of CYP11A1. Interaction with CREBBP and EP300 results in a synergistic transcriptional activation of CYP11A1.

Subunit / interactions. Interacts with CREBBP and EP300. Interacts with DNTTIP1. Interacts with DNTT.

Subcellular location. Nucleus.

Tissue specificity. Highest expression was seen in thymus, testis and adrenal cortex, expressed also in the adrenal medulla, thyroid, and stomach. Highly expressed in steroidogenic JEG-3 and MCF-7 cells, low expression was seen in non-steroidogenic Hep-G2 and HEK293 cells.

Isoforms (5)

UniProt ID	Names	Canonical?
Q96PN7-1	1	yes
Q96PN7-2	2, Rapa-1
Q96PN7-3	3, Rapa-2
Q96PN7-4	4
Q96PN7-5	5

RefSeq proteins (5): NP_001284502, NP_001378912, NP_001378913, NP_001382419, NP_277037 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000949	ELM2_dom	Domain
IPR001005	SANT/Myb	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR013087	Znf_C2H2_type	Domain
IPR017884	SANT_dom	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR051066	Trans_reg/Corepressor	Family

Pfam: PF01448, PF13912

UniProt features (44 total): compositionally biased region 13, region of interest 10, modified residue 6, sequence variant 5, zinc finger region 3, splice variant 3, domain 2, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96PN7-F1	49.49	0.09

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 (6): 491, 633, 640, 767, 954, 955

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 210 (showing top): RNGTGGGC_UNKNOWN, ACTACCT_MIR196A_MIR196B, PAX4_01, GOBP_CELLULAR_RESPONSE_TO_LIPID, GCANCTGNY_MYOD_Q6, SP3_Q3, TGACCTY_ERR1_Q2, FOXO4_01, GGGTGGRR_PAX4_03, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, CAGCTG_AP4_Q5, PAX8_B, GOBP_HORMONE_MEDIATED_SIGNALING_PATHWAY, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, FREAC3_01

GO Biological Process (6): regulation of transcription by RNA polymerase II (GO:0006357), negative regulation of DNA-templated transcription (GO:0045892), positive regulation of DNA-templated transcription (GO:0045893), positive regulation of transcription by RNA polymerase II (GO:0045944), progesterone receptor signaling pathway (GO:0050847), cellular response to progesterone stimulus (GO:0071393)

GO Molecular Function (8): transcription coactivator binding (GO:0001223), DNA binding (GO:0003677), transcription coactivator activity (GO:0003713), transcription corepressor activity (GO:0003714), zinc ion binding (GO:0008270), nuclear progesterone receptor binding (GO:0033142), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (6): histone deacetylase complex (GO:0000118), fibrillar center (GO:0001650), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription regulator complex (GO:0005667), cytosol (GO:0005829)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of DNA-templated transcription	3
cellular anatomical structure	3
transcription by RNA polymerase II	2
DNA-templated transcription	2
positive regulation of DNA-templated transcription	2
transcription coregulator activity	2
negative regulation of RNA biosynthetic process	1
positive regulation of RNA biosynthetic process	1
regulation of transcription by RNA polymerase II	1
nuclear receptor-mediated steroid hormone signaling pathway	1
response to progesterone	1
cellular response to steroid hormone stimulus	1
cellular response to ketone	1
transcription coregulator binding	1
nucleic acid binding	1
negative regulation of DNA-templated transcription	1
transition metal ion binding	1
nuclear receptor binding	1
binding	1
cation binding	1
nucleoplasm	1
nuclear protein-containing complex	1
catalytic complex	1
nucleolus	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
protein-containing complex	1
cytoplasm	1

Protein interactions and networks

STRING

606 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TRERF1	DNTTIP1	Q9H147	864
TRERF1	NR5A1	Q13285	688
TRERF1	HDAC1	Q13547	673
TRERF1	CCNG1	P51959	649
TRERF1	HDAC2	Q92769	546
TRERF1	NR0B1	P51843	521
TRERF1	MIDEAS	Q6PJG2	480
TRERF1	KCTD19	Q17RG1	476
TRERF1	CYP21A2	P04033	465
TRERF1	EP300	Q09472	459
TRERF1	CREBBP	Q92793	456
TRERF1	USF1	P22415	455
TRERF1	CYP11B2	P19099	454
TRERF1	ZBTB42	B2RXF5	449
TRERF1	WT1	P19544	428

IntAct

25 interactions, top by confidence:

A	B	Type	Score
HDAC1	CDK2AP1	psi-mi:“MI:0914”(association)	0.840
TRERF1	HDAC1	psi-mi:“MI:0914”(association)	0.790
HDAC1	TNRC18	psi-mi:“MI:0914”(association)	0.790
HDAC1	ZNF609	psi-mi:“MI:0914”(association)	0.730
KEAP1	NFE2L1	psi-mi:“MI:0915”(physical association)	0.700
NEDD4	TRERF1	psi-mi:“MI:0407”(direct interaction)	0.620
YAP1	TRERF1	psi-mi:“MI:0407”(direct interaction)	0.620
ESRRG	TRERF1	psi-mi:“MI:0915”(physical association)	0.560
CD44	PDPK1	psi-mi:“MI:0914”(association)	0.530
PIP	TBKBP1	psi-mi:“MI:0914”(association)	0.530
ITCH	TRERF1	psi-mi:“MI:0407”(direct interaction)	0.440
MIDEAS	SEC16A	psi-mi:“MI:0914”(association)	0.350
SOX2	CBX4	psi-mi:“MI:0914”(association)	0.350
DNTTIP1	PPM1G	psi-mi:“MI:0914”(association)	0.350
TRERF1	SRP19	psi-mi:“MI:0914”(association)	0.350
SDC1	TCAF2	psi-mi:“MI:0914”(association)	0.350
HDAC1	KPNA3	psi-mi:“MI:0914”(association)	0.350
SP7	IGF2BP3	psi-mi:“MI:2364”(proximity)	0.270
ESRRG	TRERF1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (52): TRERF1 (Affinity Capture-RNA), TRERF1 (Affinity Capture-RNA), TRERF1 (Affinity Capture-MS), TRERF1 (Affinity Capture-MS), TRERF1 (Affinity Capture-MS), TRERF1 (Affinity Capture-MS), TRERF1 (Affinity Capture-RNA), TRERF1 (Phenotypic Enhancement), TRERF1 (Reconstituted Complex), TRERF1 (Reconstituted Complex), TRERF1 (Affinity Capture-Western), TRERF1 (Affinity Capture-Western), ESRRG (Two-hybrid), TRERF1 (Reconstituted Complex), TRERF1 (Affinity Capture-Western)

ESM2 similar proteins: A0A0R4IZ84, A0JMU8, A1L1K8, A5D7H5, B2RRE7, O15234, O60293, O75420, P48634, P61129, P61406, Q04637, Q14444, Q1ECZ4, Q1LZB6, Q3TLH4, Q5CZI8, Q5JSZ5, Q5JVS0, Q5M9G3, Q5RAK6, Q5TM26, Q5U236, Q5VK71, Q5XJD3, Q60865, Q6IMN6, Q6MG48, Q6NZJ6, Q7TPM1, Q7TQG1, Q7TQH0, Q7TSC1, Q80XI3, Q86US8, Q8BWW4, Q8BXJ2, Q8BYK8, Q8K3W3, Q8K3X0

Diamond homologs: O75376, Q0GGX2, Q3U3N0, Q4KKX4, Q4R2Z8, Q59E36, Q5REE1, Q5UAK0, Q5ZJ40, Q5ZKT9, Q60974, Q6PGA0, Q6PJG2, Q7T105, Q8BXJ2, Q8N108, Q8N344, Q8QG78, Q96PN7, Q9H0D2, Q9P2K3, Q9Y618, A5PJX4, Q3UHF3, Q4R3R9, Q7Z3K6, Q90WN5, Q20733

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	154
Likely benign	13
Benign	13

Top pathogenic / likely-pathogenic (0)

SpliceAI

4741 predictions. Top by Δscore:

Variant	Effect	Δscore
6:42228668:CT:C	acceptor_gain	1.0000
6:42231497:AG:A	donor_gain	1.0000
6:42232679:A:AC	donor_gain	1.0000
6:42232680:C:CC	donor_gain	1.0000
6:42243242:AC:A	donor_loss	1.0000
6:42243243:C:CG	donor_loss	1.0000
6:42243244:T:TA	donor_loss	1.0000
6:42243245:C:CC	donor_loss	1.0000
6:42243246:A:AC	donor_gain	1.0000
6:42243247:C:CC	donor_gain	1.0000
6:42243247:C:CG	donor_loss	1.0000
6:42243247:CCA:C	donor_gain	1.0000
6:42243247:CCACA:C	donor_gain	1.0000
6:42243357:TTCAC:T	acceptor_gain	1.0000
6:42243358:TCAC:T	acceptor_gain	1.0000
6:42243359:CAC:C	acceptor_gain	1.0000
6:42243359:CACC:C	acceptor_gain	1.0000
6:42243360:AC:A	acceptor_gain	1.0000
6:42243360:ACCT:A	acceptor_loss	1.0000
6:42243361:CC:C	acceptor_gain	1.0000
6:42243362:C:CC	acceptor_gain	1.0000
6:42243362:CTGC:C	acceptor_loss	1.0000
6:42243363:T:G	acceptor_loss	1.0000
6:42243366:C:CT	acceptor_gain	1.0000
6:42243367:G:T	acceptor_gain	1.0000
6:42246450:GCTTA:G	donor_loss	1.0000
6:42246451:CTTAC:C	donor_loss	1.0000
6:42246452:TTACC:T	donor_loss	1.0000
6:42246453:TACCA:T	donor_loss	1.0000
6:42246454:A:AC	donor_gain	1.0000

AlphaMissense

7950 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
6:42228626:G:C	H1108D	1.000
6:42228630:T:A	K1106N	1.000
6:42228630:T:G	K1106N	1.000
6:42228632:T:C	K1106E	1.000
6:42228636:G:C	H1104Q	1.000
6:42228636:G:T	H1104Q	1.000
6:42228638:G:C	H1104D	1.000
6:42228646:C:G	R1101P	1.000
6:42228648:G:C	S1100R	1.000
6:42228648:G:T	S1100R	1.000
6:42228650:T:G	S1100R	1.000
6:42228651:T:A	K1099N	1.000
6:42228651:T:G	K1099N	1.000
6:42228653:T:C	K1099E	1.000
6:42228663:G:C	F1095L	1.000
6:42228663:G:T	F1095L	1.000
6:42228664:A:G	F1095S	1.000
6:42228665:A:G	F1095L	1.000
6:42232687:C:G	C1091S	1.000
6:42232688:A:G	C1091R	1.000
6:42232688:A:T	C1091S	1.000
6:42232695:G:C	C1088W	1.000
6:42232696:C:A	C1088F	1.000
6:42232696:C:G	C1088S	1.000
6:42232696:C:T	C1088Y	1.000
6:42232697:A:G	C1088R	1.000
6:42232697:A:T	C1088S	1.000
6:42232864:C:T	G1032D	1.000
6:42236213:A:G	C1020R	1.000
6:42236227:C:T	C1015Y	1.000

dbSNP variants (sampled 300 via entrez): RS1000032704 (6:42428939 C>G), RS1000040875 (6:42298138 T>G), RS1000045013 (6:42341158 A>G), RS1000045578 (6:42434196 A>G), RS1000057967 (6:42452469 C>G,T), RS1000058876 (6:42386543 T>C), RS1000067724 (6:42338712 C>T), RS1000098470 (6:42338498 A>G), RS1000101074 (6:42436611 C>T), RS1000107402 (6:42383679 C>T), RS1000114035 (6:42297203 T>C), RS1000118777 (6:42249183 CAG>C), RS1000143019 (6:42291450 C>A,G,T), RS1000144248 (6:42232093 G>A), RS1000153988 (6:42232453 G>C,T)

Disease associations

OMIM: gene MIM:610322 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
complex neurodevelopmental disorder	Limited	Autosomal recessive

Mondo (1): complex neurodevelopmental disorder (MONDO:0100038)

Orphanet (0):

HPO phenotypes

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

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST004600_128	Eosinophil percentage of white cells	2.000000e-10
GCST004600_129	Eosinophil percentage of white cells	5.000000e-10
GCST004606_141	Eosinophil count	1.000000e-10
GCST004617_28	Eosinophil percentage of granulocytes	4.000000e-09
GCST004617_29	Eosinophil percentage of granulocytes	9.000000e-10
GCST004623_23	Neutrophil percentage of granulocytes	3.000000e-10
GCST004624_98	Sum eosinophil basophil counts	2.000000e-09
GCST005989_16	Serum total protein levels	4.000000e-09
GCST011743_74	HDL cholesterol levels in HIV infection	9.000000e-07
GCST90002381_152	Eosinophil count	9.000000e-18
GCST90002381_436	Eosinophil count	4.000000e-39
GCST90002382_343	Eosinophil percentage of white cells	1.000000e-35
GCST90002382_344	Eosinophil percentage of white cells	2.000000e-26
GCST90002394_157	Monocyte percentage of white cells	3.000000e-11
GCST90002398_368	Neutrophil count	3.000000e-09
GCST90012857_10	Falling risk	3.000000e-07

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0007991	eosinophil percentage of leukocytes
EFO:0004842	eosinophil count
EFO:0007996	eosinophil percentage of granulocytes
EFO:0007994	neutrophil percentage of granulocytes
EFO:0005090	basophil count
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007989	monocyte percentage of leukocytes
EFO:0004833	neutrophil count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects cotreatment	6
bisphenol A	affects binding, affects folding, decreases reaction, decreases methylation, increases expression	4
trichostatin A	affects cotreatment, decreases expression	3
sodium arsenite	decreases expression, affects cotreatment, increases abundance, increases expression	3
(+)-JQ1 compound	decreases expression	3
Estradiol	decreases expression, affects binding, affects reaction, affects cotreatment	3
S-(1,2-dichlorovinyl)cysteine	increases expression, affects cotreatment, decreases expression, affects response to substance	2
Air Pollutants	decreases expression, increases abundance	2
Cisplatin	affects cotreatment, increases expression, decreases expression	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Tobacco Smoke Pollution	decreases expression	2
Aflatoxin B1	increases expression, increases methylation	2
FR900359	increases phosphorylation	1
TAK-243	increases sumoylation	1
methylmercuric chloride	decreases expression	1
afimoxifene	decreases response to substance	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
butyraldehyde	decreases expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
benzo(e)pyrene	increases methylation	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, decreases expression	1
aflatoxin B2	decreases methylation	1
coumarin	increases phosphorylation	1
epigallocatechin gallate	decreases expression, increases expression, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	decreases expression, affects cotreatment	1
dorsomorphin	decreases expression, affects cotreatment	1
jinfukang	increases expression, affects cotreatment	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06310681	Not specified	COMPLETED	Pilot Testing of a Co-adapted Group Programme for Parents/Carers of Children With Complex Neurodisability
NCT07303049	Not specified	NOT_YET_RECRUITING	Cognitive Benefit of Intensive Rehabilitation Using Rhythmic Music Training in Children With Complex Neurodevelopmental Disorder