CFDP1

Summary

CFDP1 (chromatin remodeling protein CFDP1, HGNC:1873) is a protein-coding gene on chromosome 16q23.1, encoding Heterochromatin-stabilizing protein CFDP1 (Q9UEE9). Required for the structural stability of pericentromeric heterochromatin. It is a selective cancer dependency (DepMap: 36.8% of cell lines).

Predicted to be involved in chromatin remodeling. Predicted to act upstream of or within several processes, including cell adhesion; negative regulation of fibroblast apoptotic process; and regulation of cell shape. Predicted to be located in kinetochore. Predicted to be part of Swr1 complex.

Source: NCBI Gene 10428 — RefSeq curated summary.

At a glance

• GWAS associations: 41
• Clinical variants (ClinVar): 66 total — 1 pathogenic
• Cancer dependency (DepMap): dependent in 36.8% of screened cell lines
• MANE Select transcript: NM_006324

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1873
Approved symbol	CFDP1
Name	chromatin remodeling protein CFDP1
Location	16q23.1
Locus type	gene with protein product
Status	Approved
Aliases	BCNT, p97, CP27, SWC5, Yeti, CENP-29
Ensembl gene	ENSG00000153774
Ensembl biotype	protein_coding
OMIM	608108
Entrez	10428

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 10 protein_coding, 5 protein_coding_CDS_not_defined, 2 retained_intron, 1 nonsense_mediated_decay

ENST00000283882, ENST00000562602, ENST00000564286, ENST00000564793, ENST00000565646, ENST00000566254, ENST00000566901, ENST00000569341, ENST00000570103, ENST00000570279, ENST00000612761, ENST00000862205, ENST00000862206, ENST00000862207, ENST00000915295, ENST00000915296, ENST00000915297, ENST00000915298

RefSeq mRNA: 1 — MANE Select: NM_006324 NM_006324

CCDS: CCDS10916

Canonical transcript exons

ENST00000283882 — 7 exons

Exon	Start	End
ENSE00001106961	75395090	75395209
ENSE00001143801	75293710	75294042
ENSE00001143809	75433289	75433503
ENSE00003474087	75412535	75412754
ENSE00003520463	75305024	75305182
ENSE00003614312	75414578	75414695
ENSE00003636436	75411825	75411952

Expression profiles

Bgee: expression breadth ubiquitous, 300 present calls, max score 98.27.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 48.1399 / max 792.0327, expressed in 1816 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
158166	47.0767	1816
158161	0.7995	295
158165	0.2192	81
158160	0.0445	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
ganglionic eminence	UBERON:0004023	98.27	gold quality
cortical plate	UBERON:0005343	97.89	gold quality
calcaneal tendon	UBERON:0003701	97.82	gold quality
ventricular zone	UBERON:0003053	97.74	gold quality
colonic epithelium	UBERON:0000397	97.46	gold quality
mucosa of transverse colon	UBERON:0004991	97.25	gold quality
endometrium epithelium	UBERON:0004811	97.23	gold quality
tendon	UBERON:0000043	97.21	gold quality
right testis	UBERON:0004534	97.20	gold quality
tendon of biceps brachii	UBERON:0008188	97.20	gold quality
sural nerve	UBERON:0015488	97.06	gold quality
embryo	UBERON:0000922	97.04	gold quality
jejunal mucosa	UBERON:0000399	97.00	gold quality
left testis	UBERON:0004533	97.00	gold quality
bronchial epithelial cell	CL:0002328	96.80	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	96.80	gold quality
left ovary	UBERON:0002119	96.63	gold quality
medial globus pallidus	UBERON:0002477	96.59	gold quality
rectum	UBERON:0001052	96.53	gold quality
endocervix	UBERON:0000458	96.52	gold quality
epithelium of bronchus	UBERON:0002031	96.49	gold quality
spleen	UBERON:0002106	96.42	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.41	gold quality
ovary	UBERON:0000992	96.35	gold quality
right ovary	UBERON:0002118	96.35	gold quality
cingulate cortex	UBERON:0003027	96.33	gold quality
bronchus	UBERON:0002185	96.31	gold quality
anterior cingulate cortex	UBERON:0009835	96.31	gold quality
amygdala	UBERON:0001876	96.30	gold quality
Brodmann (1909) area 10	UBERON:0013541	96.28	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.93
E-GEOD-125970	yes	8.30
E-HCAD-31	no	516.16

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

55 targeting CFDP1, 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-30A-5P	100.00	76.31	3233
HSA-MIR-30B-5P	100.00	76.29	3248
HSA-MIR-30C-5P	100.00	76.29	3248
HSA-MIR-30D-5P	100.00	76.32	3233
HSA-MIR-30E-5P	100.00	76.32	3242
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-548AB	99.95	71.31	3488
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-23A-3P	99.95	74.24	3163
HSA-MIR-23B-3P	99.95	74.24	3163
HSA-MIR-23C	99.95	73.92	3192
HSA-MIR-548A-5P	99.94	71.27	3482
HSA-MIR-548AD-5P	99.94	71.23	3502
HSA-MIR-548AE-5P	99.94	71.23	3502
HSA-MIR-548AK	99.94	71.24	3488
HSA-MIR-548AM-5P	99.94	71.24	3488
HSA-MIR-548AP-5P	99.94	71.14	3489
HSA-MIR-548AQ-5P	99.94	71.34	3426
HSA-MIR-548AR-5P	99.94	71.28	3515
HSA-MIR-548AS-5P	99.94	71.22	3482
HSA-MIR-548AU-5P	99.94	71.24	3488
HSA-MIR-548AY-5P	99.94	71.23	3502
HSA-MIR-548B-5P	99.94	71.23	3502
HSA-MIR-548BB-5P	99.94	71.27	3509
HSA-MIR-548C-5P	99.94	71.24	3488
HSA-MIR-548D-5P	99.94	71.23	3502
HSA-MIR-548H-5P	99.94	71.24	3488
HSA-MIR-548I	99.94	71.25	3481

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 36.8% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 7)

• includes the region derived from a long interspersed nucleotide (PMID:11831036)
• This study identified rs4888378 in the BCAR1-CFDP1-TMEM170A locus as a novel genetic determinant of carotid intima-media thickness and coronary artery disease risk. (PMID:23152477)
• Bcnt/Cfdp1 is acetylated in vitro by CREB-binding protein (CBP) and four lysine residues including Lys(268) in BCNT-C are also acetylated in vivo, revealing a protein regulated at multiple levels. (PMID:26182435)
• Overall, these findings highlight unanticipated evidences suggesting that homodimerization mediated by the BCNT domain is integral to the chromatin functions of BCNT proteins. (PMID:27151176)
• Our findings provide new insight into the chromatin functions and mechanisms of the CFDP1 protein and contribute to our understanding of the link between epigenetic regulation and the onset of human complex developmental disorders. (PMID:28367969)
• CFDP1 promotes hepatocellular carcinoma progression through activating NEDD4/PTEN/PI3K/AKT signaling pathway. (PMID:35861040)
• CFDP1 is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity. (PMID:36425957)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	cfdp1	ENSDARG00000095086
mus_musculus	Cfdp1	ENSMUSG00000031954
rattus_norvegicus	Cfdp1	ENSRNOG00000019326

Protein

Protein identifiers

Heterochromatin-stabilizing protein CFDP1 — Q9UEE9 (reviewed: Q9UEE9)

Alternative names: Bucentaur, Craniofacial development protein 1

All UniProt accessions (4): Q9UEE9, A0A087WXQ2, H3BQ17, J3KT89

UniProt curated annotations — full annotation on UniProt →

Function. Required for the structural stability of pericentromeric heterochromatin. Regulates heterochromatin state by stabilizing CBX5/HP1alpha and H3K9me3 at major satellites and CENPA at minor satellites and is required for incorporation of histone H2AZ1/H2AZ into chromatin. Maintenance of chromatin structure promotes binding of guanine-nucleotide releasing factor RCC1 to minor and major satellite repeats. Chromatin-bound RCC1 maintains high levels of GTP-bound RAN near the centromeric heterochromatin, facilitating RAN-mediated microtubule nucleation during mitosis. Plays a role in craniofacial development. Required to maintain normal cell function in embryonic development.

Subunit / interactions. Interacts with the SRCAP chromatin remodeling complex.

Subcellular location. Chromosome. Centromere. Kinetochore. Nucleus.

Tissue specificity. Ubiquitous.

Post-translational modifications. Phosphorylated by CK2 (casein kinase II) in vitro.

Domain organisation. The N-terminal and C-terminal regions are both required for binding to chromatin.

Similarity. Belongs to the SWC5/CFDP1/CFDP2 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UEE9-1	1	yes
Q9UEE9-2	2

RefSeq proteins (1): NP_006315* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011421	BCNT-C	Domain
IPR027124	Swc5/CFDP1/2	Family

Pfam: PF07572

UniProt features (31 total): modified residue 15, compositionally biased region 6, region of interest 3, chain 1, domain 1, cross-link 1, splice variant 1, sequence variant 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UEE9-F1	64.86	0.13

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 (16): 21, 26, 57, 82, 85, 86, 102, 116, 126, 187, 216, 219, 230, 250, 268, 150

Mutagenesis-validated functional residues (1):

Position	Phenotype
250	altered electrophoretic mobility.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 195 (showing top): GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_UP, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, MORF_MTA1, MORF_MBD4, GOBP_REGULATION_OF_CELL_MORPHOGENESIS, MORF_RAB5A, GGGNRMNNYCAT_UNKNOWN, PAL_PRMT5_TARGETS_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MORF_RAD21, RIZKI_TUMOR_INVASIVENESS_3D_DN, BROWNE_HCMV_INFECTION_12HR_UP, MORF_PSMC2, MODULE_331

GO Biological Process (6): chromatin remodeling (GO:0006338), cell adhesion (GO:0007155), regulation of cell shape (GO:0008360), regulation of cell population proliferation (GO:0042127), fibroblast apoptotic process (GO:0044346), negative regulation of fibroblast apoptotic process (GO:2000270)

GO Molecular Function (0):

GO Cellular Component (4): kinetochore (GO:0000776), Swr1 complex (GO:0000812), chromosome, centromeric region (GO:0000775), chromosome (GO:0005694)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membraneless organelle	2
chromatin organization	1
cellular process	1
regulation of cell morphogenesis	1
regulation of biological quality	1
cell population proliferation	1
regulation of cellular process	1
apoptotic process	1
negative regulation of apoptotic process	1
fibroblast apoptotic process	1
regulation of fibroblast apoptotic process	1
condensed chromosome, centromeric region	1
supramolecular complex	1
histone deacetylase complex	1
nuclear chromosome	1
INO80-type complex	1
chromosomal region	1

Protein interactions and networks

STRING

1504 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CFDP1	VPS72	Q15906	949
CFDP1	YEATS4	O95619	928
CFDP1	DMAP1	Q9NPF5	871
CFDP1	TMEM170A	Q8WVE7	849
CFDP1	H2AZ1	P0C0S5	777
CFDP1	RUVBL1	P82276	756
CFDP1	RUVBL2	Q9Y230	731
CFDP1	ETS1	P14921	718
CFDP1	GTF2I	P78347	577
CFDP1	ARMC2	Q8NEN0	565
CFDP1	SPATA9	Q9BWV2	541
CFDP1	BCAR1	P56945	516
CFDP1	VPS54	Q9P1Q0	505
CFDP1	SRCAP	Q6ZRS2	490
CFDP1	CCDC38	Q502W7	485

IntAct

40 interactions, top by confidence:

A	B	Type	Score
RIOK1	PRMT5	psi-mi:“MI:0914”(association)	0.710
H2AC4	PPM1G	psi-mi:“MI:0914”(association)	0.670
H2BC1	PPM1G	psi-mi:“MI:0914”(association)	0.640
H2BC26	PPM1G	psi-mi:“MI:0914”(association)	0.530
H2AC18	PPM1G	psi-mi:“MI:0914”(association)	0.530
H2AC20	PPM1G	psi-mi:“MI:0914”(association)	0.530
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
CFDP1	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
CFDP1	HNRNPA1L2	psi-mi:“MI:0915”(physical association)	0.400
SMAD3	CFDP1	psi-mi:“MI:0915”(physical association)	0.370
EWSR1	CFDP1	psi-mi:“MI:0915”(physical association)	0.370
RBPJ	RPA2	psi-mi:“MI:0914”(association)	0.350
ID2	CLASP2	psi-mi:“MI:0914”(association)	0.350
TALDO1	PDE6D	psi-mi:“MI:0914”(association)	0.350
CFDP1	REC8	psi-mi:“MI:0914”(association)	0.350
H2AZ1	SUPT5H	psi-mi:“MI:0914”(association)	0.350
H2BC21	SMCHD1	psi-mi:“MI:0914”(association)	0.350
RAB18	ASDURF	psi-mi:“MI:0914”(association)	0.350
RUVBL2	ASDURF	psi-mi:“MI:0914”(association)	0.350
RUVBL1	ASDURF	psi-mi:“MI:0914”(association)	0.350
TOP1	DDX39A	psi-mi:“MI:0914”(association)	0.350
hspa1a_hspa1b_human-1	SHTN1	psi-mi:“MI:0914”(association)	0.350
H2AC11	U2SURP	psi-mi:“MI:0914”(association)	0.350
H2AC4	MPHOSPH10	psi-mi:“MI:0914”(association)	0.350
LMNA	SMCHD1	psi-mi:“MI:2364”(proximity)	0.270

BioGRID (95): CFDP1 (Affinity Capture-MS), CFDP1 (Affinity Capture-MS), CFDP1 (Two-hybrid), RUVBL1 (Co-fractionation), RUVBL2 (Co-fractionation), CFDP1 (Proximity Label-MS), CFDP1 (Affinity Capture-MS), CFDP1 (Affinity Capture-MS), CFDP1 (Affinity Capture-MS), CFDP1 (Affinity Capture-MS), CFDP1 (Proximity Label-MS), CFDP1 (Proximity Label-MS), CFDP1 (Proximity Label-MS), CFDP1 (Proximity Label-MS), CFDP1 (Synthetic Lethality)

ESM2 similar proteins: A4L691, D3ZTQ1, O75151, O88271, P35689, Q07G43, Q08288, Q12872, Q14241, Q24K12, Q2KJE1, Q3KRF3, Q3TFK5, Q3USH5, Q4ADK4, Q4ADK7, Q4V842, Q566R3, Q5BJN8, Q5RET9, Q5T3I0, Q5U3K5, Q5ZJJ1, Q5ZK28, Q60FC2, Q63187, Q68FU8, Q6AYK5, Q6IQ49, Q6NRI5, Q6P859, Q6PFK1, Q75QI0, Q75UQ2, Q7T293, Q7TN31, Q7ZVC9, Q8CB77, Q8CIL4, Q8HXY9

Diamond homologs: O02751, O88271, Q32L59, Q4ADK4, Q4ADK7, Q588U8, Q60FC2, Q75UQ2, Q8HXY9, Q9UEE9, P38326, Q5A8H7, Q5BER4, Q6CKH1, Q6FML0, Q754T8, Q75QI0, O74897, Q4I650, Q4WRE2, Q6BWZ7, Q6C7G8, Q7RYI3

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 51 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
FXIIa activates plasma kallikrein-kinin system	9	38.9×	1e-10
Packaging Of Telomere Ends	7	38.4×	4e-09
RNA Polymerase I Promoter Opening	8	36.8×	7e-10
ChAHP complex assembly	8	36.8×	7e-10
Deposition of new CENPA-containing nucleosomes at the centromere	9	35.7×	2e-10
DNA methylation	8	35.7×	9e-10
Recognition and association of DNA glycosylase with site containing an affected purine	7	35.7×	7e-09
Cleavage of the damaged purine	7	35.7×	7e-09

GO biological processes:

GO term	Partners	Fold	FDR
heterochromatin formation	6	31.9×	1e-05
nucleosome assembly	5	14.6×	5e-03
chromatin remodeling	6	9.1×	7e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	45
Likely benign	7
Benign	0

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
3063405	GRCh37/hg19 16q23.1(chr16:75407039-75524905)x1	Pathogenic

SpliceAI

2300 predictions. Top by Δscore:

Variant	Effect	Δscore
16:75305022:ACC:A	donor_gain	1.0000
16:75305023:CCC:C	donor_gain	1.0000
16:75305023:CCCCT:C	donor_gain	1.0000
16:75305072:T:TA	donor_gain	1.0000
16:75305182:CCTAA:C	acceptor_loss	1.0000
16:75305183:C:CC	acceptor_gain	1.0000
16:75305183:CTAA:C	acceptor_loss	1.0000
16:75395082:ATACT:A	donor_loss	1.0000
16:75395084:ACT:A	donor_loss	1.0000
16:75395085:CTCA:C	donor_loss	1.0000
16:75395086:T:TC	donor_loss	1.0000
16:75395087:C:CC	donor_loss	1.0000
16:75395088:A:AC	donor_gain	1.0000
16:75395088:A:C	donor_loss	1.0000
16:75395088:AC:A	donor_gain	1.0000
16:75395089:C:CC	donor_gain	1.0000
16:75395089:CC:C	donor_gain	1.0000
16:75395208:CC:C	acceptor_gain	1.0000
16:75395209:CC:C	acceptor_gain	1.0000
16:75411820:CTTA:C	donor_loss	1.0000
16:75411823:A:AC	donor_gain	1.0000
16:75411823:A:AT	donor_loss	1.0000
16:75411824:C:CC	donor_gain	1.0000
16:75411824:CCTTA:C	donor_gain	1.0000
16:75411949:CTTT:C	acceptor_gain	1.0000
16:75411950:TTT:T	acceptor_gain	1.0000
16:75411951:TT:T	acceptor_gain	1.0000
16:75411953:C:CC	acceptor_gain	1.0000
16:75411955:A:C	acceptor_gain	1.0000
16:75412531:TTACC:T	donor_loss	1.0000

AlphaMissense

1983 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
16:75293983:C:G	R290P	1.000
16:75294013:C:G	R280P	1.000
16:75294021:G:C	F277L	1.000
16:75294021:G:T	F277L	1.000
16:75294022:A:C	F277C	1.000
16:75294022:A:G	F277S	1.000
16:75294023:A:G	F277L	1.000
16:75305089:C:A	W248C	1.000
16:75305089:C:G	W248C	1.000
16:75305090:C:G	W248S	1.000
16:75305091:A:G	W248R	1.000
16:75305091:A:T	W248R	1.000
16:75293973:C:A	R293S	0.999
16:75293973:C:G	R293S	0.999
16:75293974:C:A	R293M	0.999
16:75293974:C:G	R293T	0.999
16:75293994:A:C	F286L	0.999
16:75293994:A:T	F286L	0.999
16:75293996:A:G	F286L	0.999
16:75294019:A:G	L278P	0.999
16:75294031:C:G	R274P	0.999
16:75305036:C:G	R266P	0.999
16:75305051:A:G	L261P	0.999
16:75305077:C:A	K252N	0.999
16:75305077:C:G	K252N	0.999
16:75305096:A:G	L246P	0.999
16:75305103:A:G	S244P	0.999
16:75305104:C:A	K243N	0.999
16:75305104:C:G	K243N	0.999
16:75305111:A:G	L241P	0.999

dbSNP variants (sampled 300 via entrez): RS1000016793 (16:75433065 C>A,T), RS1000028135 (16:75362928 A>C,G), RS1000058442 (16:75332400 A>G), RS1000062648 (16:75362645 T>A), RS1000087704 (16:75401225 A>C,G), RS1000089023 (16:75368047 T>C), RS1000110168 (16:75294964 A>G), RS1000111157 (16:75410637 G>A), RS1000123119 (16:75327346 A>T), RS1000143252 (16:75294503 T>A), RS1000149628 (16:75328172 A>C), RS1000168668 (16:75376595 G>A), RS1000212162 (16:75421902 T>C), RS1000213021 (16:75390576 A>T), RS1000216737 (16:75341445 G>T)

Disease associations

OMIM: gene MIM:608108 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

41 associations (top):

Study	Trait	p-value
GCST001248_11	Pulmonary function	2.000000e-11
GCST001784_32	Pulmonary function (smoking interaction)	2.000000e-08
GCST002553_10	Pancreatic cancer	1.000000e-10
GCST003720_35	Migraine	3.000000e-10
GCST003986_22	Migraine	6.000000e-08
GCST004147_24	Chronic obstructive pulmonary disease	1.000000e-11
GCST004183_13	Lung function (FEV1)	4.000000e-06
GCST004185_49	Lung function (FEV1/FVC)	4.000000e-10
GCST004279_37	Systolic blood pressure	2.000000e-12
GCST004651_7	Aortic root size	3.000000e-10
GCST004858_22	Dupuytren’s disease	5.000000e-10
GCST004860_129	Alcoholic chronic pancreatitis	8.000000e-07
GCST004860_137	Alcoholic chronic pancreatitis	7.000000e-06
GCST004860_154	Alcoholic chronic pancreatitis	1.000000e-07
GCST005194_174	Coronary artery disease	1.000000e-15
GCST005195_3	Coronary artery disease	2.000000e-16
GCST005196_19	Coronary artery disease	6.000000e-15
GCST005337_24	Headache	1.000000e-08
GCST006190_3	Diastolic blood pressure x smoking status (ever vs never) interaction (2df test)	7.000000e-08
GCST006192_51	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	1.000000e-12
GCST006192_74	Systolic blood pressure x smoking status (ever vs never) interaction (2df test)	1.000000e-18
GCST006193_36	Diastolic blood pressure x smoking status (current vs non-current) interaction (2df test)	2.000000e-07
GCST006195_18	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	2.000000e-12
GCST006195_68	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	2.000000e-18
GCST006195_80	Systolic blood pressure x smoking status (current vs non-current) interaction (2df test)	4.000000e-06
GCST007096_240	Pulse pressure	6.000000e-17
GCST007099_177	Systolic blood pressure	8.000000e-12
GCST007267_231	Systolic blood pressure	1.000000e-19
GCST007269_296	Pulse pressure	1.000000e-19
GCST007430_130	Peak expiratory flow	3.000000e-32

EFO canonical traits (11, from GWAS)

EFO ID	Trait name
EFO:0003892	pulmonary function measurement
EFO:0004713	FEV/FVC ratio
EFO:0004314	forced expiratory volume
EFO:0006335	systolic blood pressure
EFO:0004229	Dupuytren Contracture
EFO:0006336	diastolic blood pressure
EFO:0006527	smoking status measurement
EFO:0005763	pulse pressure measurement
EFO:0009718	peak expiratory flow
EFO:0009783	carotid atherosclerosis
EFO:0009931	Agents acting on the renin-angiotensin system use measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

28 total (human), top 28 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, affects cotreatment, increases expression	3
aristolochic acid I	decreases expression	1
GSK-J4	increases expression	1
dicrotophos	decreases expression	1
bufotalin	increases expression	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
trichostatin A	increases expression	1
potassium chromate(VI)	decreases expression	1
CGP 52608	affects binding, increases reaction	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Decitabine	affects expression	1
Sunitinib	decreases expression	1
Acetaminophen	increases expression	1
Atrazine	increases expression	1
Benzo(a)pyrene	increases expression	1
Cisplatin	affects expression	1
Cuprizone	affects cotreatment, decreases expression	1
Diuron	decreases expression	1
Haloperidol	affects cotreatment, decreases expression	1
Ivermectin	decreases expression	1
Thiram	decreases expression	1
Vanadates	increases expression	1
Aflatoxin B1	decreases methylation	1
Antirheumatic Agents	increases expression	1
Copper Sulfate	decreases expression	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

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