CDPF1

Summary

CDPF1 (cysteine rich DPF motif domain containing 1, HGNC:33710) is a protein-coding gene on chromosome 22q13.31, encoding Cysteine-rich DPF motif domain-containing protein 1 (Q6NVV7).

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 29 total
• GTEx eGene: eQTL in 26 tissues, sQTL in 40 (q < 0.05)
• Constraint (gnomAD): pLI 0.01 (LoF-tolerant), LOEUF 1.57 (unconstrained)
• MANE Select transcript: NM_207327

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:33710
Approved symbol	CDPF1
Name	cysteine rich DPF motif domain containing 1
Location	22q13.31
Locus type	gene with protein product
Status	Approved
Aliases	CDKN1A
Ensembl gene	ENSG00000205643
Ensembl biotype	protein_coding
Entrez	150383

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 29 protein_coding, 2 nonsense_mediated_decay, 2 protein_coding_CDS_not_defined

MANE Select: ENST00000314567

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 1: 2, TSL 2: 2, TSL 3: 2

ENST00000314567, ENST00000381037, ENST00000404583, ENST00000404744, ENST00000474256, ENST00000475605, ENST00000904358, ENST00000904359, ENST00000904360, ENST00000904361, ENST00000904362, ENST00000904363, ENST00000904364, ENST00000904365, ENST00000904366, ENST00000904367, ENST00000931570, ENST00000931571, ENST00000931572, ENST00000931573, ENST00000962067, ENST00000962068, ENST00000990198, ENST00000990199, ENST00000990200, ENST00000990201, ENST00000990202, ENST00000990203, ENST00000990204, ENST00000990205, ENST00001049310, ENST00001127565, ENST00001131992

RefSeq mRNA: 1 — MANE Select: NM_207327 NM_207327

CCDS: CCDS33670

Canonical transcript exons

ENST00000314567 — 4 exons

Exon	Start	End
ENSE00001487305	46244013	46245238
ENSE00001916377	46250256	46250293
ENSE00002287394	46248172	46248284
ENSE00003511837	46247110	46247221

Expression profiles

Bgee: expression breadth ubiquitous, 174 present calls, max score 86.75.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.5664 / max 27.0833, expressed in 1664 samples.

Highest expression (Bgee): pancreatic ductal cell, tibialis anterior, apex of heart, muscle layer of sigmoid colon, adrenal gland.

Genetic regulation across tissues (GTEx eQTL / sQTL)

CDPF1 is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 26 tissues and its splicing (sQTL) in 40 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

showing 20 of 66 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Esophagus Muscularis	sqtl	9.1e-41	-1.81	22:46250265:C:A
Thyroid	sqtl	2.2e-40	-1.62	22:46246007:C:T
Cells Cultured fibroblasts	sqtl	3.0e-36	-1.43	22:46248280:G:A
Muscle Skeletal	sqtl	2.5e-32	-1.30	22:46250265:C:A
Artery Tibial	sqtl	2.6e-29	-1.32	22:46245622:G:A
Cells EBV-transformed lymphocytes	sqtl	1.4e-28	-1.69	22:46245622:G:A
Colon Sigmoid	sqtl	4.5e-28	-1.60	22:46250265:C:A
Adipose Subcutaneous	sqtl	6.2e-24	-1.18	22:46250265:C:A
Nerve Tibial	sqtl	2.1e-22	-1.15	22:46245622:G:A
Esophagus Gastroesophageal Junction	sqtl	3.2e-21	-1.53	22:46245622:G:A
Breast Mammary Tissue	sqtl	1.3e-20	-1.30	22:46245622:G:A
Colon Transverse	sqtl	1.7e-20	-1.36	22:46245622:G:A
Skin Sun Exposed Lower leg	sqtl	3.1e-19	-0.99	22:46245622:G:A
Whole Blood	eqtl	2.1e-18	+0.30	22:46247535:C:G
Thyroid	eqtl	9.3e-17	+0.39	22:46248087:A:C
Adipose Visceral Omentum	sqtl	1.5e-16	-1.25	22:46250265:C:A
Prostate	sqtl	2.0e-16	-1.83	22:46250265:C:A
Spleen	sqtl	2.5e-16	-1.54	22:46250265:C:A
Adrenal Gland	sqtl	1.3e-15	-1.91	22:46250265:C:A
Pituitary	eqtl	1.5e-15	+0.42	22:46248743:A:G

FANTOM5 promoters

1 alternative TSS:

Promoter ID	TPM avg	Samples expressed
194601	4.5664	1664

Top tissues by expression

showing 100 of 241 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
pancreatic ductal cell	CL:0002079	86.75	silver quality
tibialis anterior	UBERON:0001385	85.72	gold quality
apex of heart	UBERON:0002098	84.37	gold quality
muscle layer of sigmoid colon	UBERON:0035805	82.72	gold quality
right adrenal gland	UBERON:0001233	82.55	gold quality
lower esophagus	UBERON:0013473	82.47	gold quality
lower esophagus muscularis layer	UBERON:0035833	82.47	gold quality
right adrenal gland cortex	UBERON:0035827	82.11	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	82.01	gold quality
left adrenal gland	UBERON:0001234	81.86	gold quality
left adrenal gland cortex	UBERON:0035825	81.79	gold quality
granulocyte	CL:0000094	81.77	gold quality
gastrocnemius	UBERON:0001388	81.37	gold quality
body of uterus	UBERON:0009853	81.22	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.14	gold quality
adrenal cortex	UBERON:0001235	81.14	gold quality
muscle of leg	UBERON:0001383	81.07	gold quality
right lobe of thyroid gland	UBERON:0001119	81.03	gold quality
mucosa of stomach	UBERON:0001199	80.59	gold quality
right ovary	UBERON:0002118	80.56	gold quality
right coronary artery	UBERON:0001625	80.52	gold quality
deltoid	UBERON:0001476	80.51	silver quality
endocervix	UBERON:0000458	80.49	gold quality
heart left ventricle	UBERON:0002084	80.38	gold quality
popliteal artery	UBERON:0002250	80.38	gold quality
tibial artery	UBERON:0007610	80.37	gold quality
left ovary	UBERON:0002119	80.35	gold quality
left ventricle myocardium	UBERON:0006566	80.14	gold quality
cardiac muscle of right atrium	UBERON:0003379	80.10	gold quality
cardiac ventricle	UBERON:0002082	80.06	gold quality
mucosa of transverse colon	UBERON:0004991	80.02	gold quality
adrenal gland	UBERON:0002369	79.97	gold quality
left coronary artery	UBERON:0001626	79.96	gold quality
left lobe of thyroid gland	UBERON:0001120	79.91	gold quality
aorta	UBERON:0000947	79.82	gold quality
left uterine tube	UBERON:0001303	79.69	gold quality
spleen	UBERON:0002106	79.59	gold quality
right hemisphere of cerebellum	UBERON:0014890	79.54	gold quality
coronary artery	UBERON:0001621	79.50	gold quality
right uterine tube	UBERON:0001302	79.44	gold quality
cerebellar hemisphere	UBERON:0002245	79.44	gold quality
hindlimb stylopod muscle	UBERON:0004252	79.34	gold quality
cerebellar cortex	UBERON:0002129	79.31	gold quality
stromal cell of endometrium	CL:0002255	79.24	gold quality
thoracic aorta	UBERON:0001515	79.22	gold quality
ascending aorta	UBERON:0001496	79.18	gold quality
metanephros cortex	UBERON:0010533	79.16	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	79.15	gold quality
right atrium auricular region	UBERON:0006631	79.11	gold quality
cardiac atrium	UBERON:0002081	79.00	gold quality
heart	UBERON:0000948	78.98	gold quality
body of stomach	UBERON:0001161	78.89	gold quality
ectocervix	UBERON:0012249	78.89	gold quality
thyroid gland	UBERON:0002046	78.84	gold quality
descending thoracic aorta	UBERON:0002345	78.65	gold quality
esophagus	UBERON:0001043	78.59	gold quality
tibial nerve	UBERON:0001323	78.56	gold quality
prefrontal cortex	UBERON:0000451	78.44	gold quality
cerebellum	UBERON:0002037	78.40	gold quality
lower esophagus mucosa	UBERON:0035834	78.26	gold quality
spinal cord	UBERON:0002240	78.22	gold quality
fundus of stomach	UBERON:0001160	78.20	gold quality
kidney epithelium	UBERON:0004819	78.18	gold quality
transverse colon	UBERON:0001157	78.03	gold quality
ovary	UBERON:0000992	77.64	gold quality
right lobe of liver	UBERON:0001114	77.62	gold quality
leukocyte	CL:0000738	77.59	gold quality
lymph node	UBERON:0000029	77.59	gold quality
body of pancreas	UBERON:0001150	77.53	gold quality
muscle tissue	UBERON:0002385	77.47	gold quality
smooth muscle tissue	UBERON:0001135	77.46	gold quality
monocyte	CL:0000576	77.42	gold quality
adenohypophysis	UBERON:0002196	77.38	gold quality
right frontal lobe	UBERON:0002810	77.35	gold quality
amygdala	UBERON:0001876	77.30	gold quality
colon	UBERON:0001155	77.24	gold quality
small intestine Peyer’s patch	UBERON:0003454	77.24	gold quality
ileal mucosa	UBERON:0000331	77.15	gold quality
cortex of kidney	UBERON:0001225	77.08	gold quality
minor salivary gland	UBERON:0001830	76.97	gold quality
pituitary gland	UBERON:0000007	76.91	gold quality
skeletal muscle tissue	UBERON:0001134	76.87	gold quality
pancreas	UBERON:0001264	76.82	gold quality
stomach	UBERON:0000945	76.75	gold quality
prostate gland	UBERON:0002367	76.69	gold quality
large intestine	UBERON:0000059	76.59	gold quality
Brodmann (1909) area 9	UBERON:0013540	76.53	gold quality
omental fat pad	UBERON:0010414	76.52	gold quality
peritoneum	UBERON:0002358	76.50	gold quality
putamen	UBERON:0001874	76.46	gold quality
anterior cingulate cortex	UBERON:0009835	76.41	gold quality
subcutaneous adipose tissue	UBERON:0002190	76.39	gold quality
skin of leg	UBERON:0001511	76.34	gold quality
tendon of biceps brachii	UBERON:0008188	76.27	gold quality
ventricular zone	UBERON:0003053	76.26	gold quality
intestine	UBERON:0000160	76.20	gold quality
islet of Langerhans	UBERON:0000006	76.16	gold quality
small intestine	UBERON:0002108	76.08	gold quality
right lung	UBERON:0002167	76.05	gold quality
adipose tissue of abdominal region	UBERON:0007808	75.92	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.15

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 76 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Frontal cortex	tissue	26.8
Caudate putamen	tissue	26.0
Ovary	tissue	8.6
Corpus callosum	tissue	7.7
Amygdala	tissue	7.6
Superior colliculi	tissue	7.6
Cerebellum	tissue	7.6
Hippocampal formation	tissue	7.5
Spinal cord	tissue	7.4
Olfactory bulb	tissue	7.4
Cerebral cortex	tissue	7.1
Putamen	tissue	7.1
Medulla oblongata	tissue	7.1
Thalamus	tissue	7.1
Septum	tissue	7.1
Insular cortex	tissue	7.1
Basal ganglia	tissue	7.0
Midbrain	tissue	7.0
Pituitary gland	tissue	6.9
Skeletal muscle	tissue	6.9
Substantia nigra	tissue	6.9
Thymus	tissue	6.9
Ventral forebrain	tissue	6.8
Retrosplenial cortex	tissue	6.8
Pons	tissue	6.7
Periaqueductal gray	tissue	6.7
Hypothalamus	tissue	6.6
Prefrontal cortex	tissue	6.5
Entorhinal cortex	tissue	6.5
Retrosplenial and cingulate cortex	tissue	6.5
Somatosensory cortex	tissue	6.5
Heart muscle	tissue	6.4
Temporal cortex	tissue	6.4
Salivary gland	tissue	6.3
Vagina	tissue	6.2
Motor cortex	tissue	6.2
Lymph node	tissue	5.9
Parathyroid gland	tissue	5.8
Choroid plexus	tissue	5.8
Occipital cortex	tissue	5.8
Fallopian tube	tissue	5.7
Adrenal gland	tissue	5.6
Tongue	tissue	5.4
Nucleus accumbens	tissue	5.3
Hippocampus	tissue	5.2
Thyroid gland	tissue	4.9
Spleen	tissue	4.9
Locus coeruleus	tissue	4.9
Seminal vesicle	tissue	4.8
Prostate	tissue	4.6
Smooth muscle	tissue	4.5
Endometrium 1	tissue	4.3
Postcentral gyrus	tissue	4.3
Skin 1	tissue	4.2
Pancreas	tissue	4.1
Cervix	tissue	4.0
Stomach 1	tissue	3.9
Small intestine	tissue	3.9
Duodenum	tissue	3.9
Appendix	tissue	3.9

Brain sub-regions (HPA Brain Atlas): detected in 189; highest nTPM — Area postrema (8.0), Ventral medullary reticular nucleus (7.8), White matter (7.7), Ventral hippocampus (7.5), Piriform cortex (7.4).

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

Targeting CDPF1 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

showing 30 of 40 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-4697-3P	99.89	67.09	1123
HSA-MIR-9902	99.89	69.15	2250
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-205-5P	99.81	70.05	1557
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-378A-5P	99.65	66.33	1311
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-6839-3P	99.39	68.86	1301
HSA-MIR-542-3P	99.34	67.58	1270
HSA-MIR-664A-3P	99.22	71.08	2696
HSA-MIR-4292	99.16	65.57	1767
HSA-MIR-6791-5P	99.16	65.92	1844
HSA-MIR-4270	99.02	66.26	1987
HSA-MIR-939-3P	98.97	65.07	2347
HSA-MIR-4755-3P	98.77	65.59	1915
HSA-MIR-423-5P	98.69	67.48	1522
HSA-MIR-6754-5P	98.60	65.54	1627
HSA-MIR-3184-5P	98.56	67.13	1491
HSA-MIR-4704-3P	98.28	69.33	1300

Functional genomics

gnomAD constraint: pLI 0.0101, LOEUF 1.57, missense Z 0.311 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000314567 — one region, missense o/e 0.97.

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	cdpf1	ENSDARG00000095705
mus_musculus	Cdpf1	ENSMUSG00000064284
rattus_norvegicus	Cdpf1	ENSRNOG00000032846
drosophila_melanogaster	CG11755	FBGN0037611
caenorhabditis_elegans		WBGENE00008434
caenorhabditis_elegans		WBGENE00271706

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Bos taurus	Q0VCH3	77.1%	Diamond
Gallus gallus	Q5ZKB8	69.0%	Diamond
Xenopus laevis	A1L2W7	66.1%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
GTSE1-DT	ncRNA	150384
PPARA	protein-coding	5465
TTC38	protein-coding	55020
PKDREJ	protein-coding	10343
MIRLET7BHG	ncRNA	400931
MIRLET7B	ncRNA	406884
MIR4763	ncRNA	100616143
GTSE1	protein-coding	51512

Protein

Protein identifiers

Cysteine-rich DPF motif domain-containing protein 1 — Q6NVV7 (reviewed: Q6NVV7)

All UniProt accessions (4): F6RAJ7, F6UL18, H9KV78, Q6NVV7

UniProt curated annotations — full annotation on UniProt →

Similarity. Belongs to the CDPF1 family.

RefSeq proteins (1): NP_997210* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR018785	CDPF1_dom	Domain
IPR042426	CDPF1	Family

Pfam: PF10170

UniProt features (6 total): sequence variant 2, chain 1, region of interest 1, compositionally biased region 1, sequence conflict 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6NVV7-F1	87.30	0.67

Human Protein Atlas

Protein class: Predicted intracellular proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): cytosol; nucleoplasm

Antibody reliability (HPA): IH uncertain · IF approved

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 1052 (showing top): GOBP_REGULATION_OF_CELL_ACTIVATION, SA_G2_AND_M_PHASES, WU_APOPTOSIS_BY_CDKN1A_VIA_TP53, MODULE_52, GOBP_REGULATION_OF_LEUKOCYTE_PROLIFERATION, AP1_01, GOBP_POSITIVE_REGULATION_OF_DNA_REPLICATION, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_RESPONSE_TO_IONIZING_RADIATION, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTRINSIC_APOPTOTIC_SIGNALING_PATHWAY_IN_RESPONSE_TO_DNA_DAMAGE_BY_P53_CLASS_MEDIATOR, FREAC2_01, HNF3ALPHA_Q6, GOBP_NEGATIVE_REGULATION_OF_SMOOTH_MUSCLE_CELL_PROLIFERATION, HARRIS_HYPOXIA

GO Molecular Function (1): protein binding (GO:0005515)

GO top-level categories

1 GO namespaces:

Category	Terms
binding	1

Protein interactions and networks

STRING

showing 15 of 122 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CDPF1	PKDREJ	Q9NTG1	551
CDPF1	ATXN10	Q9UBB4	545
CDPF1	LMF2	Q9BU23	403
CDPF1	DNLZ	Q5SXM8	365
CDPF1	PPP6R2	O75170	360
CDPF1	TUBGCP6	Q96RT7	323
CDPF1	WDR89	Q96FK6	320
CDPF1	WNT7B	P56706	299
CDPF1	PSMD9	O00233	298
CDPF1	XPNPEP3	Q9NQH7	297
CDPF1	SBF1	O95248	296
CDPF1	SMDT1	Q9H4I9	285
CDPF1	CHKB	Q9Y259	277
CDPF1	NUP50	Q9UKX7	274
CDPF1	TAS2R8	Q9NYW2	260

IntAct

Human interaction partners of CDPF1 in IntAct, one row per partner (best MIscore; records = supporting IntAct interaction records).

19 partners by confidence:

Partner	Interaction type	MIscore	Records
BHLHE40	physical association	0.560	3
CATSPER1	physical association	0.560	3
CREB5	physical association	0.560	3
DDIT4L	physical association	0.560	3
EFEMP2	physical association	0.560	3
ENKD1	physical association	0.560	3
FAM221A	physical association	0.560	3
FRS3	physical association	0.560	3
HDAC4	physical association	0.560	3
HOXA1	physical association	0.560	3
KCTD9	physical association	0.560	3
MISP	physical association	0.560	3
PHLDA1	physical association	0.560	3
TFAP2D	physical association	0.560	3
VGLL3	physical association	0.560	3
ZIC1	physical association	0.560	3
DHX34	physical association	0.500	1
PTGER4	physical association	0.370	1
USP4	association	0.350	2

BioGRID (37 interactions; top human partners by supporting records): APP (Reconstituted Complex), BHLHE40 (Two-hybrid), CATSPER1 (Two-hybrid), CREB5 (Two-hybrid), DDIT4L (Two-hybrid), DHX30 (Affinity Capture-MS), DHX34 (Affinity Capture-MS), EFEMP2 (Two-hybrid), ENKD1 (Two-hybrid), FAM221A (Two-hybrid), FRS3 (Two-hybrid), HDAC4 (Two-hybrid), HOXA1 (Two-hybrid), KCTD9 (Two-hybrid), LGALS4 (Two-hybrid)

Disease & clinical

Genetic variants

Variant evidence for CDPF1: 29 ClinVar records (0 pathogenic / likely pathogenic); 1 GWAS association.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	21
Likely benign	2
Benign	0

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 31 predictions of 766):

Position(s)	Effect	Δscore	Sites
22:46247127	donor_gain	1.0000
22:46245239	acceptor_loss	0.9900	2
22:46245240	acceptor_gain	0.9900
22:46247222–46247223	acceptor_loss	0.9900	6
22:46248210	donor_gain	0.9900
22:46245215	acceptor_gain	0.9800
22:46245239–46245240	acceptor_loss	0.9800	3
22:46248285–46248286	acceptor_loss	0.9800	6
22:46250254–46250255	donor_loss	0.9800	5
22:46247104–46247105	donor_loss	0.9700	5

AlphaMissense

232 missense substitutions predicted likely pathogenic (of 800 scored), across 55 residues. Top 20 hotspot residues, ranked by the number of likely-pathogenic substitutions (of those reachable by a single-nucleotide change), then by mean score:

Residue	Likely-pathogenic substitutions	Mean am_pathogenicity	Max am_pathogenicity
F13	8	0.925	0.980
F97	8	0.913	0.974
F50	8	0.879	0.973
S78	8	0.855	0.984
D48	8	0.835	0.911
F80	7	0.967	0.991
C86	7	0.935	0.968
C64	7	0.930	0.956
C72	7	0.929	0.970
C77	7	0.915	0.967
F85	7	0.902	0.979
C89	7	0.902	0.929
C15	7	0.886	0.947
E41	7	0.874	0.951
C18	7	0.872	0.927
C67	7	0.871	0.918
G61	6	0.896	0.961
R84	6	0.887	0.954
P98	6	0.887	0.910
V71	6	0.752	0.925

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Disease associations

OMIM: gene `` | disease phenotypes:

GWAS associations

1 associations:

Study	Trait	p-value
GCST010173_173	Triglyceride levels	2e-10

EFO canonical traits (from GWAS)

1 canonical traits:

EFO ID	Trait name
EFO:0004530	triglyceride measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

22 total (human), top 22 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, increases methylation	2
bisphenol F	affects cotreatment, increases methylation	1
triphenyl phosphate	affects expression	1
beta-lapachone	decreases expression	1
sodium arsenite	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	decreases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
Sunitinib	decreases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Benzo(a)pyrene	increases methylation	1
Doxorubicin	decreases expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression	1
Thiram	decreases expression	1
Tretinoin	decreases expression	1
Aflatoxin B1	increases methylation	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1
Acrylamide	decreases expression	1
Particulate Matter	increases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.