PCF11

Summary

PCF11 (PCF11 cleavage and polyadenylation factor subunit, HGNC:30097) is a protein-coding gene on chromosome 11q14.1, encoding Pre-mRNA cleavage complex 2 protein Pcf11 (O94913). Component of pre-mRNA cleavage complex II, which promotes transcription termination by RNA polymerase II. It is a common-essential gene (DepMap: required in 96.9% of cancer cell lines).

The protein encoded by this gene binds to CLP1 to form pre-mRNA cleavage factor IIm. The encoded protein is necessary for efficient Pol II transcription termination and may be involved in degradation of the 3’ product of polyA site cleavage.

Source: NCBI Gene 51585 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 156 total
• Cancer dependency (DepMap): dependent in 96.9% of screened cell lines (common-essential)
• MANE Select transcript: NM_001346413

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:30097
Approved symbol	PCF11
Name	PCF11 cleavage and polyadenylation factor subunit
Location	11q14.1
Locus type	gene with protein product
Status	Approved
Aliases	KIAA0824
Ensembl gene	ENSG00000165494
Ensembl biotype	protein_coding
OMIM	608876
Entrez	51585

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 1 retained_intron, 1 TEC

ENST00000298281, ENST00000528336, ENST00000530304, ENST00000530660, ENST00000530906, ENST00000533018, ENST00000624931, ENST00000690938, ENST00000932062

RefSeq mRNA: 4 — MANE Select: NM_001346413 NM_001346413, NM_001346414, NM_001346415, NM_015885

CCDS: CCDS44689, CCDS91554

Canonical transcript exons

ENST00000690938 — 16 exons

Exon	Start	End
ENSE00001093579	83177714	83177819
ENSE00001093581	83171818	83171914
ENSE00001093584	83163679	83163867
ENSE00001093585	83177085	83177204
ENSE00001093586	83181008	83181191
ENSE00001093588	83165600	83166714
ENSE00001093591	83161327	83161452
ENSE00001093593	83167125	83167308
ENSE00001093594	83164207	83164401
ENSE00001093596	83183038	83183073
ENSE00001157426	83168428	83169995
ENSE00002186474	83167415	83167898
ENSE00003490892	83181854	83182009
ENSE00003565074	83182399	83182491
ENSE00003925459	83157131	83157631
ENSE00003931918	83184679	83185794

Expression profiles

Bgee: expression breadth ubiquitous, 260 present calls, max score 97.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.5444 / max 349.2632, expressed in 1819 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
116057	17.8876	1795
116056	15.5153	1810
116058	0.1415	13

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	97.52	gold quality
skin of abdomen	UBERON:0001416	96.55	gold quality
skin of leg	UBERON:0001511	96.50	gold quality
lower esophagus mucosa	UBERON:0035834	96.42	gold quality
epithelial cell of pancreas	CL:0000083	96.04	silver quality
adenohypophysis	UBERON:0002196	95.76	gold quality
monocyte	CL:0000576	95.67	gold quality
pancreatic ductal cell	CL:0002079	95.61	gold quality
mucosa of stomach	UBERON:0001199	95.61	gold quality
leukocyte	CL:0000738	95.46	gold quality
sural nerve	UBERON:0015488	95.46	gold quality
left ovary	UBERON:0002119	95.27	gold quality
pituitary gland	UBERON:0000007	95.22	gold quality
body of uterus	UBERON:0009853	95.19	gold quality
left uterine tube	UBERON:0001303	95.12	gold quality
right lung	UBERON:0002167	95.11	gold quality
endocervix	UBERON:0000458	94.95	gold quality
upper arm skin	UBERON:0004263	94.94	gold quality
zone of skin	UBERON:0000014	94.88	gold quality
popliteal artery	UBERON:0002250	94.84	gold quality
tibial artery	UBERON:0007610	94.84	gold quality
bone marrow cell	CL:0002092	94.75	gold quality
right ovary	UBERON:0002118	94.71	gold quality
nerve	UBERON:0001021	94.59	gold quality
tibial nerve	UBERON:0001323	94.59	gold quality
right coronary artery	UBERON:0001625	94.54	gold quality
left lobe of thyroid gland	UBERON:0001120	94.49	gold quality
right uterine tube	UBERON:0001302	94.49	gold quality
vermiform appendix	UBERON:0001154	94.46	gold quality
small intestine Peyer’s patch	UBERON:0003454	94.43	gold quality

Single-cell (SCXA)

Detected in 5 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	18.13
E-MTAB-10137	no	428.81
E-MTAB-7606	no	323.63
E-MTAB-7052	no	214.76
E-MTAB-5061	no	3.58

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

91 targeting PCF11, 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-190A-3P	100.00	80.35	5520
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-MIR-1277-5P	100.00	73.95	5056
HSA-MIR-4692	100.00	67.32	2066
HSA-MIR-1193	100.00	65.93	529
HSA-MIR-548C-3P	99.99	74.01	7587
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-4514	99.99	67.10	1870
HSA-MIR-4282	99.99	75.36	6408
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-4482-3P	99.98	72.50	3147
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-507	99.97	70.11	1915
HSA-MIR-1468-3P	99.96	72.74	3797
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-557	99.96	70.01	1640
HSA-MIR-3143	99.93	71.96	3104
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-627-3P	99.90	71.42	3316
HSA-MIR-374A-5P	99.90	71.34	2923
HSA-MIR-374B-5P	99.90	69.98	2734
HSA-MIR-4493	99.90	66.48	977
HSA-MIR-153-5P	99.89	73.86	6317

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 96.9% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 8)

• Human PCf11 is a pre-mRNA processing factor. (PMID:11060040)
• Pcf11 can act as a negative elongation factor to repress RNA Pol II gene expression in eukaryotic cells. (PMID:17606639)
• Pcf11 is required for the efficient degradation of the 3’ product of poly(A) site cleavage. (PMID:18086705)
• WNK1 and the associated phosphorylation of the PCF11 CID act to promote transcript release from chromatin-associated Pol II, which in turn facilitates mRNA export to the cytoplasm (PMID:29196535)
• We have reconstituted CF II as a heterodimer of hPcf11 and hClp1. The heterodimer is active in partially reconstituted cleavage reactions, whereas hClp1 by itself is not. Pcf11 moderately stimulates the RNA 5’ kinase activity of hClp1; the kinase activity is dispensable for RNA cleavage (PMID:30139799)
• Utilising extensive RNAi-screening authors reveal the landscape and drivers of transcriptome 3’end-diversification, discovering PCF11 as critical regulator, directing alternative polyadenylation (APA) of hundreds of transcripts including a differentiation RNA-operon. (PMID:30552333)
• PCF11 selectively attenuates the expression of other transcriptional regulators by premature cleavage/polyadenylation and termination. (PMID:30819644)
• PCF11 is autoregulated through a conserved IPA site, the removal of which leads to global activation of PASs close to gene promotors. Therefore, PCF11 uses distinct mechanisms to regulate genes of different sizes, and its autoregulation maintains homeostasis of PAS usage in the cell. (PMID:30840896)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	pcf11	ENSDARG00000044625
mus_musculus	Pcf11	ENSMUSG00000041328
rattus_norvegicus	Pcf11	ENSRNOG00000009891
drosophila_melanogaster	Pcf11	FBGN0264962
caenorhabditis_elegans		WBGENE00020092

Protein

Protein identifiers

Pre-mRNA cleavage complex 2 protein Pcf11 — O94913 (reviewed: O94913)

Alternative names: Pre-mRNA cleavage complex II protein Pcf11

All UniProt accessions (6): A0A8I5KX04, E9PKN0, E9PNY7, E9PQ01, E9PQF9, O94913

UniProt curated annotations — full annotation on UniProt →

Function. Component of pre-mRNA cleavage complex II, which promotes transcription termination by RNA polymerase II.

Subunit / interactions. Associates with the phosphorylated CTD domain of POLR2A /RNA polymerase II.

Subcellular location. Nucleus.

Post-translational modifications. Phosphorylation at Ser-120 and/or Thr-121 by WNK1 weakens its association with POLR2A/RNA polymerase II, promoting transcript release from the chromatin template and mRNA export to the cytoplasm.

RefSeq proteins (4): NP_001333342, NP_001333343, NP_001333344, NP_056969 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006569	CID_dom	Domain
IPR008942	ENTH_VHS	Homologous_superfamily
IPR021605	Pcf11_Clp1-ID	Domain
IPR045154	PCF11-like	Family
IPR047415	Pcf11_CID	Domain
IPR048829	PCF11_RFEG_rpt	Repeat
IPR048830	PCF11_helical	Domain
IPR048832	PCF11_charged	Domain
IPR054127	Pcf11_C	Domain

Pfam: PF04818, PF11526, PF20827, PF20844, PF20845, PF21936

UniProt features (77 total): modified residue 30, compositionally biased region 16, cross-link 10, region of interest 9, sequence variant 3, sequence conflict 2, initiator methionine 1, chain 1, coiled-coil region 1, domain 1, mutagenesis site 1, helix 1, turn 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
6WJH	X-RAY DIFFRACTION	2.19

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O94913-F1	48.19	0.10

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 (40): 2, 120, 121, 169, 182, 459, 489, 494, 509, 511, 645, 705, 728, 777, 785, 794, 805, 820, 833, 851 …

Mutagenesis-validated functional residues (1):

Position	Phenotype
120–121	abolished phosphorylation by wnk1, leading to mrna retention in the nucleus and in prolonged association with polyadenyl

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-6807505	RNA polymerase II transcribes snRNA genes
R-HSA-72187	mRNA 3’-end processing
R-HSA-73856	RNA Polymerase II Transcription Termination
R-HSA-77595	Processing of Intronless Pre-mRNAs
R-HSA-9770562	mRNA Polyadenylation
R-HSA-9918481	Dengue Virus-Host Interactions
R-HSA-72203	Processing of Capped Intron-Containing Pre-mRNA

MSigDB gene sets: 245 (showing top): FREAC2_01, MYOGENIN_Q6, PAX4_01, MORF_MSH3, GOBP_DNA_TEMPLATED_TRANSCRIPTION_TERMINATION, GCANCTGNY_MYOD_Q6, MORF_BRCA1, MORF_ATRX, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, MORF_ESR1, NAGASHIMA_NRG1_SIGNALING_UP, GGGTGGRR_PAX4_03, AAAYRNCTG_UNKNOWN, CAGCTG_AP4_Q5, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP

GO Biological Process (4): termination of RNA polymerase II transcription (GO:0006369), co-transcriptional mRNA 3’-end processing, cleavage and polyadenylation pathway (GO:0180010), mRNA processing (GO:0006397), mRNA 3’-end processing (GO:0031124)

GO Molecular Function (3): RNA polymerase II complex binding (GO:0000993), mRNA binding (GO:0003729), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), mitochondrion (GO:0005739), mRNA cleavage factor complex (GO:0005849)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
RNA Polymerase II Transcription	2
Processing of Capped Intron-Containing Pre-mRNA	1
Processing of Capped Intronless Pre-mRNA	1
mRNA 3’-end processing	1
Dengue Virus Infection	1
Metabolism of RNA	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	2
cellular anatomical structure	2
DNA-templated transcription termination	1
transcription by RNA polymerase II	1
mRNA 3’-end processing	1
co-transcriptional RNA 3’-end processing, cleavage and polyadenylation pathway	1
RNA processing	1
mRNA metabolic process	1
mRNA processing	1
RNA 3’-end processing	1
RNA polymerase core enzyme binding	1
RNA binding	1
binding	1
nuclear lumen	1
intracellular anatomical structure	1
cytoplasm	1
nuclear protein-containing complex	1

Protein interactions and networks

STRING

2220 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PCF11	CPSF3	Q9UKF6	939
PCF11	CLP1	Q92989	926
PCF11	PYCR1	P32322	918
PCF11	CSTF2	P33240	910
PCF11	CSTF3	Q12996	897
PCF11	CSTF1	Q05048	873
PCF11	SSU72	Q9NP77	873
PCF11	CPSF6	Q16630	869
PCF11	CPSF2	Q9P2I0	866
PCF11	JAG2	Q9Y219	864
PCF11	WDR33	Q9C0J8	854
PCF11	PAPOLA	P51003	843
PCF11	SCAF8	Q9UPN6	835
PCF11	CPSF4	O95639	834
PCF11	PAPOLG	Q9BWT3	833

IntAct

80 interactions, top by confidence:

A	B	Type	Score
RPRD1B	POLR2D	psi-mi:“MI:0914”(association)	0.730
CFTR	ESYT2	psi-mi:“MI:0914”(association)	0.710
PCF11	CLP1	psi-mi:“MI:0407”(direct interaction)	0.590
CLP1	PCF11	psi-mi:“MI:0914”(association)	0.590
CDKN2AIP	PCF11	psi-mi:“MI:0914”(association)	0.530
PCF11	HMGN2	psi-mi:“MI:0915”(physical association)	0.400
Clp1	TSEN34	psi-mi:“MI:0915”(physical association)	0.400
BNLF1	PCF11	psi-mi:“MI:0915”(physical association)	0.370
Rprd1b	POLR2B	psi-mi:“MI:0914”(association)	0.350
CEP170P1	PCYT1A	psi-mi:“MI:0914”(association)	0.350
MAPK3		psi-mi:“MI:0914”(association)	0.350
CDKN2AIP	IFT88	psi-mi:“MI:0914”(association)	0.350
Cdkn2aip	SF1	psi-mi:“MI:0914”(association)	0.350
Junb	RGPD3	psi-mi:“MI:0914”(association)	0.350
EMC2	TBL2	psi-mi:“MI:0914”(association)	0.350
CDK8	CCNC	psi-mi:“MI:0914”(association)	0.350
AK1	NBAS	psi-mi:“MI:0914”(association)	0.350
USF1	MAP3K4	psi-mi:“MI:0914”(association)	0.350
MRPL50	MRPL43	psi-mi:“MI:0914”(association)	0.350
SAMD1		psi-mi:“MI:0914”(association)	0.350
ESR1	ESYT2	psi-mi:“MI:0914”(association)	0.350
	AP3D1	psi-mi:“MI:0914”(association)	0.350
BMI1	MEIS3P1	psi-mi:“MI:0914”(association)	0.350
POC5	PDHX	psi-mi:“MI:0914”(association)	0.350

BioGRID (139): PCF11 (Affinity Capture-RNA), PCF11 (Affinity Capture-RNA), ATF7 (Co-fractionation), BCAS2 (Co-fractionation), CLP1 (Co-fractionation), CPSF2 (Co-fractionation), EEFSEC (Co-fractionation), PCF11 (Co-fractionation), PCF11 (Co-fractionation), PCF11 (Co-fractionation), PCF11 (Co-fractionation), PCF11 (Co-fractionation), PCF11 (Co-fractionation), PCF11 (Co-fractionation), PCF11 (Co-fractionation)

ESM2 similar proteins: A0A8M2, A0JMU8, A1L1K8, A5D7H5, B9DFV2, E1BUG7, F4JP52, G1SW77, G3X9Z4, O08719, O15234, O94913, Q0V898, Q1LVV0, Q2T9I5, Q32NW2, Q3MHF8, Q498K9, Q566L7, Q5CZI8, Q5JVS0, Q5R4R4, Q5T8P6, Q5TYQ8, Q659C4, Q68FI1, Q6AXS5, Q6NVR8, Q6NZN0, Q6PKG0, Q8AVJ2, Q8CGC4, Q8K2F8, Q8K3W3, Q8K3X0, Q8NC51, Q8ND56, Q91W18, Q91W39, Q96D71

Diamond homologs: G3X9Z4, O94913, P39081, Q09345, Q0WPF2, Q10237, Q9C710, Q9FIX8

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
PCF11	“form complex”	“CFII complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 106 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
mRNA 3’-end processing	8	21.6×	2e-07
mRNA Polyadenylation	15	18.1×	1e-12
mRNA Splicing	12	18.1×	2e-10
Processing of Capped Intron-Containing Pre-mRNA	14	15.8×	3e-11
mRNA Splicing - Minor Pathway	5	15.3×	8e-04
RNA Polymerase II Transcription Termination	5	15.0×	8e-04
RNA polymerase II transcribes snRNA genes	7	14.8×	2e-05
mRNA Splicing - Major Pathway	17	12.7×	3e-12

GO biological processes:

GO term	Partners	Fold	FDR
mRNA transport	5	14.2×	3e-03
regulation of alternative mRNA splicing, via spliceosome	5	13.1×	4e-03
mRNA splicing, via spliceosome	13	12.8×	2e-08
negative regulation of translation	5	10.5×	9e-03
mRNA processing	10	8.5×	1e-04
RNA splicing	7	6.6×	8e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	131
Likely benign	4
Benign	4

Top pathogenic / likely-pathogenic (0)

SpliceAI

2246 predictions. Top by Δscore:

Variant	Effect	Δscore
11:83159084:G:GT	donor_gain	1.0000
11:83164203:A:AG	acceptor_gain	1.0000
11:83164203:ATAGC:A	acceptor_loss	1.0000
11:83164204:T:G	acceptor_gain	1.0000
11:83164204:TAG:T	acceptor_loss	1.0000
11:83164205:A:AG	acceptor_gain	1.0000
11:83164205:A:T	acceptor_loss	1.0000
11:83164205:AGCCC:A	acceptor_gain	1.0000
11:83164206:G:GA	acceptor_gain	1.0000
11:83164206:GC:G	acceptor_gain	1.0000
11:83164206:GCC:G	acceptor_gain	1.0000
11:83164206:GCCC:G	acceptor_gain	1.0000
11:83164206:GCCCG:G	acceptor_gain	1.0000
11:83164388:C:G	donor_gain	1.0000
11:83164397:AGTTG:A	donor_gain	1.0000
11:83164398:GTTG:G	donor_gain	1.0000
11:83164398:GTTGG:G	donor_gain	1.0000
11:83164399:TTG:T	donor_gain	1.0000
11:83164399:TTGGT:T	donor_gain	1.0000
11:83164401:GGTA:G	donor_loss	1.0000
11:83164402:GTA:G	donor_loss	1.0000
11:83164402:GTAA:G	donor_gain	1.0000
11:83164406:G:GG	donor_gain	1.0000
11:83165599:GGCA:G	acceptor_gain	1.0000
11:83168427:GGT:G	acceptor_gain	1.0000
11:83171812:TTAAA:T	acceptor_loss	1.0000
11:83171813:TAAA:T	acceptor_loss	1.0000
11:83171816:AGGTT:A	acceptor_loss	1.0000
11:83171817:G:T	acceptor_loss	1.0000
11:83171912:CAGG:C	donor_loss	1.0000

AlphaMissense

11035 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
11:83157503:T:C	Y22H	1.000
11:83157503:T:G	Y22D	1.000
11:83157516:T:A	L26H	1.000
11:83157516:T:C	L26P	1.000
11:83157525:T:A	L29Q	1.000
11:83157525:T:C	L29P	1.000
11:83157530:T:C	F31L	1.000
11:83157532:C:A	F31L	1.000
11:83157532:C:G	F31L	1.000
11:83157535:T:A	N32K	1.000
11:83157535:T:G	N32K	1.000
11:83157536:A:C	S33R	1.000
11:83157538:C:A	S33R	1.000
11:83157538:C:G	S33R	1.000
11:83157541:G:C	K34N	1.000
11:83157541:G:T	K34N	1.000
11:83157542:C:T	P35S	1.000
11:83157543:C:A	P35Q	1.000
11:83157549:T:A	I37N	1.000
11:83157549:T:C	I37T	1.000
11:83157549:T:G	I37S	1.000
11:83157553:T:A	N38K	1.000
11:83157553:T:G	N38K	1.000
11:83157555:T:A	M39K	1.000
11:83157558:T:A	L40Q	1.000
11:83157558:T:C	L40P	1.000
11:83157558:T:G	L40R	1.000
11:83157561:C:T	T41I	1.000
11:83157564:T:A	I42N	1.000
11:83157564:T:C	I42T	1.000

dbSNP variants (sampled 300 via entrez): RS1000001182 (11:83167726 G>A,T), RS1000033007 (11:83185189 A>C), RS1000124480 (11:83164603 C>T), RS1000328338 (11:83171592 C>T), RS1000336581 (11:83171864 A>C,G), RS1000416764 (11:83184994 T>C), RS1000471531 (11:83178694 T>A), RS1000671341 (11:83165546 T>C,G), RS1000719397 (11:83173082 T>C), RS1000722237 (11:83172129 C>T), RS1000937260 (11:83173462 A>C,T), RS1000959619 (11:83159475 C>G), RS1001066171 (11:83173223 G>A), RS1001094971 (11:83179727 C>T), RS1001624524 (11:83178194 A>G)

Disease associations

OMIM: gene MIM:608876 | disease phenotypes:

GenCC curated gene-disease

Mondo (2): acute megakaryoblastic leukemia (MONDO:0018872), mediastinal germ cell tumor (MONDO:0021067)

Orphanet (1): Acute megakaryoblastic leukemia (Orphanet:518)

HPO phenotypes

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

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001762_316	Obesity-related traits	7.000000e-06
GCST001814_18	Age-related macular degeneration	8.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0003940	physical activity

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D007947	Leukemia, Megakaryoblastic, Acute	C04.557.337.539.275.450; C15.378.508.539.275.450

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Tobacco Smoke Pollution	affects expression, increases expression	3
Valproic Acid	decreases expression, decreases methylation	3
Cisplatin	decreases expression, affects cotreatment	2
Cadmium Chloride	increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
beta-lapachone	decreases expression	1
potassium chromate(VI)	increases expression, affects cotreatment	1
coumarin	decreases phosphorylation	1
cupric oxide	increases expression	1
methacrylaldehyde	affects cotreatment, decreases expression, increases abundance	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	affects cotreatment, decreases expression	1
3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	increases expression	1
Leflunomide	decreases expression	1
Acrolein	increases abundance, affects cotreatment, decreases expression	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance	1
Arsenic	affects methylation	1
Atrazine	decreases expression	1
Benzo(a)pyrene	decreases expression	1
Cadmium	increases expression	1
Caffeine	decreases phosphorylation	1
Formaldehyde	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04083170	PHASE2	TERMINATED	Cord Blood Transplant With Dilanubicel for the Treatment of HIV Positive Hematologic Cancers
NCT00392353	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Vorinostat and Azacitidine in Treating Patients With Myelodysplastic Syndromes or Acute Myeloid Leukemia
NCT01823198	PHASE1/PHASE2	COMPLETED	Donor Natural Killer Cells and Donor Stem Cell Transplant in Treating Patients With High Risk Myeloid Malignancies
NCT02530619	Not specified	UNKNOWN	Alisertib in Treating Patients With Myelofibrosis or Relapsed or Refractory Acute Megakaryoblastic Leukemia