EPC1

Summary

EPC1 (enhancer of polycomb 1, HGNC:19876) is a protein-coding gene on chromosome 10p11.22, encoding Enhancer of polycomb homolog 1 (Q9H2F5). Component of the NuA4 histone acetyltransferase (HAT) complex, a multiprotein complex involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. It is a selective cancer dependency (DepMap: 22.1% of cell lines).

This gene encodes a member of the polycomb group (PcG) family. The encoded protein is a component of the NuA4 histone acetyltransferase complex and can act as both a transcriptional activator and repressor. The encoded protein has been linked to apoptosis, DNA repair, skeletal muscle differentiation, gene silencing, and adult T-cell leukemia/lymphoma. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 80314 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 90 total
• Cancer dependency (DepMap): dependent in 22.1% of screened cell lines
• MANE Select transcript: NM_001272004

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19876
Approved symbol	EPC1
Name	enhancer of polycomb 1
Location	10p11.22
Locus type	gene with protein product
Status	Approved
Aliases	Epl1
Ensembl gene	ENSG00000120616
Ensembl biotype	protein_coding
OMIM	610999
Entrez	80314

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 5 protein_coding, 3 retained_intron, 1 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000263062, ENST00000319778, ENST00000375110, ENST00000462470, ENST00000469059, ENST00000479380, ENST00000480402, ENST00000492710, ENST00000495790, ENST00000667706

RefSeq mRNA: 8 — MANE Select: NM_001272004 NM_001272004, NM_001272019, NM_001282391, NM_001382753, NM_001382754, NM_001382755, NM_001382756, NM_025209

CCDS: CCDS60511, CCDS7172, CCDS73083

Canonical transcript exons

ENST00000319778 — 14 exons

Exon	Start	End
ENSE00000697878	32286926	32287015
ENSE00000985749	32291163	32291322
ENSE00001465781	32267751	32269135
ENSE00002510486	32292496	32292644
ENSE00003468879	32346763	32347158
ENSE00003473273	32305772	32305931
ENSE00003522312	32272026	32272167
ENSE00003523228	32286694	32286842
ENSE00003537345	32271554	32271917
ENSE00003570205	32292988	32293194
ENSE00003574660	32273163	32273281
ENSE00003590742	32287098	32287274
ENSE00003624407	32284698	32285050
ENSE00003671562	32293592	32293737

Expression profiles

Bgee: expression breadth ubiquitous, 264 present calls, max score 99.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 33.8611 / max 482.7410, expressed in 1815 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
109001	13.8617	1774
109006	12.8298	1551
109002	3.2027	1387
109000	1.7270	717
109005	0.8565	353
108999	0.6126	290
108998	0.4712	222
109004	0.1655	78
109003	0.1341	33

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
colonic epithelium	UBERON:0000397	99.88	gold quality
bone marrow cell	CL:0002092	99.50	gold quality
secondary oocyte	CL:0000655	99.34	gold quality
epithelial cell of pancreas	CL:0000083	98.21	gold quality
ileal mucosa	UBERON:0000331	98.04	gold quality
bone marrow	UBERON:0002371	97.77	gold quality
endothelial cell	CL:0000115	97.50	gold quality
trabecular bone tissue	UBERON:0002483	97.39	gold quality
oviduct epithelium	UBERON:0004804	97.34	gold quality
tibialis anterior	UBERON:0001385	97.18	gold quality
mammary duct	UBERON:0001765	96.54	gold quality
epithelium of mammary gland	UBERON:0003244	96.54	gold quality
pancreatic ductal cell	CL:0002079	96.11	gold quality
upper arm skin	UBERON:0004263	96.10	gold quality
caput epididymis	UBERON:0004358	96.08	gold quality
cauda epididymis	UBERON:0004360	96.05	gold quality
kidney epithelium	UBERON:0004819	96.01	gold quality
thymus	UBERON:0002370	95.93	silver quality
pylorus	UBERON:0001166	95.78	gold quality
nipple	UBERON:0002030	95.71	gold quality
urethra	UBERON:0000057	95.60	gold quality
deltoid	UBERON:0001476	95.58	gold quality
buccal mucosa cell	CL:0002336	95.54	gold quality
lower lobe of lung	UBERON:0008949	95.45	gold quality
cardiac muscle of right atrium	UBERON:0003379	95.41	gold quality
tendon of biceps brachii	UBERON:0008188	95.26	silver quality
ventricular zone	UBERON:0003053	95.10	gold quality
cardia of stomach	UBERON:0001162	95.06	gold quality
corpus epididymis	UBERON:0004359	95.06	gold quality
synovial joint	UBERON:0002217	94.99	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-CURD-122	yes	4.68
E-MTAB-6379	no	364.68
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

256 targeting EPC1, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-4533	100.00	69.48	2758
HSA-MIR-6758-5P	100.00	66.21	1470
HSA-MIR-6856-5P	100.00	65.47	1298
HSA-MIR-513A-5P	100.00	69.77	2465
HSA-MIR-5011-5P	100.00	83.46	5820
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
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-4476	100.00	68.18	2030
HSA-MIR-6876-5P	100.00	67.68	2126
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-4531	99.99	69.70	3181
HSA-MIR-4803	99.98	71.99	3117
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-548N	99.98	71.94	4170
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-12136	99.98	72.81	5713

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 22.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 7)

• Epc1 plays a role in the initiation of skeletal muscle differentiation, and its interaction with Hop is required for the full activity. (PMID:17192267)
• SNP array CGH analysis of the breakpoint region in 3 ATLL-related cell lines and 4 patient samples revealed the chromosomal breakpoints are localized within the EPC1 gene locus in an ATLL-derived cell line (SO4) and in one patient with acute-type ATLL. (PMID:19484761)
• EPC1 and EPC2 are components of a complex that directly or indirectly serves to prevent MYC accumulation and AML cell apoptosis, thus sustaining oncogenic potential (PMID:24166297)
• Silencing EPC1 by short hairpin RNA technology had the inhibition effects on cell proliferation and tumor growth in lung cancer (PMID:25755723)
• Epigenetic factor EPC1 is a master regulator of DNA damage response by interacting with E2F1 to silence death and activate metastasis-related gene signatures (PMID:26350215)
• Structural Basis for EPC1-Mediated Recruitment of MBTD1 into the NuA4/TIP60 Acetyltransferase Complex. (PMID:32209463)
• Multiomics Integrative Analysis Identifying EPC1 as a Prognostic Biomarker in Head and Neck Squamous Cell Carcinoma. (PMID:36158885)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Epc1	ENSMUSG00000024240
rattus_norvegicus	Epc1	ENSRNOG00000014834
drosophila_melanogaster	E(Pc)	FBGN0000581
caenorhabditis_elegans		WBGENE00007030

Paralogs (1): EPC2 (ENSG00000135999)

Protein

Protein identifiers

Enhancer of polycomb homolog 1 — Q9H2F5 (reviewed: Q9H2F5)

All UniProt accessions (4): A0A590UJ87, A0A590UJ89, A0A590UJN0, Q9H2F5

UniProt curated annotations — full annotation on UniProt →

Function. Component of the NuA4 histone acetyltransferase (HAT) complex, a multiprotein complex involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. The NuA4 complex plays a direct role in repair of DNA double-strand breaks (DSBs) by promoting homologous recombination (HR). The NuA4 complex is also required for spermatid development by promoting acetylation of histones: histone acetylation is required for histone replacement during the transition from round to elongating spermatids. In the NuA4 complex, EPC1 is required to recruit MBTD1 into the complex.

Subunit / interactions. Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. KAT5/TIP60, EPC1, and ING3 together constitute a minimal HAT complex termed Piccolo NuA4. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. Interacts with TRIM27. Interacts with MBTD1; interaction is direct and promotes recruitment of MBTD1 into the NuA4 histone acetyltransferase complex.

Subcellular location. Nucleus. Cytoplasm.

Similarity. Belongs to the enhancer of polycomb family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q9H2F5-1	1	yes
Q9H2F5-2	2
Q9H2F5-3	3

RefSeq proteins (8): NP_001258933, NP_001258948, NP_001269320, NP_001369682, NP_001369683, NP_001369684, NP_001369685, NP_079485 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009607	Enhancer_polycomb_C	Domain
IPR019542	Enhancer_polycomb-like_N	Domain
IPR024943	Enhancer_polycomb	Family

Pfam: PF06752, PF10513

UniProt features (32 total): strand 7, helix 6, sequence conflict 4, region of interest 3, splice variant 2, mutagenesis site 2, compositionally biased region 2, cross-link 2, chain 1, sequence variant 1, turn 1, modified residue 1

Structure

Experimental structures (PDB)

9 structures.

PDB	Method	Resolution (Å)
6NFX	X-RAY DIFFRACTION	1.95
8QR1	ELECTRON MICROSCOPY	2.4
9C57	ELECTRON MICROSCOPY	2.75
9CAE	ELECTRON MICROSCOPY	3.07
8XVT	ELECTRON MICROSCOPY	3.2
9C6N	ELECTRON MICROSCOPY	3.29
9CAC	ELECTRON MICROSCOPY	3.43
9C62	ELECTRON MICROSCOPY	5.28
8XVG	ELECTRON MICROSCOPY	9.4

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9H2F5-F1	57.95	0.12

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 (3): 539, 319, 673

Mutagenesis-validated functional residues (2):

Position	Phenotype
651	abolished interaction with mbtd1; when associated with d-660–663-d.
659–663	abolished interaction with mbtd1; when associated with d-651.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-3214847	HATs acetylate histones
R-HSA-8953750	Transcriptional Regulation by E2F6

MSigDB gene sets: 294 (showing top): GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR, E2F_Q4, GOBP_REGULATION_OF_DNA_RECOMBINATION, CMYB_01, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GOBP_REGULATION_OF_DOUBLE_STRAND_BREAK_REPAIR_VIA_HOMOLOGOUS_RECOMBINATION, AP2_Q3, GOBP_MALE_GAMETE_GENERATION, CTATGCA_MIR153, GGGTGGRR_PAX4_03, AAAYRNCTG_UNKNOWN, GOBP_REGULATION_OF_DNA_REPAIR, YY1_Q6, GGCNKCCATNK_UNKNOWN, GOBP_NEGATIVE_REGULATION_OF_GENE_EXPRESSION_EPIGENETIC

GO Biological Process (18): negative regulation of transcription by RNA polymerase II (GO:0000122), double-strand break repair via homologous recombination (GO:0000724), DNA-templated transcription (GO:0006351), regulation of transcription by RNA polymerase II (GO:0006357), spermatid development (GO:0007286), sperm DNA condensation (GO:0035092), regulation of apoptotic process (GO:0042981), negative regulation of gene expression, epigenetic (GO:0045814), 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), regulation of cell cycle (GO:0051726), positive regulation of double-strand break repair via homologous recombination (GO:1905168), regulation of double-strand break repair (GO:2000779), double-strand break repair via nonhomologous end joining (GO:0006303), chromatin organization (GO:0006325), spermatogenesis (GO:0007283), cell differentiation (GO:0030154)

GO Molecular Function (3): chromatin-protein adaptor activity (GO:0140463), enzyme-substrate adaptor activity (GO:0140767), protein binding (GO:0005515)

GO Cellular Component (11): nucleosome (GO:0000786), nucleus (GO:0005634), nucleoplasm (GO:0005654), nucleolus (GO:0005730), cytoplasm (GO:0005737), nuclear body (GO:0016604), nuclear membrane (GO:0031965), piccolo histone acetyltransferase complex (GO:0032777), NuA4 histone acetyltransferase complex (GO:0035267), site of double-strand break (GO:0035861), histone acetyltransferase complex (GO:0000123)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Chromatin modifying enzymes	1
Generic Transcription Pathway	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	3
double-strand break repair	3
regulation of DNA-templated transcription	3
regulation of transcription by RNA polymerase II	2
chromatin organization	2
DNA-templated transcription	2
protein-macromolecule adaptor activity	2
chromatin	2
nuclear lumen	2
cellular anatomical structure	2
intracellular membraneless organelle	2
negative regulation of DNA-templated transcription	1
recombinational repair	1
gene expression	1
RNA biosynthetic process	1
germ cell development	1
spermatid differentiation	1
spermatid nucleus differentiation	1
apoptotic process	1
regulation of programmed cell death	1
negative regulation of gene expression	1
epigenetic regulation of gene expression	1
negative regulation of RNA biosynthetic process	1
positive regulation of RNA biosynthetic process	1
positive regulation of DNA-templated transcription	1
cell cycle	1
regulation of cellular process	1
double-strand break repair via homologous recombination	1
regulation of double-strand break repair via homologous recombination	1
positive regulation of DNA recombination	1
positive regulation of double-strand break repair	1
regulation of DNA repair	1
cellular component organization	1
developmental process involved in reproduction	1
male gamete generation	1
cellular developmental process	1
chromatin binding	1
binding	1
protein-DNA complex	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

818 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EPC1	MEAF6	Q9HAF1	960
EPC1	DMAP1	Q9NPF5	881
EPC1	KAT5	Q92993	723
EPC1	YEATS4	O95619	715
EPC1	MRGBP	Q9NV56	714
EPC1	TRRAP	Q9Y4A5	702
EPC1	ING3	Q9NXR8	673
EPC1	MORF4L1	Q9UBU8	600
EPC1	USF2	Q15853	549
EPC1	HAMP	P81172	524
EPC1	EZH2	Q15910	511
EPC1	EP400	Q96L91	473
EPC1	KAT2A	Q92830	463
EPC1	H4C7	Q99525	462
EPC1	H4C16	P02304	446

IntAct

112 interactions, top by confidence:

A	B	Type	Score
RUVBL1	ZNHIT1	psi-mi:“MI:0914”(association)	0.860
MRGBP	YEATS4	psi-mi:“MI:0914”(association)	0.840
RUVBL2	ZNHIT1	psi-mi:“MI:0914”(association)	0.810
YEATS4	ZNHIT1	psi-mi:“MI:0914”(association)	0.790
MED23	MED19	psi-mi:“MI:2364”(proximity)	0.770
H2AZ1	ZNHIT1	psi-mi:“MI:0914”(association)	0.770
MBTD1	YEATS4	psi-mi:“MI:0914”(association)	0.730
MORF4L1	SIN3B	psi-mi:“MI:0914”(association)	0.730
ACTL6A	ZNHIT1	psi-mi:“MI:0914”(association)	0.720
EPC1	RINT1	psi-mi:“MI:0915”(physical association)	0.700
RINT1	EPC1	psi-mi:“MI:0915”(physical association)	0.700
VPS72	ZNHIT1	psi-mi:“MI:0914”(association)	0.690
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
RUVBL1	POLR3A	psi-mi:“MI:0914”(association)	0.640
RUVBL2	POLR3A	psi-mi:“MI:0914”(association)	0.640
H2BC1	PPM1G	psi-mi:“MI:0914”(association)	0.640
FOXR1	YEATS4	psi-mi:“MI:0914”(association)	0.640
MORF4L2	YEATS4	psi-mi:“MI:0914”(association)	0.640

BioGRID (173): EPC1 (Two-hybrid), EPC1 (Two-hybrid), EPC1 (Affinity Capture-MS), EPC1 (Affinity Capture-MS), EPC1 (Affinity Capture-MS), EPC1 (Affinity Capture-MS), EPC1 (Affinity Capture-MS), EPC1 (Affinity Capture-MS), EPC1 (Affinity Capture-MS), EPC1 (Proximity Label-MS), EPC1 (Affinity Capture-MS), EPC1 (Affinity Capture-MS), EPC1 (Affinity Capture-MS), EPC1 (Affinity Capture-MS), EPC1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0K3AV08, A5HWA8, A5JYW9, K8ERR8, O13987, O17862, O44757, O60291, O74986, O77051, O94532, O96838, P32351, P34379, P87152, Q02645, Q08639, Q09446, Q09663, Q14186, Q14693, Q15329, Q17QZ4, Q20619, Q22811, Q22992, Q24318, Q5H9I0, Q60JJ0, Q61502, Q621Z7, Q62814, Q64163, Q6DE14, Q8C9X6, Q95Q98, Q9FNY0, Q9FNY2, Q9FNY3, Q9FV70

Diamond homologs: P0CN58, P0CN59, Q4WDF1, Q52LR7, Q5AYR3, Q66JA8, Q6DJR9, Q8C0I4, Q8C9X6, Q9H2F5, Q9UU94, P43572, Q4I5V3, Q5AAG1, Q6CEV5, Q6CIN8, Q6FLZ0, Q752Q3, Q7S747, Q6BNX0

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
EPC1	“form complex”	“NuA4 complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 105 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
HATs acetylate histones	16	16.9×	3e-13
Chromatin organization	14	15.2×	6e-11
Chromatin modifying enzymes	14	13.5×	2e-10
Influenza Infection	5	11.7×	4e-03
Transcriptional regulation by RUNX1	5	9.8×	8e-03
Formation of the beta-catenin:TCF transactivating complex	6	9.6×	3e-03

GO biological processes:

GO term	Partners	Fold	FDR
regulation of double-strand break repair	13	76.3×	1e-19
positive regulation of double-strand break repair via homologous recombination	13	50.3×	5e-17
regulation of DNA replication	7	25.9×	5e-07
positive regulation of transcription initiation by RNA polymerase II	6	16.5×	7e-05
regulation of DNA repair	5	13.9×	1e-03
regulation of apoptotic process	14	11.8×	1e-09
regulation of cell cycle	15	11.3×	5e-10
chromatin remodeling	14	10.3×	6e-09

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	72
Likely benign	3
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2282 predictions. Top by Δscore:

Variant	Effect	Δscore
10:32269134:CC:C	acceptor_gain	1.0000
10:32269135:CC:C	acceptor_gain	1.0000
10:32269135:CCTG:C	acceptor_loss	1.0000
10:32269136:C:CC	acceptor_gain	1.0000
10:32269136:C:CG	acceptor_loss	1.0000
10:32269137:T:A	acceptor_loss	1.0000
10:32271913:TACTC:T	acceptor_gain	1.0000
10:32271915:CTC:C	acceptor_gain	1.0000
10:32271916:TC:T	acceptor_gain	1.0000
10:32271916:TCCTA:T	acceptor_loss	1.0000
10:32271917:CC:C	acceptor_gain	1.0000
10:32271918:C:CC	acceptor_gain	1.0000
10:32271918:CTAG:C	acceptor_loss	1.0000
10:32272020:TCTTA:T	donor_loss	1.0000
10:32272021:CTTAC:C	donor_loss	1.0000
10:32272022:TTACC:T	donor_loss	1.0000
10:32272023:TA:T	donor_loss	1.0000
10:32272024:A:AC	donor_gain	1.0000
10:32272024:AC:A	donor_gain	1.0000
10:32272025:C:CT	donor_gain	1.0000
10:32272025:CC:C	donor_gain	1.0000
10:32272025:CCT:C	donor_gain	1.0000
10:32272025:CCTG:C	donor_gain	1.0000
10:32272025:CCTGA:C	donor_gain	1.0000
10:32272163:AAACC:A	acceptor_gain	1.0000
10:32272164:AACC:A	acceptor_gain	1.0000
10:32272164:AACCC:A	acceptor_gain	1.0000
10:32272165:ACC:A	acceptor_gain	1.0000
10:32272165:ACCC:A	acceptor_gain	1.0000
10:32272166:CC:C	acceptor_gain	1.0000

AlphaMissense

5327 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:32292537:T:A	K258N	1.000
10:32292537:T:G	K258N	1.000
10:32292538:T:A	K258I	1.000
10:32292547:T:A	E255V	1.000
10:32292549:T:A	R254S	1.000
10:32292549:T:G	R254S	1.000
10:32292550:C:A	R254I	1.000
10:32292568:A:G	L248P	1.000
10:32292581:C:G	A244P	1.000
10:32292589:A:G	L241P	1.000
10:32292595:C:G	R239P	1.000
10:32292598:C:G	R238P	1.000
10:32292601:A:G	L237P	1.000
10:32292607:A:G	L235P	1.000
10:32292610:A:C	M234R	1.000
10:32292610:A:T	M234K	1.000
10:32292633:A:C	N226K	1.000
10:32292633:A:T	N226K	1.000
10:32292636:T:A	K225N	1.000
10:32292636:T:G	K225N	1.000
10:32292638:T:C	K225E	1.000
10:32292640:C:G	R224P	1.000
10:32292641:G:C	R224G	1.000
10:32292641:G:T	R224S	1.000
10:32292642:A:C	N223K	1.000
10:32292642:A:T	N223K	1.000
10:32292644:T:C	N223D	1.000
10:32292988:T:A	K222N	1.000
10:32292988:T:G	K222N	1.000
10:32292989:T:A	K222I	1.000

dbSNP variants (sampled 300 via entrez): RS1000002621 (10:32275353 G>C), RS1000005418 (10:32355626 T>C,G), RS1000049265 (10:32316705 T>A), RS1000120800 (10:32315221 G>A), RS1000141739 (10:32360807 T>C), RS1000149068 (10:32345414 G>A), RS1000174163 (10:32377293 A>G,T), RS1000182111 (10:32345210 A>C), RS1000198361 (10:32298382 A>T), RS1000231176 (10:32333170 G>A), RS1000236716 (10:32303700 A>T), RS1000269683 (10:32349665 G>C), RS1000287281 (10:32291864 G>C), RS1000329514 (10:32380140 T>C), RS1000344838 (10:32328440 A>C,G)

Disease associations

OMIM: gene MIM:610999 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001477_3	Sexual dysfunction (female)	2.000000e-06
GCST004616_80	Platelet distribution width	2.000000e-09
GCST006627_58	Diastolic blood pressure	7.000000e-10
GCST009391_1269	Metabolite levels	9.000000e-06
GCST012228_399	Waist-hip index	5.000000e-08
GCST90002401_209	Platelet distribution width	8.000000e-18

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0004714	sexual dysfunction
EFO:0007984	platelet component distribution width
EFO:0006336	diastolic blood pressure
EFO:0010545	uridine diphosphate measurement
EFO:0007788	BMI-adjusted waist-hip ratio

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	increases expression, affects expression, decreases expression, affects cotreatment	7
sodium arsenite	decreases expression, decreases reaction, increases expression, affects cotreatment, decreases methylation	2
Formaldehyde	increases expression	2
3-((6-(2-methoxyphenyl)pyrimidin-4-yl)amino)phenyl)methane sulfonamide	decreases expression	1
FR900359	increases phosphorylation	1
TAK-243	decreases sumoylation	1
dicrotophos	decreases expression	1
bisphenol A	affects cotreatment, increases expression	1
trichostatin A	decreases expression	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
entinostat	decreases expression	1
abrine	increases expression	1
jinfukang	decreases expression	1
Resveratrol	affects cotreatment, increases expression	1
Fulvestrant	increases methylation	1
Troglitazone	increases expression	1
Leflunomide	increases expression	1
Acetaminophen	increases expression	1
Amiodarone	increases expression	1
Atrazine	decreases expression	1
Caffeine	increases phosphorylation	1
Dexamethasone	increases expression, affects cotreatment	1
Dinitrofluorobenzene	increases expression	1
Ethyl Methanesulfonate	increases expression	1
Hydralazine	affects cotreatment, increases expression	1
Hydrogen Peroxide	affects expression	1
Indomethacin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1

Cellosaurus cell lines

5 cell lines: 5 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B8FC	Abcam HCT 116 EPC1 KO	Cancer cell line	Male
CVCL_B8V8	Abcam MCF-7 EPC1 KO	Cancer cell line	Female
CVCL_B9HK	Abcam A-549 EPC1 KO	Cancer cell line	Male
CVCL_E1W4	HAP1 EPC1 (-) 1	Cancer cell line	Male
CVCL_E1W5	HAP1 EPC1 (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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