EAPP

Summary

EAPP (E2F associated phosphoprotein, HGNC:19312) is a protein-coding gene on chromosome 14q13.1, encoding E2F-associated phosphoprotein (Q56P03). May play an important role in the fine-tuning of both major E2F1 activities, the regulation of the cell-cycle and the induction of apoptosis. It is a selective cancer dependency (DepMap: 64.9% of cell lines).

This gene encodes a phosphoprotein that interacts with several members of the E2F family of proteins. The protein localizes to the nucleus, and is present throughout the cell cycle except during mitosis. It functions to modulate E2F-regulated transcription and stimulate proliferation. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 55837 — RefSeq curated summary.

At a glance

• GWAS associations: 3
• Clinical variants (ClinVar): 61 total
• GTEx eGene: eQTL in 11 tissues, sQTL in 2 (q < 0.05)
• Cancer dependency (DepMap): dependent in 64.9% of screened cell lines
• Constraint (gnomAD): pLI 0.00 (LoF-tolerant), LOEUF 1.44 (unconstrained)
• MANE Select transcript: NM_018453
• Notable: 61 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:19312
Approved symbol	EAPP
Name	E2F associated phosphoprotein
Location	14q13.1
Locus type	gene with protein product
Status	Approved
Aliases	BM036, FLJ20578
Ensembl gene	ENSG00000129518
Ensembl biotype	protein_coding
OMIM	609486
Entrez	55837

Gene structure

Transcript identifiers

Ensembl transcripts: 17 — 8 protein_coding, 8 nonsense_mediated_decay, 1 retained_intron

MANE Select: ENST00000250454

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

ENST00000250454, ENST00000554792, ENST00000555683, ENST00000555705, ENST00000867834, ENST00000912552, ENST00000977848, ENST00000977849, ENST00000977850, ENST00000977851, ENST00000977852, ENST00001012267, ENST00001012268, ENST00001012269, ENST00001104418, ENST00001116624, ENST00001134786

RefSeq mRNA: 2 — MANE Select: NM_018453 NM_001318916, NM_018453

CCDS: CCDS41941

Canonical transcript exons

ENST00000250454 — 6 exons

Exon	Start	End
ENSE00000889626	34529358	34529475
ENSE00000998932	34515938	34516586
ENSE00001288967	34524697	34524807
ENSE00001310426	34539555	34539701
ENSE00003478801	34536094	34536275
ENSE00003625453	34533444	34533539

Expression profiles

Bgee: expression breadth ubiquitous, 297 present calls, max score 97.79.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 42.2884 / max 1041.5104, expressed in 1817 samples.

Highest expression (Bgee): calcaneal tendon, palpebral conjunctiva, olfactory segment of nasal mucosa, rectum, eye.

Genetic regulation across tissues (GTEx eQTL / sQTL)

EAPP is an eGene in GTEx v10 — its expression is genetically regulated (eQTL) in 11 tissues and its splicing (sQTL) in 2 (q < 0.05). Strongest associations first; slope = normalized effect of the lead variant’s alternative allele.

13 significant tissue × QTL associations:

Tissue	QTL	q-value	Slope	Lead variant
Artery Tibial	eqtl	1.2e-04	-0.10	14:34578751:C:T
Esophagus Gastroesophageal Junction	sqtl	3.0e-04	+1.86	14:34656437:A:G
Nerve Tibial	eqtl	3.7e-04	-0.36	14:35505597:C:A
Testis	eqtl	5.4e-04	+0.47	14:33966807:C:T
Brain Spinal cord cervical c-1	eqtl	2.6e-03	+0.37	14:34007261:G:A
Adipose Subcutaneous	eqtl	3.2e-03	-0.10	14:34567802:T:C
Esophagus Mucosa	eqtl	8.3e-03	+0.09	14:34850520:A:G
Heart Left Ventricle	eqtl	8.7e-03	-0.65	14:34624881:C:T
Brain Hypothalamus	sqtl	1.3e-02	-1.81	14:33875553:C:T
Esophagus Gastroesophageal Junction	eqtl	2.2e-02	+0.11	14:34646530:T:C
Spleen	eqtl	2.7e-02	-0.79	14:34467573:T:C
Skin Sun Exposed Lower leg	eqtl	2.8e-02	-0.10	14:34760950:G:A
Cells Cultured fibroblasts	eqtl	3.4e-02	-0.09	14:34380270:C:T

FANTOM5 promoters

2 alternative TSS:

Promoter ID	TPM avg	Samples expressed
142789	42.0315	1817
142788	0.2568	117

Top tissues by expression

showing 100 of 300 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
calcaneal tendon	UBERON:0003701	97.79	gold quality
palpebral conjunctiva	UBERON:0001812	95.80	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	95.45	gold quality
rectum	UBERON:0001052	95.43	gold quality
eye	UBERON:0000970	94.51	gold quality
mucosa of transverse colon	UBERON:0004991	94.43	gold quality
skin of leg	UBERON:0001511	94.35	gold quality
left ovary	UBERON:0002119	94.20	gold quality
nasal cavity mucosa	UBERON:0001826	94.06	gold quality
skin of abdomen	UBERON:0001416	94.02	gold quality
leukocyte	CL:0000738	93.98	gold quality
zone of skin	UBERON:0000014	93.98	gold quality
ganglionic eminence	UBERON:0004023	93.95	gold quality
monocyte	CL:0000576	93.90	gold quality
transverse colon	UBERON:0001157	93.90	gold quality
mononuclear cell	CL:0000842	93.89	gold quality
ovary	UBERON:0000992	93.84	gold quality
granulocyte	CL:0000094	93.65	gold quality
right ovary	UBERON:0002118	93.64	gold quality
right adrenal gland cortex	UBERON:0035827	93.50	gold quality
tibial artery	UBERON:0007610	93.48	gold quality
popliteal artery	UBERON:0002250	93.47	gold quality
mucosa of stomach	UBERON:0001199	93.41	gold quality
islet of Langerhans	UBERON:0000006	93.39	gold quality
bronchial epithelial cell	CL:0002328	93.35	gold quality
right adrenal gland	UBERON:0001233	93.30	gold quality
small intestine Peyer’s patch	UBERON:0003454	93.28	gold quality
caput epididymis	UBERON:0004358	93.25	gold quality
artery	UBERON:0001637	93.19	gold quality
descending thoracic aorta	UBERON:0002345	93.18	gold quality
corpus epididymis	UBERON:0004359	93.09	gold quality
large intestine	UBERON:0000059	93.06	gold quality
cortical plate	UBERON:0005343	93.04	gold quality
left adrenal gland	UBERON:0001234	93.02	gold quality
upper leg skin	UBERON:0004262	93.01	gold quality
colon	UBERON:0001155	92.98	gold quality
bone marrow	UBERON:0002371	92.97	gold quality
intestine	UBERON:0000160	92.94	gold quality
aorta	UBERON:0000947	92.76	gold quality
endocervix	UBERON:0000458	92.63	gold quality
epithelium of bronchus	UBERON:0002031	92.59	gold quality
ventricular zone	UBERON:0003053	92.58	gold quality
small intestine	UBERON:0002108	92.56	gold quality
right lung	UBERON:0002167	92.54	gold quality
tibial nerve	UBERON:0001323	92.53	gold quality
seminal vesicle	UBERON:0000998	92.50	gold quality
left adrenal gland cortex	UBERON:0035825	92.50	gold quality
gall bladder	UBERON:0002110	92.48	gold quality
colonic mucosa	UBERON:0000317	92.46	gold quality
adrenal gland	UBERON:0002369	92.46	gold quality
left uterine tube	UBERON:0001303	92.45	gold quality
ectocervix	UBERON:0012249	92.44	gold quality
bronchus	UBERON:0002185	92.42	gold quality
right uterine tube	UBERON:0001302	92.37	gold quality
embryo	UBERON:0000922	92.26	gold quality
adrenal cortex	UBERON:0001235	92.25	gold quality
subcutaneous adipose tissue	UBERON:0002190	92.20	gold quality
body of uterus	UBERON:0009853	92.17	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.17	gold quality
minor salivary gland	UBERON:0001830	92.06	gold quality
skin of hip	UBERON:0001554	92.04	gold quality
sigmoid colon	UBERON:0001159	92.03	gold quality
synovial joint	UBERON:0002217	92.03	gold quality
jejunal mucosa	UBERON:0000399	91.98	gold quality
saliva-secreting gland	UBERON:0001044	91.98	gold quality
left coronary artery	UBERON:0001626	91.98	gold quality
adrenal tissue	UBERON:0018303	91.98	gold quality
blood	UBERON:0000178	91.95	gold quality
thoracic mammary gland	UBERON:0005200	91.94	gold quality
mucosa of paranasal sinus	UBERON:0005030	91.93	gold quality
thoracic aorta	UBERON:0001515	91.90	gold quality
mammary gland	UBERON:0001911	91.87	gold quality
adipose tissue	UBERON:0001013	91.86	gold quality
ascending aorta	UBERON:0001496	91.82	gold quality
connective tissue	UBERON:0002384	91.79	gold quality
penis	UBERON:0000989	91.78	gold quality
duodenum	UBERON:0002114	91.71	gold quality
endometrium	UBERON:0001295	91.61	gold quality
upper arm skin	UBERON:0004263	91.57	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	91.54	gold quality
female reproductive system	UBERON:0000474	91.53	gold quality
germinal epithelium of ovary	UBERON:0001304	91.52	gold quality
hair follicle	UBERON:0002073	91.51	gold quality
right coronary artery	UBERON:0001625	91.49	gold quality
coronary artery	UBERON:0001621	91.44	gold quality
vagina	UBERON:0000996	91.42	gold quality
tendon	UBERON:0000043	91.41	gold quality
adipose tissue of abdominal region	UBERON:0007808	91.40	gold quality
muscle of leg	UBERON:0001383	91.39	gold quality
gastrocnemius	UBERON:0001388	91.38	gold quality
mucosa of sigmoid colon	UBERON:0004993	91.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	91.37	gold quality
prefrontal cortex	UBERON:0000451	91.36	gold quality
pancreas	UBERON:0001264	91.36	gold quality
bone marrow cell	CL:0002092	91.34	gold quality
lymph node	UBERON:0000029	91.31	gold quality
mouth mucosa	UBERON:0003729	91.30	gold quality
omental fat pad	UBERON:0010414	91.30	gold quality
left lobe of thyroid gland	UBERON:0001120	91.29	gold quality
peritoneum	UBERON:0002358	91.29	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

HPA expression

RNA tissue specificity: Low tissue specificity

showing 60 of 80 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM	Protein (IHC)
Bone marrow	tissue	83.5	medium
Parathyroid gland	tissue	49.9	medium
Ovary	tissue	48.9	low
Rectum	tissue	48.3	medium
Breast	tissue	47.0	medium
Colon	tissue	46.9	medium
Liver	tissue	46.7	low
Thymus	tissue	44.1
Small intestine	tissue	42.5	medium
Thyroid gland	tissue	42.0	medium
Epididymis	tissue	41.8	medium
Kidney	tissue	38.9	medium
Fallopian tube	tissue	36.4	medium
Lymph node	tissue	34.3	medium
Tonsil	tissue	34.2	low
Retina	tissue	33.9
Salivary gland	tissue	33.5	medium
Duodenum	tissue	33.2	medium
Placenta	tissue	32.8	medium
Endometrium 1	tissue	32.2	medium
Adrenal gland	tissue	32.0	medium
Prostate	tissue	31.3	medium
Cervix	tissue	30.8	medium
Pons	tissue	30.6
Skin 1	tissue	30.3	medium
Superior colliculi	tissue	30.2
Spleen	tissue	29.1	low
Seminal vesicle	tissue	28.8	medium
Vagina	tissue	28.6	low
Urinary bladder	tissue	28.6	medium
Skeletal muscle	tissue	28.4	low
Spinal cord	tissue	28.3
Thalamus	tissue	28.2
Midbrain	tissue	27.9
Lung	tissue	27.5	medium
Substantia nigra	tissue	27.3
Stomach 1	tissue	27.1	medium
Medulla oblongata	tissue	27.1
Smooth muscle	tissue	27.0	low
Tongue	tissue	27.0
Heart muscle	tissue	26.8	medium
Caudate putamen	tissue	26.5
Gallbladder	tissue	26.2	medium
Periaqueductal gray	tissue	25.5
Corpus callosum	tissue	25.1
Hippocampal formation	tissue	25.1
Esophagus	tissue	25.0	low
Pancreas	tissue	24.9	medium
Putamen	tissue	24.9
Cerebral cortex	tissue	24.3	medium
Occipital cortex	tissue	24.3
Frontal cortex	tissue	24.0
Septum	tissue	23.8
Cerebellum	tissue	23.7	medium
Choroid plexus	tissue	23.2
Adipose tissue	tissue	22.8	medium
Hypothalamus	tissue	22.8
Appendix	tissue	22.7	medium
Postcentral gyrus	tissue	22.4
Olfactory bulb	tissue	22.0

Brain sub-regions (HPA Brain Atlas): detected in 192; highest nTPM — Blood vessel (39.2), Dorsal spinal cord (28.3), Corpus callosum, genu (white matter) (28.2), Cerebellar cortex (28.1), Ventral spinal cord (26.8).

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

4 targets:

Target	Regulation
ABCB1	Activation
CDKN1A	Unknown
CDKN2A	Repression
MAOB	Repression

Upstream regulators (CollecTRI, top): EGR1, SP1, SP3

miRNA regulators (miRDB)

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

29 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-144-3P	99.94	73.98	2698
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-145-5P	99.92	71.13	1836
HSA-MIR-5195-3P	99.92	70.92	1877
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-6794-5P	99.76	66.38	1048
HSA-MIR-4716-3P	99.69	66.73	1022
HSA-MIR-549A-3P	99.54	68.17	825
HSA-MIR-143-3P	99.49	69.05	1457
HSA-MIR-4770	99.49	69.09	1451
HSA-MIR-516A-3P	99.46	67.96	1378
HSA-MIR-516B-3P	99.46	67.96	1378
HSA-MIR-7162-5P	99.46	68.08	1368
HSA-MIR-6853-3P	99.36	70.79	1558
HSA-MIR-1206	99.30	69.32	1016
HSA-MIR-6088	99.29	68.45	1284
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-4774-3P	98.90	67.82	737
HSA-MIR-4742-5P	98.89	68.41	1542
HSA-MIR-6804-5P	98.39	65.77	1084
HSA-MIR-506-5P	98.02	67.41	1065
HSA-MIR-3201	97.16	65.42	1044
HSA-MIR-3152-5P	96.98	66.88	819
HSA-MIR-4791	96.51	67.76	659
HSA-MIR-563	96.26	66.13	450
HSA-MIR-668-3P	96.18	65.80	673
HSA-MIR-380-5P	95.68	67.32	512

Functional genomics

gnomAD constraint: pLI 1.28e-10, LOEUF 1.44, missense Z 0.326 — population loss-of-function intolerance (pLI ≥ 0.9 = LoF-intolerant; lower LOEUF = more constrained). gnomAD

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000250454 — one region, missense o/e 0.98. DepMap (CRISPR cell-line fitness): dependent in 64.9% of screened cell lines.

Most-dependent cell lines (DepMap gene-effect, lower = stronger; ≤ −0.5 shown): UACC-893 (-2.713), KP-N-YN (-1.604), SW 1990 (-1.57), U-87 MG (-1.462), AsPC-1 (-1.362), SNU-761 (-1.361), HCC-78 (-1.341), HCC38 (-1.331), AM-38 (-1.27), KE-97 (-1.26), Hs 936.T (-1.255), HEL (-1.237), KASUMI-1 (-1.219), SU-DHL-10 (-1.204), NCI-H3122 (-1.183).

Literature-anchored findings (GeneRIF, showing 4)

• EAPP modulates E2F-regulated transcription, stimulates proliferation, and may be involved in the malignant transformation of cells. (PMID:15716352)
• Regulation of the EAPP promoter by GC-box binding proteins is reported. (PMID:18588995)
• results indicate that the level of EAPP is critical for cellular homeostasis (PMID:21258403)
• Independently of EAPP, E2F1 also increases the activity of the MDR1 promoter. (PMID:23542036)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	eapp	ENSDARG00000017272
mus_musculus	Eapp	ENSMUSG00000054302
rattus_norvegicus	Eapp	ENSRNOG00000004509
caenorhabditis_elegans		WBGENE00018609

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
SNX6	protein-coding	58533
SPTSSA	protein-coding	171546

Protein

Protein identifiers

E2F-associated phosphoprotein — Q56P03 (reviewed: Q56P03)

All UniProt accessions (3): G3V2W9, G3V5N6, Q56P03

UniProt curated annotations — full annotation on UniProt →

Function. May play an important role in the fine-tuning of both major E2F1 activities, the regulation of the cell-cycle and the induction of apoptosis. Promotes S-phase entry, and inhibits p14(ARP) expression.

Subunit / interactions. Interacts with E2F1. The C-terminal half binds the N-terminal of E2F1. Also interacts with E2F2 and E2F3, but not E2F4.

Subcellular location. Cytoplasm. Nucleus.

Tissue specificity. Ubiquitously expressed. Highest levels in heart, placenta, skeletal muscle and pancreas. Lower levels in brain, lung and kidney. In the brain, expressed in all regions with high levels in the cerebellum and cerebral cortex. Expressed in COS1 and transformed skin fibroblasts.

RefSeq proteins (2): NP_001305845, NP_060923* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019370	E2F-assoc_phosphoprotein	Family

Pfam: PF10238

UniProt features (17 total): modified residue 5, compositionally biased region 4, region of interest 3, sequence conflict 3, chain 1, sequence variant 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q56P03-F1	75.38	0.28

Human Protein Atlas

Protein class: Predicted intracellular proteins, Essential proteins

Protein evidence: Evidence at protein level

Subcellular location (HPA, imaging): nucleoplasm; nuclear speckles

Antibody reliability (HPA): IH approved · IF supported

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 (5)

Type	Positions
Phosphothreonine	37
Phosphoserine	109, 111, 17
N-acetylmethionine	1

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: 99 (showing top): IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GENTILE_UV_HIGH_DOSE_DN, GOBP_NEGATIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, GENTILE_UV_RESPONSE_CLUSTER_D7, YNGTTNNNATT_UNKNOWN, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, chr14q13, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_ELONGATION, GOCC_NUCLEAR_SPECK, GOCC_NUCLEAR_BODY, GOCC_RIBONUCLEOPROTEIN_GRANULE, MARSON_BOUND_BY_FOXP3_STIMULATED, MARSON_BOUND_BY_FOXP3_UNSTIMULATED, SCGGAAGY_ELK1_02, MGGAAGTG_GABP_B

GO Biological Process (3): positive regulation of cell population proliferation (GO:0008284), positive regulation of transcription elongation by RNA polymerase II (GO:0032968), negative regulation of transcription elongation by RNA polymerase II (GO:0034244)

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

GO Cellular Component (4): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytoplasm (GO:0005737), nuclear speck (GO:0016607)

GO top-level categories

14 GO namespaces:

Category	Terms
transcription elongation by RNA polymerase II	2
regulation of transcription elongation by RNA polymerase II	2
cellular anatomical structure	2
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
positive regulation of DNA-templated transcription, elongation	1
positive regulation of transcription by RNA polymerase II	1
negative regulation of DNA-templated transcription, elongation	1
binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
intracellular anatomical structure	1
nuclear ribonucleoprotein granule	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 6 of 8 annotations. The rest are phylogenetic / computational / electronic (IEA).

6 experimentally-supported GO terms:

GO term	NS	Evidence
negative regulation of transcription elongation by RNA polymerase II	BP	direct assay
positive regulation of cell population proliferation	BP	direct assay
positive regulation of transcription elongation by RNA polymerase II	BP	direct assay
nuclear speck	CC	direct assay
nucleoplasm	CC	direct assay
nucleus	CC	direct assay

Protein interactions and networks

STRING

showing 15 of 634 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
EAPP	E2F2	Q14209	642
EAPP	E2F3	O00716	620
EAPP	E2F4	Q16254	591
EAPP	E2F1	Q01094	536
EAPP	THYN1	Q9P016	469
EAPP	TGS1	Q96RS0	460
EAPP	ZNHIT2	Q9UHR6	457
EAPP	GK5	Q6ZS86	454
EAPP	DRG2	P55039	447
EAPP	ARFGEF3	Q5TH69	441
EAPP	COQ4	Q9Y3A0	438
EAPP	TSSC4	Q9Y5U2	436
EAPP	PPP2R3C	Q969Q6	435
EAPP	PSIP1	O75475	431
EAPP	GPBP1	Q86WP2	429

IntAct

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

6 partners by confidence:

Partner	Interaction type	MIscore	Records
AAR2	physical association	0.660	1
BYSL	physical association	0.560	3
TNFAIP8	physical association	0.560	3
SNRNP200	association	0.530	3
UBE3A	physical association	0.000	1
UBQLN4	physical association	0.000	1

BioGRID (139 interactions; top human partners by supporting records): AAR2 (Affinity Capture-MS; 7 records), PRPF8 (Affinity Capture-MS; 7 records), TSSC4 (Affinity Capture-MS; 6 records), ECD (Affinity Capture-MS; 5 records), CD2BP2 (Affinity Capture-MS; 4 records), DDX23 (Affinity Capture-MS; 4 records), EFTUD2 (Affinity Capture-MS; 4 records), SNRNP200 (Affinity Capture-MS; 4 records), DHX35 (Affinity Capture-MS; 3 records), GPATCH1 (Affinity Capture-MS; 3 records), LZTS2 (Affinity Capture-MS; 3 records), RUVBL2 (Affinity Capture-MS; 3 records), SNRPB (Affinity Capture-MS; 3 records), SNRPE (Affinity Capture-MS; 3 records), WDR83 (Affinity Capture-MS; 3 records)

SIGNOR signaling

2 signaling interactions:

A	Effect	B	Mechanism
EAPP	“up-regulates quantity by expression”	ABCB1	“transcriptional regulation”
EAPP	“down-regulates quantity by repression”	MAOB	“transcriptional regulation”

Disease & clinical

Genetic variants

Variant evidence for EAPP: 61 ClinVar records (0 pathogenic / likely pathogenic); 3 GWAS associations.

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	44
Likely benign	2
Benign	1

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 20 predictions of 348):

Position(s)	Effect	Δscore	Sites
14:34533540–34533541	acceptor_loss	1.0000	5
14:34533550–34533551	acceptor_gain	1.0000	2
14:34536092	donor_loss	1.0000	2
14:34536276–34536277	acceptor_loss	1.0000	3
14:34536281	acceptor_gain	1.0000
14:34536285–34536287	acceptor_gain	1.0000	2
14:34536294	acceptor_gain	1.0000
14:34533443	donor_loss	0.9900	2
14:34533540	acceptor_loss	0.9900
14:34533546	acceptor_gain	0.9900

AlphaMissense

821 missense substitutions predicted likely pathogenic (of 1,902 scored), across 169 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
M65	9	0.973	0.996
H195	8	0.997	0.999
D144	8	0.995	0.998
H276	8	0.989	0.999
F61	8	0.987	0.999
F277	8	0.987	0.999
D147	8	0.983	0.996
D270	8	0.983	0.996
F206	8	0.975	1.000
D176	8	0.970	0.990
F278	8	0.970	0.999
D191	8	0.961	0.987
D140	8	0.946	0.986
S283	8	0.919	0.998
N209	8	0.909	0.991
F107	8	0.907	0.991
M205	8	0.894	0.989
D59	8	0.878	0.973
D28	8	0.874	0.975
D110	8	0.766	0.924

HPA cancer prognostics

RNA cancer specificity: Low cancer specificity

Human Protein Atlas survival analysis — favorable = higher expression predicts better survival.

1 prognostic cancer types:

Cancer	Prognostic	p-value
Kidney Renal Clear Cell Carcinoma (TCGA)	favorable	3.28e-08

Disease associations

OMIM: gene MIM:609486 | disease phenotypes:

GWAS associations

3 associations:

Study	Trait	p-value
GCST009863_21	Insulin-related traits (multivariate analysis)	6e-9
GCST009391_1218	Metabolite levels	3e-6
GCST002112_10	Celiac disease	4e-6

EFO canonical traits (from GWAS)

2 canonical traits:

EFO ID	Trait name
EFO:0010446	2-hydroxyglutaric acid measurement
EFO:0004467	insulin measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	affects expression, increases abundance, decreases expression	2
Particulate Matter	decreases expression, increases abundance	2
FR900359	increases phosphorylation	1
bisphenol F	affects cotreatment, increases expression	1
TAK-243	increases sumoylation	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	decreases expression	1
zinc chromate	increases abundance, increases expression	1
coumarin	affects phosphorylation	1
chromium hexavalent ion	increases abundance, increases expression	1
ICG 001	increases expression	1
abrine	increases expression	1
1-(4-(6-bromobenzo(1,3)dioxol-5-yl)-3a,4,5,9b-tetrahydro-3H-cyclopenta(c)quinolin-8-yl)ethanone	decreases phosphorylation	1
bisphenol S	affects cotreatment, increases expression	1
Acetaminophen	increases expression	1
Vehicle Emissions	increases abundance, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Dexamethasone	affects cotreatment, increases expression	1
Doxorubicin	decreases expression	1
Estradiol	increases phosphorylation	1
Ethyl Methanesulfonate	increases expression	1
Formaldehyde	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1
Rotenone	increases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Acrylamide	increases expression	1

Cellosaurus cell lines

4 cell lines: 4 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_SL33	HAP1 EAPP (-) 1	Cancer cell line	Male
CVCL_SL34	HAP1 EAPP (-) 2	Cancer cell line	Male
CVCL_SL35	HAP1 EAPP (-) 3	Cancer cell line	Male
CVCL_SL36	HAP1 EAPP (-) 4	Cancer cell line	Male

Clinical trials (associated diseases)

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