EPGN

epithelial mitogen

Basic information

Region (hg38): 4:74308470-74316789

Links

ENSG00000182585

∙ NCBI:255324 ∙ OMIM:618717 ∙ HGNC:17470 ∙ Uniprot:Q6UW88 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EPGN gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EPGN gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EPGN	protein_coding	protein_coding	ENST00000413830	5	6835

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000239	0.539	125688	0	36	125724	0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0625	79	80.6	0.980	0.00000384	982
Missense in Polyphen		20	21.278	0.93994		281
Synonymous	0.0984	29	29.7	0.977	0.00000154	299
Loss of Function	0.466	6	7.36	0.815	3.07e-7	105

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000183	0.000182
Ashkenazi Jewish	0.0000996	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000248	0.000246
Middle Eastern	0.00	0.00
South Asian	0.0000339	0.0000327
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Promotes the growth of epithelial cells. May stimulate the phosphorylation of EGFR and mitogen-activated protein kinases. {ECO:0000269|PubMed:15611079}.;

Recessive Scores

pRec: 0.330

Intolerance Scores

loftool
rvis_EVS: -0.23
rvis_percentile_EVS: 36.86

Haploinsufficiency Scores

pHI: 0.335
hipred: N
hipred_score: 0.219
ghis: 0.463

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.0138

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Epgn
Phenotype: homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; hematopoietic system phenotype;

Gene ontology

Biological process: MAPK cascade;activation of MAPK activity;angiogenesis;epidermal growth factor receptor signaling pathway;positive regulation of cell population proliferation;positive regulation of MAP kinase activity;positive regulation of epidermal growth factor-activated receptor activity;positive regulation of mitotic nuclear division;positive regulation of epithelial cell proliferation
Cellular component: extracellular space;integral component of plasma membrane
Molecular function: epidermal growth factor receptor binding;growth factor activity