EPN2
Basic information
Region (hg38): 17:19215615-19336715
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (55 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the EPN2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014964.5. Only rare variants are included in the table.
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.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 54 | 55 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 54 | 1 | 0 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
EPN2 | protein_coding | protein_coding | ENST00000314728 | 9 | 121101 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.748 | 0.252 | 125726 | 0 | 22 | 125748 | 0.0000875 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.39 | 301 | 377 | 0.799 | 0.0000230 | 4078 |
Missense in Polyphen | 69 | 117.95 | 0.58499 | 1254 | ||
Synonymous | 1.45 | 141 | 165 | 0.857 | 0.0000107 | 1380 |
Loss of Function | 3.87 | 5 | 26.5 | 0.189 | 0.00000139 | 277 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000618 | 0.0000615 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000585 | 0.0000544 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.000108 | 0.000105 |
Middle Eastern | 0.0000585 | 0.0000544 |
South Asian | 0.000230 | 0.000229 |
Other | 0.000164 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role in the formation of clathrin-coated invaginations and endocytosis. {ECO:0000269|PubMed:10567358}.;
- Pathway
- Endocytosis - Homo sapiens (human);Vesicle-mediated transport;Membrane Trafficking;Clathrin-mediated endocytosis;EGFR1;Cargo recognition for clathrin-mediated endocytosis
(Consensus)
Recessive Scores
- pRec
- 0.102
Intolerance Scores
- loftool
- 0.521
- rvis_EVS
- -0.38
- rvis_percentile_EVS
- 28.11
Haploinsufficiency Scores
- pHI
- 0.218
- hipred
- Y
- hipred_score
- 0.651
- ghis
- 0.505
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.756
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Epn2
- Phenotype
- homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); normal phenotype; reproductive system phenotype; neoplasm; embryo phenotype;
Gene ontology
- Biological process
- endocytosis;negative regulation of vascular endothelial growth factor receptor signaling pathway;positive regulation of Notch signaling pathway;membrane organization;negative regulation of sprouting angiogenesis
- Cellular component
- cytosol;clathrin coat of endocytic vesicle;intracellular membrane-bounded organelle
- Molecular function
- protein binding;lipid binding;cadherin binding