EVPLL

envoplakin like, the group of Plakins

Basic information

Region (hg38): 17:18377778-18389647

Links

ENSG00000214860 ∙ NCBI:645027 ∙ ∙ HGNC:35236 ∙ Uniprot:A8MZ36 ∙ 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 EVPLL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EVPLL 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			26			26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	26	0	1

Variants in EVPLL

This is a list of pathogenic ClinVar variants found in the EVPLL region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-18380966-G-A		not specified	Uncertain significance (Feb 28, 2024)
17-18381414-G-C		not specified	Uncertain significance (Apr 25, 2023)
17-18381433-G-A		not specified	Uncertain significance (Jul 16, 2024)
17-18381437-C-T		not specified	Uncertain significance (Oct 13, 2021)
17-18381439-G-A		not specified	Uncertain significance (Mar 15, 2024)
17-18381475-A-G		not specified	Uncertain significance (Aug 26, 2024)
17-18381481-C-T		not specified	Uncertain significance (Oct 12, 2021)
17-18381482-G-A		not specified	Uncertain significance (Dec 11, 2024)
17-18381517-A-G		not specified	Uncertain significance (Sep 22, 2023)
17-18381607-G-A		not specified	Uncertain significance (Mar 19, 2024)
17-18381612-G-C		not specified	Uncertain significance (Jun 22, 2021)
17-18381614-T-G		not specified	Uncertain significance (Jan 30, 2025)
17-18381622-C-T		not specified	Uncertain significance (Dec 09, 2023)
17-18381661-G-A		not specified	Uncertain significance (Dec 28, 2022)
17-18381669-G-A		not specified	Uncertain significance (May 15, 2024)
17-18381685-C-T		not specified	Uncertain significance (Apr 25, 2022)
17-18381701-G-A		not specified	Uncertain significance (May 24, 2023)
17-18382615-C-A		not specified	Uncertain significance (Oct 06, 2021)
17-18382630-G-A		not specified	Uncertain significance (Jan 02, 2025)
17-18382852-C-A		not specified	Uncertain significance (Jun 06, 2023)
17-18382858-C-G		not specified	Uncertain significance (Jun 07, 2024)
17-18383054-G-A		not specified	Uncertain significance (Aug 12, 2021)
17-18383054-G-C		not specified	Uncertain significance (Jan 21, 2025)
17-18383106-C-T		not specified	Uncertain significance (Dec 24, 2024)
17-18383166-G-C		not specified	Uncertain significance (Apr 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EVPLL	protein_coding	protein_coding	ENST00000399134	9	11986

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.90e-14	0.0170	125700	0	30	125730	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.522	169	189	0.893	0.0000123	1878
Missense in Polyphen		57	54.33	1.0491		630
Synonymous	0.109	78	79.2	0.984	0.00000553	564
Loss of Function	-0.0848	20	19.6	1.02	0.00000109	190

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000538	0.000517
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000912	0.0000879
Middle Eastern	0.0000544	0.0000544
South Asian	0.000168	0.000163
Other	0.000341	0.000326

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.86
• rvis_percentile_EVS: 88.56

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.188

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0694

Gene Damage Prediction

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

Gene ontology

• Biological process: epidermis development;wound healing;intermediate filament cytoskeleton organization
• Cellular component: cornified envelope;cytoplasm;intermediate filament;membrane
• Molecular function: structural molecule activity;intermediate filament binding;protein binding, bridging