EPPK1

epiplakin 1, the group of Plakins

Basic information

Region (hg38): 8:143857324-143878467

Links

ENSG00000261150 ∙ NCBI:83481 ∙ OMIM:607553 ∙ HGNC:15577 ∙ Uniprot:P58107 ∙ 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 EPPK1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EPPK1 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				108	21	129
missense			159	50	31	240
nonsense			2			2
start loss						0
frameshift			2	1	4	7
inframe indel				1	1	2
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	163	160	57

Variants in EPPK1

This is a list of pathogenic ClinVar variants found in the EPPK1 region.

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

Position	Type	Phenotype	Significance	ClinVar
8-143858455-C-T			Likely benign (Feb 01, 2023)
8-143866018-G-T		EPPK1-related disorder	Likely benign (Jun 21, 2021)
8-143866052-A-G		not specified	Uncertain significance (Jun 22, 2021)
8-143866084-G-A		EPPK1-related disorder	Likely benign (Feb 04, 2022)
8-143866099-G-A		EPPK1-related disorder	Likely benign (Apr 27, 2021)
8-143866135-G-A		EPPK1-related disorder	Likely benign (Jun 01, 2021)
8-143866150-G-A		EPPK1-related disorder	Likely benign (Apr 30, 2021)
8-143866163-C-T		EPPK1-related disorder	Benign (Apr 15, 2021)
8-143866186-G-A		EPPK1-related disorder	Likely benign (Apr 26, 2022)
8-143866216-G-A		EPPK1-related disorder	Likely benign (Jul 07, 2021)
8-143866225-G-A		EPPK1-related disorder	Likely benign (Apr 21, 2022)
8-143866330-G-A		EPPK1-related disorder	Likely benign (Apr 28, 2021)
8-143866339-G-A		EPPK1-related disorder	Likely benign (Sep 02, 2021)
8-143866375-G-A		EPPK1-related disorder	Likely benign (Apr 19, 2021)
8-143866447-G-A		EPPK1-related disorder	Likely benign (May 11, 2021)
8-143866459-C-T		EPPK1-related disorder	Likely benign (Nov 04, 2021)
8-143866486-G-A		EPPK1-related disorder	Likely benign (Sep 17, 2021)
8-143866498-G-A		EPPK1-related disorder	Likely benign (Apr 14, 2021)
8-143866522-G-A		EPPK1-related disorder	Likely benign (Sep 17, 2021)
8-143866543-G-A		EPPK1-related disorder	Likely benign (May 17, 2022)
8-143866597-G-A		EPPK1-related disorder	Likely benign (Oct 17, 2022)
8-143866598-T-A		not specified	Uncertain significance (Nov 14, 2023)
8-143866600-G-T		EPPK1-related disorder	Likely benign (Nov 26, 2021)
8-143866606-G-T		EPPK1-related disorder	Likely benign (Nov 22, 2021)
8-143866608-CG-C		EPPK1-related disorder	Benign (Apr 14, 2021)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Cytoskeletal linker protein that connects to intermediate filaments and controls their reorganization in response to stress (PubMed:15671067, PubMed:27206504, PubMed:23398049). In response to mechanical stress like wound healing, is associated with the machinery for cellular motility by slowing down keratinocyte migration and proliferation and accelerating keratin bundling in proliferating keratinocytes thus contributing to tissue architecture (PubMed:27206504, PubMed:23398049). However in wound healing in corneal epithelium also positively regulates cell differentiation and proliferation and negatively regulates migration thereby controlling corneal epithelium morphogenesis and integrity. In response to cellular stress, plays a role in keratin filament reorganization, probably by protecting keratin filaments against disruption. During liver and pancreas injuries, plays a protective role by chaperoning disease-induced intermediate filament reorganization (By similarity). {ECO:0000250|UniProtKB:Q8R0W0, ECO:0000269|PubMed:15671067, ECO:0000269|PubMed:23398049, ECO:0000269|PubMed:27206504}.
• Pathway: EGFR1 (Consensus)

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.146
• ghis: 0.398

Essentials

• essential_gene_CRISPR2: S
• gene_indispensability_pred: E
• gene_indispensability_score: 0.539

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Eppk1
• Phenotype: normal phenotype; homeostasis/metabolism phenotype; cellular phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan)

Gene ontology

• Biological process: negative regulation of keratinocyte proliferation;negative regulation of cell migration;wound healing;intermediate filament cytoskeleton organization;intermediate filament organization;intermediate filament bundle assembly;negative regulation of epithelial cell proliferation;negative regulation of keratinocyte migration;negative regulation of wound healing;regulation of epithelium regeneration
• Cellular component: cytoplasm;cytoskeleton;intermediate filament;bicellular tight junction;membrane;basolateral plasma membrane;apicolateral plasma membrane;hemidesmosome;cell projection;keratin filament;cell periphery;perinucleolar compartment
• Molecular function: RNA binding;structural molecule activity;cytoskeletal protein binding;intermediate filament binding;keratin filament binding