PPL

periplakin, the group of Plakins

Basic information

Region (hg38): 16:4882507-4960741

Links

ENSG00000118898

∙ NCBI:5493 ∙ OMIM:602871 ∙ HGNC:9273 ∙ Uniprot:O60437 ∙ 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 PPL gene.

not_specified (393 variants)
not_provided (54 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPL gene is commonly pathogenic or not. These statistics are base on transcript: NM_000002705.5. 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				12 clinvar	11 clinvar	23
missense			377 clinvar	26 clinvar	10 clinvar	413
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	377	38	21

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPL	protein_coding	protein_coding	ENST00000345988	22	78235

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.51e-42	0.000143	125495	1	252	125748	0.00101

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-3.66	1408	1.07e+3	1.31	0.0000744	11425
Missense in Polyphen		414	305.05	1.3572		3382
Synonymous	-4.86	603	469	1.29	0.0000322	3418
Loss of Function	1.33	72	85.2	0.845	0.00000443	948

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00205	0.00204
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.00120	0.00120
Finnish	0.000981	0.000924
European (Non-Finnish)	0.000796	0.000783
Middle Eastern	0.00120	0.00120
South Asian	0.00193	0.00190
Other	0.00114	0.00114

dbNSFP

Source: dbNSFP

Function: FUNCTION: Component of the cornified envelope of keratinocytes. May link the cornified envelope to desmosomes and intermediate filaments. May act as a localization signal in PKB/AKT-mediated signaling. {ECO:0000269|PubMed:9412476}.;
Pathway: miR-targeted genes in epithelium - TarBase;Keratinization;Developmental Biology;Butyrophilin (BTN) family interactions;Immune System;Adaptive Immune System;Formation of the cornified envelope (Consensus)

Recessive Scores

pRec: 0.300

Intolerance Scores

loftool: 0.597
rvis_EVS: -0.35
rvis_percentile_EVS: 29.55

Haploinsufficiency Scores

pHI: 0.211
hipred: Y
hipred_score: 0.564
ghis: 0.484

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.894

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Ppl
Phenotype: normal phenotype;

Gene ontology

Biological process: response to mechanical stimulus;wound healing;intermediate filament cytoskeleton organization;cornification
Cellular component: cornified envelope;nucleus;cytoplasm;mitochondrion;cytosol;cytoskeleton;intermediate filament;membrane;desmosome;extracellular exosome
Molecular function: structural molecule activity;structural constituent of cytoskeleton;protein binding;cadherin binding