PLIN4

perilipin 4, the group of Perilipins

Basic information

Region (hg38): 19:4502192-4518486

Previous symbols: [ "KIAA1881" ]

Links

ENSG00000167676 ∙ NCBI:729359 ∙ OMIM:613247 ∙ HGNC:29393 ∙ Uniprot:Q96Q06 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• vacuolar Neuromyopathy (Moderate), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Myopathy with rimmed ubiquitin-positive autophagic vacuolation, autosomal dominant	AD	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Musculoskeletal	32451610; 35499779; 36151849; 37145156

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PLIN4 gene.

• not_specified (262 variants)
• not_provided (73 variants)
• Vacuolar_Neuromyopathy (1 variants)
• Coffin-Siris_syndrome_1 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PLIN4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001367868.2. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			8	56		64
missense			243	32	2	277
nonsense					1	1
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	252	88	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PLIN4	protein_coding	protein_coding	ENST00000301286	6	15513

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.58e-16	0.00372	124312	40	379	124731	0.00168

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.68	901	770	1.17	0.0000486	8425
Missense in Polyphen		209	195.72	1.0679		2374
Synonymous	-7.45	522	346	1.51	0.0000265	2964
Loss of Function	-0.502	22	19.6	1.12	8.49e-7	278

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00345	0.00302
Ashkenazi Jewish	0.000697	0.000497
East Asian	0.00295	0.00284
Finnish	0.000744	0.000650
European (Non-Finnish)	0.00212	0.00189
Middle Eastern	0.00295	0.00284
South Asian	0.00180	0.00150
Other	0.00235	0.00198

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May play a role in triacylglycerol packaging into adipocytes. May function as a coat protein involved in the biogenesis of lipid droplets (By similarity). {ECO:0000250}.
• Pathway: PPAR signaling pathway - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.102

Intolerance Scores

• loftool: 0.888
• rvis_EVS: 5.99
• rvis_percentile_EVS: 99.86

Haploinsufficiency Scores

• pHI: 0.163
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Plin4
• Phenotype: homeostasis/metabolism phenotype; 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)

Gene ontology

• Cellular component: lipid droplet;cytosol;plasma membrane;intracellular membrane-bounded organelle