PNPLA5

patatin like phospholipase domain containing 5, the group of Patatin like phospholipase domain containing

Basic information

Region (hg38): 22:43879678-43892013

Links

ENSG00000100341 ∙ NCBI:150379 ∙ OMIM:611589 ∙ HGNC:24888 ∙ Uniprot:Q7Z6Z6 ∙ 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 PNPLA5 gene.

• not_specified (64 variants)
• PNPLA5-related_disorder (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PNPLA5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000138814.4. 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				1	3	4
missense			61	3	3	67
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	61	4	6

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PNPLA5	protein_coding	protein_coding	ENST00000216177	9	12336

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000119	0.822	125595	0	153	125748	0.000609

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.353	241	226	1.07	0.0000125	2725
Missense in Polyphen		78	73.735	1.0578		892
Synonymous	-0.00928	102	102	1.00	0.00000617	878
Loss of Function	1.40	12	18.5	0.648	7.95e-7	215

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00153	0.00149
Ashkenazi Jewish	0.00	0.00
East Asian	0.000220	0.000217
Finnish	0.00117	0.00116
European (Non-Finnish)	0.000829	0.000791
Middle Eastern	0.000220	0.000217
South Asian	0.0000328	0.0000327
Other	0.000667	0.000652

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Lipid hydrolase. {ECO:0000250}.
• Pathway: Metabolism of lipids;Metabolism;Triglyceride catabolism;Triglyceride metabolism (Consensus)

Recessive Scores

• pRec: 0.0945

Intolerance Scores

• loftool: 0.799
• rvis_EVS: 0.58
• rvis_percentile_EVS: 82.25

Haploinsufficiency Scores

• pHI: 0.180
• hipred: N
• hipred_score: 0.180
• ghis: 0.460

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0704

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Pnpla5

Gene ontology

• Biological process: triglyceride catabolic process;lipid homeostasis
• Cellular component: cytoplasm;lipid droplet;cytosol;membrane
• Molecular function: triglyceride lipase activity