PLAAT5

phospholipase A and acyltransferase 5, the group of Phospholipase A and acyltransferase family

Basic information

Region (hg38): 11:63461403-63491194

Previous symbols: [ "HRASLS5" ]

Links

ENSG00000168004 ∙ NCBI:117245 ∙ OMIM:611474 ∙ HGNC:24978 ∙ Uniprot:Q96KN8 ∙ 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 PLAAT5 gene.

• Inborn genetic diseases (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PLAAT5 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in PLAAT5

This is a list of pathogenic ClinVar variants found in the PLAAT5 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-63463550-T-C		not specified	Uncertain significance (Dec 14, 2022)
11-63463585-G-T		not specified	Uncertain significance (May 22, 2023)
11-63466120-C-T		not specified	Uncertain significance (Dec 02, 2021)
11-63466327-C-T		not specified	Uncertain significance (Nov 09, 2021)
11-63466328-G-A		not specified	Uncertain significance (Aug 08, 2023)
11-63468413-T-C		not specified	Uncertain significance (Dec 21, 2023)
11-63468419-A-G		not specified	Uncertain significance (Aug 20, 2023)
11-63468428-A-C		not specified	Uncertain significance (Jul 19, 2023)
11-63468434-A-T		not specified	Uncertain significance (Dec 20, 2021)
11-63488940-G-T		not specified	Uncertain significance (Jul 12, 2023)
11-63490963-T-G		not specified	Uncertain significance (Mar 24, 2023)
11-63491006-T-A		not specified	Uncertain significance (Feb 05, 2024)
11-63491031-C-T		not specified	Uncertain significance (Mar 02, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PLAAT5	protein_coding	protein_coding	ENST00000301790	6	29791

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000212	0.481	125676	0	72	125748	0.000286

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.204	149	156	0.954	0.00000851	1774
Missense in Polyphen		58	59.176	0.98012		706
Synonymous	0.839	55	63.5	0.866	0.00000383	553
Loss of Function	0.695	10	12.7	0.789	6.02e-7	152

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000899	0.000899
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.0000616	0.0000615
Middle Eastern	0.000218	0.000217
South Asian	0.00118	0.00118
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: catalyzes N-acylation of phosphatidylethanolamine (PE) to generate N-Acylphosphatidylethanolamine (NAPE) a precursor of bioactive N-acylethanolamines, including the endocannabinoid anandamide. {ECO:0000269|PubMed:19000777}.
• Pathway: Metabolism of lipids;Metabolism;Glycerophospholipid biosynthesis;Phospholipid metabolism;Acyl chain remodelling of PE (Consensus)

Recessive Scores

• pRec: 0.0602

Intolerance Scores

• rvis_EVS: 1.48
• rvis_percentile_EVS: 95.32

Haploinsufficiency Scores

• pHI: 0.0466
• hipred: N
• hipred_score: 0.112

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0351

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Hrasls5

Gene ontology

• Biological process: N-acylphosphatidylethanolamine metabolic process
• Molecular function: N-acyltransferase activity