PINLYP

phospholipase A2 inhibitor and LY6/PLAUR domain containing, the group of LY6/PLAUR domain containing

Basic information

Region (hg38): 19:43575800-43583964

Links

ENSG00000234465 ∙ NCBI:390940 ∙ ∙ HGNC:44206 ∙ Uniprot:A6NC86 ∙ 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 PINLYP gene.

• Inborn genetic diseases (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PINLYP 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	12	0	0

Variants in PINLYP

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

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

Position	Type	Phenotype	Significance	ClinVar
19-43577168-C-T		not specified	Uncertain significance (Jul 11, 2023)
19-43577208-G-C		not specified	Uncertain significance (Jun 23, 2023)
19-43577217-C-T		not specified	Uncertain significance (Sep 22, 2022)
19-43577243-T-G		not specified	Uncertain significance (Aug 19, 2023)
19-43578630-C-G		not specified	Uncertain significance (Mar 01, 2024)
19-43578656-G-A		not specified	Uncertain significance (Nov 10, 2023)
19-43578676-T-C		not specified	Uncertain significance (Nov 21, 2023)
19-43578677-G-C		not specified	Uncertain significance (Dec 12, 2023)
19-43581233-C-T		not specified	Uncertain significance (Dec 07, 2021)
19-43581274-G-A		not specified	Uncertain significance (May 26, 2022)
19-43581604-G-A		not specified	Uncertain significance (Feb 15, 2023)
19-43581614-C-A		not specified	Uncertain significance (Aug 26, 2022)
19-43581631-T-G		not specified	Uncertain significance (Nov 27, 2023)
19-43581656-C-T		not specified	Uncertain significance (Jun 13, 2023)
19-43581898-G-A		not specified	Uncertain significance (Aug 02, 2023)
19-43581928-A-G		not specified	Uncertain significance (May 17, 2023)
19-43581980-A-G		not specified	Uncertain significance (Jan 05, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PINLYP	protein_coding	protein_coding	ENST00000562365	3	7165

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.655	0.322	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.569	55	68.2	0.806	0.00000351	776
Missense in Polyphen		24	24.426	0.98255		269
Synonymous	-0.240	26	24.5	1.06	0.00000145	207
Loss of Function	1.72	0	3.45	0.00	1.46e-7	45

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.537

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Pinlyp
• Phenotype: normal phenotype

Gene ontology

• Biological process: negative regulation of catalytic activity
• Cellular component: extracellular region
• Molecular function: phospholipase inhibitor activity