PEAR1

protein-coding

platelet endothelial aggregation receptor 1

Gene summary

PEAR1 is a platelet receptor that signals upon the formation of platelet-platelet contacts independent of platelet activation and secondary to platelet aggregation (Nanda et al., 2005 [PubMed 15851471]).[supplied by OMIM, Mar 2008]

Previous symbols:

MEGF12

MANE transcript

NM_001080471.3

Inheritance

—

ClinVar variants

U:171B:13

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.68

Max pathogenic AF

—

Genomic locus

chr1:156,893,698-156,916,429

External References & Databases

Ensembl (ENSG00000187800)

Transcript & Mutation Effects

hg38 • Region Span ~22.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PEAR1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 169

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001080471.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			5 clinvar	2 clinvar	2 clinvar	9
missense			164 clinvar	8 clinvar	1 clinvar	173
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	171	10	3	184

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 35 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001080471.3	RefSeq	NP_001073940.1	22	MANE Select
ENST00000292357.8	Ensembl	ENSP00000292357.7	22	MANE Select
NM_001353682.2	RefSeq	NP_001340611.1	21	Standard
NM_001353683.2	RefSeq	NP_001340612.1	21	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

phosphatidylinositol 3-kinase signaling
protein kinase B signaling
recognition of apoptotic cell
negative regulation of Notch signaling pathway
platelet aggregation

Molecular Function

signaling receptor activity

Cellular Component

phagocytic cup
integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000338302
Coding exons: 22
Length: 22737
Individuals with no LoFs: 125647
Homozygous LoFs: 0
Heterozygous LoFs: 101
Defined: 125748
p: 0.000402

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.712	595	646	0.921	0.0000391	6697
Missense (PolyPhen)		179	213.75	0.83743		2278
Synonymous	-0.297	255	249	1.02	0.0000155	1991
Loss of Function	2.26	40	58.7	0.682	0.00000303	614

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00037	0.00037	rare
Latino/Admixed American	0.00018	0.00017	rare
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.0012	0.0011	notable
Finnish	0.00019	0.00018	rare
European (Non-Finnish)	0.00037	0.00036	rare
South Asian	0.00056	0.00056	rare
Other	0.00067	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: When overexpressed, reduces the number of both early and late non-adherent myeloid progenitor cells. {ECO:0000250}.;

Recessive Scores

pRec: 0.103

Intolerance Scores

LoFtool: 0.208
RVIS EVS: 0.68
RVIS percentile EVS: 84.77

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Indispensability pred.: N
Indispensability score: 0.104

Gene Damage Prediction

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