PILRB

paired immunoglobin like type 2 receptor beta, the group of V-set domain containing

Basic information

Region (hg38): 7:100352175-100367831

Links

ENSG00000121716 ∙ NCBI:29990 ∙ OMIM:605342 ∙ HGNC:18297 ∙ Uniprot:Q9UKJ0 ∙ 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 PILRB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PILRB 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			17	2		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	2	0

Variants in PILRB

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

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

Position	Type	Phenotype	Significance	ClinVar
7-100358713-A-T		not specified	Uncertain significance (Jun 29, 2022)
7-100358758-A-G		not specified	Uncertain significance (Mar 07, 2024)
7-100358779-C-T		not specified	Uncertain significance (Feb 06, 2023)
7-100358792-A-G		not specified	Uncertain significance (Mar 16, 2022)
7-100358843-G-A		not specified	Uncertain significance (Aug 14, 2023)
7-100358848-C-G		not specified	Uncertain significance (Feb 15, 2023)
7-100358854-C-T		not specified	Uncertain significance (May 09, 2024)
7-100358911-C-T		not specified	Uncertain significance (Jan 17, 2024)
7-100358912-G-A		not specified	Uncertain significance (Aug 16, 2021)
7-100358928-G-T		not specified	Uncertain significance (Mar 26, 2024)
7-100358941-G-A		not specified	Likely benign (Jun 10, 2024)
7-100358971-C-G		not specified	Uncertain significance (Jun 21, 2023)
7-100359007-G-A		not specified	Uncertain significance (Apr 07, 2023)
7-100359041-T-G		not specified	Likely benign (Mar 25, 2024)
7-100359070-A-G		not specified	Uncertain significance (Feb 11, 2022)
7-100359074-C-T		not specified	Uncertain significance (Dec 13, 2023)
7-100359343-C-A		not specified	Likely benign (Feb 05, 2024)
7-100359372-A-G		not specified	Likely benign (Aug 17, 2022)
7-100359426-T-C		not specified	Uncertain significance (Dec 14, 2021)
7-100359435-A-G		not specified	Uncertain significance (Sep 29, 2022)
7-100359472-C-T		not specified	Uncertain significance (Jun 05, 2024)
7-100359481-A-G		not specified	Uncertain significance (Mar 29, 2023)
7-100359498-C-G		not specified	Uncertain significance (Sep 17, 2021)
7-100359508-T-G		not specified	Uncertain significance (Aug 16, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PILRB	protein_coding	protein_coding	ENST00000610247	4	31620

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000125	0.639	123755	0	3	123758	0.0000121

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.226	132	125	1.06	0.00000713	1432
Missense in Polyphen		51	49.124	1.0382		586
Synonymous	-1.75	70	53.7	1.30	0.00000316	487
Loss of Function	0.770	7	9.57	0.731	5.01e-7	101

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000645	0.0000645
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	0.0000654	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Paired receptors consist of highly related activating and inhibitory receptors and are widely involved in the regulation of the immune system. PILRB is thought to act as a cellular signaling activating receptor that associates with ITAM-bearing adapter molecules on the cell surface.
• Pathway: Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System (Consensus)

Recessive Scores

• pRec: 0.0732

Intolerance Scores

• loftool: 0.743
• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

• pHI: 0.0699
• hipred: N
• hipred_score: 0.112
• ghis: 0.560

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.252

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Pilrb2

Gene ontology

• Biological process: transmembrane receptor protein tyrosine kinase signaling pathway;activation of transmembrane receptor protein tyrosine kinase activity;regulation of immune response
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: protein binding;MHC class I protein binding