OSCAR

osteoclast associated Ig-like receptor, the group of Immunoglobulin like domain containing

Basic information

Region (hg38): 19:54094668-54102692

Links

ENSG00000170909 ∙ NCBI:126014 ∙ OMIM:606862 ∙ HGNC:29960 ∙ Uniprot:Q8IYS5 ∙ 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 OSCAR gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OSCAR 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			26	2		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	26	2	0

Variants in OSCAR

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

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

Position	Type	Phenotype	Significance	ClinVar
19-54095752-C-G		not specified	Uncertain significance (Jan 02, 2024)
19-54095763-G-A		not specified	Uncertain significance (Nov 19, 2022)
19-54095820-G-T		not specified	Uncertain significance (Jan 22, 2024)
19-54095824-C-T		not specified	Uncertain significance (Dec 12, 2023)
19-54095853-C-T		not specified	Uncertain significance (May 29, 2024)
19-54095883-A-G		not specified	Uncertain significance (Apr 22, 2022)
19-54095887-C-G		not specified	Uncertain significance (May 15, 2024)
19-54096013-A-T		not specified	Uncertain significance (Mar 15, 2024)
19-54096021-G-A		not specified	Uncertain significance (Jun 22, 2021)
19-54096022-G-A		not specified	Uncertain significance (Jan 11, 2023)
19-54096027-G-A		not specified	Uncertain significance (Mar 04, 2024)
19-54096028-C-A		not specified	Uncertain significance (Mar 04, 2024)
19-54096045-A-T		not specified	Uncertain significance (Aug 12, 2021)
19-54096048-A-G		not specified	Likely benign (Oct 06, 2022)
19-54096050-G-C		not specified	Uncertain significance (Sep 06, 2022)
19-54096069-C-T		not specified	Uncertain significance (Dec 14, 2021)
19-54096076-C-G		not specified	Uncertain significance (Jun 16, 2024)
19-54096082-G-T		not specified	Uncertain significance (Oct 04, 2022)
19-54096087-C-T		not specified	Uncertain significance (Feb 03, 2022)
19-54096091-C-A		not specified	Uncertain significance (Dec 14, 2021)
19-54096099-C-T		not specified	Uncertain significance (Aug 13, 2021)
19-54096151-C-T		not specified	Uncertain significance (Feb 16, 2023)
19-54096927-C-A		not specified	Uncertain significance (Nov 30, 2022)
19-54096927-C-T		not specified	Uncertain significance (Jun 16, 2023)
19-54097017-A-G		not specified	Likely benign (Nov 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OSCAR	protein_coding	protein_coding	ENST00000359649	5	8068

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000336	0.613	125733	0	15	125748	0.0000596

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.276	135	144	0.935	0.00000670	1740
Missense in Polyphen		33	33.454	0.98644		401
Synonymous	1.86	49	68.6	0.714	0.00000338	663
Loss of Function	0.635	6	7.93	0.757	3.44e-7	83

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000546	0.0000544
Finnish	0.0000924	0.0000924
European (Non-Finnish)	0.0000704	0.0000703
Middle Eastern	0.0000546	0.0000544
South Asian	0.0000980	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulator of osteoclastogenesis which plays an important bone-specific function in osteoclast differentiation. {ECO:0000250}.
• Pathway: Osteoclast differentiation - Homo sapiens (human);Neutrophil degranulation;Innate Immune System;Immune System;Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell;Adaptive Immune System (Consensus)

Haploinsufficiency Scores

• pHI: 0.0863
• hipred: N
• hipred_score: 0.207
• ghis: 0.523

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.119

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Oscar
• Phenotype: cellular phenotype; skeleton phenotype; hematopoietic system phenotype; immune system phenotype

Gene ontology

• Biological process: osteoclast differentiation;collagen-activated signaling pathway;neutrophil degranulation;regulation of immune response
• Cellular component: extracellular region;plasma membrane;integral component of membrane;specific granule lumen;extracellular exosome;tertiary granule lumen
• Molecular function: collagen receptor activity