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

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 17.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_133169.6	NP_573399.2	5	yes	-
ENST00000358375.9	ENSP00000351145.4	5	yes	-
NM_130771.6	NP_570127.3	6	-	-
NM_133168.6	NP_573398.2	4	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the OSCAR gene.

• not_specified (62 variants)

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. These statistics are base on transcript: NM_133169.6. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			49	3		52
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	50	3	0

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
		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)

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

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