OCSTAMP

osteoclast stimulatory transmembrane protein

Basic information

Region (hg38): 20:46540945-46550654

Previous symbols: [ "C20orf123" ]

Links

ENSG00000149635 ∙ NCBI:128506 ∙ ∙ HGNC:16116 ∙ Uniprot:Q9BR26 ∙ 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 OCSTAMP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OCSTAMP 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			41	2		43
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	41	2	0

Variants in OCSTAMP

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

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

Position	Type	Phenotype	Significance	ClinVar
20-46541373-A-T		not specified	Uncertain significance (Dec 03, 2021)
20-46541506-C-T		not specified	Uncertain significance (Jul 26, 2022)
20-46541528-C-T		not specified	Uncertain significance (Oct 03, 2022)
20-46541539-G-A		not specified	Uncertain significance (Oct 25, 2023)
20-46541552-C-A		not specified	Uncertain significance (Dec 20, 2023)
20-46541605-T-C		not specified	Likely benign (Apr 09, 2024)
20-46541689-A-G		not specified	Uncertain significance (Jan 10, 2023)
20-46541698-C-G		not specified	Uncertain significance (Oct 26, 2021)
20-46541771-G-A		not specified	Uncertain significance (Feb 16, 2023)
20-46541791-C-A		not specified	Uncertain significance (Dec 14, 2022)
20-46541807-G-A		not specified	Uncertain significance (Nov 28, 2023)
20-46541828-G-A		not specified	Uncertain significance (Nov 12, 2021)
20-46541869-C-T		not specified	Uncertain significance (Jun 07, 2024)
20-46541881-A-G		not specified	Likely benign (Sep 20, 2023)
20-46545407-C-G		not specified	Uncertain significance (Sep 14, 2023)
20-46545409-A-C		not specified	Uncertain significance (Feb 21, 2024)
20-46545419-T-C		not specified	Uncertain significance (Dec 09, 2023)
20-46545436-G-A		not specified	Uncertain significance (Mar 19, 2024)
20-46545436-G-T		not specified	Uncertain significance (Oct 26, 2021)
20-46545440-C-T		not specified	Uncertain significance (May 30, 2024)
20-46545443-C-T		not specified	Uncertain significance (Jan 17, 2024)
20-46545526-A-T		not specified	Uncertain significance (Aug 30, 2022)
20-46545533-T-C		not specified	Likely benign (Aug 30, 2022)
20-46545535-G-T		not specified	Uncertain significance (Jun 11, 2021)
20-46545571-G-A		not specified	Uncertain significance (Oct 10, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OCSTAMP	protein_coding	protein_coding	ENST00000279028	3	9629

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00128	0.867	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.73	224	310	0.723	0.0000188	3541
Missense in Polyphen		56	82.623	0.67778		1099
Synonymous	1.33	124	144	0.859	0.00000884	1324
Loss of Function	1.31	6	10.6	0.567	5.39e-7	105

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

• Function: FUNCTION: Probable cell surface receptor that plays a role in cellular fusion and cell differentiation. Cooperates with DCSTAMP in modulating cell-cell fusion in both osteoclasts and foreign body giant cells (FBGCs). Involved in osteoclast bone resorption. Promotes osteoclast differentiation and may play a role in the multinucleated osteoclast maturation (By similarity). {ECO:0000250}.

Intolerance Scores

• rvis_EVS: 0.24
• rvis_percentile_EVS: 68.98

Haploinsufficiency Scores

• pHI: 0.0496

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: 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: Ocstamp
• Phenotype: homeostasis/metabolism phenotype; immune system phenotype; skeleton phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: positive regulation of macrophage fusion;positive regulation of osteoclast differentiation;cellular response to tumor necrosis factor;cellular response to estrogen stimulus;multinuclear osteoclast differentiation;positive regulation of osteoclast proliferation
• Cellular component: integral component of membrane