OCM2

oncomodulin 2, the group of EF-hand domain containing

Basic information

Region (hg38): 7:97984686-97991169

Links

ENSG00000135175 ∙ NCBI:4951 ∙ ∙ HGNC:34396 ∙ Uniprot:P0CE71 ∙ 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 OCM2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the OCM2 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			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	0	0

Variants in OCM2

This is a list of pathogenic ClinVar variants found in the OCM2 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-97987082-G-A		not specified	Uncertain significance (Jan 29, 2024)
7-97987085-G-A		not specified	Uncertain significance (Feb 11, 2022)
7-97987149-G-A		not specified	Uncertain significance (Aug 16, 2022)
7-97988441-C-A		not specified	Uncertain significance (Jun 29, 2023)
7-97988450-C-T		not specified	Uncertain significance (Sep 27, 2022)
7-97988464-C-T		not specified	Uncertain significance (Jul 25, 2023)
7-97988465-G-A		not specified	Uncertain significance (Jul 06, 2021)
7-97988473-T-A		not specified	Uncertain significance (Jul 09, 2021)
7-97990061-G-A		not specified	Uncertain significance (Dec 16, 2023)
7-97990088-A-C		not specified	Uncertain significance (Mar 29, 2022)
7-97990089-C-T		not specified	Uncertain significance (Feb 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
OCM2	protein_coding	protein_coding	ENST00000257627	4	6486

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0246	0.792	125670	0	75	125745	0.000298

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0279	64	64.6	0.990	0.00000367	733
Missense in Polyphen		20	22.526	0.88787		254
Synonymous	0.633	23	27.2	0.845	0.00000198	187
Loss of Function	0.986	3	5.50	0.546	2.32e-7	67

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00430	0.00431
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.118

Intolerance Scores

• loftool: 0.666
• rvis_EVS: 0.41
• rvis_percentile_EVS: 76.67

Haploinsufficiency Scores

• pHI: 0.151
• hipred: N
• hipred_score: 0.139

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ocm
• Phenotype: hearing/vestibular/ear phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: regulation of cytosolic calcium ion concentration
• Cellular component: nucleus;cytoplasm
• Molecular function: calcium ion binding