ORAI3

ORAI calcium release-activated calcium modulator 3, the group of ORAI calcium release-activated calcium modulators

Basic information

Region (hg38): 16:30949068-30956461

Previous symbols: [ "TMEM142C" ]

Links

ENSG00000175938 ∙ NCBI:93129 ∙ OMIM:610930 ∙ HGNC:28185 ∙ Uniprot:Q9BRQ5 ∙ 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 ORAI3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ORAI3 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			16	2		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	2	0

Variants in ORAI3

This is a list of pathogenic ClinVar variants found in the ORAI3 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-30949327-C-T		not specified	Uncertain significance (May 13, 2024)
16-30949348-G-T		not specified	Uncertain significance (Jun 23, 2023)
16-30949371-C-G		not specified	Uncertain significance (Apr 08, 2024)
16-30949380-G-A		not specified	Uncertain significance (Aug 15, 2023)
16-30949384-A-G		not specified	Uncertain significance (Apr 18, 2024)
16-30949402-T-C		not specified	Uncertain significance (Jun 17, 2024)
16-30949476-G-A		not specified	Uncertain significance (Aug 23, 2021)
16-30953215-G-A		not specified	Likely benign (Sep 22, 2022)
16-30953266-G-A		not specified	Uncertain significance (Nov 21, 2022)
16-30953293-C-T		not specified	Uncertain significance (Jan 10, 2022)
16-30953388-C-A		not specified	Uncertain significance (May 03, 2023)
16-30953395-G-A		not specified	Uncertain significance (Jan 16, 2024)
16-30953429-G-T		not specified	Uncertain significance (Oct 30, 2023)
16-30953506-C-G		not specified	Uncertain significance (Sep 26, 2023)
16-30953510-C-T		not specified	Uncertain significance (Jun 28, 2023)
16-30953531-G-A		not specified	Likely benign (Feb 26, 2024)
16-30953566-C-T		not specified	Uncertain significance (Dec 07, 2021)
16-30953583-T-A		not specified	Uncertain significance (Mar 11, 2022)
16-30953612-C-T		not specified	Uncertain significance (Aug 12, 2021)
16-30953630-C-G		not specified	Uncertain significance (Aug 02, 2021)
16-30953641-C-T		not specified	Uncertain significance (Jan 30, 2024)
16-30953719-G-A		not specified	Uncertain significance (Sep 01, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ORAI3	protein_coding	protein_coding	ENST00000318663	2	7396

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0345	0.837	125704	0	44	125748	0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0744	160	163	0.984	0.00000875	1856
Missense in Polyphen		74	81.944	0.90306		983
Synonymous	-0.370	77	73.0	1.06	0.00000404	673
Loss of Function	1.20	3	6.25	0.480	2.69e-7	72

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00178	0.00178
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000102	0.0000967
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Key regulator or component of store-operated Ca(2+) channel and transcription factor NFAT nuclear import. {ECO:0000250}.
• Pathway: Calcium signaling pathway - Homo sapiens (human) (Consensus)

Recessive Scores

• pRec: 0.0977

Intolerance Scores

• rvis_EVS: -0.34
• rvis_percentile_EVS: 30.07

Haploinsufficiency Scores

• pHI: 0.169
• hipred: N
• hipred_score: 0.231
• ghis: 0.577

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.495

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Orai3

Gene ontology

• Biological process: store-operated calcium entry;calcium ion transmembrane transport
• Cellular component: membrane;integral component of membrane
• Molecular function: protein binding;store-operated calcium channel activity