SRI

sorcin, the group of EF-hand domain containing

Basic information

Region (hg38): 7:88205115-88226993

Links

ENSG00000075142 ∙ NCBI:6717 ∙ OMIM:182520 ∙ HGNC:11292 ∙ Uniprot:P30626 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• hypertrophic cardiomyopathy (Refuted Evidence), mode of inheritance: AD

ClinVar

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

• Inborn genetic diseases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SRI 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			14			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)	1					1
splice region					1	1
non coding					7	7
Total	1	0	14	0	7

Variants in SRI

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

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

Position	Type	Phenotype	Significance	ClinVar
7-88206370-A-G			Benign (May 15, 2021)
7-88206495-A-G		not specified	Uncertain significance (May 18, 2022)
7-88206698-G-A			Benign (May 15, 2021)
7-88209360-C-T		not specified	Uncertain significance (Jan 15, 2025)
7-88209378-C-G		not specified	Uncertain significance (May 01, 2024)
7-88209410-C-T		not specified	Uncertain significance (Feb 06, 2023)
7-88209429-C-T		not specified	Uncertain significance (Jul 30, 2023)
7-88209986-T-C		not specified	Uncertain significance (Oct 06, 2023)
7-88209998-C-T		not specified	Uncertain significance (Jul 27, 2024)
7-88210033-C-T		not specified	Uncertain significance (May 16, 2024)
7-88210043-C-G		not specified	Uncertain significance (Dec 04, 2024)
7-88210052-T-C		not specified	Uncertain significance (Mar 28, 2024)
7-88210117-C-T		not specified	Uncertain significance (Aug 04, 2024)
7-88210124-T-G		not specified	Uncertain significance (Mar 25, 2024)
7-88210213-A-G			Benign (May 16, 2021)
7-88210375-T-C			Benign (Jun 19, 2021)
7-88210843-G-GA			Benign (May 15, 2021)
7-88210890-T-C		not specified	Uncertain significance (Mar 31, 2024)
7-88210905-G-A		not specified	Uncertain significance (Jun 07, 2024)
7-88210926-C-T		Inborn genetic diseases	Pathogenic (Apr 08, 2014)
7-88210948-T-C			Benign (May 16, 2021)
7-88217190-T-C		not specified	Uncertain significance (Dec 14, 2024)
7-88217196-T-C			Benign (May 06, 2021)
7-88217341-T-G			Benign (May 15, 2021)
7-88219980-C-A		not specified	Uncertain significance (Jan 16, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SRI	protein_coding	protein_coding	ENST00000265729	8	21876

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.48e-10	0.0945	125711	0	37	125748	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0104	110	110	0.997	0.00000568	1286
Missense in Polyphen		37	36.605	1.0108		433
Synonymous	0.652	35	40.3	0.869	0.00000211	375
Loss of Function	0.179	15	15.8	0.951	9.36e-7	155

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000181
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000435	0.000435
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000114	0.000114
Middle Eastern	0.000435	0.000435
South Asian	0.000327	0.000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Calcium-binding protein that modulates excitation- contraction coupling in the heart. Contributes to calcium homeostasis in the heart sarcoplasmic reticulum. Modulates the activity of RYR2 calcium channels. {ECO:0000269|PubMed:17699613}.
• Pathway: Stimuli-sensing channels;Ion channel transport;Ion homeostasis;Sodium/Calcium exchangers;Transport of inorganic cations/anions and amino acids/oligopeptides;SLC-mediated transmembrane transport;Transport of small molecules;Cardiac conduction;Muscle contraction;EGFR1;Ion transport by P-type ATPases;Hemostasis;Reduction of cytosolic Ca++ levels;Platelet calcium homeostasis;Platelet homeostasis (Consensus)

Recessive Scores

• pRec: 0.158

Intolerance Scores

• loftool: 0.644
• rvis_EVS: 0.33
• rvis_percentile_EVS: 73.11

Haploinsufficiency Scores

• pHI: 0.170
• hipred: Y
• hipred_score: 0.622
• ghis: 0.467

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.551

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Sri
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Biological process: action potential;calcium ion transport;intracellular sequestering of iron ion;regulation of striated muscle contraction;signal transduction;heart development;muscle organ development;regulation of heart contraction;negative regulation of heart rate;regulation of cell communication by electrical coupling;regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum;positive regulation of insulin secretion involved in cellular response to glucose stimulus;cytoplasmic sequestering of transcription factor;positive regulation of release of sequestered calcium ion into cytosol;regulation of calcium ion transport;negative regulation of cardiac muscle contraction;negative regulation of ryanodine-sensitive calcium-release channel activity;regulation of cardiac muscle cell contraction;regulation of relaxation of muscle;regulation of high voltage-gated calcium channel activity;regulation of cell communication by electrical coupling involved in cardiac conduction;negative regulation of transcription regulatory region DNA binding
• Cellular component: nucleoplasm;cytoplasm;mitochondrion;endoplasmic reticulum membrane;smooth endoplasmic reticulum;cytosol;membrane;sarcoplasmic reticulum;Z disc;T-tubule;sarcoplasmic reticulum membrane;chromaffin granule membrane;axon terminus;dendritic spine neck;extracellular exosome
• Molecular function: protease binding;signaling receptor binding;calcium channel regulator activity;calcium ion binding;protein binding;ion channel binding;protein heterodimerization activity;repressing transcription factor binding