SSTR1
somatostatin receptor 1, the group of Somatostatin receptors
Basic information
Region (hg38): 14:38207903-38213067
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the SSTR1 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 | 2 | |||||
| missense | 12 | 12 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 12 | 1 | 1 |
Variants in SSTR1
This is a list of pathogenic ClinVar variants found in the SSTR1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 14-38209445-G-A | not specified | Uncertain significance (May 02, 2024) | ||
| 14-38209459-G-C | not specified | Uncertain significance (May 13, 2024) | ||
| 14-38209487-G-C | not specified | Uncertain significance (Feb 15, 2023) | ||
| 14-38209632-C-T | Likely benign (Jan 19, 2018) | |||
| 14-38209633-G-T | not specified | Uncertain significance (Feb 21, 2024) | ||
| 14-38209642-C-T | not specified | Uncertain significance (May 15, 2024) | ||
| 14-38209645-T-C | not specified | Uncertain significance (Dec 26, 2023) | ||
| 14-38209797-G-A | Benign (Jan 19, 2018) | |||
| 14-38209841-T-C | not specified | Uncertain significance (Sep 26, 2023) | ||
| 14-38209846-G-T | not specified | Uncertain significance (Sep 14, 2022) | ||
| 14-38209880-A-G | not specified | Uncertain significance (May 07, 2024) | ||
| 14-38209957-C-A | not specified | Uncertain significance (Mar 18, 2024) | ||
| 14-38210077-A-G | not specified | Uncertain significance (Feb 23, 2023) | ||
| 14-38210078-T-G | not specified | Uncertain significance (Mar 07, 2023) | ||
| 14-38210152-C-G | not specified | Uncertain significance (Jun 07, 2024) | ||
| 14-38210279-C-T | not specified | Uncertain significance (Jan 19, 2024) | ||
| 14-38210363-T-G | not specified | Uncertain significance (May 09, 2023) | ||
| 14-38210365-C-G | not specified | Uncertain significance (Oct 27, 2022) | ||
| 14-38210441-T-C | not specified | Uncertain significance (Nov 08, 2022) | ||
| 14-38210507-T-G | not specified | Uncertain significance (Jun 13, 2024) | ||
| 14-38210528-G-C | not specified | Uncertain significance (Sep 14, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| SSTR1 | protein_coding | protein_coding | ENST00000267377 | 1 | 5069 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.747 | 0.251 | 125734 | 0 | 14 | 125748 | 0.0000557 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.20 | 192 | 245 | 0.783 | 0.0000146 | 2535 |
| Missense in Polyphen | 84 | 111.6 | 0.75271 | 1196 | ||
| Synonymous | -0.528 | 111 | 104 | 1.07 | 0.00000635 | 838 |
| Loss of Function | 2.45 | 1 | 8.88 | 0.113 | 3.85e-7 | 96 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000243 | 0.000242 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000218 | 0.000217 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000441 | 0.0000352 |
| Middle Eastern | 0.000218 | 0.000217 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Receptor for somatostatin with higher affinity for somatostatin-14 than -28. This receptor is coupled via pertussis toxin sensitive G proteins to inhibition of adenylyl cyclase. In addition it stimulates phosphotyrosine phosphatase and Na(+)/H(+) exchanger via pertussis toxin insensitive G proteins.;
- Pathway
- cAMP signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Peptide GPCRs;GPCRs, Class A Rhodopsin-like;Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (i) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.202
Intolerance Scores
- loftool
- 0.363
- rvis_EVS
- -0.07
- rvis_percentile_EVS
- 48.35
Haploinsufficiency Scores
- pHI
- 0.0980
- hipred
- Y
- hipred_score
- 0.641
- ghis
- 0.476
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.894
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Sstr1
- Phenotype
- vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- G protein-coupled receptor signaling pathway;G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger;glutamate receptor signaling pathway;neuropeptide signaling pathway;spermatogenesis;negative regulation of cell population proliferation;cerebellum development;forebrain development;somatostatin signaling pathway;response to starvation;cellular response to estradiol stimulus;cellular response to leukemia inhibitory factor
- Cellular component
- cytoplasm;plasma membrane;integral component of plasma membrane
- Molecular function
- G protein-coupled receptor activity;somatostatin receptor activity;peptide binding;neuropeptide binding