SSR1
Basic information
Region (hg38): 6:7268306-7347446
Links
Phenotypes
GenCC
Source:
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 SSR1 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 | 7 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 7 | 0 | 0 |
Variants in SSR1
This is a list of pathogenic ClinVar variants found in the SSR1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 6-7297978-G-A | not specified | Uncertain significance (Aug 12, 2021) | ||
| 6-7298771-C-G | not specified | Uncertain significance (Sep 09, 2024) | ||
| 6-7301521-C-T | not specified | Uncertain significance (Aug 15, 2023) | ||
| 6-7303577-T-C | not specified | Uncertain significance (Oct 27, 2021) | ||
| 6-7309937-C-T | not specified | Uncertain significance (Dec 13, 2023) | ||
| 6-7309944-C-A | not specified | Uncertain significance (Nov 13, 2024) | ||
| 6-7313069-T-C | not specified | Uncertain significance (Jan 03, 2022) | ||
| 6-7313084-G-C | not specified | Uncertain significance (Dec 02, 2021) | ||
| 6-7329185-G-A | EBV-positive nodal T- and NK-cell lymphoma | Likely benign (-) | ||
| 6-7329855-C-G | not specified | Uncertain significance (Apr 22, 2022) | ||
| 6-7329865-G-A | not specified | Uncertain significance (Oct 29, 2021) | ||
| 6-7334072-T-G | not specified | Uncertain significance (Sep 16, 2021) | ||
| 6-7334088-A-C | not specified | Uncertain significance (Jul 30, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| SSR1 | protein_coding | protein_coding | ENST00000244763 | 8 | 79141 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.271 | 0.728 | 125733 | 0 | 5 | 125738 | 0.0000199 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.45 | 97 | 146 | 0.663 | 0.00000686 | 1860 |
| Missense in Polyphen | 21 | 47.231 | 0.44462 | 618 | ||
| Synonymous | -0.169 | 54 | 52.4 | 1.03 | 0.00000249 | 547 |
| Loss of Function | 2.86 | 4 | 16.5 | 0.242 | 0.00000100 | 182 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000360 | 0.0000360 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000267 | 0.0000264 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000330 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: TRAP proteins are part of a complex whose function is to bind calcium to the ER membrane and thereby regulate the retention of ER resident proteins. May be involved in the recycling of the translocation apparatus after completion of the translocation process or may function as a membrane-bound chaperone facilitating folding of translocated proteins.;
- Pathway
- Protein processing in endoplasmic reticulum - Homo sapiens (human);XBP1(S) activates chaperone genes;SRP-dependent cotranslational protein targeting to membrane;Translation;Metabolism of proteins
(Consensus)
Recessive Scores
- pRec
- 0.187
Intolerance Scores
- loftool
- 0.644
- rvis_EVS
- 0.17
- rvis_percentile_EVS
- 65.56
Haploinsufficiency Scores
- pHI
- 0.194
- hipred
- Y
- hipred_score
- 0.693
- ghis
- 0.582
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.859
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ssr1
- Phenotype
- cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); homeostasis/metabolism phenotype; growth/size/body region phenotype;
Gene ontology
- Biological process
- cotranslational protein targeting to membrane;positive regulation of cell population proliferation;IRE1-mediated unfolded protein response
- Cellular component
- endoplasmic reticulum;endoplasmic reticulum membrane;integral component of membrane
- Molecular function
- protein binding