SRP14
Basic information
Region (hg38): 15:40035690-40039181
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 SRP14 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 | 1 | |||||
missense | 7 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 6 | 1 | 2 |
Variants in SRP14
This is a list of pathogenic ClinVar variants found in the SRP14 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
15-40036361-G-A | not specified | Uncertain significance (Dec 28, 2022) | ||
15-40036362-CTGCTGTTGTTGG-C | Likely benign (Mar 01, 2023) | |||
15-40036371-T-G | not specified | Uncertain significance (Apr 23, 2024) | ||
15-40036374-G-C | not specified | Benign (Mar 28, 2016) | ||
15-40036380-T-C | not specified | Uncertain significance (Jul 14, 2021) | ||
15-40036412-G-A | not specified | Uncertain significance (Mar 28, 2023) | ||
15-40036464-G-A | not specified | Benign (Mar 28, 2016) | ||
15-40038346-A-C | not specified | Uncertain significance (Jun 10, 2022) | ||
15-40038919-C-G | not specified | Uncertain significance (Mar 16, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SRP14 | protein_coding | protein_coding | ENST00000267884 | 5 | 3450 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.875 | 0.124 | 124768 | 0 | 1 | 124769 | 0.00000401 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.843 | 52 | 72.2 | 0.721 | 0.00000319 | 870 |
Missense in Polyphen | 9 | 17.16 | 0.52447 | 240 | ||
Synonymous | -1.40 | 37 | 27.6 | 1.34 | 0.00000131 | 270 |
Loss of Function | 2.41 | 0 | 6.78 | 0.00 | 2.87e-7 | 92 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00 | 0.00 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000327 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Signal-recognition-particle assembly has a crucial role in targeting secretory proteins to the rough endoplasmic reticulum membrane. SRP9 together with SRP14 and the Alu portion of the SRP RNA, constitutes the elongation arrest domain of SRP. The complex of SRP9 and SRP14 is required for SRP RNA binding.;
- Pathway
- Protein export - Homo sapiens (human);Neutrophil degranulation;SRP-dependent cotranslational protein targeting to membrane;Translation;Metabolism of proteins;Innate Immune System;Immune System
(Consensus)
Recessive Scores
- pRec
- 0.133
Intolerance Scores
- loftool
- 0.432
- rvis_EVS
- 0.15
- rvis_percentile_EVS
- 64.11
Haploinsufficiency Scores
- pHI
- 0.184
- hipred
- Y
- hipred_score
- 0.769
- ghis
- 0.428
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.589
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Srp14
- Phenotype
Gene ontology
- Biological process
- cotranslational protein targeting to membrane;SRP-dependent cotranslational protein targeting to membrane;response to drug;neutrophil degranulation;protein targeting to ER
- Cellular component
- extracellular region;nucleus;cytoplasm;signal recognition particle, endoplasmic reticulum targeting;cytosol;secretory granule lumen;ficolin-1-rich granule lumen
- Molecular function
- RNA binding;protein binding;7S RNA binding;endoplasmic reticulum signal peptide binding