SRP68
Basic information
Region (hg38): 17:76038775-76072517
Links
Phenotypes
GenCC
Source:
- neutropenia, severe congenital, 10, autosomal recessive (Limited), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Neutropenia, severe congenital, 10, autosomal recessive | AR | Allergy/Immunology/Infectious | Individuals have been described with recurrent infections, and awareness may allow prompt management (eg, with GCSF) and prophylactic measures | Allergy/Immunology/Infectious; Hematologic | 32273475 |
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 SRP68 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 | 34 | 34 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 34 | 0 | 0 |
Variants in SRP68
This is a list of pathogenic ClinVar variants found in the SRP68 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-76039741-C-T | not specified | Uncertain significance (Jan 19, 2024) | ||
17-76039824-A-G | not specified | Uncertain significance (Nov 12, 2021) | ||
17-76039919-C-T | Likely benign (Dec 01, 2024) | |||
17-76039921-G-A | not specified | Uncertain significance (Dec 16, 2023) | ||
17-76040460-G-A | not specified | Uncertain significance (Dec 20, 2021) | ||
17-76040939-A-C | not specified | Uncertain significance (Sep 11, 2024) | ||
17-76043844-G-C | not specified | Uncertain significance (Dec 06, 2024) | ||
17-76043849-C-T | not specified | Uncertain significance (Dec 03, 2024) | ||
17-76043872-T-A | not specified | Uncertain significance (Oct 12, 2021) | ||
17-76043906-G-C | not specified | Uncertain significance (Nov 25, 2024) | ||
17-76043941-T-C | not specified | Uncertain significance (Jul 10, 2024) | ||
17-76046075-G-A | not specified | Uncertain significance (Jan 10, 2022) | ||
17-76046156-C-T | not specified | Uncertain significance (Sep 11, 2024) | ||
17-76047955-T-C | not specified | Uncertain significance (Dec 18, 2023) | ||
17-76057420-C-T | not specified | Uncertain significance (Jul 06, 2021) | ||
17-76057461-A-G | not specified | Uncertain significance (May 16, 2022) | ||
17-76057483-C-G | not specified | Uncertain significance (Aug 17, 2021) | ||
17-76057510-C-T | not specified | Uncertain significance (Mar 30, 2024) | ||
17-76057534-T-A | not specified | Uncertain significance (Sep 20, 2024) | ||
17-76060331-C-A | not specified | Uncertain significance (Oct 08, 2024) | ||
17-76061158-G-A | not specified | Uncertain significance (Aug 20, 2024) | ||
17-76061530-T-G | not specified | Uncertain significance (Feb 28, 2023) | ||
17-76061543-C-T | not specified | Uncertain significance (Sep 20, 2024) | ||
17-76064026-G-T | not specified | Uncertain significance (Jul 10, 2024) | ||
17-76064098-T-C | not specified | Uncertain significance (Jun 11, 2024) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
SRP68 | protein_coding | protein_coding | ENST00000307877 | 16 | 33551 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0457 | 0.954 | 125733 | 0 | 15 | 125748 | 0.0000596 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.03 | 255 | 364 | 0.701 | 0.0000205 | 4084 |
Missense in Polyphen | 84 | 136.46 | 0.61558 | 1448 | ||
Synonymous | 0.770 | 125 | 136 | 0.916 | 0.00000724 | 1197 |
Loss of Function | 4.16 | 10 | 37.5 | 0.267 | 0.00000189 | 445 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000291 | 0.0000291 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000109 | 0.0000544 |
Finnish | 0.0000937 | 0.0000924 |
European (Non-Finnish) | 0.0000881 | 0.0000879 |
Middle Eastern | 0.000109 | 0.0000544 |
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. SRP68 binds the 7S RNA, SRP72 binds to this complex subsequently. This ribonucleoprotein complex might interact directly with the docking protein in the ER membrane and possibly participate in the elongation arrest function.;
- Pathway
- Protein export - Homo sapiens (human);SRP-dependent cotranslational protein targeting to membrane;Translation;Metabolism of proteins
(Consensus)
Recessive Scores
- pRec
- 0.121
Intolerance Scores
- loftool
- 0.142
- rvis_EVS
- 0.51
- rvis_percentile_EVS
- 80.2
Haploinsufficiency Scores
- pHI
- 0.506
- hipred
- Y
- hipred_score
- 0.696
- ghis
- 0.495
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.536
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Srp68
- Phenotype
Zebrafish Information Network
- Gene name
- srp68
- Affected structure
- cartilage element
- Phenotype tag
- abnormal
- Phenotype quality
- morphology
Gene ontology
- Biological process
- SRP-dependent cotranslational protein targeting to membrane;response to drug
- Cellular component
- nucleolus;endoplasmic reticulum;signal recognition particle, endoplasmic reticulum targeting;cytosol;ribosome;focal adhesion;signal recognition particle
- Molecular function
- RNA binding;signal recognition particle binding;protein binding;7S RNA binding;protein domain specific binding;endoplasmic reticulum signal peptide binding;ribosome binding