SRP68

signal recognition particle 68, the group of Signal recognition particle

Basic information

Region (hg38): 17:76038775-76072517

Links

ENSG00000167881NCBI:6730OMIM:604858HGNC:11302Uniprot:Q9UHB9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • neutropenia, severe congenital, 10, autosomal recessive (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Neutropenia, severe congenital, 10, autosomal recessiveARAllergy/Immunology/InfectiousIndividuals have been described with recurrent infections, and awareness may allow prompt management (eg, with GCSF) and prophylactic measuresAllergy/Immunology/Infectious; Hematologic32273475

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SRP68 gene.

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
clinvar
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)3170026
17-76039824-A-G not specified Uncertain significance (Nov 12, 2021)2260497
17-76039919-C-T Likely benign (Dec 01, 2024)3770725
17-76039921-G-A not specified Uncertain significance (Dec 16, 2023)3170025
17-76040460-G-A not specified Uncertain significance (Dec 20, 2021)2407204
17-76040939-A-C not specified Uncertain significance (Sep 11, 2024)3449380
17-76043844-G-C not specified Uncertain significance (Dec 06, 2024)3449384
17-76043849-C-T not specified Uncertain significance (Dec 03, 2024)2411341
17-76043872-T-A not specified Uncertain significance (Oct 12, 2021)2254994
17-76043906-G-C not specified Uncertain significance (Nov 25, 2024)3449383
17-76043941-T-C not specified Uncertain significance (Jul 10, 2024)3449378
17-76046075-G-A not specified Uncertain significance (Jan 10, 2022)2223901
17-76046156-C-T not specified Uncertain significance (Sep 11, 2024)3449375
17-76047955-T-C not specified Uncertain significance (Dec 18, 2023)3170021
17-76057420-C-T not specified Uncertain significance (Jul 06, 2021)2235329
17-76057461-A-G not specified Uncertain significance (May 16, 2022)2289958
17-76057483-C-G not specified Uncertain significance (Aug 17, 2021)2246513
17-76057510-C-T not specified Uncertain significance (Mar 30, 2024)3322661
17-76057534-T-A not specified Uncertain significance (Sep 20, 2024)3449381
17-76060331-C-A not specified Uncertain significance (Oct 08, 2024)3449376
17-76061158-G-A not specified Uncertain significance (Aug 20, 2024)3449379
17-76061530-T-G not specified Uncertain significance (Feb 28, 2023)2490166
17-76061543-C-T not specified Uncertain significance (Sep 20, 2024)3449382
17-76064026-G-T not specified Uncertain significance (Jul 10, 2024)3449377
17-76064098-T-C not specified Uncertain significance (Jun 11, 2024)3322662

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
SRP68protein_codingprotein_codingENST00000307877 1633551
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.04570.9541257330151257480.0000596
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.032553640.7010.00002054084
Missense in Polyphen84136.460.615581448
Synonymous0.7701251360.9160.000007241197
Loss of Function4.161037.50.2670.00000189445

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002910.0000291
Ashkenazi Jewish0.000.00
East Asian0.0001090.0000544
Finnish0.00009370.0000924
European (Non-Finnish)0.00008810.0000879
Middle Eastern0.0001090.0000544
South Asian0.00003270.0000327
Other0.000.00

dbNSFP

Source: dbNSFP

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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