SRP68

signal recognition particle 68, the group of Signal recognition particle

Basic information

Region (hg38): 17:76038775-76072517

Links

ENSG00000167881

∙ NCBI:6730 ∙ OMIM:604858 ∙ HGNC:11302 ∙ Uniprot:Q9UHB9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

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

Clinical Genomic Database

Source: CGD

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 ClinVar and linked to the SRP68 gene.

not_specified (66 variants)
not_provided (1 variants)
Neutropenia,_severe_congenital,_10,_autosomal_recessive (1 variants)

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. These statistics are base on transcript: NM_000014230.4. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				2 clinvar		2
missense			64 clinvar	1 clinvar		65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)	1 clinvar					1
Total	1	0	64	3	0

Loading clinvar variants...

GnomAD

Source: gnomAD

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: 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

	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