SRP14

signal recognition particle 14, the group of Signal recognition particle

Basic information

Region (hg38): 15:40035690-40039181

Links

ENSG00000140319 ∙ NCBI:6727 ∙ OMIM:600708 ∙ HGNC:11299 ∙ Uniprot:P37108 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SRP14 gene.

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	1
missense			6		1	7
nonsense						0
start loss						0
frameshift						0
inframe indel				1		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: gnomAD

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: dbNSFP

• 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

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