GOSR1

golgi SNAP receptor complex member 1, the group of SNAREs

Basic information

Region (hg38): 17:30477362-30527592

Links

ENSG00000108587 ∙ NCBI:9527 ∙ OMIM:604026 ∙ HGNC:4430 ∙ Uniprot:O95249 ∙ 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 GOSR1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GOSR1 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			16			16
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			2			2
Total	0	0	19	0	0

Variants in GOSR1

This is a list of pathogenic ClinVar variants found in the GOSR1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-30477446-A-G		not specified	Uncertain significance (Oct 17, 2023)
17-30477449-A-T		not specified	Uncertain significance (Aug 04, 2024)
17-30481181-G-A		not specified	Uncertain significance (Oct 25, 2022)
17-30484216-C-A		not specified	Uncertain significance (Feb 13, 2024)
17-30484259-G-C		not specified	Uncertain significance (Nov 08, 2022)
17-30484697-C-T		not specified	Uncertain significance (May 05, 2023)
17-30490193-T-C		not specified	Uncertain significance (Sep 03, 2024)
17-30490205-G-A		not specified	Uncertain significance (Dec 02, 2024)
17-30490210-G-A		not specified	Uncertain significance (May 24, 2023)
17-30490215-T-G		not specified	Uncertain significance (Nov 20, 2023)
17-30492750-G-A		not specified	Uncertain significance (Dec 17, 2021)
17-30519994-A-G		not specified	Uncertain significance (Apr 25, 2022)
17-30522254-A-T		not specified	Uncertain significance (Sep 06, 2022)
17-30522287-G-T		not specified	Uncertain significance (Oct 06, 2022)
17-30522304-C-T		not specified	Uncertain significance (Jan 08, 2025)
17-30522305-G-A		not specified	Uncertain significance (Mar 01, 2025)
17-30522307-C-T		not specified	Uncertain significance (Sep 08, 2024)
17-30522308-G-A		not specified	Uncertain significance (Oct 29, 2021)
17-30522329-G-C		not specified	Uncertain significance (Aug 02, 2021)
17-30522350-T-C		not specified	Uncertain significance (Sep 02, 2024)
17-30522365-A-G		not specified	Uncertain significance (May 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GOSR1	protein_coding	protein_coding	ENST00000225724	9	50231

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0628	0.934	125734	0	14	125748	0.0000557

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.519	126	143	0.878	0.00000783	1646
Missense in Polyphen		24	37.255	0.64421		426
Synonymous	0.924	41	49.2	0.833	0.00000245	464
Loss of Function	2.61	5	16.4	0.305	0.00000101	180

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000122	0.000122
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000185	0.000185
European (Non-Finnish)	0.0000176	0.0000176
Middle Eastern	0.00	0.00
South Asian	0.000135	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Involved in transport from the ER to the Golgi apparatus as well as in intra-Golgi transport. It belongs to a super-family of proteins called t-SNAREs or soluble NSF (N-ethylmaleimide- sensitive factor) attachment protein receptor. May play a protective role against hydrogen peroxide induced cytotoxicity under glutathione depleted conditions in neuronal cells by regulating the intracellular ROS levels via inhibition of p38 MAPK (MAPK11, MAPK12, MAPK13 and MAPK14). Participates in docking and fusion stage of ER to cis-Golgi transport. Plays an important physiological role in VLDL-transport vesicle-Golgi fusion and thus in VLDL delivery to the hepatic cis-Golgi. {ECO:0000269|PubMed:15215310, ECO:0000269|PubMed:21860593}.
• Pathway: SNARE interactions in vesicular transport - Homo sapiens (human);Vesicle-mediated transport;Membrane Trafficking;Post-translational protein modification;Metabolism of proteins;Transport to the Golgi and subsequent modification;Asparagine N-linked glycosylation;Intra-Golgi traffic;COPI-mediated anterograde transport;ER to Golgi Anterograde Transport;Intra-Golgi and retrograde Golgi-to-ER traffic (Consensus)

Recessive Scores

• pRec: 0.149

Intolerance Scores

• loftool: 0.309
• rvis_EVS: -0.03
• rvis_percentile_EVS: 51.4

Haploinsufficiency Scores

• pHI: 0.547
• hipred: Y
• hipred_score: 0.640
• ghis: 0.681

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: K
• gene_indispensability_pred: E
• gene_indispensability_score: 0.807

Mouse Genome Informatics

• Gene name: Gosr1

Gene ontology

• Biological process: endoplasmic reticulum to Golgi vesicle-mediated transport;intra-Golgi vesicle-mediated transport;vesicle fusion;protein transport;retrograde transport, endosome to Golgi;regulation of vesicle targeting, to, from or within Golgi
• Cellular component: Golgi membrane;Golgi apparatus;Golgi medial cisterna;cis-Golgi network;cytosol;membrane;integral component of membrane;transport vesicle;SNARE complex
• Molecular function: SNAP receptor activity