EXOC5

exocyst complex component 5, the group of Exocyst complex

Basic information

Region (hg38): 14:57200506-57268905

Previous symbols: [ "SEC10L1" ]

Links

ENSG00000070367 ∙ NCBI:10640 ∙ OMIM:604469 ∙ HGNC:10696 ∙ Uniprot:O00471 ∙ 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 EXOC5 gene.

• Inborn genetic diseases (17 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EXOC5 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			17			17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	0	0

Variants in EXOC5

This is a list of pathogenic ClinVar variants found in the EXOC5 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-57208667-G-A		not specified	Uncertain significance (May 09, 2023)
14-57208758-G-C		not specified	Uncertain significance (Jan 10, 2023)
14-57208791-T-C		not specified	Uncertain significance (Sep 13, 2023)
14-57209661-T-C		not specified	Uncertain significance (Mar 16, 2022)
14-57209665-T-C		not specified	Uncertain significance (Apr 12, 2022)
14-57209770-C-T		not specified	Uncertain significance (Oct 03, 2023)
14-57209775-A-C		not specified	Uncertain significance (Nov 21, 2022)
14-57210005-T-C		not specified	Uncertain significance (Oct 26, 2021)
14-57219374-T-C		not specified	Uncertain significance (Aug 10, 2021)
14-57222388-T-C		not specified	Uncertain significance (Jan 17, 2023)
14-57229820-C-T		not specified	Uncertain significance (May 18, 2022)
14-57229823-T-C		not specified	Uncertain significance (Dec 14, 2023)
14-57231518-A-G		not specified	Uncertain significance (Oct 26, 2022)
14-57232709-T-A		not specified	Uncertain significance (Dec 28, 2022)
14-57232710-C-T		not specified	Uncertain significance (Feb 10, 2022)
14-57233861-A-G		not specified	Uncertain significance (Aug 17, 2022)
14-57233862-T-C		not specified	Uncertain significance (Dec 19, 2022)
14-57233864-T-G		not specified	Uncertain significance (Nov 18, 2022)
14-57235745-A-C		not specified	Uncertain significance (May 27, 2022)
14-57244176-T-C		not specified	Uncertain significance (Jan 09, 2024)
14-57244226-T-G		not specified	Uncertain significance (Oct 03, 2023)
14-57247633-G-A		not specified	Uncertain significance (Nov 21, 2023)
14-57247682-G-A		not specified	Uncertain significance (Dec 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EXOC5	protein_coding	protein_coding	ENST00000413566	18	65209

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000859	124395	0	3	124398	0.0000121

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.34	217	338	0.641	0.0000161	4701
Missense in Polyphen		58	100.85	0.57511		1427
Synonymous	0.421	107	113	0.950	0.00000544	1209
Loss of Function	5.20	2	35.4	0.0565	0.00000156	512

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000650	0.0000646
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000180	0.0000178
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Component of the exocyst complex involved in the docking of exocytic vesicles with fusion sites on the plasma membrane.
• Pathway: Arf6 trafficking events;VxPx cargo-targeting to cilium;Insulin Pathway;Cargo trafficking to the periciliary membrane;Cilium Assembly;Organelle biogenesis and maintenance (Consensus)

Recessive Scores

• pRec: 0.117

Intolerance Scores

• rvis_EVS: 0.22
• rvis_percentile_EVS: 68.13

Haploinsufficiency Scores

• pHI: 0.787
• hipred: Y
• hipred_score: 0.783
• ghis: 0.583

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.821

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Exoc5
• Phenotype: cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); renal/urinary system phenotype

Zebrafish Information Network

• Gene name: exoc5
• Affected structure: retinal rod cell
• Phenotype tag: abnormal
• Phenotype quality: decreased length

Gene ontology

• Biological process: establishment of planar polarity;exocytosis;post-Golgi vesicle-mediated transport;Golgi to plasma membrane transport;protein transport;vesicle docking;homeostasis of number of cells within a tissue;protein localization to plasma membrane;epithelial cell apoptotic process;non-motile cilium assembly
• Cellular component: exocyst;cytoplasm;cytosol;midbody
• Molecular function: protein binding;Ral GTPase binding;protein N-terminus binding