EXOC5

exocyst complex component 5, the group of Exocyst complex

Basic information

Region (hg38): 14:57200507-57268905

Previous symbols: [ "SEC10L1" ]

Links

ENSG00000070367NCBI:10640OMIM:604469HGNC:10696Uniprot:O00471AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EXOC5 gene.

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
23
clinvar
23
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 23 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)2568738
14-57208758-G-C not specified Uncertain significance (Jan 10, 2023)2468660
14-57208791-T-C not specified Uncertain significance (Sep 13, 2023)2595446
14-57209596-C-T not specified Uncertain significance (May 14, 2024)3276800
14-57209661-T-C not specified Uncertain significance (Mar 16, 2022)2392741
14-57209665-T-C not specified Uncertain significance (Apr 12, 2022)2206486
14-57209749-G-C not specified Uncertain significance (May 30, 2024)3276799
14-57209770-C-T not specified Uncertain significance (Oct 03, 2023)3091129
14-57209775-A-C not specified Uncertain significance (Nov 21, 2022)2328664
14-57210005-T-C not specified Uncertain significance (Oct 26, 2021)2257258
14-57219374-T-C not specified Uncertain significance (Aug 10, 2021)2337256
14-57222388-T-C not specified Uncertain significance (Jan 17, 2023)2476141
14-57229820-C-T not specified Uncertain significance (May 18, 2022)2325034
14-57229823-T-C not specified Uncertain significance (Dec 14, 2023)3091128
14-57231518-A-G not specified Uncertain significance (Oct 26, 2022)2320861
14-57231714-T-C not specified Uncertain significance (Apr 01, 2024)3276801
14-57232709-T-A not specified Uncertain significance (Dec 28, 2022)2339948
14-57232710-C-T not specified Uncertain significance (Feb 10, 2022)2374368
14-57233861-A-G not specified Uncertain significance (Aug 17, 2022)2385029
14-57233862-T-C not specified Uncertain significance (Dec 19, 2022)2349295
14-57233864-T-G not specified Uncertain significance (Nov 18, 2022)2217912
14-57235745-A-C not specified Uncertain significance (May 27, 2022)2291877
14-57239657-T-C not specified Uncertain significance (May 08, 2024)3276802
14-57244176-T-C not specified Uncertain significance (Jan 09, 2024)3091131
14-57244226-T-G not specified Uncertain significance (Oct 03, 2023)3091130

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
EXOC5protein_codingprotein_codingENST00000413566 1865209
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
1.000.0000859124395031243980.0000121
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.342173380.6410.00001614701
Missense in Polyphen58100.850.575111427
Synonymous0.4211071130.9500.000005441209
Loss of Function5.20235.40.05650.00000156512

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00006500.0000646
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.00001800.0000178
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

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

loftool
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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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