EXOC8

exocyst complex component 8, the group of Exocyst complex|Pleckstrin homology domain containing

Basic information

Region (hg38): 1:231332753-231337852

Links

ENSG00000116903NCBI:149371OMIM:615283HGNC:24659Uniprot:Q8IYI6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (Limited), mode of inheritance: AR
  • neurodevelopmental disorder with microcephaly, seizures, and brain atrophy (Strong), mode of inheritance: AR

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EXOC8 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EXOC8 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
13
clinvar
4
clinvar
17
missense
35
clinvar
2
clinvar
2
clinvar
39
nonsense
0
start loss
0
frameshift
2
clinvar
2
inframe indel
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
1
clinvar
1
Total 0 0 37 15 8

Variants in EXOC8

This is a list of pathogenic ClinVar variants found in the EXOC8 region.

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

Position Type Phenotype Significance ClinVar
1-231335522-AT-A Benign (Jun 18, 2021)1257331
1-231335660-C-T not specified Uncertain significance (Feb 21, 2024)3091168
1-231335700-A-G Likely benign (Feb 10, 2022)1654974
1-231335710-G-A not specified Uncertain significance (Jun 30, 2022)2299485
1-231335731-G-C Benign (Dec 11, 2023)767762
1-231335753-C-G not specified Uncertain significance (Jan 16, 2024)3091167
1-231335880-T-C Likely benign (May 01, 2022)2640077
1-231335924-C-T Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy Uncertain significance (Jan 05, 2022)2441308
1-231335927-C-G Uncertain significance (Jul 26, 2022)1361829
1-231335929-CCT-C Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy Likely pathogenic (May 22, 2024)983549
1-231335950-CT-C Uncertain significance (Jun 29, 2022)1810031
1-231336112-G-A Uncertain significance (Oct 24, 2022)2029098
1-231336142-A-G not specified Uncertain significance (Mar 24, 2023)2529597
1-231336162-A-G Benign (Dec 01, 2023)2065676
1-231336214-C-T not specified Uncertain significance (Oct 02, 2023)3091166
1-231336217-T-C not specified Uncertain significance (Mar 07, 2023)2464778
1-231336333-T-G Likely benign (Nov 01, 2022)2906059
1-231336382-T-C not specified Uncertain significance (Aug 17, 2022)2219010
1-231336394-G-A not specified Uncertain significance (Apr 06, 2022)2351914
1-231336483-C-T Likely benign (Mar 18, 2023)2955212
1-231336488-G-A not specified Uncertain significance (Dec 28, 2022)2339808
1-231336499-G-A not specified Uncertain significance (May 30, 2024)3276817
1-231336547-G-A not specified Uncertain significance (Jul 06, 2021)2235058
1-231336605-C-T not specified Uncertain significance (Dec 21, 2023)3091165
1-231336643-T-C Uncertain significance (Jul 12, 2022)1401390

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
EXOC8protein_codingprotein_codingENST00000360394 15119
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.9990.00097600000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.042944100.7160.00002064730
Missense in Polyphen54116.930.46181309
Synonymous-0.05471711701.010.000008811473
Loss of Function4.40124.50.04080.00000141259

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
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
RalA downstream regulated genes;VxPx cargo-targeting to cilium;Cargo trafficking to the periciliary membrane;Cilium Assembly;Organelle biogenesis and maintenance (Consensus)

Recessive Scores

pRec
0.116

Intolerance Scores

loftool
0.117
rvis_EVS
-0.49
rvis_percentile_EVS
22.65

Haploinsufficiency Scores

pHI
0.320
hipred
Y
hipred_score
0.728
ghis
0.461

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
gene_indispensability_pred
E
gene_indispensability_score
0.946

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Exoc8
Phenotype
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); embryo phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); growth/size/body region phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process
exocyst assembly;endosome organization;protein transport;regulation of macroautophagy;extracellular matrix disassembly;exocyst localization
Cellular component
exocyst;late endosome;cytosol;plasma membrane;membrane;growth cone;cell leading edge;perinuclear region of cytoplasm
Molecular function
protein binding;Ral GTPase binding