EXOC8
Basic information
Region (hg38): 1:231332753-231337852
Links
Phenotypes
GenCC
Source:
- 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
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 | 17 | ||||
missense | 35 | 39 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 2 | |||||
inframe indel | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 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) | |||
1-231335660-C-T | not specified | Uncertain significance (Feb 21, 2024) | ||
1-231335700-A-G | Likely benign (Feb 10, 2022) | |||
1-231335710-G-A | not specified | Uncertain significance (Jun 30, 2022) | ||
1-231335731-G-C | Benign (Dec 11, 2023) | |||
1-231335753-C-G | not specified | Uncertain significance (Jan 16, 2024) | ||
1-231335880-T-C | Likely benign (May 01, 2022) | |||
1-231335924-C-T | Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy | Uncertain significance (Jan 05, 2022) | ||
1-231335927-C-G | Uncertain significance (Jul 26, 2022) | |||
1-231335929-CCT-C | Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy | Likely pathogenic (May 22, 2024) | ||
1-231335950-CT-C | Uncertain significance (Jun 29, 2022) | |||
1-231336112-G-A | Uncertain significance (Oct 24, 2022) | |||
1-231336142-A-G | not specified | Uncertain significance (Mar 24, 2023) | ||
1-231336162-A-G | Benign (Dec 01, 2023) | |||
1-231336214-C-T | not specified | Uncertain significance (Oct 02, 2023) | ||
1-231336217-T-C | not specified | Uncertain significance (Mar 07, 2023) | ||
1-231336333-T-G | Likely benign (Nov 01, 2022) | |||
1-231336382-T-C | not specified | Uncertain significance (Aug 17, 2022) | ||
1-231336394-G-A | not specified | Uncertain significance (Apr 06, 2022) | ||
1-231336483-C-T | Likely benign (Mar 18, 2023) | |||
1-231336488-G-A | not specified | Uncertain significance (Dec 28, 2022) | ||
1-231336499-G-A | not specified | Uncertain significance (May 30, 2024) | ||
1-231336547-G-A | not specified | Uncertain significance (Jul 06, 2021) | ||
1-231336605-C-T | not specified | Uncertain significance (Dec 21, 2023) | ||
1-231336643-T-C | Uncertain significance (Jul 12, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
EXOC8 | protein_coding | protein_coding | ENST00000360394 | 1 | 5119 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.999 | 0.000976 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.04 | 294 | 410 | 0.716 | 0.0000206 | 4730 |
Missense in Polyphen | 54 | 116.93 | 0.4618 | 1309 | ||
Synonymous | -0.0547 | 171 | 170 | 1.01 | 0.00000881 | 1473 |
Loss of Function | 4.40 | 1 | 24.5 | 0.0408 | 0.00000141 | 259 |
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 | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- 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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
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