EXOC8

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

Basic information

Region (hg38): 1:231332753-231337852

Links

ENSG00000116903 ∙ NCBI:149371 ∙ OMIM:615283 ∙ HGNC:24659 ∙ Uniprot:Q8IYI6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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.

• not_specified (56 variants)
• not_provided (35 variants)
• Neurodevelopmental_disorder_with_microcephaly,_seizures,_and_brain_atrophy (5 variants)
• Joubert_syndrome (1 variants)
• EXOC8-related_disorder (1 variants)

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. These statistics are base on transcript: NM_000175876.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				13	4	17
missense			67	2	2	71
nonsense						0
start loss						0
frameshift		2	1			3
splice donor/acceptor (+/-2bp)						0
Total	0	2	68	15	6

Highest pathogenic variant AF is 0.00000433696

GnomAD

Source: gnomAD

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: 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
• 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