EXOC7

exocyst complex component 7, the group of Exocyst complex|MicroRNA protein coding host genes

Basic information

Region (hg38): 17:76081016-76121576

Links

ENSG00000182473 ∙ NCBI:23265 ∙ OMIM:608163 ∙ HGNC:23214 ∙ Uniprot:Q9UPT5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

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

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EXOC7 gene.

• Neurodevelopmental disorder with seizures and brain atrophy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EXOC7 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				10	1	11
missense			60	6	1	67
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)	1		1			2
splice region			1		1	2
non coding			17	6		23
Total	1	0	78	22	2

Highest pathogenic variant AF is 0.00000658

Variants in EXOC7

This is a list of pathogenic ClinVar variants found in the EXOC7 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-76081380-T-C		not specified	Uncertain significance (Nov 27, 2024)
17-76081401-C-T		not specified	Uncertain significance (Jun 07, 2024)
17-76081620-G-A		not specified	Uncertain significance (Jan 16, 2024)
17-76081642-T-C		not specified	Uncertain significance (Aug 20, 2024)
17-76081644-C-T		not specified	Likely benign (Oct 27, 2021)
17-76081645-G-A		not specified	Likely benign (Jul 07, 2024)
17-76081647-G-A		not specified	Uncertain significance (Jul 17, 2024)
17-76081695-G-A		not specified	Uncertain significance (Jun 07, 2023)
17-76081732-C-A		not specified	Uncertain significance (Sep 10, 2024)
17-76081960-G-A		not specified	Uncertain significance (Sep 20, 2023)
17-76081983-G-A		not specified	Likely benign (May 11, 2022)
17-76081984-G-T		not specified	Uncertain significance (Sep 01, 2021)
17-76082014-G-C		not specified	Uncertain significance (Nov 15, 2024)
17-76082022-G-A		Neurodevelopmental disorder with seizures and brain atrophy	Uncertain significance (Aug 12, 2021)
17-76082027-C-A		not specified	Uncertain significance (Feb 16, 2023)
17-76082516-C-T		not specified	Uncertain significance (Nov 14, 2024)
17-76082535-A-G		not specified	Uncertain significance (Oct 12, 2024)
17-76082538-T-C		not specified	Uncertain significance (Nov 07, 2024)
17-76082552-T-C		not specified	Uncertain significance (Dec 28, 2023)
17-76082607-C-G		not specified	Uncertain significance (Dec 27, 2023)
17-76082618-G-A		not specified	Likely benign (Dec 14, 2021)
17-76083670-C-T		Inborn genetic diseases	Uncertain significance (Jan 04, 2022)
17-76083683-C-T		Inborn genetic diseases	Uncertain significance (Oct 05, 2023)
17-76083691-T-C		Inborn genetic diseases	Uncertain significance (Aug 29, 2024)
17-76083694-T-C		Inborn genetic diseases	Uncertain significance (Dec 16, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EXOC7	protein_coding	protein_coding	ENST00000335146	20	40571

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.23e-7	1.00	125719	0	29	125748	0.000115

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.88	344	457	0.753	0.0000284	4846
Missense in Polyphen		83	136.23	0.60925		1618
Synonymous	1.05	176	195	0.904	0.0000135	1401
Loss of Function	3.32	18	41.0	0.439	0.00000201	467

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000910	0.0000910
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000927	0.0000924
European (Non-Finnish)	0.000195	0.000193
Middle Eastern	0.00	0.00
South Asian	0.0000987	0.0000980
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. In adipocytes, plays a crucial role in targeting SLC2A4 vesicle to the plasma membrane in response to insulin, perhaps directing the vesicle to the precise site of fusion (By similarity). {ECO:0000250}.
• Pathway: Insulin signaling pathway - Homo sapiens (human);Angiopoietin Like Protein 8 Regulatory Pathway;Arf6 trafficking events;VxPx cargo-targeting to cilium;Insulin Pathway;CDC42 signaling events;Cargo trafficking to the periciliary membrane;Cilium Assembly;Organelle biogenesis and maintenance (Consensus)

Recessive Scores

• pRec: 0.176

Intolerance Scores

• loftool: 0.0265
• rvis_EVS: -0.93
• rvis_percentile_EVS: 9.61

Haploinsufficiency Scores

• pHI: 0.153
• hipred: Y
• hipred_score: 0.648
• ghis: 0.604

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.687

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Exoc7

Gene ontology

• Biological process: exocytosis;protein transport;regulation of macroautophagy;regulation of entry of bacterium into host cell
• Cellular component: exocyst;microtubule organizing center;cytosol;plasma membrane;membrane;growth cone membrane;centriolar satellite;Flemming body
• Molecular function: protein binding