EXOC6

exocyst complex component 6, the group of Exocyst complex

Basic information

Region (hg38): 10:92826831-93059493

Previous symbols: [ "SEC15L1" ]

Links

ENSG00000138190

∙ NCBI:54536 ∙ OMIM:609672 ∙ HGNC:23196 ∙ Uniprot:Q8TAG9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EXOC6 gene.

not_specified (67 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EXOC6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000019053.6. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			65 clinvar	2 clinvar		67
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	65	3	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EXOC6	protein_coding	protein_coding	ENST00000260762	22	228316

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.43e-7	1.00	125708	0	37	125745	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.79	299	400	0.748	0.0000191	5338
Missense in Polyphen		42	78.885	0.53242		1105
Synonymous	0.358	126	131	0.960	0.00000613	1386
Loss of Function	3.84	20	49.0	0.408	0.00000263	591

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000339	0.000337
Ashkenazi Jewish	0.0000997	0.0000992
East Asian	0.000220	0.000217
Finnish	0.000187	0.000185
European (Non-Finnish)	0.000171	0.000167
Middle Eastern	0.000220	0.000217
South Asian	0.0000989	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. Together with RAB11A, RAB3IP, RAB8A, PARD3, PRKCI, ANXA2, CDC42 and DNMBP promotes transcytosis of PODXL to the apical membrane initiation sites (AMIS), apical surface formation and lumenogenesis (By similarity). {ECO:0000250}.;
Pathway: Simplified Interaction Map Between LOXL4 and Oxidative Stress 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: 0.115

Intolerance Scores

loftool: 0.849
rvis_EVS: 0.16
rvis_percentile_EVS: 64.85

Haploinsufficiency Scores

pHI: 0.463
hipred: Y
hipred_score: 0.542
ghis: 0.534

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.433

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Exoc6
Phenotype: immune system 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); hematopoietic system phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: exocytosis;Golgi to plasma membrane transport;vesicle docking involved in exocytosis;protein transport
Cellular component: exocyst;cytosol;plasma membrane;membrane;growth cone;perinuclear region of cytoplasm;Flemming body
Molecular function: protein binding