EXOC3L4

exocyst complex component 3 like 4

Basic information

Region (hg38): 14:103094724-103110559

Previous symbols: [ "C14orf73" ]

Links

ENSG00000205436 ∙ NCBI:91828 ∙ ∙ HGNC:20120 ∙ Uniprot:Q17RC7 ∙ 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 EXOC3L4 gene.

• Inborn genetic diseases (40 variants)
• not provided (3 variants)
• Autism (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EXOC3L4 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					1	1
missense			38	3	2	43
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	38	3	3

Variants in EXOC3L4

This is a list of pathogenic ClinVar variants found in the EXOC3L4 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-103100473-G-A		not specified	Uncertain significance (Feb 01, 2023)
14-103100481-C-T		not specified	Uncertain significance (Oct 10, 2023)
14-103100516-T-G		not specified	Likely benign (Dec 17, 2023)
14-103100577-A-G		not specified	Uncertain significance (Dec 01, 2022)
14-103102201-G-C		not specified	Uncertain significance (Jun 23, 2023)
14-103102250-C-G		not specified	Uncertain significance (Jun 24, 2022)
14-103102284-C-G		Autism	Uncertain significance (Mar 12, 2021)
14-103102316-G-T		not specified	Uncertain significance (May 18, 2022)
14-103102370-G-A		not specified	Uncertain significance (Aug 17, 2022)
14-103102405-C-A		not specified	Uncertain significance (Jul 09, 2021)
14-103102410-C-G			Benign (Feb 17, 2020)
14-103102412-A-G		not specified	Uncertain significance (Oct 22, 2021)
14-103102438-C-A		not specified	Uncertain significance (Oct 14, 2023)
14-103102459-G-C		not specified	Uncertain significance (Jan 22, 2024)
14-103102499-G-T		not specified	Uncertain significance (Mar 31, 2023)
14-103102540-T-A		not specified	Uncertain significance (Feb 07, 2023)
14-103102612-G-A			Benign (Oct 16, 2019)
14-103102641-C-G		not specified	Uncertain significance (Jul 14, 2021)
14-103102646-C-T		not specified	Uncertain significance (Dec 06, 2022)
14-103102654-G-A		not specified	Uncertain significance (Aug 09, 2021)
14-103102664-G-A		not specified	Uncertain significance (Dec 02, 2022)
14-103102669-T-G		not specified	Uncertain significance (Feb 28, 2023)
14-103102691-G-A		not specified	Uncertain significance (May 16, 2023)
14-103102702-C-T		not specified	Uncertain significance (Jan 23, 2024)
14-103103964-G-A		not specified	Uncertain significance (Sep 17, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EXOC3L4	protein_coding	protein_coding	ENST00000380069	11	10416

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
5.24e-9	0.844	125652	0	92	125744	0.000366

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.691	356	395	0.902	0.0000260	4434
Missense in Polyphen		88	101.81	0.86436		1337
Synonymous	1.14	161	180	0.892	0.0000124	1508
Loss of Function	1.63	17	26.0	0.654	0.00000131	297

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000343	0.000342
Ashkenazi Jewish	0.00	0.00
East Asian	0.000957	0.000925
Finnish	0.00	0.00
European (Non-Finnish)	0.000510	0.000475
Middle Eastern	0.000957	0.000925
South Asian	0.000338	0.000327
Other	0.000328	0.000326

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.106
• hipred: N
• hipred_score: 0.180
• ghis: 0.423

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Exoc3l4

Gene ontology

• Biological process: exocytosis;exocyst localization
• Cellular component: exocyst
• Molecular function: SNARE binding