Information on EPG5
Basic details
Alt. symbols: KIAA1632 | hEPG5
Approved name: ectopic P-granules 5 autophagy tethering factor
Alt. names: KIAA1632, ectopic P-granules autophagy protein 5 homolog (C. elegans)
Location: 18q21.1: 45800581 - 45967329 (-)
Gene type: protein_coding, 19 transcripts.
Scores: LoFtool: | pLI: 0.00000069 | LOEUF: 0.456
Normal function
Dysfunction and disease
Vici syndrome [MIM:242840]. Biallelic mutations in EPG5 cause Vici syndrome. This is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum (ACC), cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy (summary by Finocchi et al., 2012). [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
VICIS |
Vici syndrome | AR |
242840 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of EPG5
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000282041.11 | 1 | CCDS11926 | Select | protein_coding | 44 | Yes | 12688 | NM_020964 |
| 209 | ENST00000590884.6 | nonsense_mediated_decay | No | 3767 | XM_047437713 | ||||
| 210 | ENST00000592272.6 | nonsense_mediated_decay | No | 3999 | XM_047437712 | ||||
| 213 | ENST00000696483.1 | protein_coding | No | NM_001410858 | |||||
| 216 | ENST00000696489.1 | protein_coding | No | NM_001410859 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in EPG5
| ID | Year | Title | Journal | PMID | Variants |
|---|