Information on VPS45
Basic details
Alt. symbols: VPS45B | VPS45A | h-vps45 | H1
Approved name: vacuolar protein sorting 45 homolog
Alt. names: vacuolar protein sorting 45A (yeast homolog), vacuolar protein sorting 45A (yeast), vacuolar protein sorting 45 homolog (S. cerevisiae)
Location: 1q21.2: 150067279 - 150145329 (+)
Gene type: protein_coding, 47 transcripts.
Scores: LoFtool: 0.830000 | pLI: 0.00030557 | LOEUF: 0.658
Normal function
Dysfunction and disease
Neutropenia, severe congenital, 5, autosomal recessive [MIM:615285] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
SCN5 |
Severe congenital neutropenia 5 | AR |
615285 |
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 VPS45
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000369128.9 | CCDS60244 | protein_coding | 14 | No | 2224 | NM_001279353 | ||
| 216 | ENST00000644510.2 | 1 | CCDS944 | Select | protein_coding | 15 | Yes | 2328 | NM_007259 |
| 215 | ENST00000643970.2 | CCDS86017 | protein_coding | 15 | No | 2315 | NM_001279354 |
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 VPS45
| ID | Year | Title | Journal | PMID | Variants |
|---|