Information on USB1
Basic details
Alt. symbols: C16orf57 | FLJ13154 | HVSL1 | Mpn1
Approved name: U6 snRNA biogenesis phosphodiesterase 1
Alt. names: chromosome 16 open reading frame 57, U6 snRNA biogenesis 1 | HVSL motif containing 1, poikiloderma with neutropenia, U six biogenesis 1, mutated in poikiloderma with neutropenia protein 1
Location: 16q21: 57999546 - 58021618 (+)
Gene type: protein_coding, 21 transcripts.
Scores: LoFtool: | pLI: 0.12277472 | LOEUF: 0.999
Normal function
Dysfunction and disease
Poikiloderma with neutropenia [MIM:604173] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
2696 |
Poikiloderma with neutropenia | AR |
604173 |
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 USB1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 203 | ENST00000539737.6 | CCDS55998 | protein_coding | 6 | No | 1212 | NM_001195302 | ||
| 201 | ENST00000219281.8 | 1 | CCDS10791 | Select | protein_coding | 7 | Yes | 2248 | NM_024598 |
| 205 | ENST00000561743.5 | CCDS81991 | protein_coding | 7 | No | 1135 | NM_001330568 | ||
| 207 | ENST00000563149.2 | CCDS81990 | protein_coding | 4 | No | 1751 | NM_001330569 | ||
| 202 | ENST00000423271.8 | CCDS55997 | protein_coding | 4 | No | 1217 | NM_001204911 |
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 USB1
| ID | Year | Title | Journal | PMID | Variants |
|---|