Information on UBE2T
Basic details
Alt. symbols: HSPC150 | FANCT
Approved name: ubiquitin conjugating enzyme E2 T
Alt. names: ubiquitin-conjugating enzyme E2T
Location: 1q32.1: 202331544 - 202341984 (-)
Gene type: protein_coding, 12 transcripts.
Scores: LoFtool: 0.774000 | pLI: 0.00036920 | LOEUF: 1.304
Normal function
Dysfunction and disease
Fanconi anemia, complementation group T [MIM:616435] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
FANCT |
Fanconi anemia, complementation group T | AR |
616435 |
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 UBE2T
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 205 | ENST00000646651.1 | 1 | CCDS1425 | Select | protein_coding | 7 | Yes | 878 | NM_001310326,NM_014176 |
Published variants
Found 1 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|---|---|---|---|---|---|---|
| EX2_EX6-DEL |
EX2-6 | 43-574 | c.-77_468del | p.? | exon_loss_variant | Likely Pathogenic | 1 |
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 UBE2T
| ID | Year | Title | Journal | PMID | Variants |
|---|---|---|---|---|---|
| 537 |
2022 | Copy Number Analysis in a Large Cohort Suggestive of Inborn ... | JoCI | 35486341 |
1 |