Information on UNG
Basic details
Alt. symbols: DGU | UDG | UNG1 | UNG2 | HIGM4
Approved name: uracil DNA glycosylase
Alt. names: uracil-DNA glycosylase 1, uracil-DNA glycosylase 2
Location: 12q24.11: 109097597 - 109126725 (+)
Gene type: protein_coding, 14 transcripts.
Scores: LoFtool: 0.745000 | pLI: 0.04658115 | LOEUF: 0.850
Normal function
Dysfunction and disease
Immunodeficiency with hyper IgM, type 5 [MIM:608106] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
HIGM5 |
Hyper-IgM syndrome type 5 | AD |
608106 |
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 UNG
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000242576.7 | 1 | CCDS9124 | Select | protein_coding | 7 | Yes | 2048 | NM_080911 |
| 202 | ENST00000336865.6 | CCDS9125 | protein_coding | 6 | No | 2130 | NM_003362 |
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 UNG
| ID | Year | Title | Journal | PMID | Variants |
|---|