Information on LIG1
Alt. symbols: hLig1 | LIGI
Approved name: DNA ligase 1
Alt. names: ligase I, DNA, ATP-dependent
Location: 19q13.33: 48115445 - 48170603 (-)
Gene type: protein_coding, 36 transcripts.
Scores: LoFtool: 0.547000 | pLI: 0.01770510 | LOEUF: 0.450
Gene Ontology (GO)
- Molecular function: DNA ligase (ATP) activity [GO:0003910]
- Cell component: mitochondrion [GO:0005739]; cytoplasm [GO:0005737]; nucleus [GO:0005634]
- Biological process: lagging strand elongation [GO:0006273]; Okazaki fragment processing involved in mitotic DNA replication [GO:1903461]
Normal function
Dysfunction and disease
[Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD96 |
Immunodeficiency 96 | AR |
619774 |
0 (0 fams) |
Please mind that curation (inclusion of all reported patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of LIG1
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000263274.12 | 1 | CCDS12711 | Select | protein_coding | 28 | Yes | 3125 | NM_000234 |
| 202 | ENST00000427526.6 | CCDS74409 | protein_coding | 27 | No | 3027 | NM_001289063 | ||
| 212 | ENST00000596549.6 | protein_coding | No | 580 | NM_001289064 | ||||
| 221 | ENST00000699866.1 | protein_coding | No | NM_001320970 | |||||
| 225 | ENST00000699870.1 | nonsense_mediated_decay | No | XM_047438834 | |||||
| 229 | ENST00000699874.1 | protein_coding | No | NM_001320971 |
Published variants
Found 0 variants
| Var.name ⓘ | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that curation (inclusion of all reported gene variants) 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 LIG1
Please mind that curation (inclusion of all relevant literature) has not started yet. Please contact us if you want to volunteer.
| ID | Year | Title | Journal | PMID | Variants |
|---|