Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 1,948 | 264 | 1,635 |
| Samples | 492 | 99 | 381 |
| Peptides | 399 | 71 | 331 |
Function
LIG4 · DNA ligase 4
The protein encoded by this gene is a DNA ligase that joins single-strand breaks in a double-stranded polydeoxynucleotide in an ATP-dependent reaction. This protein is essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). This protein forms a complex with the X-ray repair cross complementing protein 4 (XRCC4), and further interacts with the DNA-dependent protein kinase (DNA-PK). Both XRCC4 and DNA-PK are known to be required for NHEJ. The crystal structure of the complex formed by this protein and XRCC4 has been resolved. Defects in this gene are the cause of LIG4 syndrome. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
4 transcripts · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000442234 | P49917 | 537 | 394 |
| ENST00000405925 | P49917 | 480 | 376 |
| ENST00000611712 | P49917 | 480 | 376 |
| ENST00000614526 | A0A0C4DGV9* | 451 | 356 |
Gene Properties
Recurrent Mutations
All 394 amino-acid changes on canonical ENST00000442234 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in LIG4 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in LIG4 – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| Chronic Myelogenous Leukemia | 2/25 8% | 0/0 0% |
| Endometrial Carcinoma | 10/42 24% | 22/612 4% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 21/810 3% |
| Unknown | 0/10 0% | 1/29 3% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Mesothelioma | 4/62 6% | 1/165 1% |
| Other Solid Cancers | 6/94 6% | 29/1515 2% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Colorectal Carcinoma | 16/143 11% | 51/3239 2% |
| Melanoma | 5/210 2% | 34/1899 2% |
| Gastric Carcinoma | 7/74 9% | 27/1809 1% |
| Cervical Carcinoma | 2/35 6% | 6/422 1% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 35/2550 1% |
| Hepatocellular Carcinoma | 4/46 9% | 23/2210 1% |
| Bladder Carcinoma | 1/58 2% | 11/956 1% |
| Non-Small Cell Lung Carcinoma | 6/304 2% | 13/1390 1% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 8/752 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Ovarian Carcinoma | 1/109 1% | 10/998 1% |
| Neuroendocrine Tumour | 5/154 3% | 2/577 0% |
| Other Sarcomas | 2/69 3% | 5/699 1% |
| Head and Neck Carcinoma | 1/85 1% | 14/1574 1% |
| Esophageal Carcinoma | 0/23 0% | 6/769 1% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 1/133 1% |
| Non-Cancerous | 1/104 1% | 5/830 1% |
| Glioma | 0/52 0% | 14/2127 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Biliary Tract Carcinoma | 1/54 2% | 5/950 1% |
Mutation Distribution
Where LIG4 is mutated · all tissues, split by cell line vs tissue
How many mutations in LIG4 were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
GTEx Expression
Median TPM across 54 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 1,948 mutations in LIG4
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|