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 | 1,024 | 171 | 835 |
| Samples | 534 | 113 | 410 |
| Peptides | 444 | 78 | 370 |
Function
ELP1 · Elongator acetyltransferase complex subunit 1
The protein encoded by this gene is a scaffold protein and a regulator for three different kinases involved in proinflammatory signaling. The encoded protein can bind NF-kappa-B-inducing kinase and I-kappa-B kinases through separate domains and assemble them into an active kinase complex. Mutations in this gene have been associated with familial dysautonomia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016].
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 |
|---|---|---|---|
| ENST00000374647 | O95163 | 592 | 430 |
| ENST00000537196 | F5H2T0* | 424 | 324 |
| ENST00000675765 | A0A6Q8PHA0* | 5 | 5 |
| ENST00000675078 | A0A6Q8PEX6* | 3 | 3 |
Gene Properties
Recurrent Mutations
All 430 amino-acid changes on canonical ENST00000374647 · 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 ELP1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in ELP1 – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 4/54 7% | 0/0 0% |
| Unknown | 1/10 10% | 1/29 3% |
| Glioblastoma | 5/98 5% | 0/0 0% |
| Endometrial Carcinoma | 4/42 10% | 29/612 5% |
| Melanoma | 7/210 3% | 56/1899 3% |
| Hodgkins Lymphoma | 4/16 25% | 0/122 0% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Non-Small Cell Lung Carcinoma | 13/304 4% | 29/1390 2% |
| Plasma Cell Myeloma | 4/44 9% | 3/305 1% |
| Bladder Carcinoma | 2/58 3% | 17/956 2% |
| Cervical Carcinoma | 2/35 6% | 6/422 1% |
| Burkitts Lymphoma | 4/32 12% | 0/196 0% |
| Colorectal Carcinoma | 10/143 7% | 48/3239 1% |
| Gastric Carcinoma | 3/74 4% | 29/1809 2% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 13/810 2% |
| Germ Cell Tumour | 0/25 0% | 3/169 2% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 1/71 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 10/752 1% |
| Thyroid Gland Carcinoma | 3/45 7% | 17/1592 1% |
| Other Sarcomas | 4/69 6% | 5/699 1% |
| Other Solid Cancers | 2/94 2% | 14/1515 1% |
| Rhabdomyosarcoma | 2/33 6% | 0/171 0% |
| Non-Cancerous | 0/104 0% | 9/830 1% |
| Hepatocellular Carcinoma | 1/46 2% | 18/2210 1% |
| Breast Carcinoma | 10/144 7% | 18/3264 1% |
| Neuroendocrine Tumour | 3/154 2% | 3/577 1% |
| Head and Neck Carcinoma | 2/85 2% | 11/1574 1% |
| Medulloblastoma | 0/0 0% | 3/450 1% |
| Prostate Carcinoma | 2/13 15% | 12/2105 1% |
| Esophageal Carcinoma | 0/23 0% | 5/769 1% |
Mutation Distribution
Where ELP1 is mutated · all tissues, split by cell line vs tissue
How many mutations in ELP1 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.
Mutations
All 1,024 mutations in ELP1
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 |
|---|