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 | 3,399 | 658 | 2,609 |
| Samples | 2,400 | 490 | 1,870 |
| Peptides | 2,302 | 422 | 1,843 |
Function
AHNAK · AHNAK nucleoprotein
The protein encoded by this gene is a large (700 kDa) structural scaffold protein consisting of a central domain with 128 aa repeats. The encoded protein may play a role in such diverse processes as blood-brain barrier formation, cell structure and migration, cardiac calcium channel regulation, and tumor metastasis. A much shorter variant encoding a 17 kDa isoform exists for this gene, and the shorter isoform initiates a feedback loop that regulates alternative splicing of this gene. [provided by RefSeq, Oct 2016].
Isoforms & Proteins
3 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.
Gene Properties
Recurrent Mutations
All 2351 amino-acid changes on canonical ENST00000378024 · 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 AHNAK · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in AHNAK – 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 |
|---|---|---|
| T-Lymphoblastic Leukemia | 19/40 48% | 0/0 0% |
| Chronic Myelogenous Leukemia | 7/25 28% | 0/0 0% |
| Oral Cavity Carcinoma | 10/54 19% | 0/0 0% |
| Endometrial Carcinoma | 15/42 36% | 79/612 13% |
| Glioblastoma | 13/98 13% | 0/0 0% |
| Acute Myeloid Leukemia | 11/90 12% | 0/0 0% |
| Melanoma | 37/210 18% | 210/1899 11% |
| Non-Small Cell Lung Carcinoma | 69/304 23% | 112/1390 8% |
| Squamous Cell Lung Carcinoma | 8/57 14% | 73/810 9% |
| Colorectal Carcinoma | 42/143 29% | 243/3239 8% |
| Bladder Carcinoma | 12/58 21% | 71/956 7% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Other Solid Cancers | 11/94 12% | 110/1515 7% |
| Gastric Carcinoma | 17/74 23% | 118/1809 7% |
| Cervical Carcinoma | 8/35 23% | 24/422 6% |
| Hodgkins Lymphoma | 4/16 25% | 5/122 4% |
| Small Cell Lung Carcinoma | 1/9 11% | 42/752 6% |
| Esophageal Squamous Cell Carcinoma | 14/51 27% | 121/2550 5% |
| Unknown | 1/10 10% | 1/29 3% |
| Head and Neck Carcinoma | 7/85 8% | 77/1574 5% |
| Neuroendocrine Tumour | 23/154 15% | 12/577 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Ovarian Carcinoma | 15/109 14% | 34/998 3% |
| Burkitts Lymphoma | 9/32 28% | 1/196 1% |
| Ewings Sarcoma | 8/63 13% | 6/262 2% |
| Hepatocellular Carcinoma | 5/46 11% | 91/2210 4% |
| Biliary Tract Carcinoma | 6/54 11% | 33/950 3% |
| Esophageal Carcinoma | 0/23 0% | 30/769 4% |
| Other Sarcomas | 4/69 6% | 25/699 4% |
| Mesothelioma | 5/62 8% | 3/165 2% |
Mutation Distribution
Where AHNAK is mutated · all tissues, split by cell line vs tissue
How many mutations in AHNAK 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 3,399 mutations in AHNAK
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 |
|---|