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 | 424 | 58 | 366 |
| Samples | 136 | 26 | 110 |
| Peptides | 101 | 14 | 91 |
Function
NAIP · NLR family apoptosis inhibitory protein
This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This copy of the gene is full length; additional copies with truncations and internal deletions are also present in this region of chromosome 5q13. It is thought that this gene is a modifier of spinal muscular atrophy caused by mutations in a neighboring gene, SMN1. The protein encoded by this gene contains regions of homology to two baculovirus inhibitor of apoptosis proteins, and it is able to suppress apoptosis induced by various signals. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Nov 2016].
Isoforms & Proteins
5 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 100 amino-acid changes on canonical ENST00000517649 · 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 NAIP · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NAIP – 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 | 1/25 4% | 0/0 0% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Endometrial Carcinoma | 2/42 5% | 6/612 1% |
| Melanoma | 3/210 1% | 20/1899 1% |
| Non-Small Cell Lung Carcinoma | 8/304 3% | 10/1390 1% |
| Germ Cell Tumour | 0/25 0% | 2/169 1% |
| Other Sarcomas | 4/69 6% | 1/699 0% |
| Colorectal Carcinoma | 2/143 1% | 14/3239 0% |
| Osteosarcoma | 0/45 0% | 1/166 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 4/810 0% |
| Cervical Carcinoma | 0/35 0% | 2/422 0% |
| Gastric Carcinoma | 2/74 3% | 6/1809 0% |
| Glioma | 0/52 0% | 7/2127 0% |
| Non-Cancerous | 0/104 0% | 3/830 0% |
| Bladder Carcinoma | 0/58 0% | 3/956 0% |
| Hepatocellular Carcinoma | 1/46 2% | 5/2210 0% |
| Esophageal Carcinoma | 0/23 0% | 2/769 0% |
| Other Blood Cancers | 0/61 0% | 5/2725 0% |
| Head and Neck Carcinoma | 0/85 0% | 3/1574 0% |
| Neuroendocrine Tumour | 0/154 0% | 1/577 0% |
| Prostate Carcinoma | 0/13 0% | 3/2105 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Pancreatic Carcinoma | 0/89 0% | 2/1611 0% |
| Other Solid Cancers | 0/94 0% | 2/1515 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Neuroblastoma | 0/87 0% | 1/1331 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 1/1592 0% |
| Breast Carcinoma | 1/144 1% | 1/3264 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 1/2550 0% |
Mutation Distribution
Where NAIP is mutated · all tissues, split by cell line vs tissue
How many mutations in NAIP 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 424 mutations in NAIP
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 |
|---|