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 | 2,104 | 378 | 1,716 |
| Samples | 1,749 | 301 | 1,438 |
| Peptides | 1,172 | 202 | 1,043 |
Function
NPAP1 · Nuclear pore associated protein 1
This intronless retrogene is located in the Prader-Willi syndrome region on chromosome 15. This gene exhibits tissue-specific imprinting. Expression in adult testis and brain is biallelic, while expression in fetal brain is monoallelic and only from the paternal chromosome. The encoded protein is associated with the nuclear pore complex. [provided by RefSeq, Mar 2021].
Isoforms & Proteins
1 transcript · 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 |
|---|---|---|---|
| ENST00000329468 | Q9NZP6 | 2,104 | 1,172 |
Gene Properties
Recurrent Mutations
All 1172 amino-acid changes on canonical ENST00000329468 · 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 NPAP1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NPAP1 – 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 |
|---|---|---|
| Melanoma | 31/210 15% | 254/1899 13% |
| Non-Small Cell Lung Carcinoma | 63/304 21% | 148/1390 11% |
| Other Solid Cancers | 8/94 9% | 150/1515 10% |
| Oral Cavity Carcinoma | 5/54 9% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 7/57 12% | 69/810 9% |
| Acute Myeloid Leukemia | 7/90 8% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Endometrial Carcinoma | 13/42 31% | 37/612 6% |
| Esophageal Squamous Cell Carcinoma | 11/51 22% | 154/2550 6% |
| Colorectal Carcinoma | 34/143 24% | 145/3239 4% |
| Thymic Epithelial Tumor | 0/0 0% | 2/39 5% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Gastric Carcinoma | 9/74 12% | 82/1809 5% |
| Small Cell Lung Carcinoma | 2/9 22% | 34/752 5% |
| Acute Monocytic Leukemia | 1/1 100% | 0/25 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Neuroendocrine Tumour | 15/154 10% | 9/577 2% |
| Head and Neck Carcinoma | 5/85 6% | 46/1574 3% |
| Hodgkins Lymphoma | 0/16 0% | 4/122 3% |
| Hepatocellular Carcinoma | 5/46 11% | 60/2210 3% |
| Bladder Carcinoma | 3/58 5% | 24/956 3% |
| Other Sarcomas | 3/69 4% | 17/699 2% |
| Biliary Tract Carcinoma | 6/54 11% | 19/950 2% |
| Esophageal Carcinoma | 3/23 13% | 16/769 2% |
| Cervical Carcinoma | 2/35 6% | 8/422 2% |
| Germ Cell Tumour | 2/25 8% | 2/169 1% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Plasma Cell Myeloma | 5/44 11% | 2/305 1% |
| Osteosarcoma | 3/45 7% | 1/166 1% |
| Ovarian Carcinoma | 6/109 6% | 15/998 2% |
Mutation Distribution
Where NPAP1 is mutated · all tissues, split by cell line vs tissue
How many mutations in NPAP1 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 44 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 2,104 mutations in NPAP1
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 |
|---|