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 | 667 | 16 | 649 |
| Samples | 260 | 15 | 243 |
| Peptides | 122 | 15 | 111 |
Function
NBPF20 · NBPF member 20
This gene is a member of the neuroblastoma breakpoint family (NBPF) which consists of dozens of recently duplicated genes primarily located in segmental duplications on human chromosome 1. This gene family has experienced its greatest expansion within the human lineage and has expanded, to a lesser extent, among primates in general. Members of this gene family are characterized by tandemly repeated copies of DUF1220 protein domains. Gene copy number variations in the human chromosomal region 1q21.1, where most DUF1220 domains are located, have been implicated in a number of developmental and neurogenetic diseases such as microcephaly, macrocephaly, autism, schizophrenia, cognitive disability, congenital heart disease, neuroblastoma, and congenital kidney and urinary tract anomalies. Altered expression of some gene family members is associated with several types of cancer. This gene family contains numerous pseudogenes. [provided by RefSeq, Mar 2014].
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 |
|---|---|---|---|
| ENST00000369373 | H7BY70* | 667 | 122 |
Gene Properties
Recurrent Mutations
All 241 amino-acid changes on canonical ENST00000369373 · 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 NBPF20 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NBPF20 – 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 |
|---|---|---|
| Thyroid Gland Carcinoma | 0/45 0% | 99/1592 6% |
| Glioblastoma | 3/98 3% | 0/0 0% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Cervical Carcinoma | 1/35 3% | 5/422 1% |
| Melanoma | 1/210 0% | 19/1899 1% |
| Osteosarcoma | 0/45 0% | 2/166 1% |
| Other Blood Cancers | 0/61 0% | 24/2725 1% |
| Biliary Tract Carcinoma | 0/54 0% | 8/950 1% |
| Endometrial Carcinoma | 0/42 0% | 5/612 1% |
| Colorectal Carcinoma | 2/143 1% | 16/3239 0% |
| Breast Carcinoma | 0/144 0% | 16/3264 0% |
| Hepatocellular Carcinoma | 1/46 2% | 9/2210 0% |
| Non-Small Cell Lung Carcinoma | 2/304 1% | 5/1390 0% |
| Esophageal Carcinoma | 0/23 0% | 3/769 0% |
| Head and Neck Carcinoma | 0/85 0% | 6/1574 0% |
| Kidney Carcinoma | 2/85 2% | 4/1862 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 2/810 0% |
| Gastric Carcinoma | 0/74 0% | 4/1809 0% |
| Bladder Carcinoma | 0/58 0% | 2/956 0% |
| Prostate Carcinoma | 0/13 0% | 4/2105 0% |
| Other Solid Cancers | 0/94 0% | 3/1515 0% |
| Glioma | 0/52 0% | 4/2127 0% |
| Neuroendocrine Tumour | 1/154 1% | 0/577 0% |
| Neuroblastoma | 1/87 1% | 0/1331 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 1/2534 0% |
| B-Lymphoblastic Leukemia | 0/55 0% | 1/2640 0% |
Mutation Distribution
Where NBPF20 is mutated · all tissues, split by cell line vs tissue
How many mutations in NBPF20 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 667 mutations in NBPF20
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 |
|---|