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 | 412 | 33 | 359 |
| Samples | 250 | 26 | 216 |
| Peptides | 196 | 26 | 153 |
Function
NBPF12 · NBPF member 12
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, May 2013].
Isoforms & Proteins
2 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 201 amino-acid changes on canonical ENST00000617931 · 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 NBPF12 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NBPF12 – 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 |
|---|---|---|
| Gastrointestinal Stromal Tumour | 0/0 0% | 6/133 5% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 60/1592 4% |
| Osteosarcoma | 0/45 0% | 6/166 4% |
| Cervical Carcinoma | 1/35 3% | 5/422 1% |
| Biliary Tract Carcinoma | 0/54 0% | 13/950 1% |
| Endometrial Carcinoma | 0/42 0% | 8/612 1% |
| Acute Myeloid Leukemia | 1/90 1% | 0/0 0% |
| Other Blood Cancers | 0/61 0% | 26/2725 1% |
| Hepatocellular Carcinoma | 1/46 2% | 15/2210 1% |
| Bladder Carcinoma | 1/58 2% | 6/956 1% |
| Other Solid Cancers | 0/94 0% | 11/1515 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 5/1390 0% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Melanoma | 2/210 1% | 9/1899 0% |
| Kidney Carcinoma | 3/85 4% | 7/1862 0% |
| Breast Carcinoma | 2/144 1% | 15/3264 0% |
| Colorectal Carcinoma | 3/143 2% | 10/3239 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 6/2534 0% |
| Plasma Cell Myeloma | 1/44 2% | 0/305 0% |
| Ovarian Carcinoma | 0/109 0% | 3/998 0% |
| Neuroendocrine Tumour | 0/154 0% | 2/577 0% |
| Gastric Carcinoma | 0/74 0% | 4/1809 0% |
| Head and Neck Carcinoma | 1/85 1% | 2/1574 0% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 1/810 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Neuroblastoma | 1/87 1% | 0/1331 0% |
| Pancreatic Carcinoma | 0/89 0% | 1/1611 0% |
| Glioma | 0/52 0% | 1/2127 0% |
Mutation Distribution
Where NBPF12 is mutated · all tissues, split by cell line vs tissue
How many mutations in NBPF12 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 412 mutations in NBPF12
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 |
|---|