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 | 2,407 | 366 | 1,978 |
| Samples | 1,098 | 215 | 863 |
| Peptides | 987 | 169 | 814 |
Function
NIPBL · NIPBL cohesin loading factor
This gene encodes the homolog of the Drosophila melanogaster Nipped-B gene product and fungal Scc2-type sister chromatid cohesion proteins. The Drosophila protein facilitates enhancer-promoter communication of remote enhancers and plays a role in developmental regulation. It is also homologous to a family of chromosomal adherins with broad roles in sister chromatid cohesion, chromosome condensation, and DNA repair. The human protein has a bipartite nuclear targeting sequence and a putative HEAT repeat. Condensins, cohesins and other complexes with chromosome-related functions also contain HEAT repeats. Mutations in this gene result in Cornelia de Lange syndrome, a disorder characterized by dysmorphic facial features, growth delay, limb reduction defects, and cognitive disability. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
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 976 amino-acid changes on canonical ENST00000282516 · 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 NIPBL · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in NIPBL – 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 |
|---|---|---|
| Endometrial Carcinoma | 15/42 36% | 45/612 7% |
| Glioblastoma | 6/98 6% | 0/0 0% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Thymic Epithelial Tumor | 0/0 0% | 2/39 5% |
| Melanoma | 17/210 8% | 90/1899 5% |
| T-Lymphoblastic Leukemia | 2/40 5% | 0/0 0% |
| Cervical Carcinoma | 1/35 3% | 21/422 5% |
| Gastric Carcinoma | 11/74 15% | 71/1809 4% |
| Colorectal Carcinoma | 33/143 23% | 108/3239 3% |
| Non-Small Cell Lung Carcinoma | 16/304 5% | 48/1390 3% |
| Bladder Carcinoma | 3/58 5% | 32/956 3% |
| Other Solid Cancers | 5/94 5% | 49/1515 3% |
| Neuroendocrine Tumour | 18/154 12% | 6/577 1% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 25/810 3% |
| Biliary Tract Carcinoma | 4/54 7% | 23/950 2% |
| Germ Cell Tumour | 3/25 12% | 2/169 1% |
| Head and Neck Carcinoma | 3/85 4% | 36/1574 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 3/133 2% |
| Hodgkins Lymphoma | 1/16 6% | 2/122 2% |
| Hepatocellular Carcinoma | 4/46 9% | 44/2210 2% |
| Small Cell Lung Carcinoma | 2/9 22% | 13/752 2% |
| Esophageal Carcinoma | 2/23 9% | 13/769 2% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 42/2550 2% |
| Burkitts Lymphoma | 3/32 9% | 1/196 1% |
| Ovarian Carcinoma | 4/109 4% | 14/998 1% |
| Thyroid Gland Carcinoma | 2/45 4% | 24/1592 2% |
| Rhabdomyosarcoma | 0/33 0% | 3/171 2% |
| Kidney Carcinoma | 4/85 5% | 22/1862 1% |
| Glioma | 5/52 10% | 23/2127 1% |
| Pancreatic Carcinoma | 5/89 6% | 16/1611 1% |
Mutation Distribution
Where NIPBL is mutated · all tissues, split by cell line vs tissue
How many mutations in NIPBL 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 2,407 mutations in NIPBL
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 |
|---|