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 | 132 | 78 | 0 |
| Samples | 84 | 69 | 0 |
| Peptides | 126 | 73 | 0 |
Function
KATNIP · Katanin interacting protein
This gene encodes a novel, evolutionarily conserved, ciliary protein. In human hTERT-RPE1 cells, the protein is found at the base of cilia, decorating the ciliary axoneme, and enriched at the ciliary tip. The protein binds to microtubules in vitro and regulates their stability when it is overexpressed. A null mutation in this gene has been associated with Joubert syndrome, a recessive disorder that is characterized by a distinctive mid-hindbrain and cerebellar malformation and is also often associated with wider ciliopathy symptoms. Consistently, in a serum-starvation ciliogenesis assay, human fibroblast cells derived from patients with the mutation display a reduced number of ciliated cells with abnormally long cilia. [provided by RefSeq, Feb 2016].
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 |
|---|---|---|---|
| ENST00000261588 | O60303 | 132 | 126 |
Gene Properties
Recurrent Mutations
All 127 amino-acid changes on canonical ENST00000261588 · 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 KATNIP · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in KATNIP – 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 |
|---|---|---|
| T-Lymphoblastic Leukemia | 3/40 8% | 0/0 0% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Hodgkins Lymphoma | 1/16 6% | 0/122 0% |
| Cervical Carcinoma | 2/35 6% | 1/422 0% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Neuroendocrine Tumour | 4/154 3% | 0/577 0% |
| Melanoma | 8/210 4% | 3/1899 0% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 1/1390 0% |
| Endometrial Carcinoma | 2/42 5% | 1/612 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Biliary Tract Carcinoma | 4/54 7% | 0/950 0% |
| Squamous Cell Lung Carcinoma | 3/57 5% | 0/810 0% |
| Gastric Carcinoma | 5/74 7% | 1/1809 0% |
| Other Sarcomas | 2/69 3% | 0/699 0% |
| Colorectal Carcinoma | 6/143 4% | 2/3239 0% |
| Head and Neck Carcinoma | 3/85 4% | 1/1574 0% |
| Other Solid Cancers | 2/94 2% | 0/1515 0% |
| Esophageal Squamous Cell Carcinoma | 3/51 6% | 0/2550 0% |
| B-Lymphoblastic Leukemia | 3/55 5% | 0/2640 0% |
| Bladder Carcinoma | 0/58 0% | 1/956 0% |
| Ovarian Carcinoma | 0/109 0% | 1/998 0% |
| Glioma | 2/52 4% | 0/2127 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 0/2534 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 1/1592 0% |
| Breast Carcinoma | 2/144 1% | 0/3264 0% |
| Kidney Carcinoma | 0/85 0% | 1/1862 0% |
| Other Blood Cancers | 1/61 2% | 0/2725 0% |
| Hepatocellular Carcinoma | 0/46 0% | 1/2210 0% |
Mutation Distribution
Where KATNIP is mutated · all tissues, split by cell line vs tissue
How many mutations in KATNIP 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.
Mutations
All 132 mutations in KATNIP
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 |
|---|