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 | 130 | 28 | 100 |
| Samples | 128 | 27 | 99 |
| Peptides | 94 | 20 | 74 |
Function
KAZALD1 · Kazal type serine peptidase inhibitor domain 1
This gene encodes a secreted member of the insulin growth factor-binding protein (IGFBP) superfamily. The protein contains an insulin growth factor-binding domain in its N-terminal region, a Kazal-type serine protease inhibitor and follistatin-like domain in its central region, and an immunoglobulin-like domain in its C-terminal region. Studies of the mouse ortholog suggest that this protein may function in bone development and bone regeneration. This gene is hypomethylated and over-expressed in high-grade glioma compared to low-grade glioma, and thus the hypomethylated gene may be associated with cell proliferation and the shorter survival of patients with high-grade glioma. It is also one of numerous genes found to be deleted in a novel 5.54 Mb interstitial deletion, which is associated with multiple congenital anomalies. Alternative splicing results in multiple transcript variants. [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 |
|---|---|---|---|
| ENST00000370200 | Q96I82 | 130 | 94 |
Gene Properties
Recurrent Mutations
All 94 amino-acid changes on canonical ENST00000370200 · 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 KAZALD1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in KAZALD1 – 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% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Germ Cell Tumour | 2/25 8% | 1/169 1% |
| Glioblastoma | 1/98 1% | 0/0 0% |
| Rhabdomyosarcoma | 0/33 0% | 2/171 1% |
| Non-Small Cell Lung Carcinoma | 4/304 1% | 7/1390 0% |
| Melanoma | 3/210 1% | 10/1899 1% |
| Biliary Tract Carcinoma | 1/54 2% | 5/950 1% |
| Colorectal Carcinoma | 1/143 1% | 17/3239 1% |
| Bladder Carcinoma | 0/58 0% | 5/956 1% |
| Endometrial Carcinoma | 0/42 0% | 3/612 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 2/810 0% |
| Gastric Carcinoma | 0/74 0% | 6/1809 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 5/1592 0% |
| Other Solid Cancers | 0/94 0% | 5/1515 0% |
| Glioma | 2/52 4% | 4/2127 0% |
| Neuroendocrine Tumour | 1/154 1% | 1/577 0% |
| Small Cell Lung Carcinoma | 1/9 11% | 1/752 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Medulloblastoma | 0/0 0% | 1/450 0% |
| Ovarian Carcinoma | 1/109 1% | 1/998 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 2/2534 0% |
| Esophageal Squamous Cell Carcinoma | 0/51 0% | 4/2550 0% |
| Kidney Carcinoma | 0/85 0% | 3/1862 0% |
| Esophageal Carcinoma | 0/23 0% | 1/769 0% |
| Head and Neck Carcinoma | 0/85 0% | 2/1574 0% |
| B-Lymphoblastic Leukemia | 2/55 4% | 1/2640 0% |
| Non-Cancerous | 0/104 0% | 1/830 0% |
| Breast Carcinoma | 1/144 1% | 2/3264 0% |
Mutation Distribution
Where KAZALD1 is mutated · all tissues, split by cell line vs tissue
How many mutations in KAZALD1 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 130 mutations in KAZALD1
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 |
|---|