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 | 3,220 | 300 | 2,887 |
| Samples | 1,596 | 143 | 1,436 |
| Peptides | 1,658 | 172 | 1,506 |
Function
KIAA1109 · Bridge-like lipid transfer protein family member 1
Bridge-like lipid transfer protein that functions as molecular bridges between endoplasmic reticulum and the membranes targeted for lipid delivery (PubMed:35491307, PubMed:40269155). Forms a tunnel with multiple beta-grooves that allows the transport of phospholipids (By similarity). Provides phosphatidylethanolamine for glycosylphosphatidylinositol (GPI) anchor synthesis in the endoplasmic reticulum (PubMed:35015055). Plays a role in endosomal trafficking and endosome recycling (PubMed:30906834). Also involved in the actin cytoskeleton and cilia structural dynamics (PubMed:30906834). Acts as a regulator of phagocytosis (PubMed:31540829). Required for the formation of endoplasmic reticulum-plasma membrane junctions which are critical for lipid exchange (PubMed:40269155)
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.
| Transcript | UniProt | Mutations | Peptides |
|---|---|---|---|
| ENST00000264501 | Q2LD37 | 2,030 | 1,610 |
| ENST00000388738 | A0A8J8Z0T9* | 1,190 | 960 |
Gene Properties
Recurrent Mutations
All 1610 amino-acid changes on canonical ENST00000264501 · 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 KIAA1109 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in KIAA1109 – 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 | 2/42 5% | 65/612 11% |
| Melanoma | 9/210 4% | 207/1899 11% |
| T-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| Squamous Cell Lung Carcinoma | 1/57 2% | 68/810 8% |
| Non-Small Cell Lung Carcinoma | 31/304 10% | 91/1390 7% |
| Colorectal Carcinoma | 15/143 10% | 193/3239 6% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| Gastric Carcinoma | 7/74 9% | 97/1809 5% |
| Bladder Carcinoma | 3/58 5% | 50/956 5% |
| Other Solid Cancers | 3/94 3% | 78/1515 5% |
| Cervical Carcinoma | 1/35 3% | 20/422 5% |
| Hodgkins Lymphoma | 2/16 12% | 4/122 3% |
| Acute Myeloid Leukemia | 3/90 3% | 0/0 0% |
| Head and Neck Carcinoma | 3/85 4% | 52/1574 3% |
| Small Cell Lung Carcinoma | 0/9 0% | 24/752 3% |
| Esophageal Carcinoma | 1/23 4% | 22/769 3% |
| Neuroendocrine Tumour | 8/154 5% | 13/577 2% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 64/2550 3% |
| Germ Cell Tumour | 0/25 0% | 5/169 3% |
| Hepatocellular Carcinoma | 0/46 0% | 56/2210 3% |
| Other Sarcomas | 2/69 3% | 17/699 2% |
| Ovarian Carcinoma | 3/109 3% | 24/998 2% |
| Plasma Cell Myeloma | 4/44 9% | 4/305 1% |
| Biliary Tract Carcinoma | 1/54 2% | 22/950 2% |
| Thyroid Gland Carcinoma | 3/45 7% | 34/1592 2% |
| Breast Carcinoma | 7/144 5% | 57/3264 2% |
| Non-Cancerous | 0/104 0% | 17/830 2% |
| Mesothelioma | 1/62 2% | 3/165 2% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Kidney Carcinoma | 2/85 2% | 27/1862 1% |
Mutation Distribution
Where KIAA1109 is mutated · all tissues, split by cell line vs tissue
How many mutations in KIAA1109 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 3,220 mutations in KIAA1109
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 |
|---|