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 | 6,636 | 955 | 5,581 |
| Samples | 1,307 | 309 | 977 |
| Peptides | 963 | 232 | 775 |
Function
LOXHD1 · Lipoxygenase homology PLAT domains 1
This gene encodes a highly conserved protein consisting entirely of PLAT (polycystin/lipoxygenase/alpha-toxin) domains, thought to be involved in targeting proteins to the plasma membrane. Studies in mice show that this gene is expressed in the mechanosensory hair cells in the inner ear, and mutations in this gene lead to auditory defects, indicating that this gene is essential for normal hair cell function. Screening of human families segregating deafness identified a mutation in this gene which causes DFNB77, a progressive form of autosomal-recessive nonsyndromic hearing loss (ARNSHL). Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Mar 2010].
Isoforms & Proteins
8 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 |
|---|---|---|---|
| ENST00000642948 | A0A2R8Y7K4* | 1,551 | 920 |
| ENST00000536736 | F5GZB4* | 1,325 | 833 |
| ENST00000441551 | Q8IVV2 | 1,238 | 778 |
| ENST00000300591 | Q8IVV2-3 | 670 | 428 |
| ENST00000582408 | J3KRE7* | 665 | 424 |
| ENST00000579038 | J3QKX9* | 618 | 397 |
| ENST00000398686 | Q8IVV2-5 | 296 | 188 |
| ENST00000398705 | Q8IVV2-4 | 273 | 171 |
Gene Properties
Recurrent Mutations
All 778 amino-acid changes on canonical ENST00000441551 · 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 LOXHD1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in LOXHD1 – 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 | 10/40 25% | 0/0 0% |
| Endometrial Carcinoma | 11/42 26% | 50/612 8% |
| Melanoma | 39/210 19% | 131/1899 7% |
| T-Cell Non-Hodgkins Lymphoma | 2/26 8% | 0/0 0% |
| Oral Cavity Carcinoma | 4/54 7% | 0/0 0% |
| Glioblastoma | 6/98 6% | 0/0 0% |
| Gastric Carcinoma | 10/74 14% | 97/1809 5% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 7/133 5% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 117/2550 5% |
| Non-Small Cell Lung Carcinoma | 49/304 16% | 28/1390 2% |
| Colorectal Carcinoma | 32/143 22% | 116/3239 4% |
| Other Solid Cancers | 5/94 5% | 61/1515 4% |
| Chronic Myelogenous Leukemia | 1/25 4% | 0/0 0% |
| Small Cell Lung Carcinoma | 2/9 22% | 25/752 3% |
| Mesothelioma | 8/62 13% | 0/165 0% |
| Neuroendocrine Tumour | 15/154 10% | 9/577 2% |
| Cervical Carcinoma | 1/35 3% | 12/422 3% |
| Germ Cell Tumour | 1/25 4% | 4/169 2% |
| Non-Cancerous | 2/104 2% | 22/830 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Hepatocellular Carcinoma | 1/46 2% | 47/2210 2% |
| Ovarian Carcinoma | 12/109 11% | 11/998 1% |
| Other Sarcomas | 5/69 7% | 10/699 1% |
| Pancreatic Carcinoma | 3/89 3% | 30/1611 2% |
| Head and Neck Carcinoma | 9/85 11% | 22/1574 1% |
| Ewings Sarcoma | 5/63 8% | 1/262 0% |
| Biliary Tract Carcinoma | 2/54 4% | 16/950 2% |
| Plasma Cell Myeloma | 4/44 9% | 2/305 1% |
| Hodgkins Lymphoma | 2/16 12% | 0/122 0% |
Mutation Distribution
Where LOXHD1 is mutated · all tissues, split by cell line vs tissue
How many mutations in LOXHD1 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 52 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 6,636 mutations in LOXHD1
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 |
|---|