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 | 1,204 | 101 | 1,092 |
| Samples | 253 | 53 | 194 |
| Peptides | 129 | 21 | 105 |
Function
HLA-DQA1 · Major histocompatibility complex, class II, DQ alpha 1
HLA-DQA1 belongs to the HLA class II alpha chain paralogues. The class II molecule is a heterodimer consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. It plays a central role in the immune system by presenting peptides derived from extracellular proteins. Class II molecules are expressed in antigen presenting cells (APC: B Lymphocytes, dendritic cells, macrophages). The alpha chain is approximately 33-35 kDa. It is encoded by 5 exons; exon 1 encodes the leader peptide, exons 2 and 3 encode the two extracellular domains, and exon 4 encodes the transmembrane domain and the cytoplasmic tail. Within the DQ molecule both the alpha chain and the beta chain contain the polymorphisms specifying the peptide binding specificities, resulting in up to four different molecules. Typing for these polymorphisms is routinely done for bone marrow transplantation. [provided by RefSeq, Jul 2008].
Isoforms & Proteins
4 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 |
|---|---|---|---|
| ENST00000343139 | A0A173ADG5* | 422 | 128 |
| ENST00000395363 | A0A173ADG5* | 391 | 119 |
| ENST00000374949 | A0A173ADG5* | 390 | 118 |
| ENST00000443320 | Q08AS3* | 1 | 1 |
Gene Properties
Recurrent Mutations
All 128 amino-acid changes on canonical ENST00000343139 · 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 HLA-DQA1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HLA-DQA1 – 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 | 1/40 2% | 0/0 0% |
| Hodgkins Lymphoma | 2/16 12% | 1/122 1% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Oral Cavity Carcinoma | 1/54 2% | 0/0 0% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 2/133 2% |
| Thyroid Gland Carcinoma | 1/45 2% | 23/1592 1% |
| Melanoma | 3/210 1% | 25/1899 1% |
| Bladder Carcinoma | 1/58 2% | 11/956 1% |
| Chondrosarcoma | 0/14 0% | 1/75 1% |
| Cervical Carcinoma | 0/35 0% | 5/422 1% |
| Non-Small Cell Lung Carcinoma | 7/304 2% | 11/1390 1% |
| Endometrial Carcinoma | 1/42 2% | 5/612 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
| Plasma Cell Myeloma | 1/44 2% | 2/305 1% |
| Squamous Cell Lung Carcinoma | 0/57 0% | 7/810 1% |
| Other Solid Cancers | 1/94 1% | 11/1515 1% |
| Colorectal Carcinoma | 6/143 4% | 18/3239 1% |
| Other Blood Cancers | 1/61 2% | 17/2725 1% |
| Esophageal Squamous Cell Carcinoma | 4/51 8% | 13/2550 1% |
| Neuroblastoma | 2/87 2% | 7/1331 1% |
| Neuroendocrine Tumour | 1/154 1% | 3/577 1% |
| Small Cell Lung Carcinoma | 0/9 0% | 4/752 1% |
| Osteosarcoma | 1/45 2% | 0/166 0% |
| Burkitts Lymphoma | 1/32 3% | 0/196 0% |
| Non-Cancerous | 0/104 0% | 4/830 0% |
| Biliary Tract Carcinoma | 2/54 4% | 2/950 0% |
| Pancreatic Carcinoma | 2/89 2% | 3/1611 0% |
| Hepatocellular Carcinoma | 2/46 4% | 4/2210 0% |
| Other Sarcomas | 0/69 0% | 2/699 0% |
| B-Cell Non-Hodgkins Lymphoma | 2/88 2% | 4/2534 0% |
Mutation Distribution
Where HLA-DQA1 is mutated · all tissues, split by cell line vs tissue
How many mutations in HLA-DQA1 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 1,204 mutations in HLA-DQA1
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 |
|---|