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 | 738 | 198 | 536 |
| Samples | 295 | 124 | 169 |
| Peptides | 133 | 27 | 109 |
Function
HLA-DQB2 · Major histocompatibility complex, class II, DQ beta 2
HLA-DQB2 belongs to the family of HLA class II beta chain paralogs. Class II molecules are heterodimers consisting of an alpha (DQA) and a beta chain (DQB), both anchored in the membrane. They play 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). Polymorphisms in the alpha and beta chains specify the peptide binding specificity, and typing for these polymorphisms is routinely done for bone marrow transplantation. However this gene, HLA-DQB2, is not routinely typed, as it is not thought to have an effect on transplantation. There is conflicting evidence in the literature and public sequence databases for the protein-coding capacity of HLA-DQB2. Because there is evidence of transcription and an intact ORF, HLA-DQB2 is represented in Entrez Gene and in RefSeq as a protein-coding locus. [provided by RefSeq, Oct 2010].
Isoforms & Proteins
3 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.
Gene Properties
Recurrent Mutations
All 101 amino-acid changes on canonical ENST00000411527 · 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-DQB2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in HLA-DQB2 – 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-Cell Non-Hodgkins Lymphoma | 4/26 15% | 0/0 0% |
| Oral Cavity Carcinoma | 3/54 6% | 0/0 0% |
| T-Lymphoblastic Leukemia | 1/40 2% | 0/0 0% |
| Non-Small Cell Lung Carcinoma | 32/304 11% | 7/1390 0% |
| Endometrial Carcinoma | 1/42 2% | 14/612 2% |
| Acute Myeloid Leukemia | 2/90 2% | 0/0 0% |
| Mesothelioma | 1/62 2% | 4/165 2% |
| Glioblastoma | 2/98 2% | 0/0 0% |
| Melanoma | 8/210 4% | 21/1899 1% |
| Squamous Cell Lung Carcinoma | 8/57 14% | 2/810 0% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 16/1592 1% |
| Osteosarcoma | 1/45 2% | 1/166 1% |
| Colorectal Carcinoma | 10/143 7% | 20/3239 1% |
| Cervical Carcinoma | 2/35 6% | 2/422 0% |
| Non-Cancerous | 7/104 7% | 0/830 0% |
| Ovarian Carcinoma | 2/109 2% | 6/998 1% |
| Other Solid Cancers | 1/94 1% | 9/1515 1% |
| Ewings Sarcoma | 2/63 3% | 0/262 0% |
| Plasma Cell Myeloma | 2/44 5% | 0/305 0% |
| Other Sarcomas | 0/69 0% | 4/699 1% |
| Germ Cell Tumour | 1/25 4% | 0/169 0% |
| Rhabdomyosarcoma | 0/33 0% | 1/171 1% |
| Bladder Carcinoma | 1/58 2% | 4/956 0% |
| Neuroendocrine Tumour | 2/154 1% | 1/577 0% |
| Biliary Tract Carcinoma | 0/54 0% | 4/950 0% |
| Small Cell Lung Carcinoma | 2/9 22% | 1/752 0% |
| B-Cell Non-Hodgkins Lymphoma | 4/88 5% | 6/2534 0% |
| Prostate Carcinoma | 3/13 23% | 5/2105 0% |
| Glioma | 1/52 2% | 7/2127 0% |
Mutation Distribution
Where HLA-DQB2 is mutated · all tissues, split by cell line vs tissue
How many mutations in HLA-DQB2 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 53 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 738 mutations in HLA-DQB2
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 |
|---|