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 | 1,952 | 246 | 1,686 |
| Samples | 632 | 117 | 506 |
| Peptides | 489 | 87 | 405 |
Function
FANCD2 · FA complementation group D2
The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group D2. This protein is monoubiquinated in response to DNA damage, resulting in its localization to nuclear foci with other proteins (BRCA1 AND BRCA2) involved in homology-directed DNA repair. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016].
Isoforms & Proteins
6 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 458 amino-acid changes on canonical ENST00000675286 · 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 FANCD2 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in FANCD2 – 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% | 16/133 12% |
| Chronic Myelogenous Leukemia | 3/25 12% | 0/0 0% |
| T-Lymphoblastic Leukemia | 4/40 10% | 0/0 0% |
| Endometrial Carcinoma | 7/42 17% | 34/612 6% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| T-Cell Non-Hodgkins Lymphoma | 1/26 4% | 0/0 0% |
| Melanoma | 13/210 6% | 57/1899 3% |
| Bladder Carcinoma | 0/58 0% | 32/956 3% |
| Thymic Epithelial Tumor | 0/0 0% | 1/39 3% |
| Colorectal Carcinoma | 12/143 8% | 62/3239 2% |
| Non-Small Cell Lung Carcinoma | 13/304 4% | 23/1390 2% |
| Burkitts Lymphoma | 2/32 6% | 2/196 1% |
| Other Solid Cancers | 0/94 0% | 27/1515 2% |
| Gastric Carcinoma | 1/74 1% | 30/1809 2% |
| Squamous Cell Lung Carcinoma | 6/57 11% | 8/810 1% |
| Other Sarcomas | 6/69 9% | 6/699 1% |
| Rhabdomyosarcoma | 1/33 3% | 2/171 1% |
| Hodgkins Lymphoma | 1/16 6% | 1/122 1% |
| Plasma Cell Myeloma | 3/44 7% | 2/305 1% |
| Osteosarcoma | 2/45 4% | 1/166 1% |
| Thyroid Gland Carcinoma | 3/45 7% | 17/1592 1% |
| Meningioma | 1/3 33% | 2/252 1% |
| Hepatocellular Carcinoma | 0/46 0% | 26/2210 1% |
| Esophageal Carcinoma | 0/23 0% | 9/769 1% |
| Chondrosarcoma | 1/14 7% | 0/75 0% |
| Ovarian Carcinoma | 1/109 1% | 10/998 1% |
| Glioma | 3/52 6% | 18/2127 1% |
| Head and Neck Carcinoma | 0/85 0% | 15/1574 1% |
| Cervical Carcinoma | 0/35 0% | 4/422 1% |
| Mesothelioma | 2/62 3% | 0/165 0% |
Mutation Distribution
Where FANCD2 is mutated · all tissues, split by cell line vs tissue
How many mutations in FANCD2 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 1,952 mutations in FANCD2
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 |
|---|