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 | 2,987 | 575 | 2,358 |
| Samples | 1,832 | 372 | 1,436 |
| Peptides | 1,577 | 277 | 1,314 |
Function
TG · Thyroglobulin
Thyroglobulin (Tg) is a glycoprotein homodimer produced predominantly by the thryroid gland. It acts as a substrate for the synthesis of thyroxine and triiodothyronine as well as the storage of the inactive forms of thyroid hormone and iodine. Thyroglobulin is secreted from the endoplasmic reticulum to its site of iodination, and subsequent thyroxine biosynthesis, in the follicular lumen. Mutations in this gene cause thyroid dyshormonogenesis, manifested as goiter, and are associated with moderate to severe congenital hypothyroidism. Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis. [provided by RefSeq, Nov 2009].
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.
Gene Properties
Recurrent Mutations
All 1555 amino-acid changes on canonical ENST00000220616 · 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 TG · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in TG – 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 |
|---|---|---|
| Oral Cavity Carcinoma | 10/54 19% | 0/0 0% |
| Chronic Myelogenous Leukemia | 4/25 16% | 0/0 0% |
| T-Lymphoblastic Leukemia | 6/40 15% | 0/0 0% |
| Endometrial Carcinoma | 14/42 33% | 69/612 11% |
| Melanoma | 28/210 13% | 184/1899 10% |
| Non-Small Cell Lung Carcinoma | 54/304 18% | 99/1390 7% |
| Gastric Carcinoma | 17/74 23% | 129/1809 7% |
| Squamous Cell Lung Carcinoma | 14/57 25% | 49/810 6% |
| Colorectal Carcinoma | 32/143 22% | 188/3239 6% |
| Other Solid Cancers | 15/94 16% | 87/1515 6% |
| Glioblastoma | 6/98 6% | 0/0 0% |
| Bladder Carcinoma | 5/58 9% | 54/956 6% |
| Acute Myeloid Leukemia | 5/90 6% | 0/0 0% |
| Neuroendocrine Tumour | 28/154 18% | 11/577 2% |
| Hodgkins Lymphoma | 2/16 12% | 5/122 4% |
| Osteosarcoma | 9/45 20% | 0/166 0% |
| Pheochromocytoma and Paraganglioma | 0/0 0% | 3/71 4% |
| Cervical Carcinoma | 1/35 3% | 18/422 4% |
| Rhabdomyosarcoma | 0/33 0% | 8/171 5% |
| Acute Monocytic Leukemia | 0/1 0% | 1/25 4% |
| Esophageal Carcinoma | 2/23 9% | 28/769 4% |
| Gastrointestinal Stromal Tumour | 0/0 0% | 5/133 4% |
| Ovarian Carcinoma | 10/109 9% | 30/998 3% |
| Esophageal Squamous Cell Carcinoma | 11/51 22% | 75/2550 3% |
| Thyroid Gland Carcinoma | 2/45 4% | 50/1592 3% |
| Head and Neck Carcinoma | 9/85 11% | 42/1574 3% |
| Small Cell Lung Carcinoma | 0/9 0% | 19/752 3% |
| Breast Carcinoma | 20/144 14% | 60/3264 2% |
| Hepatocellular Carcinoma | 4/46 9% | 48/2210 2% |
| Biliary Tract Carcinoma | 4/54 7% | 19/950 2% |
Mutation Distribution
Where TG is mutated · all tissues, split by cell line vs tissue
How many mutations in TG 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 2,987 mutations in TG
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 |
|---|