CD207

CD207 molecule Q9UJ71 CLC4K_HUMAN
Protein Coding Chr 2 2p13.3 Swiss-Prot reviewed Entrez 50489
Mutations
274
CL 43 · Tissue 229
Samples
245
CL 42 · Tissue 201
Peptides
171
unique mutant peptides
Transcripts
1
isoforms mutated

Stats by Source

Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

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.

TotalCell lineTissue
Mutations27443229
Samples24542201
Peptides17127152

Function

CD207 · CD207 molecule

The protein encoded by this gene is expressed only in Langerhans cells which are immature dendritic cells of the epidermis and mucosa. It is localized in the Birbeck granules, organelles present in the cytoplasm of Langerhans cells and consisting of superimposed and zippered membranes. It is a C-type lectin with mannose binding specificity, and it has been proposed that mannose binding by this protein leads to internalization of antigen into Birbeck granules and providing access to a nonclassical antigen-processing pathway. Mutations in this gene result in Birbeck granules deficiency or loss of sugar binding activity. [provided by RefSeq, Aug 2010].

Isoforms & Proteins

1 transcript · UniProt mapping is sequence-verified (AA-safe)

About the isoform mapping
Isoforms & Proteins

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.

TranscriptUniProtMutationsPeptides
ENST00000410009 Q9UJ71 274 171

Gene Properties

Type
Protein Coding
Chromosome
2
Cytoband
2p13.3
Entrez ID
Aliases
CLEC4K

Recurrent Mutations

All 171 amino-acid changes on canonical ENST00000410009 · needle height = samples · drag the mini-map to zoom

What this lollipop shows
Recurrent Mutations

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 CD207 · cell line vs tissue

How this frequency is counted
Cancer-type mutation frequency

For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in CD207 – 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 typeCell linesTissue samples
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
Acute Myeloid Leukemia
4/90 4%
0/0 0%
Endometrial Carcinoma
2/42 5%
14/612 2%
Melanoma
2/210 1%
36/1899 2%
Non-Small Cell Lung Carcinoma
11/304 4%
15/1390 1%
Rhabdomyosarcoma
0/33 0%
3/171 2%
Squamous Cell Lung Carcinoma
0/57 0%
11/810 1%
Colorectal Carcinoma
5/143 4%
23/3239 1%
Bladder Carcinoma
0/58 0%
7/956 1%
Other Solid Cancers
0/94 0%
11/1515 1%
Gastric Carcinoma
3/74 4%
9/1809 0%
Plasma Cell Myeloma
0/44 0%
2/305 1%
Neuroendocrine Tumour
4/154 3%
0/577 0%
Esophageal Carcinoma
0/23 0%
4/769 1%
Osteosarcoma
1/45 2%
0/166 0%
Mesothelioma
1/62 2%
0/165 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Non-Cancerous
0/104 0%
4/830 0%
Head and Neck Carcinoma
2/85 2%
5/1574 0%
Meningioma
1/3 33%
0/252 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Esophageal Squamous Cell Carcinoma
2/51 4%
6/2550 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Hepatocellular Carcinoma
0/46 0%
7/2210 0%
Breast Carcinoma
2/144 1%
7/3264 0%
Prostate Carcinoma
2/13 15%
3/2105 0%
Thyroid Gland Carcinoma
0/45 0%
4/1592 0%
Medulloblastoma
0/0 0%
1/450 0%
Glioma
0/52 0%
4/2127 0%
Ovarian Carcinoma
0/109 0%
2/998 0%

Mutation Distribution

Where CD207 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CD207 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 43 healthy tissues

GTEx Portal ↗
About the expression data
GTEx Expression

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 274 mutations in CD207

About the mutation list
Mutations

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.

IDSampleTranscriptAA Change CDSTypeSourceMutant PeptideWild-type Peptide