CDH1

Cadherin 1 P12830 CADH1_HUMAN
Protein Coding Chr 16 16q22.1 Swiss-Prot reviewed Entrez 999
Mutations
1,198
CL 166 · Tissue 1,010
Samples
589
CL 106 · Tissue 471
Peptides
455
unique mutant peptides
Transcripts
4
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
Mutations1,1981661,010
Samples589106471
Peptides45572394

Function

CDH1 · Cadherin 1

This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function of this gene is thought to contribute to cancer progression by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16. [provided by RefSeq, Nov 2015].

Isoforms & Proteins

4 transcripts · 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
ENST00000261769 P12830 627 410
ENST00000422392 P12830-2 518 361
ENST00000395095 Q9UM11 27 16
ENST00000313639 Q9UM11-3 26 16

Gene Properties

Type
Protein Coding
Chromosome
16
Cytoband
16q22.1
Entrez ID
Aliases
Arc-1BCDS1CD324CDHEECADLCAM

Recurrent Mutations

All 410 amino-acid changes on canonical ENST00000261769 · 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 CDH1 · 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 CDH1 – 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
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
Gastric Carcinoma
12/74 16%
117/1809 6%
Thymic Epithelial Tumor
0/0 0%
2/39 5%
Endometrial Carcinoma
1/42 2%
26/612 4%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
5/133 4%
Acute Myeloid Leukemia
3/90 3%
0/0 0%
Unknown
0/10 0%
1/29 3%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Colorectal Carcinoma
11/143 8%
55/3239 2%
Osteosarcoma
0/45 0%
4/166 2%
Bladder Carcinoma
5/58 9%
14/956 1%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Mesothelioma
3/62 5%
1/165 1%
Squamous Cell Lung Carcinoma
3/57 5%
12/810 1%
Esophageal Carcinoma
1/23 4%
12/769 2%
Breast Carcinoma
6/144 4%
47/3264 1%
Hodgkins Lymphoma
1/16 6%
1/122 1%
Other Solid Cancers
3/94 3%
20/1515 1%
Cervical Carcinoma
2/35 6%
4/422 1%
Neuroendocrine Tumour
7/154 5%
2/577 0%
Melanoma
1/210 0%
25/1899 1%
Non-Small Cell Lung Carcinoma
7/304 2%
13/1390 1%
Plasma Cell Myeloma
3/44 7%
1/305 0%
Chondrosarcoma
1/14 7%
0/75 0%
Thyroid Gland Carcinoma
2/45 4%
15/1592 1%
Glioblastoma
1/98 1%
0/0 0%
Head and Neck Carcinoma
3/85 4%
12/1574 1%
Non-Cancerous
1/104 1%
7/830 1%
Other Sarcomas
0/69 0%
6/699 1%

Mutation Distribution

Where CDH1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CDH1 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

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 1,198 mutations in CDH1

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