CPNE1

Copine 1 Q99829 CPNE1_HUMAN
Protein Coding Chr 20 20q11.22 Swiss-Prot reviewed Entrez 8904
Mutations
766
CL 123 · Tissue 634
Samples
268
CL 60 · Tissue 203
Peptides
240
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
Mutations766123634
Samples26860203
Peptides24039203

Function

CPNE1 · Copine 1

Calcium-dependent membrane-binding proteins may regulate molecular events at the interface of the cell membrane and cytoplasm. This gene encodes a calcium-dependent protein that also contains two N-terminal type II C2 domains and an integrin A domain-like sequence in the C-terminus. However, the encoded protein does not contain a predicted signal sequence or transmembrane domains. This protein has a broad tissue distribution and it may function in membrane trafficking. This gene and the gene for RNA binding motif protein 12 overlap at map location 20q11.21. Alternate splicing results in multiple transcript variants encoding different proteins. [provided by RefSeq, Aug 2008].

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
ENST00000352393 Q99829 256 212
ENST00000317677 B0QZ18* 254 211
ENST00000397442 A6PVH9* 225 186
ENST00000397443 Q99829 31 29

Gene Properties

Type
Protein Coding
Chromosome
20
Cytoband
20q11.22
Entrez ID
Aliases
COPN1CPN1

Recurrent Mutations

All 212 amino-acid changes on canonical ENST00000352393 · 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 CPNE1 · 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 CPNE1 – 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
T-Lymphoblastic Leukemia
2/40 5%
0/0 0%
Endometrial Carcinoma
2/42 5%
14/612 2%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Glioblastoma
2/98 2%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Bladder Carcinoma
2/58 3%
13/956 1%
Melanoma
3/210 1%
25/1899 1%
Non-Small Cell Lung Carcinoma
8/304 3%
12/1390 1%
Gastric Carcinoma
0/74 0%
21/1809 1%
Colorectal Carcinoma
14/143 10%
22/3239 1%
Germ Cell Tumour
0/25 0%
2/169 1%
Other Solid Cancers
3/94 3%
13/1515 1%
Burkitts Lymphoma
1/32 3%
1/196 1%
Cervical Carcinoma
0/35 0%
4/422 1%
Head and Neck Carcinoma
0/85 0%
9/1574 1%
Esophageal Carcinoma
0/23 0%
4/769 1%
Hepatocellular Carcinoma
2/46 4%
9/2210 0%
Osteosarcoma
0/45 0%
1/166 1%
Squamous Cell Lung Carcinoma
2/57 4%
2/810 0%
Ovarian Carcinoma
4/109 4%
1/998 0%
Breast Carcinoma
7/144 5%
8/3264 0%
Neuroendocrine Tumour
0/154 0%
3/577 1%
Biliary Tract Carcinoma
0/54 0%
4/950 0%
Other Sarcomas
0/69 0%
3/699 0%
Meningioma
0/3 0%
1/252 0%
Glioma
1/52 2%
7/2127 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
7/2550 0%
Thyroid Gland Carcinoma
0/45 0%
4/1592 0%
Medulloblastoma
0/0 0%
1/450 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
4/2534 0%

Mutation Distribution

Where CPNE1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CPNE1 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 766 mutations in CPNE1

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