CDC42SE1

CDC42 small effector 1 Q9NRR8 C42S1_HUMAN
Protein Coding Chr 1 1q21.3 Swiss-Prot reviewed Entrez 56882
Mutations
98
CL 11 · Tissue 87
Samples
34
CL 5 · Tissue 29
Peptides
26
unique mutant peptides
Transcripts
3
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
Mutations981187
Samples34529
Peptides26422

Function

CDC42SE1 · CDC42 small effector 1

Predicted to enable GTPase inhibitor activity. Predicted to be involved in signal transduction. Located in cell junction. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

3 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
ENST00000357235 Q9NRR8 34 26
ENST00000439374 Q9NRR8 32 25
ENST00000540998 Q9NRR8 32 25

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1q21.3
Entrez ID
Aliases
SCIP1SPEC1

Recurrent Mutations

All 26 amino-acid changes on canonical ENST00000357235 · 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 CDC42SE1 · 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 CDC42SE1 – 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
1/40 2%
0/0 0%
Burkitts Lymphoma
2/32 6%
0/196 0%
Osteosarcoma
0/45 0%
1/166 1%
Endometrial Carcinoma
0/42 0%
2/612 0%
Plasma Cell Myeloma
1/44 2%
0/305 0%
Other Sarcomas
0/69 0%
2/699 0%
Thyroid Gland Carcinoma
0/45 0%
4/1592 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Colorectal Carcinoma
0/143 0%
5/3239 0%
Squamous Cell Lung Carcinoma
0/57 0%
1/810 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
Bladder Carcinoma
0/58 0%
1/956 0%
Ovarian Carcinoma
0/109 0%
1/998 0%
Melanoma
0/210 0%
2/1899 0%
Other Solid Cancers
0/94 0%
1/1515 0%
Head and Neck Carcinoma
1/85 1%
0/1574 0%
Non-Small Cell Lung Carcinoma
0/304 0%
1/1390 0%
Pancreatic Carcinoma
0/89 0%
1/1611 0%
Glioma
0/52 0%
1/2127 0%
Gastric Carcinoma
0/74 0%
1/1809 0%
Hepatocellular Carcinoma
0/46 0%
1/2210 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
1/2550 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
1/2534 0%

Mutation Distribution

Where CDC42SE1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CDC42SE1 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 98 mutations in CDC42SE1

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