SEPTIN4

Septin 4 O43236 SEPT4_HUMAN
Protein Coding Chr 17 17q22 Swiss-Prot reviewed Entrez 5414
Mutations
60
CL 53 · Tissue 0
Samples
55
CL 50 · Tissue 0
Peptides
56
unique mutant peptides
Transcripts
2
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
Mutations60530
Samples55500
Peptides56490

Function

SEPTIN4 · Septin 4

This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. This gene is highly expressed in brain and heart. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. One of the isoforms (known as ARTS) is distinct; it is localized to the mitochondria, and has a role in apoptosis and cancer. [provided by RefSeq, Nov 2010].

Isoforms & Proteins

2 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
ENST00000672673 O43236 53 49
ENST00000317268 O43236-1 7 7

Gene Properties

Type
Protein Coding
Chromosome
17
Cytoband
17q22
Entrez ID
Aliases
ARTSBRADEIONC17orf47CE5B3H5MART

Recurrent Mutations

All 49 amino-acid changes on canonical ENST00000672673 · 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 SEPTIN4 · 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 SEPTIN4 – 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
Chordoma
1/7 14%
0/13 0%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Endometrial Carcinoma
6/42 14%
1/612 0%
Glioblastoma
1/98 1%
0/0 0%
Neuroendocrine Tumour
3/154 2%
0/577 0%
Colorectal Carcinoma
9/143 6%
1/3239 0%
Neuroblastoma
4/87 5%
0/1331 0%
Non-Small Cell Lung Carcinoma
3/304 1%
1/1390 0%
Non-Cancerous
2/104 2%
0/830 0%
Gastric Carcinoma
2/74 3%
1/1809 0%
Melanoma
3/210 1%
0/1899 0%
Squamous Cell Lung Carcinoma
1/57 2%
0/810 0%
Head and Neck Carcinoma
2/85 2%
0/1574 0%
Bladder Carcinoma
0/58 0%
1/956 0%
Breast Carcinoma
3/144 2%
0/3264 0%
B-Cell Non-Hodgkins Lymphoma
2/88 2%
0/2534 0%
Pancreatic Carcinoma
1/89 1%
0/1611 0%
Other Solid Cancers
1/94 1%
0/1515 0%
Prostate Carcinoma
1/13 8%
0/2105 0%
Kidney Carcinoma
1/85 1%
0/1862 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
0/2550 0%
B-Lymphoblastic Leukemia
1/55 2%
0/2640 0%

Mutation Distribution

Where SEPTIN4 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SEPTIN4 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.

Mutations

All 60 mutations in SEPTIN4

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