SSPN

Sarcospan Q14714 SSPN_HUMAN
Protein Coding Chr 12 12p12.1 Swiss-Prot reviewed Entrez 8082
Mutations
315
CL 78 · Tissue 221
Samples
114
CL 34 · Tissue 72
Peptides
97
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
Mutations31578221
Samples1143472
Peptides972573

Function

SSPN · Sarcospan

This gene encodes a member of the dystrophin-glycoprotein complex (DGC). The DGC spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Two alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Oct 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
ENST00000242729 Q14714 119 78
ENST00000422622 Q14714-3 77 57
ENST00000540266 Q14714-3 77 57
ENST00000535504 F5H0K2* 42 29

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12p12.1
Entrez ID
Aliases
DAGA5KRAGNSPNSPN1SPN2

Recurrent Mutations

All 78 amino-acid changes on canonical ENST00000242729 · 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 SSPN · 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 SSPN – 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
3/40 8%
0/0 0%
Hodgkins Lymphoma
2/16 12%
0/122 0%
Glioblastoma
1/98 1%
0/0 0%
Endometrial Carcinoma
2/42 5%
4/612 1%
Colorectal Carcinoma
9/143 6%
17/3239 1%
Non-Small Cell Lung Carcinoma
5/304 2%
6/1390 0%
Squamous Cell Lung Carcinoma
2/57 4%
3/810 0%
Melanoma
0/210 0%
10/1899 1%
Thyroid Gland Carcinoma
0/45 0%
6/1592 0%
Head and Neck Carcinoma
1/85 1%
4/1574 0%
Gastric Carcinoma
0/74 0%
5/1809 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Glioma
0/52 0%
5/2127 0%
Non-Cancerous
2/104 2%
0/830 0%
Bladder Carcinoma
0/58 0%
2/956 0%
Other Solid Cancers
0/94 0%
3/1515 0%
Ovarian Carcinoma
1/109 1%
1/998 0%
Neuroblastoma
2/87 2%
0/1331 0%
Neuroendocrine Tumour
0/154 0%
1/577 0%
Other Sarcomas
0/69 0%
1/699 0%
Hepatocellular Carcinoma
0/46 0%
3/2210 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
3/2550 0%
Biliary Tract Carcinoma
0/54 0%
1/950 0%
B-Lymphoblastic Leukemia
2/55 4%
0/2640 0%
Breast Carcinoma
1/144 1%
1/3264 0%
Pancreatic Carcinoma
1/89 1%
0/1611 0%
Kidney Carcinoma
0/85 0%
1/1862 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
1/2534 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in SSPN 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 315 mutations in SSPN

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