SGCE Sarcoglycan epsilon O43556 SGCE_HUMAN
Protein Coding Chr 7 7q21.3 Swiss-Prot reviewed Entrez 8910
Mutations
7,481
CL 625 · Tissue 6,688
Samples
269
CL 41 · Tissue 223
Peptides
287
unique mutant peptides
Transcripts
34
isoforms mutated

Stats by Source

Global, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)

How the counts split by source
Stats by Source

Global = all mutations for this gene across every source.

Cell line = COSMIC Cell Lines Project + DepMap + PubMed.

Tissue = COSMIC primary-tissue (patient tumour) samples.

Global can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.

GlobalCell lineTissue
Mutations7,4816256,688
Samples26941223
Peptides28738251

Function

SGCE · Sarcoglycan epsilon

This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016].

Isoforms & Proteins

34 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
ENST00000647096 A0A2R8Y504* 245 178
ENST00000642707 A0A2R8YE48* 241 175
ENST00000646943 A0A2R8Y5R7* 241 172
ENST00000648936 O43556 240 171
ENST00000644116 A0A2R8Y652* 237 169
ENST00000445866 O43556-4 235 169
ENST00000646489 A0A2R8YGQ3* 230 174
ENST00000415788 B7Z2R4* 228 172
ENST00000645101 A0A2R8YFA5* 228 173
ENST00000647351 A0A2R8Y5M2* 228 170
ENST00000644122 A0A2R8Y638* 227 169
ENST00000643272 A0A2R8Y5J3* 226 171
ENST00000644816 A0A2R8Y5X5* 226 168
ENST00000645109 A0A2R8Y4E3* 226 170
ENST00000647018 A0A2R8Y4E3* 226 170
ENST00000642441 A0A2R8YEY2* 224 167
ENST00000642933 O43556-3 222 165
ENST00000644375 A0A2R8YD68* 222 165
ENST00000644551 A0A2R8Y4P8* 222 167
ENST00000644609 A0A2R8Y7J1* 221 164
ENST00000646137 A0A2R8Y621* 221 164
ENST00000643193 A0A2R8YH84* 220 164
ENST00000645725 A0A2R8Y6U6* 218 164
ENST00000428696 A0A2U3TZN7* 217 160
ENST00000447873 C9JR67* 216 162
ENST00000643128 A0A2R8Y821* 216 161
ENST00000646098 A0A2R8Y6V3* 215 160
ENST00000646879 A0A2R8Y628* 214 160
ENST00000643903 A0A2R8YE16* 212 158
ENST00000645262 A0A2R8YE99* 199 147
ENST00000437425 E9PEH6* 197 147
ENST00000642394 A0A2R8Y448* 193 144
ENST00000644681 A0A2R8Y7Q5* 174 127
ENST00000645535 A0A2R8Y7Q5* 174 127

Gene Properties

Type
Protein Coding
Chromosome
7
Cytoband
7q21.3
Entrez ID
8910
Aliases
DYT11ESGepsilon-SG

Recurrent Mutations

Top recurrent amino-acid changes along the protein · needle height = number of mutations

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 Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in SGCE 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 7,481 mutations in SGCE

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 CDSTypeSourcePeptide