SMARCE1 SWI/SNF related BAF chromatin remodeling complex subunit E1 Q969G3 SMCE1_HUMAN
Protein Coding Chr 17 17q21.2 Swiss-Prot reviewed Entrez 6605
Mutations
2,527
CL 165 · Tissue 2,344
Samples
186
CL 30 · Tissue 155
Peptides
181
unique mutant peptides
Transcripts
20
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
Mutations2,5271652,344
Samples18630155
Peptides18128157

Function

SMARCE1 · SWI/SNF related BAF chromatin remodeling complex subunit E1

The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

20 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
ENST00000348513 Q969G3 174 126
ENST00000643683 Q969G3 159 118
ENST00000431889 B4DGM3* 150 115
ENST00000647508 Q969G3-4 148 111
ENST00000264640 Q969G3-2 144 104
ENST00000447024 Q969G3-2 144 104
ENST00000644701 Q969G3-2 144 104
ENST00000646482 A0A2R8Y855* 142 103
ENST00000578044 Q969G3-3 134 104
ENST00000643318 Q969G3-3 134 104
ENST00000646283 A0A2R8YES3* 134 104
ENST00000377808 Q969G3-5 133 97
ENST00000580419 A0A2U3TZQ7* 132 97
ENST00000645104 A0A2R8Y7I9* 131 96
ENST00000644527 A0A2R8Y4T4* 130 101
ENST00000400122 Q969G3-6 119 90
ENST00000642459 A0A2R8Y7U4* 117 89
ENST00000647515 A0A2R8Y765* 116 88
ENST00000474246 J3QL66* 28 17
ENST00000643806 A0A2R8YDD9* 14 7

Gene Properties

Type
Protein Coding
Chromosome
17
Cytoband
17q21.2
Entrez ID
6605
Aliases
BAF57CSS5

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 SMARCE1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SMARCE1 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 2,527 mutations in SMARCE1

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