SMARCD3

SWI/SNF related BAF chromatin remodeling complex subunit D3 Q6STE5 SMRD3_HUMAN
Protein Coding Chr 7 7q36.1 Swiss-Prot reviewed Entrez 6604
Mutations
566
CL 110 · Tissue 437
Samples
232
CL 54 · Tissue 168
Peptides
163
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
Mutations566110437
Samples23254168
Peptides16336123

Function

SMARCD3 · SWI/SNF related BAF chromatin remodeling complex subunit D3

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008].

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
ENST00000262188 Q6STE5 239 158
ENST00000356800 Q6STE5-2 164 140
ENST00000392811 Q6STE5-2 163 139

Gene Properties

Type
Protein Coding
Chromosome
7
Cytoband
7q36.1
Entrez ID
Aliases
BAF60CCRACD3Rsc6p

Recurrent Mutations

All 160 amino-acid changes on canonical ENST00000262188 · 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 SMARCD3 · 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 SMARCD3 – 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
Endometrial Carcinoma
5/42 12%
14/612 2%
T-Lymphoblastic Leukemia
1/40 2%
0/0 0%
Other Solid Cancers
1/94 1%
33/1515 2%
Hodgkins Lymphoma
2/16 12%
0/122 0%
Colorectal Carcinoma
12/143 8%
29/3239 1%
Melanoma
5/210 2%
19/1899 1%
Gastric Carcinoma
5/74 7%
11/1809 1%
Non-Small Cell Lung Carcinoma
6/304 2%
4/1390 0%
Bladder Carcinoma
2/58 3%
4/956 0%
Ovarian Carcinoma
1/109 1%
5/998 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Burkitts Lymphoma
0/32 0%
1/196 1%
Cervical Carcinoma
1/35 3%
1/422 0%
Mesothelioma
1/62 2%
0/165 0%
Head and Neck Carcinoma
1/85 1%
6/1574 0%
Neuroendocrine Tumour
3/154 2%
0/577 0%
Hepatocellular Carcinoma
0/46 0%
9/2210 0%
Glioma
0/52 0%
8/2127 0%
Non-Cancerous
0/104 0%
3/830 0%
Thyroid Gland Carcinoma
1/45 2%
3/1592 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
6/2534 0%
Squamous Cell Lung Carcinoma
0/57 0%
2/810 0%
Medulloblastoma
0/0 0%
1/450 0%
Wilms Tumour
0/5 0%
1/474 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
4/2550 0%
B-Lymphoblastic Leukemia
5/55 9%
0/2640 0%
Breast Carcinoma
0/144 0%
5/3264 0%
Small Cell Lung Carcinoma
0/9 0%
1/752 0%
Other Sarcomas
0/69 0%
1/699 0%
Esophageal Carcinoma
0/23 0%
1/769 0%

Mutation Distribution

Where SMARCD3 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in SMARCD3 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 566 mutations in SMARCD3

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