RUSC1

RUN and SH3 domain containing 1 Q9BVN2 RUSC1_HUMAN
Protein Coding Chr 1 1q22 Swiss-Prot reviewed Entrez 23623
Mutations
1,394
CL 217 · Tissue 1,174
Samples
402
CL 93 · Tissue 307
Peptides
340
unique mutant peptides
Transcripts
7
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
Mutations1,3942171,174
Samples40293307
Peptides34076271

Function

RUSC1 · RUN and SH3 domain containing 1

Predicted to enable actin binding activity. Involved in protein polyubiquitination. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]

Isoforms & Proteins

7 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
ENST00000368352 Q9BVN2 401 299
ENST00000368354 Q9BVN2-4 305 244
ENST00000368347 Q9BVN2-3 201 164
ENST00000292254 Q9BVN2-2 164 132
ENST00000368349 Q9BVN2-2 164 132
ENST00000490373 A0A087X1B4* 101 77
ENST00000471876 A0A087WZ68* 58 48

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1q22
Entrez ID
Aliases
NESCA

Recurrent Mutations

All 299 amino-acid changes on canonical ENST00000368352 · 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 RUSC1 · 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 RUSC1 – 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
10/40 25%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Endometrial Carcinoma
7/42 17%
17/612 3%
Cervical Carcinoma
2/35 6%
7/422 2%
Gastric Carcinoma
0/74 0%
33/1809 2%
Bladder Carcinoma
1/58 2%
15/956 2%
Melanoma
8/210 4%
25/1899 1%
Hodgkins Lymphoma
2/16 12%
0/122 0%
Colorectal Carcinoma
12/143 8%
29/3239 1%
Thyroid Gland Carcinoma
0/45 0%
19/1592 1%
Other Solid Cancers
1/94 1%
17/1515 1%
Glioblastoma
1/98 1%
0/0 0%
Non-Small Cell Lung Carcinoma
5/304 2%
12/1390 1%
Ovarian Carcinoma
2/109 2%
9/998 1%
Squamous Cell Lung Carcinoma
2/57 4%
6/810 1%
Esophageal Squamous Cell Carcinoma
1/51 2%
20/2550 1%
Other Sarcomas
0/69 0%
6/699 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Biliary Tract Carcinoma
2/54 4%
5/950 1%
Breast Carcinoma
3/144 2%
18/3264 1%
Ewings Sarcoma
0/63 0%
2/262 1%
Prostate Carcinoma
0/13 0%
13/2105 1%
Pancreatic Carcinoma
5/89 6%
5/1611 0%
Head and Neck Carcinoma
0/85 0%
9/1574 1%
Hepatocellular Carcinoma
4/46 9%
8/2210 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Esophageal Carcinoma
0/23 0%
4/769 1%
Rhabdomyosarcoma
1/33 3%
0/171 0%
Non-Cancerous
1/104 1%
3/830 0%

Mutation Distribution

Where RUSC1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in RUSC1 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 1,394 mutations in RUSC1

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