RASEF

RAS and EF-hand domain containing Q8IZ41 RASEF_HUMAN
Protein Coding Chr 9 9q21.32 Swiss-Prot reviewed Entrez 158158
Mutations
472
CL 90 · Tissue 374
Samples
410
CL 85 · Tissue 319
Peptides
312
unique mutant peptides
Transcripts
2
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
Mutations47290374
Samples41085319
Peptides31264255

Function

RASEF · RAS and EF-hand domain containing

This gene is a member of the Rab family of GTPases that are involved in regulation of membrane traffic. The encoded protein contains an N-terminal EF-hand domain, a coiled-coil motif and a C-terminal Rab domain. A potential role as tumor suppressor has been indicated for this gene. [provided by RefSeq, Nov 2012].

Isoforms & Proteins

2 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
ENST00000376447 Q8IZ41 407 295
ENST00000340717 Q8IZ41-2 65 42

Gene Properties

Type
Protein Coding
Chromosome
9
Cytoband
9q21.32
Entrez ID
Aliases
RAB45TSG

Recurrent Mutations

All 295 amino-acid changes on canonical ENST00000376447 · 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 RASEF · 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 RASEF – 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-Cell Non-Hodgkins Lymphoma
3/26 12%
0/0 0%
T-Lymphoblastic Leukemia
3/40 8%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
6/133 5%
Glioblastoma
3/98 3%
0/0 0%
Hodgkins Lymphoma
0/16 0%
4/122 3%
Unknown
0/10 0%
1/29 3%
Melanoma
4/210 2%
49/1899 3%
Endometrial Carcinoma
3/42 7%
10/612 2%
Bladder Carcinoma
1/58 2%
18/956 2%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Colorectal Carcinoma
8/143 6%
44/3239 1%
Non-Small Cell Lung Carcinoma
10/304 3%
10/1390 1%
Other Solid Cancers
3/94 3%
16/1515 1%
Chondrosarcoma
0/14 0%
1/75 1%
Thyroid Gland Carcinoma
2/45 4%
14/1592 1%
Rhabdomyosarcoma
1/33 3%
1/171 1%
Neuroendocrine Tumour
0/154 0%
7/577 1%
Cervical Carcinoma
0/35 0%
4/422 1%
Plasma Cell Myeloma
3/44 7%
0/305 0%
Esophageal Squamous Cell Carcinoma
3/51 6%
19/2550 1%
Breast Carcinoma
4/144 3%
24/3264 1%
Squamous Cell Lung Carcinoma
0/57 0%
7/810 1%
Gastric Carcinoma
3/74 4%
11/1809 1%
Biliary Tract Carcinoma
2/54 4%
5/950 1%
Ovarian Carcinoma
3/109 3%
4/998 0%
Ewings Sarcoma
0/63 0%
2/262 1%
B-Cell Non-Hodgkins Lymphoma
5/88 6%
10/2534 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Other Sarcomas
2/69 3%
2/699 0%
Glioma
1/52 2%
10/2127 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in RASEF 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 472 mutations in RASEF

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