RABEP2

Rabaptin, RAB GTPase binding effector protein 2 Q9H5N1 RABE2_HUMAN
Protein Coding Chr 16 16p11.2 Swiss-Prot reviewed Entrez 79874
Mutations
872
CL 129 · Tissue 730
Samples
320
CL 67 · Tissue 248
Peptides
265
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
Mutations872129730
Samples32067248
Peptides26547225

Function

RABEP2 · Rabaptin, RAB GTPase binding effector protein 2

Predicted to enable GTPase activator activity and growth factor activity. Involved in regulation of cilium assembly. Located in cytosol; intracellular membrane-bounded organelle; and microtubule organizing center. [provided by Alliance of Genome Resources, Apr 2022]

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
ENST00000358201 Q9H5N1 333 240
ENST00000357573 Q9H5N1-2 271 206
ENST00000544477 B4DHR0* 268 202

Gene Properties

Type
Protein Coding
Chromosome
16
Cytoband
16p11.2
Entrez ID
Aliases
FRA

Recurrent Mutations

All 240 amino-acid changes on canonical ENST00000358201 · 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 RABEP2 · 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 RABEP2 – 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
4/40 10%
0/0 0%
Oral Cavity Carcinoma
3/54 6%
0/0 0%
Endometrial Carcinoma
5/42 12%
16/612 3%
Thymic Epithelial Tumor
0/0 0%
1/39 3%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Glioblastoma
2/98 2%
0/0 0%
Germ Cell Tumour
2/25 8%
1/169 1%
Melanoma
5/210 2%
27/1899 1%
Gastric Carcinoma
2/74 3%
24/1809 1%
Thyroid Gland Carcinoma
1/45 2%
20/1592 1%
Non-Small Cell Lung Carcinoma
5/304 2%
16/1390 1%
Esophageal Squamous Cell Carcinoma
2/51 4%
22/2550 1%
Colorectal Carcinoma
8/143 6%
23/3239 1%
Cervical Carcinoma
0/35 0%
4/422 1%
Squamous Cell Lung Carcinoma
0/57 0%
7/810 1%
Other Solid Cancers
3/94 3%
10/1515 1%
Bladder Carcinoma
0/58 0%
8/956 1%
Glioma
0/52 0%
17/2127 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Ewings Sarcoma
1/63 2%
1/262 0%
Hepatocellular Carcinoma
2/46 4%
10/2210 0%
Rhabdomyosarcoma
1/33 3%
0/171 0%
Ovarian Carcinoma
3/109 3%
2/998 0%
Breast Carcinoma
5/144 3%
10/3264 0%
Neuroendocrine Tumour
3/154 2%
0/577 0%
Other Sarcomas
0/69 0%
3/699 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Prostate Carcinoma
3/13 23%
4/2105 0%
Non-Cancerous
1/104 1%
2/830 0%
Pancreatic Carcinoma
0/89 0%
5/1611 0%

Mutation Distribution

Where RABEP2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in RABEP2 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 872 mutations in RABEP2

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