ROBO2

Roundabout guidance receptor 2 Q9HCK4 ROBO2_HUMAN
Protein Coding Chr 3 3p12.3 Swiss-Prot reviewed Entrez 6092
Mutations
3,434
CL 504 · Tissue 2,870
Samples
1,328
CL 273 · Tissue 1,030
Peptides
1,171
unique mutant peptides
Transcripts
6
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
Mutations3,4345042,870
Samples1,3282731,030
Peptides1,171219994

Function

ROBO2 · Roundabout guidance receptor 2

The protein encoded by this gene belongs to the ROBO family, part of the immunoglobulin superfamily of proteins that are highly conserved from fly to human. The encoded protein is a transmembrane receptor for the slit homolog 2 protein and functions in axon guidance and cell migration. Mutations in this gene are associated with vesicoureteral reflux, characterized by the backward flow of urine from the bladder into the ureters or the kidney. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014].

Isoforms & Proteins

6 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
ENST00000487694 Q9HCK4-3 1,467 1,014
ENST00000461745 Q9HCK4 1,393 965
ENST00000332191 F8W703* 411 260
ENST00000696593 A0A8Q3WLE3* 159 149
ENST00000471893 H7C4U9* 2 2
ENST00000475334 H7C4W9* 2 2

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3p12.3
Entrez ID
Aliases
SAX3

Recurrent Mutations

All 1014 amino-acid changes on canonical ENST00000487694 · 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 ROBO2 · 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 ROBO2 – 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
Chronic Myelogenous Leukemia
4/25 16%
0/0 0%
T-Lymphoblastic Leukemia
6/40 15%
0/0 0%
Melanoma
26/210 12%
174/1899 9%
Glioblastoma
8/98 8%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
2/26 8%
0/0 0%
Endometrial Carcinoma
13/42 31%
36/612 6%
Colorectal Carcinoma
28/143 20%
175/3239 5%
Non-Small Cell Lung Carcinoma
33/304 11%
68/1390 5%
Gastric Carcinoma
16/74 22%
76/1809 4%
Squamous Cell Lung Carcinoma
6/57 11%
28/810 3%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Bladder Carcinoma
9/58 16%
28/956 3%
Acute Myeloid Leukemia
3/90 3%
0/0 0%
Other Solid Cancers
5/94 5%
45/1515 3%
Esophageal Carcinoma
3/23 13%
21/769 3%
Rhabdomyosarcoma
2/33 6%
4/171 2%
Hepatocellular Carcinoma
2/46 4%
61/2210 3%
Germ Cell Tumour
3/25 12%
2/169 1%
Unknown
1/10 10%
0/29 0%
Osteosarcoma
4/45 9%
1/166 1%
Ovarian Carcinoma
14/109 13%
12/998 1%
Hodgkins Lymphoma
1/16 6%
2/122 2%
B-Cell Non-Hodgkins Lymphoma
19/88 22%
37/2534 1%
Non-Cancerous
2/104 2%
18/830 2%
Other Sarcomas
1/69 1%
15/699 2%
Plasma Cell Myeloma
3/44 7%
4/305 1%
Small Cell Lung Carcinoma
0/9 0%
14/752 2%
Head and Neck Carcinoma
1/85 1%
26/1574 2%
Cervical Carcinoma
2/35 6%
4/422 1%
Biliary Tract Carcinoma
2/54 4%
11/950 1%

Mutation Distribution

Where ROBO2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ROBO2 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 53 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 3,434 mutations in ROBO2

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