VBP1

VHL binding protein 1 P61758 PFD3_HUMAN
Protein Coding Chr X Xq28 Swiss-Prot reviewed Entrez 7411
Mutations
245
CL 35 · Tissue 205
Samples
98
CL 19 · Tissue 77
Peptides
80
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
Mutations24535205
Samples981977
Peptides801069

Function

VBP1 · VHL binding protein 1

The protein encoded by this gene interacts with the Von Hippel-Lindau protein to form an intracellular complex. The encoded protein functions as a chaperone protein, and may play a role in the transport of the Von Hippel-Lindau protein from the perinuclear granules to the nucleus or cytoplasm. Alternative splicing and the use of alternate transcription start sites results in multiple transcript variants encoding different protein isoforms. [provided by RefSeq, Jan 2015].

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
ENST00000286428 P61758 101 75
ENST00000535916 P61758-2 72 59
ENST00000625964 P61758-2 72 59

Gene Properties

Type
Protein Coding
Chromosome
X
Cytoband
Xq28
Entrez ID
Aliases
HIBBJ46PFD3PFDN3VBP-1

Recurrent Mutations

All 75 amino-acid changes on canonical ENST00000286428 · 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 VBP1 · 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 VBP1 – 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
Unknown
0/10 0%
1/29 3%
Endometrial Carcinoma
1/42 2%
15/612 2%
Other Solid Cancers
0/94 0%
10/1515 1%
Non-Small Cell Lung Carcinoma
5/304 2%
4/1390 0%
Melanoma
2/210 1%
9/1899 0%
Colorectal Carcinoma
4/143 3%
11/3239 0%
Cervical Carcinoma
2/35 6%
0/422 0%
Squamous Cell Lung Carcinoma
0/57 0%
3/810 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Neuroendocrine Tumour
2/154 1%
0/577 0%
Hepatocellular Carcinoma
0/46 0%
6/2210 0%
Other Sarcomas
2/69 3%
0/699 0%
Ovarian Carcinoma
1/109 1%
1/998 0%
Gastric Carcinoma
0/74 0%
3/1809 0%
Prostate Carcinoma
0/13 0%
3/2105 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
3/2550 0%
Thyroid Gland Carcinoma
0/45 0%
2/1592 0%
Non-Cancerous
0/104 0%
1/830 0%
Bladder Carcinoma
0/58 0%
1/956 0%
Breast Carcinoma
0/144 0%
3/3264 0%
Pancreatic Carcinoma
0/89 0%
1/1611 0%
Glioma
0/52 0%
1/2127 0%

Mutation Distribution

Where VBP1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in VBP1 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 245 mutations in VBP1

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