PBXIP1

PBX homeobox interacting protein 1 Q96AQ6 PBIP1_HUMAN
Protein Coding Chr 1 1q21.3 Swiss-Prot reviewed Entrez 57326
Mutations
757
CL 137 · Tissue 607
Samples
339
CL 81 · Tissue 250
Peptides
296
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
Mutations757137607
Samples33981250
Peptides29658235

Function

PBXIP1 · PBX homeobox interacting protein 1

The protein encoded by this gene interacts with the PBX1 homeodomain protein, inhibiting its transcriptional activation potential by preventing its binding to DNA. The encoded protein, which is primarily cytosolic but can shuttle to the nucleus, also can interact with estrogen receptors alpha and beta and promote the proliferation of breast cancer, brain tumors, and lung cancer. Several transcript variants encoding different isoforms have been found for this gene. More variants exist, but their full-length natures have yet to be determined. [provided by RefSeq, Dec 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
ENST00000368463 Q96AQ6 349 270
ENST00000368465 Q96AQ6-2 292 242
ENST00000368460 Q5T173* 116 98

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1q21.3
Entrez ID
Aliases
HPIP

Recurrent Mutations

All 270 amino-acid changes on canonical ENST00000368463 · 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 PBXIP1 · 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 PBXIP1 – 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
2/40 5%
0/0 0%
Glioblastoma
3/98 3%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
4/133 3%
Endometrial Carcinoma
3/42 7%
16/612 3%
Hodgkins Lymphoma
4/16 25%
0/122 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Non-Small Cell Lung Carcinoma
11/304 4%
18/1390 1%
Colorectal Carcinoma
15/143 10%
41/3239 1%
Melanoma
2/210 1%
26/1899 1%
Chondrosarcoma
0/14 0%
1/75 1%
Cervical Carcinoma
2/35 6%
3/422 1%
Germ Cell Tumour
0/25 0%
2/169 1%
Gastric Carcinoma
0/74 0%
19/1809 1%
Ovarian Carcinoma
6/109 6%
5/998 0%
Neuroendocrine Tumour
6/154 4%
1/577 0%
Burkitts Lymphoma
0/32 0%
2/196 1%
Other Solid Cancers
0/94 0%
14/1515 1%
Squamous Cell Lung Carcinoma
0/57 0%
7/810 1%
Small Cell Lung Carcinoma
1/9 11%
5/752 1%
Bladder Carcinoma
2/58 3%
5/956 1%
Glioma
1/52 2%
14/2127 1%
Non-Cancerous
0/104 0%
6/830 1%
Pancreatic Carcinoma
2/89 2%
8/1611 0%
Breast Carcinoma
7/144 5%
11/3264 0%
Biliary Tract Carcinoma
1/54 2%
4/950 0%
Osteosarcoma
1/45 2%
0/166 0%
Mesothelioma
0/62 0%
1/165 1%
Head and Neck Carcinoma
1/85 1%
6/1574 0%
Hepatocellular Carcinoma
0/46 0%
9/2210 0%

Mutation Distribution

Where PBXIP1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PBXIP1 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 757 mutations in PBXIP1

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