PITX1

Paired like homeodomain 1 P78337 PITX1_HUMAN
Protein Coding Chr 5 5q31.1 Swiss-Prot reviewed Entrez 5307
Mutations
353
CL 89 · Tissue 250
Samples
191
CL 64 · Tissue 122
Peptides
134
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
Mutations35389250
Samples19164122
Peptides1343897

Function

PITX1 · Paired like homeodomain 1

This gene encodes a member of the RIEG/PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family are involved in organ development and left-right asymmetry. This protein acts as a transcriptional regulator involved in basal and hormone-regulated activity of prolactin. [provided by RefSeq, Jul 2008].

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
ENST00000265340 P78337 200 134
ENST00000506438 P78337 153 115

Gene Properties

Type
Protein Coding
Chromosome
5
Cytoband
5q31.1
Entrez ID
Aliases
BFTCCFPOTXPTX1

Recurrent Mutations

All 134 amino-acid changes on canonical ENST00000265340 · 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 PITX1 · 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 PITX1 – 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%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Endometrial Carcinoma
6/42 14%
9/612 1%
Gastrointestinal Stromal Tumour
0/0 0%
3/133 2%
Non-Small Cell Lung Carcinoma
12/304 4%
8/1390 1%
Colorectal Carcinoma
11/143 8%
23/3239 1%
Gastric Carcinoma
2/74 3%
15/1809 1%
Adrenocortical Carcinoma
0/3 0%
1/112 1%
Plasma Cell Myeloma
3/44 7%
0/305 0%
Melanoma
0/210 0%
17/1899 1%
Ovarian Carcinoma
4/109 4%
3/998 0%
Non-Cancerous
1/104 1%
4/830 0%
Bladder Carcinoma
1/58 2%
4/956 0%
Squamous Cell Lung Carcinoma
0/57 0%
4/810 0%
Mesothelioma
1/62 2%
0/165 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Hepatocellular Carcinoma
0/46 0%
7/2210 0%
Neuroendocrine Tumour
2/154 1%
0/577 0%
Other Solid Cancers
0/94 0%
4/1515 0%
B-Cell Non-Hodgkins Lymphoma
3/88 3%
2/2534 0%
Breast Carcinoma
4/144 3%
2/3264 0%
Head and Neck Carcinoma
0/85 0%
3/1574 0%
B-Lymphoblastic Leukemia
3/55 5%
1/2640 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
3/2550 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Pancreatic Carcinoma
0/89 0%
2/1611 0%
Thyroid Gland Carcinoma
0/45 0%
2/1592 0%
Other Blood Cancers
2/61 3%
1/2725 0%

Mutation Distribution

Where PITX1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PITX1 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 353 mutations in PITX1

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