POU1F1

POU class 1 homeobox 1 P28069 PIT1_HUMAN
Protein Coding Chr 3 3p11.2 Swiss-Prot reviewed Entrez 5449
Mutations
435
CL 86 · Tissue 349
Samples
190
CL 52 · Tissue 138
Peptides
153
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
Mutations43586349
Samples19052138
Peptides15332126

Function

POU1F1 · POU class 1 homeobox 1

This gene encodes a member of the POU family of transcription factors that regulate mammalian development. The protein regulates expression of several genes involved in pituitary development and hormone expression. Mutations in this genes result in combined pituitary hormone deficiency. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].

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
ENST00000350375 P28069 180 119
ENST00000344265 P28069-2 165 124
ENST00000560656 H0YK06* 90 72

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3p11.2
Entrez ID
Aliases
CPHD1GHF-1PIT1POU1F1aPit-1

Recurrent Mutations

All 119 amino-acid changes on canonical ENST00000350375 · 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 POU1F1 · 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 POU1F1 – 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
Endometrial Carcinoma
5/42 12%
9/612 1%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Melanoma
7/210 3%
29/1899 2%
Glioblastoma
1/98 1%
0/0 0%
Non-Small Cell Lung Carcinoma
10/304 3%
7/1390 0%
Squamous Cell Lung Carcinoma
0/57 0%
6/810 1%
Colorectal Carcinoma
3/143 2%
18/3239 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Esophageal Carcinoma
1/23 4%
3/769 0%
Osteosarcoma
0/45 0%
1/166 1%
Glioma
0/52 0%
10/2127 0%
Other Solid Cancers
1/94 1%
6/1515 0%
Gastric Carcinoma
2/74 3%
6/1809 0%
Kidney Carcinoma
3/85 4%
5/1862 0%
Meningioma
1/3 33%
0/252 0%
Esophageal Squamous Cell Carcinoma
4/51 8%
6/2550 0%
B-Cell Non-Hodgkins Lymphoma
4/88 5%
4/2534 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Neuroendocrine Tumour
2/154 1%
0/577 0%
Breast Carcinoma
2/144 1%
6/3264 0%
Hepatocellular Carcinoma
0/46 0%
5/2210 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Medulloblastoma
0/0 0%
1/450 0%
Neuroblastoma
0/87 0%
3/1331 0%
Head and Neck Carcinoma
1/85 1%
2/1574 0%
Other Sarcomas
0/69 0%
1/699 0%
B-Lymphoblastic Leukemia
2/55 4%
1/2640 0%
Bladder Carcinoma
0/58 0%
1/956 0%
Prostate Carcinoma
0/13 0%
2/2105 0%

Mutation Distribution

Where POU1F1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in POU1F1 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 49 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 435 mutations in POU1F1

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