PROM1

Prominin 1 O43490 PROM1_HUMAN
Protein Coding Chr 4 4p15.32 Swiss-Prot reviewed Entrez 8842
Mutations
1,717
CL 344 · Tissue 1,365
Samples
355
CL 100 · Tissue 252
Peptides
307
unique mutant peptides
Transcripts
7
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
Mutations1,7173441,365
Samples355100252
Peptides30776237

Function

PROM1 · Prominin 1

This gene encodes a pentaspan transmembrane glycoprotein. The protein localizes to membrane protrusions and is often expressed on adult stem cells, where it is thought to function in maintaining stem cell properties by suppressing differentiation. Mutations in this gene have been shown to result in retinitis pigmentosa and Stargardt disease. Expression of this gene is also associated with several types of cancer. This gene is expressed from at least five alternative promoters that are expressed in a tissue-dependent manner. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009].

Isoforms & Proteins

7 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
ENST00000447510 O43490 379 282
ENST00000510224 O43490 327 263
ENST00000505450 O43490-2 324 260
ENST00000508167 O43490-2 324 260
ENST00000539194 O43490-6 318 257
ENST00000540805 O43490-4 44 38
ENST00000675377 O43490-7 1 1

Gene Properties

Type
Protein Coding
Chromosome
4
Cytoband
4p15.32
Entrez ID
Aliases
AC133CD133CORD12MCDR2MSTP061PROML1

Recurrent Mutations

All 282 amino-acid changes on canonical ENST00000447510 · 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 PROM1 · 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 PROM1 – 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%
Chordoma
0/7 0%
1/13 8%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Endometrial Carcinoma
3/42 7%
19/612 3%
Glioblastoma
3/98 3%
0/0 0%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Melanoma
7/210 3%
30/1899 2%
Rhabdomyosarcoma
2/33 6%
1/171 1%
Cervical Carcinoma
1/35 3%
5/422 1%
Non-Small Cell Lung Carcinoma
11/304 4%
9/1390 1%
Squamous Cell Lung Carcinoma
1/57 2%
9/810 1%
Gastric Carcinoma
6/74 8%
15/1809 1%
Other Solid Cancers
0/94 0%
17/1515 1%
Colorectal Carcinoma
11/143 8%
24/3239 1%
Hepatocellular Carcinoma
4/46 9%
19/2210 1%
Thyroid Gland Carcinoma
3/45 7%
12/1592 1%
Small Cell Lung Carcinoma
2/9 22%
5/752 1%
Other Sarcomas
2/69 3%
4/699 1%
Bladder Carcinoma
0/58 0%
7/956 1%
Neuroendocrine Tumour
3/154 2%
2/577 0%
B-Cell Non-Hodgkins Lymphoma
7/88 8%
10/2534 0%
Non-Cancerous
3/104 3%
3/830 0%
Head and Neck Carcinoma
0/85 0%
10/1574 1%
Ovarian Carcinoma
2/109 2%
4/998 0%
Esophageal Squamous Cell Carcinoma
5/51 10%
8/2550 0%
Biliary Tract Carcinoma
0/54 0%
5/950 1%
Glioma
0/52 0%
11/2127 1%
Osteosarcoma
1/45 2%
0/166 0%

Mutation Distribution

Where PROM1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PROM1 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 1,717 mutations in PROM1

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