PIWIL1

Piwi like RNA-mediated gene silencing 1 Q96J94 PIWL1_HUMAN
Protein Coding Chr 12 12q24.33 Swiss-Prot reviewed Entrez 9271
Mutations
657
CL 104 · Tissue 547
Samples
598
CL 92 · Tissue 500
Peptides
434
unique mutant peptides
Transcripts
1
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
Mutations657104547
Samples59892500
Peptides43462382

Function

PIWIL1 · Piwi like RNA-mediated gene silencing 1

This gene encodes a member of the PIWI subfamily of Argonaute proteins, evolutionarily conserved proteins containing both PAZ and Piwi motifs that play important roles in stem cell self-renewal, RNA silencing, and translational regulation in diverse organisms. The encoded protein may play a role as an intrinsic regulator of the self-renewal capacity of germline and hematopoietic stem cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010].

Isoforms & Proteins

1 transcript · 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
ENST00000245255 Q96J94 657 434

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12q24.33
Entrez ID
Aliases
CT80.1HIWIMIWIPIWI

Recurrent Mutations

All 434 amino-acid changes on canonical ENST00000245255 · 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 PIWIL1 · 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 PIWIL1 – 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-Cell Non-Hodgkins Lymphoma
2/26 8%
0/0 0%
Endometrial Carcinoma
5/42 12%
31/612 5%
Melanoma
10/210 5%
84/1899 4%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Non-Small Cell Lung Carcinoma
12/304 4%
34/1390 2%
Squamous Cell Lung Carcinoma
3/57 5%
20/810 2%
Colorectal Carcinoma
12/143 8%
62/3239 2%
Small Cell Lung Carcinoma
2/9 22%
12/752 2%
Bladder Carcinoma
1/58 2%
17/956 2%
Other Solid Cancers
0/94 0%
27/1515 2%
Gastric Carcinoma
4/74 5%
27/1809 1%
Esophageal Carcinoma
0/23 0%
12/769 2%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Osteosarcoma
2/45 4%
1/166 1%
Other Sarcomas
2/69 3%
8/699 1%
Neuroendocrine Tumour
3/154 2%
6/577 1%
Head and Neck Carcinoma
0/85 0%
19/1574 1%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Cervical Carcinoma
1/35 3%
4/422 1%
Ovarian Carcinoma
4/109 4%
8/998 1%
Breast Carcinoma
2/144 1%
33/3264 1%
Biliary Tract Carcinoma
1/54 2%
9/950 1%
Rhabdomyosarcoma
0/33 0%
2/171 1%
Ewings Sarcoma
2/63 3%
1/262 0%
Pancreatic Carcinoma
4/89 4%
9/1611 1%
Non-Cancerous
5/104 5%
2/830 0%
Thyroid Gland Carcinoma
4/45 9%
8/1592 0%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Hepatocellular Carcinoma
2/46 4%
14/2210 1%
Glioma
0/52 0%
13/2127 1%

Mutation Distribution

Where PIWIL1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in PIWIL1 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 36 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 657 mutations in PIWIL1

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