PIGQ

Phosphatidylinositol glycan anchor biosynthesis class Q Q9BRB3 PIGQ_HUMAN
Protein Coding Chr 16 16p13.3 Swiss-Prot reviewed Entrez 9091
Mutations
1,197
CL 143 · Tissue 1,033
Samples
387
CL 73 · Tissue 306
Peptides
318
unique mutant peptides
Transcripts
5
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
Mutations1,1971431,033
Samples38773306
Peptides31857258

Function

PIGQ · Phosphatidylinositol glycan anchor biosynthesis class Q

This gene is involved in the first step in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a N-acetylglucosaminyl transferase component that is part of the complex that catalyzes transfer of N-acetylglucosamine (GlcNAc) from UDP-GlcNAc to phosphatidylinositol (PI). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2012].

Isoforms & Proteins

5 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
ENST00000026218 Q9BRB3 392 258
ENST00000321878 Q9BRB3-2 293 200
ENST00000409527 Q9BRB3-2 258 182
ENST00000422307 B8ZZ31* 136 91
ENST00000470411 Q9BRB3-3 118 83

Gene Properties

Type
Protein Coding
Chromosome
16
Cytoband
16p13.3
Entrez ID
Aliases
DEE77EIEE77GPI1GPIBD19MCAHS4c407A10.1

Recurrent Mutations

All 258 amino-acid changes on canonical ENST00000026218 · 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 PIGQ · 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 PIGQ – 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
8/40 20%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
5/133 4%
Endometrial Carcinoma
6/42 14%
14/612 2%
Melanoma
11/210 5%
32/1899 2%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Colorectal Carcinoma
9/143 6%
50/3239 2%
Gastric Carcinoma
6/74 8%
23/1809 1%
Cervical Carcinoma
2/35 6%
5/422 1%
Bladder Carcinoma
1/58 2%
14/956 1%
Hodgkins Lymphoma
0/16 0%
2/122 2%
Non-Small Cell Lung Carcinoma
7/304 2%
14/1390 1%
Chondrosarcoma
1/14 7%
0/75 0%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Neuroendocrine Tumour
4/154 3%
4/577 1%
Other Sarcomas
0/69 0%
8/699 1%
Other Solid Cancers
0/94 0%
16/1515 1%
Rhabdomyosarcoma
0/33 0%
2/171 1%
Ewings Sarcoma
2/63 3%
1/262 0%
Mesothelioma
2/62 3%
0/165 0%
Squamous Cell Lung Carcinoma
0/57 0%
7/810 1%
Thyroid Gland Carcinoma
0/45 0%
11/1592 1%
Hepatocellular Carcinoma
1/46 2%
14/2210 1%
Head and Neck Carcinoma
0/85 0%
10/1574 1%
Non-Cancerous
0/104 0%
5/830 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Prostate Carcinoma
0/13 0%
11/2105 1%
Esophageal Carcinoma
1/23 4%
3/769 0%
Biliary Tract Carcinoma
0/54 0%
5/950 1%
Pancreatic Carcinoma
0/89 0%
8/1611 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in PIGQ 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 1,197 mutations in PIGQ

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