GEM

GTP binding protein overexpressed in skeletal muscle P55040 GEM_HUMAN
Protein Coding Chr 8 8q22.1 Swiss-Prot reviewed Entrez 2669
Mutations
414
CL 80 · Tissue 326
Samples
212
CL 50 · Tissue 157
Peptides
142
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
Mutations41480326
Samples21250157
Peptides14229115

Function

GEM · GTP binding protein overexpressed in skeletal muscle

The protein encoded by this gene belongs to the RAD/GEM family of GTP-binding proteins. It is associated with the inner face of the plasma membrane and could play a role as a regulatory protein in receptor-mediated signal transduction. Alternative splicing occurs at this locus and two transcript variants encoding the same protein have been identified. [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
ENST00000297596 P55040 217 141
ENST00000396194 P55040 197 134

Gene Properties

Type
Protein Coding
Chromosome
8
Cytoband
8q22.1
Entrez ID
Aliases
KIR

Recurrent Mutations

All 141 amino-acid changes on canonical ENST00000297596 · 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 GEM · 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 GEM – 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
1/40 2%
0/0 0%
Hodgkins Lymphoma
3/16 19%
0/122 0%
Endometrial Carcinoma
4/42 10%
9/612 1%
Melanoma
3/210 1%
33/1899 2%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Chondrosarcoma
1/14 7%
0/75 0%
Acute Myeloid Leukemia
1/90 1%
0/0 0%
Osteosarcoma
2/45 4%
0/166 0%
Ewings Sarcoma
3/63 5%
0/262 0%
Gastric Carcinoma
0/74 0%
15/1809 1%
Non-Small Cell Lung Carcinoma
3/304 1%
10/1390 1%
Colorectal Carcinoma
6/143 4%
18/3239 1%
Neuroendocrine Tumour
3/154 2%
1/577 0%
Bladder Carcinoma
1/58 2%
4/956 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Medulloblastoma
0/0 0%
2/450 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
10/2550 0%
Breast Carcinoma
8/144 6%
5/3264 0%
Glioma
0/52 0%
8/2127 0%
Other Solid Cancers
1/94 1%
5/1515 0%
Ovarian Carcinoma
2/109 2%
2/998 0%
Head and Neck Carcinoma
0/85 0%
5/1574 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Kidney Carcinoma
1/85 1%
4/1862 0%
Squamous Cell Lung Carcinoma
0/57 0%
2/810 0%
Hepatocellular Carcinoma
0/46 0%
5/2210 0%
B-Lymphoblastic Leukemia
3/55 5%
3/2640 0%
Prostate Carcinoma
0/13 0%
3/2105 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in GEM 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 414 mutations in GEM

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