GSS

Glutathione synthetase P48637 GSHB_HUMAN
Protein Coding Chr 20 20q11.22 Swiss-Prot reviewed Entrez 2937
Mutations
1,029
CL 92 · Tissue 908
Samples
203
CL 29 · Tissue 166
Peptides
163
unique mutant peptides
Transcripts
6
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
Mutations1,02992908
Samples20329166
Peptides16320139

Function

GSS · Glutathione synthetase

Glutathione is important for a variety of biological functions, including protection of cells from oxidative damage by free radicals, detoxification of xenobiotics, and membrane transport. The protein encoded by this gene functions as a homodimer to catalyze the second step of glutathione biosynthesis, which is the ATP-dependent conversion of gamma-L-glutamyl-L-cysteine to glutathione. Defects in this gene are a cause of glutathione synthetase deficiency. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

6 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
ENST00000651619 P48637 208 158
ENST00000643188 P48637 189 150
ENST00000644793 P48637 189 150
ENST00000642498 A0A2R8Y430* 171 135
ENST00000451957 P48637-2 136 115
ENST00000646735 P48637-2 136 115

Gene Properties

Type
Protein Coding
Chromosome
20
Cytoband
20q11.22
Entrez ID
Aliases
CNSHA6GSHSHEL-S-64pHEL-S-88n

Recurrent Mutations

All 158 amino-acid changes on canonical ENST00000651619 · 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 GSS · 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 GSS – 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
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Endometrial Carcinoma
1/42 2%
10/612 2%
Melanoma
2/210 1%
32/1899 2%
Glioblastoma
1/98 1%
0/0 0%
Bladder Carcinoma
2/58 3%
7/956 1%
Gastric Carcinoma
0/74 0%
16/1809 1%
Colorectal Carcinoma
2/143 1%
23/3239 1%
Ovarian Carcinoma
1/109 1%
7/998 1%
Non-Small Cell Lung Carcinoma
4/304 1%
8/1390 1%
Medulloblastoma
0/0 0%
3/450 1%
Ewings Sarcoma
2/63 3%
0/262 0%
Thyroid Gland Carcinoma
1/45 2%
7/1592 0%
Osteosarcoma
0/45 0%
1/166 1%
Squamous Cell Lung Carcinoma
0/57 0%
4/810 0%
Other Solid Cancers
0/94 0%
7/1515 0%
Cervical Carcinoma
0/35 0%
2/422 0%
Hepatocellular Carcinoma
1/46 2%
7/2210 0%
Glioma
0/52 0%
7/2127 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
B-Lymphoblastic Leukemia
3/55 5%
4/2640 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Head and Neck Carcinoma
0/85 0%
4/1574 0%
Non-Cancerous
1/104 1%
1/830 0%
Pancreatic Carcinoma
3/89 3%
0/1611 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
4/2550 0%
Breast Carcinoma
0/144 0%
5/3264 0%
Neuroendocrine Tumour
1/154 1%
0/577 0%
Other Sarcomas
0/69 0%
1/699 0%

Mutation Distribution

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

Mutation counts by tissue
Mutation Distribution

How many mutations in GSS 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 1,029 mutations in GSS

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