GINS1

GINS complex subunit 1 Q14691 PSF1_HUMAN
Protein Coding Chr 20 20p11.21 Swiss-Prot reviewed Entrez 9837
Mutations
87
CL 17 · Tissue 67
Samples
86
CL 17 · Tissue 66
Peptides
59
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
Mutations871767
Samples861766
Peptides591247

Function

GINS1 · GINS complex subunit 1

The yeast heterotetrameric GINS complex is made up of Sld5 (GINS4; MIM 610611), Psf1, Psf2 (GINS2; MIM 610609), and Psf3 (GINS3; MIM 610610). The formation of the GINS complex is essential for the initiation of DNA replication in yeast and Xenopus egg extracts (Ueno et al., 2005 [PubMed 16287864]).[supplied by OMIM, Mar 2008].

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
ENST00000262460 Q14691 87 59

Gene Properties

Type
Protein Coding
Chromosome
20
Cytoband
20p11.21
Entrez ID
Aliases
IMD55PSF1

Recurrent Mutations

All 59 amino-acid changes on canonical ENST00000262460 · 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 GINS1 · 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 GINS1 – 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
1/7 14%
0/13 0%
Gastrointestinal Stromal Tumour
0/0 0%
3/133 2%
Endometrial Carcinoma
1/42 2%
9/612 1%
Chondrosarcoma
1/14 7%
0/75 0%
Osteosarcoma
1/45 2%
1/166 1%
Colorectal Carcinoma
3/143 2%
13/3239 0%
Cervical Carcinoma
2/35 6%
0/422 0%
Small Cell Lung Carcinoma
0/9 0%
3/752 0%
Head and Neck Carcinoma
1/85 1%
5/1574 0%
Bladder Carcinoma
0/58 0%
3/956 0%
Non-Small Cell Lung Carcinoma
1/304 0%
4/1390 0%
Melanoma
0/210 0%
6/1899 0%
Ovarian Carcinoma
0/109 0%
3/998 0%
Squamous Cell Lung Carcinoma
1/57 2%
1/810 0%
Biliary Tract Carcinoma
0/54 0%
2/950 0%
Hepatocellular Carcinoma
0/46 0%
4/2210 0%
Gastric Carcinoma
0/74 0%
3/1809 0%
Esophageal Carcinoma
0/23 0%
1/769 0%
Other Sarcomas
1/69 1%
0/699 0%
Thyroid Gland Carcinoma
0/45 0%
2/1592 0%
Other Solid Cancers
0/94 0%
1/1515 0%
Glioma
0/52 0%
1/2127 0%
Prostate Carcinoma
0/13 0%
1/2105 0%
B-Cell Non-Hodgkins Lymphoma
0/88 0%
1/2534 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
1/2550 0%
Breast Carcinoma
0/144 0%
1/3264 0%

Mutation Distribution

Where GINS1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in GINS1 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 87 mutations in GINS1

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