MCM8

Minichromosome maintenance 8 homologous recombination repair factor Q9UJA3 MCM8_HUMAN
Protein Coding Chr 20 20p12.3 Swiss-Prot reviewed Entrez 84515
Mutations
1,792
CL 269 · Tissue 1,515
Samples
381
CL 81 · Tissue 297
Peptides
301
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
Mutations1,7922691,515
Samples38181297
Peptides30159247

Function

MCM8 · Minichromosome maintenance 8 homologous recombination repair factor

The protein encoded by this gene is one of the highly conserved mini-chromosome maintenance proteins (MCM) that are essential for the initiation of eukaryotic genome replication. The hexameric protein complex formed by the mini-chromosome maintenance proteins is a key component of the pre-replication complex and may be involved in the formation of replication forks and in the recruitment of other DNA replication related proteins. This protein contains the central domain that is conserved among the mini-chromosome maintenance proteins. The encoded protein may interact with other mini-chromosome maintenance proteins and play a role in DNA replication. This gene may be associated with length of reproductive lifespan and menopause. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2013].

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
ENST00000610722 Q9UJA3 394 279
ENST00000378886 Q9UJA3-4 361 269
ENST00000378896 Q9UJA3 352 264
ENST00000265187 Q9UJA3-3 350 261
ENST00000378883 Q9UJA3-2 335 249

Gene Properties

Type
Protein Coding
Chromosome
20
Cytoband
20p12.3
Entrez ID
Aliases
C20orf154POF10dJ967N21.5

Recurrent Mutations

All 279 amino-acid changes on canonical ENST00000610722 · 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 MCM8 · 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 MCM8 – 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
3/40 8%
0/0 0%
Acute Monocytic Leukemia
0/1 0%
1/25 4%
Endometrial Carcinoma
5/42 12%
13/612 2%
Gastrointestinal Stromal Tumour
0/0 0%
3/133 2%
Chondrosarcoma
0/14 0%
2/75 3%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Bladder Carcinoma
1/58 2%
17/956 2%
Burkitts Lymphoma
1/32 3%
3/196 2%
Melanoma
5/210 2%
30/1899 2%
Squamous Cell Lung Carcinoma
1/57 2%
12/810 1%
Hodgkins Lymphoma
0/16 0%
2/122 2%
Osteosarcoma
2/45 4%
1/166 1%
Gastric Carcinoma
2/74 3%
21/1809 1%
Colorectal Carcinoma
12/143 8%
29/3239 1%
Non-Small Cell Lung Carcinoma
12/304 4%
7/1390 0%
Cervical Carcinoma
0/35 0%
5/422 1%
Germ Cell Tumour
0/25 0%
2/169 1%
Glioblastoma
1/98 1%
0/0 0%
Other Solid Cancers
2/94 2%
14/1515 1%
Rhabdomyosarcoma
0/33 0%
2/171 1%
Head and Neck Carcinoma
1/85 1%
15/1574 1%
Ewings Sarcoma
2/63 3%
1/262 0%
Ovarian Carcinoma
2/109 2%
6/998 1%
Esophageal Squamous Cell Carcinoma
0/51 0%
18/2550 1%
B-Cell Non-Hodgkins Lymphoma
2/88 2%
16/2534 1%
Neuroendocrine Tumour
4/154 3%
1/577 0%
Prostate Carcinoma
3/13 23%
11/2105 1%
Hepatocellular Carcinoma
0/46 0%
14/2210 1%
Thyroid Gland Carcinoma
0/45 0%
10/1592 1%
Biliary Tract Carcinoma
1/54 2%
5/950 1%

Mutation Distribution

Where MCM8 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in MCM8 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 1,792 mutations in MCM8

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