MMD2

Miyoshi muscular dystrophy 2 Q8IY49 PAQRA_HUMAN
Unknown 10p Swiss-Prot reviewed Entrez 100505381
Mutations
660
CL 108 · Tissue 536
Samples
218
CL 48 · Tissue 166
Peptides
188
unique mutant peptides
Transcripts
4
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
Mutations660108536
Samples21848166
Peptides18835156

Isoforms & Proteins

4 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
ENST00000401401 Q8IY49-2 198 143
ENST00000404774 Q8IY49 184 148
ENST00000406755 Q8IY49-3 139 103
ENST00000612910 Q8IY49-3 139 103

Gene Properties

Type
Unknown
Cytoband
10p
Entrez ID

Recurrent Mutations

All 143 amino-acid changes on canonical ENST00000401401 · 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 MMD2 · 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 MMD2 – 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%
Non-Small Cell Lung Carcinoma
12/304 4%
15/1390 1%
Endometrial Carcinoma
1/42 2%
9/612 1%
Melanoma
9/210 4%
21/1899 1%
Gastric Carcinoma
5/74 7%
20/1809 1%
Colorectal Carcinoma
5/143 4%
27/3239 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Squamous Cell Lung Carcinoma
0/57 0%
6/810 1%
Neuroendocrine Tumour
3/154 2%
2/577 0%
Small Cell Lung Carcinoma
0/9 0%
5/752 1%
Bladder Carcinoma
1/58 2%
5/956 1%
Other Sarcomas
1/69 1%
3/699 0%
Other Solid Cancers
0/94 0%
8/1515 1%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Non-Cancerous
1/104 1%
2/830 0%
Biliary Tract Carcinoma
0/54 0%
3/950 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Pancreatic Carcinoma
0/89 0%
5/1611 0%
Glioma
0/52 0%
6/2127 0%
Esophageal Carcinoma
0/23 0%
2/769 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Hepatocellular Carcinoma
0/46 0%
5/2210 0%
B-Cell Non-Hodgkins Lymphoma
2/88 2%
3/2534 0%
B-Lymphoblastic Leukemia
2/55 4%
3/2640 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
5/2550 0%
Thyroid Gland Carcinoma
0/45 0%
3/1592 0%
Kidney Carcinoma
2/85 2%
1/1862 0%
Breast Carcinoma
0/144 0%
5/3264 0%
Head and Neck Carcinoma
1/85 1%
1/1574 0%
Ovarian Carcinoma
1/109 1%
0/998 0%

Mutation Distribution

Where MMD2 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in MMD2 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 33 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 660 mutations in MMD2

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