TMEM130

Transmembrane protein 130 Q8N3G9 TM130_HUMAN
Protein Coding Chr 7 7q22.1 Swiss-Prot reviewed Entrez 222865
Mutations
916
CL 144 · Tissue 765
Samples
279
CL 61 · Tissue 216
Peptides
221
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
Mutations916144765
Samples27961216
Peptides22139189

Function

TMEM130 · Transmembrane protein 130

Located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022]

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
ENST00000339375 Q8N3G9-2 281 192
ENST00000416379 Q8N3G9 263 187
ENST00000450876 G3V0E7* 198 146
ENST00000345589 Q8N3G9-3 174 132

Gene Properties

Type
Protein Coding
Chromosome
7
Cytoband
7q22.1
Entrez ID

Recurrent Mutations

All 192 amino-acid changes on canonical ENST00000339375 · 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 TMEM130 · 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 TMEM130 – 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
Chordoma
1/7 14%
0/13 0%
T-Lymphoblastic Leukemia
2/40 5%
0/0 0%
Endometrial Carcinoma
8/42 19%
12/612 2%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Melanoma
6/210 3%
38/1899 2%
Non-Small Cell Lung Carcinoma
8/304 3%
17/1390 1%
Other Solid Cancers
0/94 0%
21/1515 1%
Colorectal Carcinoma
16/143 11%
22/3239 1%
Gastric Carcinoma
1/74 1%
18/1809 1%
Squamous Cell Lung Carcinoma
1/57 2%
7/810 1%
Thyroid Gland Carcinoma
2/45 4%
10/1592 1%
Biliary Tract Carcinoma
1/54 2%
5/950 1%
Bladder Carcinoma
0/58 0%
6/956 1%
Neuroendocrine Tumour
4/154 3%
0/577 0%
Small Cell Lung Carcinoma
0/9 0%
4/752 1%
Esophageal Carcinoma
0/23 0%
4/769 1%
Osteosarcoma
0/45 0%
1/166 1%
Glioma
1/52 2%
9/2127 0%
Mesothelioma
0/62 0%
1/165 1%
Burkitts Lymphoma
1/32 3%
0/196 0%
Non-Cancerous
0/104 0%
4/830 0%
Prostate Carcinoma
2/13 15%
6/2105 0%
Ewings Sarcoma
1/63 2%
0/262 0%
Head and Neck Carcinoma
1/85 1%
4/1574 0%
Other Sarcomas
0/69 0%
2/699 0%
Medulloblastoma
0/0 0%
1/450 0%
Hepatocellular Carcinoma
0/46 0%
5/2210 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
5/2550 0%
Ovarian Carcinoma
0/109 0%
2/998 0%

Mutation Distribution

Where TMEM130 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in TMEM130 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 916 mutations in TMEM130

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