TMED1

Transmembrane p24 trafficking protein 1 Q13445 TMED1_HUMAN
Protein Coding Chr 19 19p13.2 Swiss-Prot reviewed Entrez 11018
Mutations
198
CL 34 · Tissue 164
Samples
119
CL 29 · Tissue 90
Peptides
117
unique mutant peptides
Transcripts
3
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
Mutations19834164
Samples1192990
Peptides11720100

Function

TMED1 · Transmembrane p24 trafficking protein 1

This gene belongs to the TMED (transmembrane emp24 domain-containing) protein family, which is involved in the vesicular trafficking of proteins. The protein encoded by this gene was identified by its interaction with interleukin 1 receptor-like 1 (IL1RL1) and may play a role in innate immunity. This protein lacks any similarity to other interleukin 1 ligands. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013].

Isoforms & Proteins

3 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
ENST00000214869 Q13445 98 82
ENST00000591695 K7ERK5* 65 51
ENST00000588289 K7EIN4* 35 30

Gene Properties

Type
Protein Coding
Chromosome
19
Cytoband
19p13.2
Entrez ID
Aliases
IL1RL1LGIl1rl1lTp24p24g1

Recurrent Mutations

All 82 amino-acid changes on canonical ENST00000214869 · 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 TMED1 · 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 TMED1 – 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
2/40 5%
0/0 0%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Glioblastoma
2/98 2%
0/0 0%
Endometrial Carcinoma
1/42 2%
4/612 1%
Cervical Carcinoma
0/35 0%
3/422 1%
Melanoma
0/210 0%
11/1899 1%
Bladder Carcinoma
0/58 0%
5/956 1%
Colorectal Carcinoma
2/143 1%
14/3239 0%
Osteosarcoma
1/45 2%
0/166 0%
Ovarian Carcinoma
2/109 2%
3/998 0%
Burkitts Lymphoma
0/32 0%
1/196 1%
Neuroendocrine Tumour
2/154 1%
1/577 0%
Thyroid Gland Carcinoma
0/45 0%
6/1592 0%
Gastric Carcinoma
0/74 0%
7/1809 0%
Glioma
1/52 2%
6/2127 0%
Other Solid Cancers
0/94 0%
5/1515 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Plasma Cell Myeloma
1/44 2%
0/305 0%
Esophageal Squamous Cell Carcinoma
3/51 6%
4/2550 0%
Non-Small Cell Lung Carcinoma
1/304 0%
3/1390 0%
Squamous Cell Lung Carcinoma
1/57 2%
1/810 0%
Medulloblastoma
0/0 0%
1/450 0%
Hepatocellular Carcinoma
0/46 0%
4/2210 0%
Breast Carcinoma
4/144 3%
2/3264 0%
Small Cell Lung Carcinoma
0/9 0%
1/752 0%
Other Sarcomas
0/69 0%
1/699 0%
B-Cell Non-Hodgkins Lymphoma
3/88 3%
0/2534 0%
Non-Cancerous
0/104 0%
1/830 0%
Kidney Carcinoma
1/85 1%
1/1862 0%
Head and Neck Carcinoma
0/85 0%
1/1574 0%

Mutation Distribution

Where TMED1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in TMED1 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 198 mutations in TMED1

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