TMTC4

Transmembrane O-mannosyltransferase targeting cadherins 4 Q5T4D3 TMTC4_HUMAN
Protein Coding Chr 13 13q32.3 Swiss-Prot reviewed Entrez 84899
Mutations
1,038
CL 158 · Tissue 874
Samples
378
CL 81 · Tissue 294
Peptides
296
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
Mutations1,038158874
Samples37881294
Peptides29656249

Function

TMTC4 · Transmembrane O-mannosyltransferase targeting cadherins 4

This gene encodes a transmembrane protein that belongs to family of proteins containing an N-terminal transmembrane domain and a C-terminal tetratricopeptide repeat (TPR) domain. TPR domains mediate protein-protein interactions in various cellular processes, such as synaptic vesicle fusion, protein folding, and protein translocation. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Apr 2017].

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
ENST00000342624 Q5T4D3-3 393 285
ENST00000376234 Q5T4D3 348 265
ENST00000328767 Q5T4D3-4 297 227

Gene Properties

Type
Protein Coding
Chromosome
13
Cytoband
13q32.3
Entrez ID
Aliases
DFNB122

Recurrent Mutations

All 285 amino-acid changes on canonical ENST00000342624 · 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 TMTC4 · 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 TMTC4 – 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%
Endometrial Carcinoma
3/42 7%
21/612 3%
Acute Myeloid Leukemia
3/90 3%
0/0 0%
Non-Small Cell Lung Carcinoma
9/304 3%
25/1390 2%
Colorectal Carcinoma
17/143 12%
48/3239 1%
Gastric Carcinoma
1/74 1%
33/1809 2%
Melanoma
3/210 1%
23/1899 1%
Bladder Carcinoma
0/58 0%
12/956 1%
Cervical Carcinoma
1/35 3%
4/422 1%
Neuroendocrine Tumour
4/154 3%
4/577 1%
Other Solid Cancers
0/94 0%
14/1515 1%
Squamous Cell Lung Carcinoma
1/57 2%
6/810 1%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Pancreatic Carcinoma
8/89 9%
4/1611 0%
Glioma
1/52 2%
14/2127 1%
Esophageal Carcinoma
0/23 0%
5/769 1%
Hepatocellular Carcinoma
2/46 4%
12/2210 1%
Biliary Tract Carcinoma
0/54 0%
6/950 1%
Breast Carcinoma
6/144 4%
14/3264 0%
Thyroid Gland Carcinoma
1/45 2%
8/1592 0%
Ovarian Carcinoma
2/109 2%
4/998 0%
Other Sarcomas
2/69 3%
2/699 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Head and Neck Carcinoma
0/85 0%
8/1574 1%
Osteosarcoma
0/45 0%
1/166 1%
Burkitts Lymphoma
1/32 3%
0/196 0%
Prostate Carcinoma
2/13 15%
7/2105 0%
Meningioma
1/3 33%
0/252 0%

Mutation Distribution

Where TMTC4 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in TMTC4 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 1,038 mutations in TMTC4

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