TMTC1

Transmembrane O-mannosyltransferase targeting cadherins 1 Q8IUR5 TMTC1_HUMAN
Protein Coding Chr 12 12p11.22 Swiss-Prot reviewed Entrez 83857
Mutations
2,331
CL 301 · Tissue 2,003
Samples
583
CL 95 · Tissue 479
Peptides
447
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
Mutations2,3313012,003
Samples58395479
Peptides44775386

Function

TMTC1 · Transmembrane O-mannosyltransferase targeting cadherins 1

Enables mannosyltransferase activity. Involved in protein O-linked mannosylation. Predicted to be located in endoplasmic reticulum. Predicted to be integral component of membrane. [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
ENST00000539277 Q8IUR5 639 398
ENST00000551659 F8VTQ9* 615 398
ENST00000552618 F8VXU8* 593 379
ENST00000256062 Q8IUR5-1 484 360

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12p11.22
Entrez ID
Aliases
ARG99OLFTMTC1A

Recurrent Mutations

All 398 amino-acid changes on canonical ENST00000539277 · 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 TMTC1 · 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 TMTC1 – 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
Non-Small Cell Lung Carcinoma
20/304 7%
73/1390 5%
Endometrial Carcinoma
5/42 12%
25/612 4%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Rhabdomyosarcoma
0/33 0%
6/171 4%
Squamous Cell Lung Carcinoma
5/57 9%
19/810 2%
Chondrosarcoma
2/14 14%
0/75 0%
Colorectal Carcinoma
17/143 12%
54/3239 2%
Melanoma
7/210 3%
37/1899 2%
Glioblastoma
2/98 2%
0/0 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Gastric Carcinoma
0/74 0%
34/1809 2%
Bladder Carcinoma
8/58 14%
10/956 1%
Cervical Carcinoma
0/35 0%
8/422 2%
Small Cell Lung Carcinoma
0/9 0%
13/752 2%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Neuroendocrine Tumour
6/154 4%
4/577 1%
Esophageal Squamous Cell Carcinoma
1/51 2%
29/2550 1%
Biliary Tract Carcinoma
2/54 4%
9/950 1%
Germ Cell Tumour
1/25 4%
1/169 1%
Non-Cancerous
0/104 0%
9/830 1%
Pancreatic Carcinoma
3/89 3%
13/1611 1%
Head and Neck Carcinoma
0/85 0%
15/1574 1%
Esophageal Carcinoma
2/23 9%
5/769 1%
Plasma Cell Myeloma
0/44 0%
3/305 1%
Thyroid Gland Carcinoma
0/45 0%
13/1592 1%
Other Sarcomas
0/69 0%
6/699 1%
Hepatocellular Carcinoma
1/46 2%
16/2210 1%
Other Solid Cancers
0/94 0%
12/1515 1%
Hodgkins Lymphoma
0/16 0%
1/122 1%
Glioma
0/52 0%
15/2127 1%

Mutation Distribution

Where TMTC1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in TMTC1 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 2,331 mutations in TMTC1

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