CTHRC1

Collagen triple helix repeat containing 1 Q96CG8 CTHR1_HUMAN
Protein Coding Chr 8 8q22.3 Swiss-Prot reviewed Entrez 115908
Mutations
344
CL 74 · Tissue 267
Samples
144
CL 39 · Tissue 102
Peptides
125
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
Mutations34474267
Samples14439102
Peptides1252996

Function

CTHRC1 · Collagen triple helix repeat containing 1

This locus encodes a protein that may play a role in the cellular response to arterial injury through involvement in vascular remodeling. Mutations at this locus have been associated with Barrett esophagus and esophageal adenocarcinoma. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012].

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
ENST00000330295 Q96CG8 130 91
ENST00000520337 Q96CG8-3 104 79
ENST00000415886 E7EVQ5* 56 43
ENST00000520880 E5RK99* 54 42

Gene Properties

Type
Protein Coding
Chromosome
8
Cytoband
8q22.3
Entrez ID

Recurrent Mutations

All 91 amino-acid changes on canonical ENST00000330295 · 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 CTHRC1 · 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 CTHRC1 – 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%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Glioblastoma
3/98 3%
0/0 0%
Unknown
0/10 0%
1/29 3%
Endometrial Carcinoma
2/42 5%
13/612 2%
Germ Cell Tumour
0/25 0%
2/169 1%
Colorectal Carcinoma
8/143 6%
17/3239 1%
Neuroendocrine Tumour
4/154 3%
1/577 0%
Melanoma
5/210 2%
7/1899 0%
Non-Cancerous
1/104 1%
4/830 0%
Bladder Carcinoma
0/58 0%
5/956 1%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Ovarian Carcinoma
2/109 2%
2/998 0%
Non-Small Cell Lung Carcinoma
5/304 2%
1/1390 0%
Squamous Cell Lung Carcinoma
0/57 0%
3/810 0%
Gastric Carcinoma
0/74 0%
6/1809 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
8/2550 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Pancreatic Carcinoma
1/89 1%
4/1611 0%
Plasma Cell Myeloma
0/44 0%
1/305 0%
Hepatocellular Carcinoma
0/46 0%
6/2210 0%
Small Cell Lung Carcinoma
0/9 0%
2/752 0%
Other Solid Cancers
0/94 0%
4/1515 0%
Medulloblastoma
0/0 0%
1/450 0%
Cervical Carcinoma
0/35 0%
1/422 0%
Breast Carcinoma
1/144 1%
5/3264 0%
Glioma
0/52 0%
4/2127 0%
B-Cell Non-Hodgkins Lymphoma
2/88 2%
2/2534 0%
Kidney Carcinoma
2/85 2%
0/1862 0%
Prostate Carcinoma
0/13 0%
2/2105 0%

Mutation Distribution

Where CTHRC1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in CTHRC1 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 344 mutations in CTHRC1

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