TRPS1

Transcriptional repressor GATA binding 1 Q9UHF7 TRPS1_HUMAN
Protein Coding Chr 8 8q23.3 Swiss-Prot reviewed Entrez 7227
Mutations
6,155
CL 772 · Tissue 5,100
Samples
1,069
CL 195 · Tissue 844
Peptides
933
unique mutant peptides
Transcripts
6
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
Mutations6,1557725,100
Samples1,069195844
Peptides933139794

Function

TRPS1 · Transcriptional repressor GATA binding 1

This gene encodes a transcription factor that represses GATA-regulated genes and binds to a dynein light chain protein. Binding of the encoded protein to the dynein light chain protein affects binding to GATA consensus sequences and suppresses its transcriptional activity. Defects in this gene are a cause of tricho-rhino-phalangeal syndrome (TRPS) types I-III. [provided by RefSeq, Jul 2008].

Isoforms & Proteins

6 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
ENST00000395715 Q9UHF7-2 1,211 864
ENST00000220888 Q9UHF7 1,101 840
ENST00000520276 Q9UHF7-3 1,101 839
ENST00000640765 Q9UHF7 1,098 837
ENST00000519076 E5RFF3* 919 692
ENST00000519674 E5RJ97* 725 564

Gene Properties

Type
Protein Coding
Chromosome
8
Cytoband
8q23.3
Entrez ID
Aliases
GC79LGCR

Recurrent Mutations

All 864 amino-acid changes on canonical ENST00000395715 · 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 TRPS1 · 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 TRPS1 – 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
6/40 15%
0/0 0%
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
Non-Small Cell Lung Carcinoma
39/304 13%
84/1390 6%
Colorectal Carcinoma
34/143 24%
184/3239 6%
Squamous Cell Lung Carcinoma
10/57 18%
39/810 5%
Gastric Carcinoma
4/74 5%
98/1809 5%
Endometrial Carcinoma
4/42 10%
29/612 5%
Hodgkins Lymphoma
2/16 12%
4/122 3%
Melanoma
17/210 8%
68/1899 4%
Glioblastoma
3/98 3%
0/0 0%
Other Solid Cancers
3/94 3%
46/1515 3%
Neuroendocrine Tumour
9/154 6%
11/577 2%
Bladder Carcinoma
0/58 0%
27/956 3%
Small Cell Lung Carcinoma
0/9 0%
20/752 3%
Unknown
0/10 0%
1/29 3%
Acute Myeloid Leukemia
2/90 2%
0/0 0%
Non-Cancerous
1/104 1%
16/830 2%
Head and Neck Carcinoma
1/85 1%
29/1574 2%
Plasma Cell Myeloma
2/44 5%
4/305 1%
Biliary Tract Carcinoma
2/54 4%
15/950 2%
Hepatocellular Carcinoma
1/46 2%
37/2210 2%
Cervical Carcinoma
0/35 0%
7/422 2%
Rhabdomyosarcoma
1/33 3%
2/171 1%
Esophageal Squamous Cell Carcinoma
2/51 4%
36/2550 1%
Mesothelioma
0/62 0%
3/165 2%
Burkitts Lymphoma
3/32 9%
0/196 0%
Ovarian Carcinoma
3/109 3%
11/998 1%
Esophageal Carcinoma
0/23 0%
9/769 1%
Germ Cell Tumour
1/25 4%
1/169 1%
Breast Carcinoma
5/144 3%
24/3264 1%

Mutation Distribution

Where TRPS1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in TRPS1 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 6,155 mutations in TRPS1

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