TGIF1

TGFB induced factor homeobox 1 Q15583-3 TGIF1_HUMAN
Protein Coding Chr 18 18p11.31 Swiss-Prot reviewed Entrez 7050
Mutations
1,278
CL 105 · Tissue 1,167
Samples
160
CL 25 · Tissue 130
Peptides
155
unique mutant peptides
Transcripts
14
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
Mutations1,2781051,167
Samples16025130
Peptides15516140

Function

TGIF1 · TGFB induced factor homeobox 1

The protein encoded by this gene is a member of the three-amino acid loop extension (TALE) superclass of atypical homeodomains. TALE homeobox proteins are highly conserved transcription regulators. This particular homeodomain binds to a previously characterized retinoid X receptor responsive element from the cellular retinol-binding protein II promoter. In addition to its role in inhibiting 9-cis-retinoic acid-dependent RXR alpha transcription activation of the retinoic acid responsive element, the protein is an active transcriptional co-repressor of SMAD2 and may participate in the transmission of nuclear signals during development and in the adult. Mutations in this gene are associated with holoprosencephaly type 4, which is a structural anomaly of the brain. Alternative splicing has been observed at this locus and multiple splice variants encoding distinct isoforms are described. [provided by RefSeq, Jul 2013].

Isoforms & Proteins

14 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
ENST00000618001 Q15583-3 148 117
ENST00000343820 Q15583-2 136 103
ENST00000407501 Q15583-2 118 96
ENST00000401449 Q15583-4 113 90
ENST00000345133 Q15583-4 112 90
ENST00000400167 Q15583-4 112 90
ENST00000405385 Q15583-4 112 90
ENST00000472042 Q15583-4 112 90
ENST00000548489 Q15583-4 112 90
ENST00000551541 Q15583-4 112 90
ENST00000551402 F8W1J9* 43 34
ENST00000577543 J3KS32* 38 32
ENST00000330513 Q15583-4 6 5
ENST00000552383 F8VWK5* 4 4

Gene Properties

Type
Protein Coding
Chromosome
18
Cytoband
18p11.31
Entrez ID
Aliases
HPE4TGIF

Recurrent Mutations

All 118 amino-acid changes on canonical ENST00000618001 · 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 TGIF1 · 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 TGIF1 – 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
3/40 8%
0/0 0%
Colorectal Carcinoma
6/143 4%
39/3239 1%
Endometrial Carcinoma
2/42 5%
6/612 1%
Cervical Carcinoma
2/35 6%
2/422 0%
Gastrointestinal Stromal Tumour
0/0 0%
1/133 1%
Melanoma
1/210 0%
12/1899 1%
Plasma Cell Myeloma
0/44 0%
2/305 1%
Ovarian Carcinoma
2/109 2%
4/998 0%
Germ Cell Tumour
0/25 0%
1/169 1%
Other Solid Cancers
2/94 2%
6/1515 0%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Bladder Carcinoma
0/58 0%
5/956 1%
Medulloblastoma
0/0 0%
2/450 0%
Squamous Cell Lung Carcinoma
0/57 0%
3/810 0%
Gastric Carcinoma
2/74 3%
4/1809 0%
Hepatocellular Carcinoma
1/46 2%
6/2210 0%
Ewings Sarcoma
0/63 0%
1/262 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
7/2550 0%
Other Sarcomas
0/69 0%
2/699 0%
Thyroid Gland Carcinoma
2/45 4%
2/1592 0%
Head and Neck Carcinoma
1/85 1%
3/1574 0%
Non-Cancerous
0/104 0%
2/830 0%
Prostate Carcinoma
0/13 0%
4/2105 0%
Non-Small Cell Lung Carcinoma
0/304 0%
3/1390 0%
Breast Carcinoma
0/144 0%
5/3264 0%
Neuroblastoma
0/87 0%
2/1331 0%
Small Cell Lung Carcinoma
0/9 0%
1/752 0%
Pancreatic Carcinoma
0/89 0%
2/1611 0%
Other Blood Cancers
0/61 0%
3/2725 0%
Kidney Carcinoma
0/85 0%
2/1862 0%

Mutation Distribution

Where TGIF1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in TGIF1 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 1,278 mutations in TGIF1

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