TUFT1

Tuftelin 1 Q9NNX1 TUFT1_HUMAN
Protein Coding Chr 1 1q21.3 Swiss-Prot reviewed Entrez 7286
Mutations
425
CL 34 · Tissue 390
Samples
156
CL 20 · Tissue 135
Peptides
143
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
Mutations42534390
Samples15620135
Peptides14316126

Function

TUFT1 · Tuftelin 1

Tuftelin is an acidic protein that is thought to play a role in dental enamel mineralization and is implicated in caries susceptibility. It is also thought to be involved with adaptation to hypoxia, mesenchymal stem cell function, and neurotrophin nerve growth factor mediated neuronal differentiation. [provided by RefSeq, Aug 2014].

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
ENST00000368849 Q9NNX1 162 126
ENST00000368848 Q9NNX1-2 139 107
ENST00000392712 A6PVU8* 124 98

Gene Properties

Type
Protein Coding
Chromosome
1
Cytoband
1q21.3
Entrez ID
Aliases
WHSF

Recurrent Mutations

All 126 amino-acid changes on canonical ENST00000368849 · 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 TUFT1 · 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 TUFT1 – 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
Thymic Epithelial Tumor
0/0 0%
1/39 3%
Gastrointestinal Stromal Tumour
0/0 0%
2/133 2%
Endometrial Carcinoma
3/42 7%
6/612 1%
Glioblastoma
1/98 1%
0/0 0%
Plasma Cell Myeloma
0/44 0%
3/305 1%
Gastric Carcinoma
0/74 0%
14/1809 1%
Non-Small Cell Lung Carcinoma
5/304 2%
7/1390 0%
Melanoma
1/210 0%
13/1899 1%
Hepatocellular Carcinoma
2/46 4%
12/2210 1%
Germ Cell Tumour
0/25 0%
1/169 1%
Colorectal Carcinoma
2/143 1%
15/3239 0%
Bladder Carcinoma
0/58 0%
5/956 1%
Cervical Carcinoma
0/35 0%
2/422 0%
Glioma
0/52 0%
9/2127 0%
Head and Neck Carcinoma
0/85 0%
6/1574 0%
Thyroid Gland Carcinoma
0/45 0%
5/1592 0%
Other Solid Cancers
0/94 0%
4/1515 0%
Breast Carcinoma
1/144 1%
7/3264 0%
Squamous Cell Lung Carcinoma
0/57 0%
2/810 0%
Medulloblastoma
0/0 0%
1/450 0%
Biliary Tract Carcinoma
1/54 2%
1/950 0%
Prostate Carcinoma
1/13 8%
3/2105 0%
Esophageal Squamous Cell Carcinoma
0/51 0%
5/2550 0%
Ovarian Carcinoma
0/109 0%
2/998 0%
Pancreatic Carcinoma
0/89 0%
3/1611 0%
Neuroendocrine Tumour
1/154 1%
0/577 0%
Small Cell Lung Carcinoma
0/9 0%
1/752 0%
B-Cell Non-Hodgkins Lymphoma
1/88 1%
2/2534 0%
Kidney Carcinoma
0/85 0%
2/1862 0%
Other Blood Cancers
0/61 0%
2/2725 0%

Mutation Distribution

Where TUFT1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in TUFT1 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 425 mutations in TUFT1

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