TEP1

Telomerase associated protein 1 Q99973 TEP1_HUMAN
Protein Coding Chr 14 14q11.2 Swiss-Prot reviewed Entrez 7011
Mutations
2,539
CL 367 · Tissue 2,142
Samples
1,173
CL 229 · Tissue 930
Peptides
985
unique mutant peptides
Transcripts
2
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
Mutations2,5393672,142
Samples1,173229930
Peptides985156835

Function

TEP1 · Telomerase associated protein 1

This gene product is a component of the ribonucleoprotein complex responsible for telomerase activity which catalyzes the addition of new telomeres on the chromosome ends. The telomerase-associated proteins are conserved from ciliates to humans. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016].

Isoforms & Proteins

2 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
ENST00000262715 Q99973 1,393 978
ENST00000556935 G3V5X7* 1,146 867

Gene Properties

Type
Protein Coding
Chromosome
14
Cytoband
14q11.2
Entrez ID
Aliases
TLP1TP1TROVE1VAULT2p240

Recurrent Mutations

All 978 amino-acid changes on canonical ENST00000262715 · 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 TEP1 · 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 TEP1 – 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
9/40 22%
0/0 0%
Endometrial Carcinoma
11/42 26%
42/612 7%
Melanoma
13/210 6%
121/1899 6%
Other Solid Cancers
10/94 11%
89/1515 6%
Rhabdomyosarcoma
1/33 3%
11/171 6%
Non-Small Cell Lung Carcinoma
30/304 10%
60/1390 4%
Unknown
0/10 0%
2/29 7%
Squamous Cell Lung Carcinoma
10/57 18%
25/810 3%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Small Cell Lung Carcinoma
4/9 44%
26/752 3%
Gastric Carcinoma
8/74 11%
66/1809 4%
Neuroendocrine Tumour
19/154 12%
9/577 2%
Colorectal Carcinoma
27/143 19%
101/3239 3%
Gastrointestinal Stromal Tumour
0/0 0%
5/133 4%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Glioblastoma
3/98 3%
0/0 0%
Bladder Carcinoma
4/58 7%
25/956 3%
Thymic Epithelial Tumor
0/0 0%
1/39 3%
Cervical Carcinoma
0/35 0%
11/422 3%
Non-Cancerous
3/104 3%
19/830 2%
Ovarian Carcinoma
9/109 8%
17/998 2%
Chondrosarcoma
1/14 7%
1/75 1%
Thyroid Gland Carcinoma
0/45 0%
33/1592 2%
Esophageal Carcinoma
0/23 0%
15/769 2%
Retinoblastoma
1/27 4%
0/30 0%
Hepatocellular Carcinoma
3/46 7%
35/2210 2%
Glioma
2/52 4%
33/2127 2%
Esophageal Squamous Cell Carcinoma
5/51 10%
36/2550 1%
Germ Cell Tumour
0/25 0%
3/169 2%
Head and Neck Carcinoma
3/85 4%
20/1574 1%

Mutation Distribution

Where TEP1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in TEP1 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 2,539 mutations in TEP1

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