TPCN1

Two pore segment channel 1 Q9ULQ1 TPC1_HUMAN
Protein Coding Chr 12 12q24.13 Swiss-Prot reviewed Entrez 53373
Mutations
1,573
CL 212 · Tissue 1,352
Samples
411
CL 81 · Tissue 328
Peptides
325
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
Mutations1,5732121,352
Samples41181328
Peptides32561270

Function

TPCN1 · Two pore segment channel 1

Voltage-gated Ca(2+) and Na+ channels have 4 homologous domains, each containing 6 transmembrane segments, S1 to S6. TPCN1 is similar to these channels, but it has only 2 domains containing S1 to S6 (Ishibashi et al., 2000 [PubMed 10753632]).[supplied by OMIM, Mar 2008].

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
ENST00000335509 Q9ULQ1 440 308
ENST00000541517 Q9ULQ1-3 393 297
ENST00000550785 Q9ULQ1-3 393 297
ENST00000392569 B7Z3R2* 347 256

Gene Properties

Type
Protein Coding
Chromosome
12
Cytoband
12q24.13
Entrez ID
Aliases
TPC1

Recurrent Mutations

All 308 amino-acid changes on canonical ENST00000335509 · 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 TPCN1 · 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 TPCN1 – 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
5/40 12%
0/0 0%
T-Cell Non-Hodgkins Lymphoma
3/26 12%
0/0 0%
Chronic Myelogenous Leukemia
2/25 8%
0/0 0%
Endometrial Carcinoma
9/42 21%
22/612 4%
Melanoma
5/210 2%
43/1899 2%
Hodgkins Lymphoma
2/16 12%
1/122 1%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Gastric Carcinoma
4/74 5%
29/1809 2%
Non-Small Cell Lung Carcinoma
12/304 4%
14/1390 1%
Colorectal Carcinoma
9/143 6%
37/3239 1%
Other Solid Cancers
1/94 1%
19/1515 1%
Squamous Cell Lung Carcinoma
1/57 2%
9/810 1%
Esophageal Carcinoma
1/23 4%
8/769 1%
Cervical Carcinoma
1/35 3%
4/422 1%
Bladder Carcinoma
0/58 0%
11/956 1%
Glioblastoma
1/98 1%
0/0 0%
Small Cell Lung Carcinoma
0/9 0%
7/752 1%
Ewings Sarcoma
1/63 2%
2/262 1%
Neuroendocrine Tumour
4/154 3%
2/577 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
20/2550 1%
Biliary Tract Carcinoma
1/54 2%
7/950 1%
Hepatocellular Carcinoma
1/46 2%
16/2210 1%
Ovarian Carcinoma
3/109 3%
5/998 0%
Plasma Cell Myeloma
0/44 0%
2/305 1%
Thyroid Gland Carcinoma
0/45 0%
9/1592 1%
Head and Neck Carcinoma
0/85 0%
9/1574 1%
Other Sarcomas
1/69 1%
3/699 0%
Kidney Carcinoma
2/85 2%
8/1862 0%
Rhabdomyosarcoma
0/33 0%
1/171 1%
Non-Cancerous
1/104 1%
3/830 0%

Mutation Distribution

Where TPCN1 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in TPCN1 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 1,573 mutations in TPCN1

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