ITPR3

Inositol 1,4,5-trisphosphate receptor type 3 Q14573 ITPR3_HUMAN
Protein Coding Chr 6 6p21.31 Swiss-Prot reviewed Entrez 3710
Mutations
2,653
CL 410 · Tissue 2,178
Samples
1,169
CL 221 · Tissue 925
Peptides
951
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
Mutations2,6534102,178
Samples1,169221925
Peptides951169800

Function

ITPR3 · Inositol 1,4,5-trisphosphate receptor type 3

This gene encodes a receptor for inositol 1,4,5-trisphosphate, a second messenger that mediates the release of intracellular calcium. The receptor contains a calcium channel at the C-terminus and the ligand-binding site at the N-terminus. Knockout studies in mice suggest that type 2 and type 3 inositol 1,4,5-trisphosphate receptors play a key role in exocrine secretion underlying energy metabolism and growth. [provided by RefSeq, Aug 2010].

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
ENST00000605930 Q14573 1,400 948
ENST00000374316 Q14573 1,253 906

Gene Properties

Type
Protein Coding
Chromosome
6
Cytoband
6p21.31
Entrez ID
Aliases
CMT1JIMD132IMD133IP3RIP3R-3IP3R3

Recurrent Mutations

All 948 amino-acid changes on canonical ENST00000605930 · 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 ITPR3 · 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 ITPR3 – 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
10/40 25%
0/0 0%
Endometrial Carcinoma
13/42 31%
46/612 8%
Acute Monocytic Leukemia
1/1 100%
1/25 4%
Glioblastoma
7/98 7%
0/0 0%
Hodgkins Lymphoma
2/16 12%
7/122 6%
Colorectal Carcinoma
29/143 20%
153/3239 5%
Gastric Carcinoma
4/74 5%
95/1809 5%
Melanoma
12/210 6%
82/1899 4%
Non-Small Cell Lung Carcinoma
29/304 10%
41/1390 3%
Gastrointestinal Stromal Tumour
0/0 0%
5/133 4%
Oral Cavity Carcinoma
2/54 4%
0/0 0%
Cervical Carcinoma
2/35 6%
14/422 3%
Squamous Cell Lung Carcinoma
4/57 7%
23/810 3%
Hepatocellular Carcinoma
5/46 11%
65/2210 3%
Bladder Carcinoma
2/58 3%
27/956 3%
Other Solid Cancers
4/94 4%
40/1515 3%
Unknown
1/10 10%
0/29 0%
Ovarian Carcinoma
8/109 7%
15/998 2%
Thyroid Gland Carcinoma
2/45 4%
31/1592 2%
Rhabdomyosarcoma
3/33 9%
1/171 1%
Head and Neck Carcinoma
3/85 4%
29/1574 2%
Neuroendocrine Tumour
6/154 4%
8/577 1%
Esophageal Squamous Cell Carcinoma
2/51 4%
46/2550 2%
Other Sarcomas
0/69 0%
14/699 2%
Glioma
5/52 10%
34/2127 2%
Burkitts Lymphoma
2/32 6%
2/196 1%
Esophageal Carcinoma
0/23 0%
13/769 2%
Breast Carcinoma
17/144 12%
36/3264 1%
Non-Cancerous
3/104 3%
11/830 1%
Plasma Cell Myeloma
4/44 9%
1/305 0%

Mutation Distribution

Where ITPR3 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ITPR3 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 2,653 mutations in ITPR3

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