ITIH3

Inter-alpha-trypsin inhibitor heavy chain 3 Q06033 ITIH3_HUMAN
Protein Coding Chr 3 3p21.1 Swiss-Prot reviewed Entrez 3699
Mutations
908
CL 175 · Tissue 720
Samples
507
CL 117 · Tissue 384
Peptides
331
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
Mutations908175720
Samples507117384
Peptides33176266

Function

ITIH3 · Inter-alpha-trypsin inhibitor heavy chain 3

This gene encodes the heavy chain subunit of the pre-alpha-trypsin inhibitor complex. This complex may stabilize the extracellular matrix through its ability to bind hyaluronic acid. Polymorphisms of this gene may be associated with increased risk for schizophrenia and major depressive disorder. This gene is present in an inter-alpha-trypsin inhibitor family gene cluster on chromosome 3. [provided by RefSeq, Jul 2015].

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
ENST00000449956 Q06033 547 325
ENST00000416872 E7ET33* 361 223

Gene Properties

Type
Protein Coding
Chromosome
3
Cytoband
3p21.1
Entrez ID
Aliases
H3PITI-HC3SHAP

Recurrent Mutations

All 325 amino-acid changes on canonical ENST00000449956 · 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 ITIH3 · 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 ITIH3 – 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
9/42 21%
27/612 4%
Other Solid Cancers
3/94 3%
64/1515 4%
Chronic Myelogenous Leukemia
1/25 4%
0/0 0%
Gastrointestinal Stromal Tumour
0/0 0%
5/133 4%
Melanoma
10/210 5%
59/1899 3%
Rhabdomyosarcoma
6/33 18%
0/171 0%
Hodgkins Lymphoma
4/16 25%
0/122 0%
Glioblastoma
2/98 2%
0/0 0%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Non-Small Cell Lung Carcinoma
19/304 6%
10/1390 1%
Colorectal Carcinoma
15/143 10%
41/3239 1%
Cervical Carcinoma
0/35 0%
7/422 2%
Ovarian Carcinoma
9/109 8%
7/998 1%
Squamous Cell Lung Carcinoma
3/57 5%
8/810 1%
Gastric Carcinoma
2/74 3%
21/1809 1%
Chondrosarcoma
1/14 7%
0/75 0%
Germ Cell Tumour
1/25 4%
1/169 1%
Osteosarcoma
2/45 4%
0/166 0%
Bladder Carcinoma
0/58 0%
9/956 1%
Mesothelioma
2/62 3%
0/165 0%
Esophageal Squamous Cell Carcinoma
1/51 2%
20/2550 1%
Biliary Tract Carcinoma
0/54 0%
8/950 1%
Hepatocellular Carcinoma
1/46 2%
16/2210 1%
Head and Neck Carcinoma
1/85 1%
10/1574 1%
Glioma
1/52 2%
13/2127 1%
Prostate Carcinoma
0/13 0%
10/2105 0%
Breast Carcinoma
2/144 1%
14/3264 0%
Burkitts Lymphoma
1/32 3%
0/196 0%
Medulloblastoma
0/0 0%
2/450 0%

Mutation Distribution

Where ITIH3 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ITIH3 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 908 mutations in ITIH3

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