ITGB4

Integrin subunit beta 4 P16144 ITB4_HUMAN
Protein Coding Chr 17 17q25.1 Swiss-Prot reviewed Entrez 3691
Mutations
3,675
CL 583 · Tissue 3,043
Samples
939
CL 215 · Tissue 708
Peptides
761
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
Mutations3,6755833,043
Samples939215708
Peptides761165617

Function

ITGB4 · Integrin subunit beta 4

Integrins are heterodimers comprised of alpha and beta subunits, that are noncovalently associated transmembrane glycoprotein receptors. Different combinations of alpha and beta polypeptides form complexes that vary in their ligand-binding specificities. Integrins mediate cell-matrix or cell-cell adhesion, and transduced signals that regulate gene expression and cell growth. This gene encodes the integrin beta 4 subunit, a receptor for the laminins. This subunit tends to associate with alpha 6 subunit and is likely to play a pivotal role in the biology of invasive carcinoma. Mutations in this gene are associated with epidermolysis bullosa with pyloric atresia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 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
ENST00000200181 P16144 1,021 722
ENST00000449880 P16144-3 898 670
ENST00000579662 P16144-2 879 653
ENST00000450894 P16144-2 877 651

Gene Properties

Type
Protein Coding
Chromosome
17
Cytoband
17q25.1
Entrez ID
Aliases
CD104GP150JEB5AJEB5B

Recurrent Mutations

All 722 amino-acid changes on canonical ENST00000200181 · 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 ITGB4 · 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 ITGB4 – 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
15/40 38%
0/0 0%
Chronic Myelogenous Leukemia
4/25 16%
0/0 0%
Endometrial Carcinoma
15/42 36%
32/612 5%
Melanoma
17/210 8%
102/1899 5%
Gastrointestinal Stromal Tumour
0/0 0%
7/133 5%
Chordoma
0/7 0%
1/13 8%
Colorectal Carcinoma
25/143 17%
116/3239 4%
T-Cell Non-Hodgkins Lymphoma
1/26 4%
0/0 0%
Hodgkins Lymphoma
2/16 12%
3/122 2%
Gastric Carcinoma
7/74 9%
53/1809 3%
Squamous Cell Lung Carcinoma
2/57 4%
23/810 3%
Cervical Carcinoma
2/35 6%
11/422 3%
Non-Small Cell Lung Carcinoma
27/304 9%
19/1390 1%
Bladder Carcinoma
1/58 2%
26/956 3%
Glioblastoma
2/98 2%
0/0 0%
Plasma Cell Myeloma
1/44 2%
6/305 2%
Head and Neck Carcinoma
7/85 8%
25/1574 2%
Oral Cavity Carcinoma
1/54 2%
0/0 0%
Neuroendocrine Tumour
9/154 6%
4/577 1%
Non-Cancerous
1/104 1%
15/830 2%
Other Sarcomas
6/69 9%
7/699 1%
Esophageal Squamous Cell Carcinoma
3/51 6%
39/2550 2%
Germ Cell Tumour
1/25 4%
2/169 1%
Other Solid Cancers
1/94 1%
24/1515 2%
Glioma
4/52 8%
27/2127 1%
Thyroid Gland Carcinoma
4/45 9%
19/1592 1%
Hepatocellular Carcinoma
4/46 9%
27/2210 1%
Ovarian Carcinoma
7/109 6%
8/998 1%
Mesothelioma
2/62 3%
1/165 1%
Biliary Tract Carcinoma
1/54 2%
11/950 1%

Mutation Distribution

Where ITGB4 is mutated · all tissues, split by cell line vs tissue

Mutation counts by tissue
Mutation Distribution

How many mutations in ITGB4 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 3,675 mutations in ITGB4

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