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Fusion gene ID: 17827 |
FusionGeneSummary for ITGA5_AZI2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: ITGA5_AZI2 | Fusion gene ID: 17827 | Hgene | Tgene | Gene symbol | ITGA5 | AZI2 | Gene ID | 3678 | 113451 |
Gene name | integrin subunit alpha 5 | antizyme inhibitor 2 | |
Synonyms | CD49e|FNRA|VLA-5|VLA5A | ADC|AZI2|AZIB1|ODC-p|ODC1L|ODCp | |
Cytomap | 12q13.13 | 1p35.1 | |
Type of gene | protein-coding | protein-coding | |
Description | integrin alpha-5CD49 antigen-like family member EITGA5/SLC9B1 fusionfibronectin receptor subunit alphafibronectin receptor, alpha polypeptidefibronectin receptor, alpha subunitintegrin alpha-Fintegrin, alpha 5 (fibronectin receptor, alpha polypepti | antizyme inhibitor 2ODC antizyme inhibitor-2ODC-like proteinODC-paraloguearginine decarboxylaseornithine decarboxylase likeornithine decarboxylase-like proteinornithine decarboxylase-paralog | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | P08648 | Q9H6S1 | |
Ensembl transtripts involved in fusion gene | ENST00000293379, ENST00000547744, | ENST00000479665, ENST00000295748, ENST00000334100, ENST00000420543, ENST00000457172, | |
Fusion gene scores | * DoF score | 3 X 4 X 4=48 | 2 X 2 X 1=4 |
# samples | 4 | 2 | |
** MAII score | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: ITGA5 [Title/Abstract] AND AZI2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ITGA5 | GO:0033627 | cell adhesion mediated by integrin | 12807887|17158881 |
Tgene | AZI2 | GO:0042177 | negative regulation of protein catabolic process | 17900240 |
Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * All genome coordinats were lifted-over on hg19. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | AK123678 | ITGA5 | chr12 | 54790061 | + | AZI2 | chr3 | 28390286 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-5UTR | ENST00000293379 | ENST00000479665 | ITGA5 | chr12 | 54790061 | + | AZI2 | chr3 | 28390286 | - |
intron-5UTR | ENST00000293379 | ENST00000295748 | ITGA5 | chr12 | 54790061 | + | AZI2 | chr3 | 28390286 | - |
intron-intron | ENST00000293379 | ENST00000334100 | ITGA5 | chr12 | 54790061 | + | AZI2 | chr3 | 28390286 | - |
intron-5UTR | ENST00000293379 | ENST00000420543 | ITGA5 | chr12 | 54790061 | + | AZI2 | chr3 | 28390286 | - |
intron-5UTR | ENST00000293379 | ENST00000457172 | ITGA5 | chr12 | 54790061 | + | AZI2 | chr3 | 28390286 | - |
intron-5UTR | ENST00000547744 | ENST00000479665 | ITGA5 | chr12 | 54790061 | + | AZI2 | chr3 | 28390286 | - |
intron-5UTR | ENST00000547744 | ENST00000295748 | ITGA5 | chr12 | 54790061 | + | AZI2 | chr3 | 28390286 | - |
intron-intron | ENST00000547744 | ENST00000334100 | ITGA5 | chr12 | 54790061 | + | AZI2 | chr3 | 28390286 | - |
intron-5UTR | ENST00000547744 | ENST00000420543 | ITGA5 | chr12 | 54790061 | + | AZI2 | chr3 | 28390286 | - |
intron-5UTR | ENST00000547744 | ENST00000457172 | ITGA5 | chr12 | 54790061 | + | AZI2 | chr3 | 28390286 | - |
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FusionProtFeatures for ITGA5_AZI2 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ITGA5 | AZI2 |
Integrin alpha-5/beta-1 (ITGA5:ITGB1) is a receptor forfibronectin and fibrinogen. It recognizes the sequence R-G-D inits ligands. ITGA5:ITGB1 binds to PLA2G2A via a site (site 2)which is distinct from the classical ligand-binding site (site 1)and this induces integrin conformational changes and enhancedligand binding to site 1 (PubMed:18635536, PubMed:25398877).ITGA5:ITGB1 acts as a receptor for fibrillin-1 (FBN1) and mediatesR-G-D-dependent cell adhesion to FBN1 (PubMed:12807887,PubMed:17158881). ITGA5:ITGB1 is a receptor for IL1B and bindingis essential for IL1B signaling (PubMed:29030430).{ECO:0000269|PubMed:12807887, ECO:0000269|PubMed:17158881,ECO:0000269|PubMed:18635536, ECO:0000269|PubMed:25398877,ECO:0000269|PubMed:29030430}. (Microbial infection) Integrin ITGA5:ITGB1 acts as areceptor for Human metapneumovirus. {ECO:0000269|PubMed:12907437}. (Microbial infection) Integrin ITGA2:ITGB1 acts as areceptor for Human parvovirus B19. {ECO:0000269|PubMed:24478423}. (Microbial infection) In case of HIV-1 infection, theinteraction with extracellular viral Tat protein seems to enhanceangiogenesis in Kaposi's sarcoma lesions.{ECO:0000269|PubMed:10397733}. | Adapter protein which binds TBK1 and IKBKE playing arole in antiviral innate immunity. Activates serine/threonine-protein kinase TBK1 and facilitates its oligomerization. Enhancesthe phosphorylation of NF-kappa-B p65 subunit RELA by TBK1.Promotes TBK1-induced as well as TNF-alpha or PMA-inducedactivation of NF-kappa-B. Participates in IFNB promoter activationvia TICAM1. {ECO:0000269|PubMed:14560022,ECO:0000269|PubMed:15611223, ECO:0000269|PubMed:21931631}. |
Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * Minus value of BPloci means that the break pointn is located before the CDS. |
- In-frame and retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for ITGA5_AZI2 |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for ITGA5_AZI2 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ITGA5_AZI2 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for ITGA5_AZI2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ITGA5 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
Hgene | ITGA5 | C0017639 | Gliosis | 1 | CTD_human |
Hgene | ITGA5 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Hgene | ITGA5 | C0035126 | Reperfusion Injury | 1 | CTD_human |
Hgene | ITGA5 | C0038356 | Stomach Neoplasms | 1 | CTD_human |