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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 17829

FusionGeneSummary for ITGA5_MMP9

check button Fusion gene summary
Fusion gene informationFusion gene name: ITGA5_MMP9
Fusion gene ID: 17829
HgeneTgene
Gene symbol

ITGA5

MMP9

Gene ID

3678

4318

Gene nameintegrin subunit alpha 5matrix metallopeptidase 9
SynonymsCD49e|FNRA|VLA-5|VLA5ACLG4B|GELB|MANDP2|MMP-9
Cytomap

12q13.13

20q13.12

Type of geneprotein-codingprotein-coding
Descriptionintegrin 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 polypeptimatrix metalloproteinase-9macrophage gelatinasematrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)matrix metalloproteinase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)type V collagenase
Modification date2018052220180527
UniProtAcc

P08648

P14780

Ensembl transtripts involved in fusion geneENST00000293379, ENST00000547744, 
ENST00000372330, 
Fusion gene scores* DoF score3 X 4 X 4=485 X 4 X 5=100
# samples 45
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ITGA5 [Title/Abstract] AND MMP9 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneITGA5

GO:0033627

cell adhesion mediated by integrin

12807887|17158881

TgeneMMP9

GO:0006508

proteolysis

2551898|15863497|19022250|24164424

TgeneMMP9

GO:0034614

cellular response to reactive oxygen species

26514923

TgeneMMP9

GO:0043388

positive regulation of DNA binding

22984561

TgeneMMP9

GO:0071276

cellular response to cadmium ion

26514923

TgeneMMP9

GO:1900122

positive regulation of receptor binding

24164424

TgeneMMP9

GO:2001258

negative regulation of cation channel activity

24164424


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDSARCTCGA-HB-A2OT-01AITGA5chr12

54805618

-MMP9chr20

44642763

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000293379ENST00000372330ITGA5chr12

54805618

-MMP9chr20

44642763

+
intron-3CDSENST00000547744ENST00000372330ITGA5chr12

54805618

-MMP9chr20

44642763

+

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FusionProtFeatures for ITGA5_MMP9


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ITGA5

P08648

MMP9

P14780

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}. May play an essential role in local proteolysis of theextracellular matrix and in leukocyte migration. Could play a rolein bone osteoclastic resorption. Cleaves KiSS1 at a Gly-|-Leubond. Cleaves type IV and type V collagen into large C-terminalthree quarter fragments and shorter N-terminal one quarterfragments. Degrades fibronectin but not laminin or Pz-peptide.{ECO:0000269|PubMed:1480034}.

check buttonRetention 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

download page

.

* 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.
>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITGA5chr12:54805618chr20:44642763ENST00000293379-23043_1081161050RepeatFG-GAP 1
TgeneMMP9chr12:54805618chr20:44642763ENST00000372330+913610_657583708RepeatNote=Hemopexin 3
TgeneMMP9chr12:54805618chr20:44642763ENST00000372330+913658_704583708RepeatNote=Hemopexin 4

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITGA5chr12:54805618chr20:44642763ENST00000293379-230280_2881161050Calcium binding.
HgeneITGA5chr12:54805618chr20:44642763ENST00000293379-230334_3421161050Calcium binding.
HgeneITGA5chr12:54805618chr20:44642763ENST00000293379-230401_4091161050Calcium binding.
HgeneITGA5chr12:54805618chr20:44642763ENST00000293379-230465_4731161050Calcium binding.
HgeneITGA5chr12:54805618chr20:44642763ENST00000293379-2301024_10281161050MotifNote=GFFKR motif
HgeneITGA5chr12:54805618chr20:44642763ENST00000293379-230128_1881161050RepeatFG-GAP 2
HgeneITGA5chr12:54805618chr20:44642763ENST00000293379-230192_2451161050RepeatFG-GAP 3
HgeneITGA5chr12:54805618chr20:44642763ENST00000293379-230259_3111161050RepeatFG-GAP 4
HgeneITGA5chr12:54805618chr20:44642763ENST00000293379-230312_3771161050RepeatFG-GAP 5
HgeneITGA5chr12:54805618chr20:44642763ENST00000293379-230378_4371161050RepeatFG-GAP 6
HgeneITGA5chr12:54805618chr20:44642763ENST00000293379-230441_5041161050RepeatFG-GAP 7
HgeneITGA5chr12:54805618chr20:44642763ENST00000293379-2301022_10491161050Topological domainCytoplasmic
HgeneITGA5chr12:54805618chr20:44642763ENST00000293379-23042_9951161050Topological domainExtracellular
HgeneITGA5chr12:54805618chr20:44642763ENST00000293379-230996_10211161050TransmembraneHelical
TgeneMMP9chr12:54805618chr20:44642763ENST00000372330+913225_273583708DomainFibronectin type-II 1
TgeneMMP9chr12:54805618chr20:44642763ENST00000372330+913283_331583708DomainFibronectin type-II 2
TgeneMMP9chr12:54805618chr20:44642763ENST00000372330+913342_390583708DomainFibronectin type-II 3
TgeneMMP9chr12:54805618chr20:44642763ENST00000372330+91397_104583708MotifCysteine switch
TgeneMMP9chr12:54805618chr20:44642763ENST00000372330+913518_563583708RepeatNote=Hemopexin 1
TgeneMMP9chr12:54805618chr20:44642763ENST00000372330+913564_608583708RepeatNote=Hemopexin 2


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FusionGeneSequence for ITGA5_MMP9


check button 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.
>In-frame_ITGA5_ENST00000293379_chr12_54805618_-_MMP9_ENST00000372330_chr20_44642763_+_241aa
MGSRTPESPLHAVQLRWGPRRRPPLLPLLLLLLPPPPRVGGFNLDAEAPAVLSGPPGSFFGFSVEFYRPGTDGVSVLVGAPKANTSQPGV
LQGGAVYLCPWGASPTQCTPIEFDSKGRQVWVYTGASVLGPRRLDKLGLGADVAQVTGALRSGRGKMLLFSGRRLWRFDVKAQMVDPRSA


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_ITGA5_ENST00000293379_chr12_54805618_-_MMP9_ENST00000372330_chr20_44642763_+_723nt
ATGGGGAGCCGGACGCCAGAGTCCCCTCTCCACGCCGTGCAGCTGCGCTGGGGCCCCCGGCGCCGACCCCCGCTGCTGCCGCTGCTGTTG
CTGCTGCTGCCGCCGCCACCCAGGGTCGGGGGCTTCAACTTAGACGCGGAGGCCCCAGCAGTACTCTCGGGGCCCCCGGGCTCCTTCTTC
GGATTCTCAGTGGAGTTTTACCGGCCGGGAACAGACGGGGTCAGTGTGCTGGTGGGAGCACCCAAGGCTAATACCAGCCAGCCAGGAGTG
CTGCAGGGTGGTGCTGTCTACCTCTGTCCTTGGGGTGCCAGCCCCACACAGTGCACCCCCATTGAATTTGACAGCAAAGGGCGCCAGGTG
TGGGTGTACACAGGCGCGTCGGTGCTGGGCCCGAGGCGTCTGGACAAGCTGGGCCTGGGAGCCGACGTGGCCCAGGTGACCGGGGCCCTC
CGGAGTGGCAGGGGGAAGATGCTGCTGTTCAGCGGGCGGCGCCTCTGGAGGTTCGACGTGAAGGCGCAGATGGTGGATCCCCGGAGCGCC
AGCGAGGTGGACCGGATGTTCCCCGGGGTGCCTTTGGACACGCACGACGTCTTCCAGTACCGAGAGAAAGCCTATTTCTGCCAGGACCGC
TTCTACTGGCGCGTGAGTTCCCGGAGTGAGTTGAACCAGGTGGACCAAGTGGGCTACGTGACCTATGACATCCTGCAGTGCCCTGAGGAC


* Fusion transcript sequences (Full-length transcript).
>In-frame_ITGA5_ENST00000293379_chr12_54805618_-_MMP9_ENST00000372330_chr20_44642763_+_1178nt
AGTCCAGACAACCGGCTTCCAGCTGGGGCTGGGGAAAGGGGGTTGGAGGGGTGCGCCCCCCCCCCACGCCCCTTAGGGGTGGGGGACGCG
GGCTCAGAGTTCCAGGGACCCAGGAATGCCCCCCCGCCAGCCCCCTCGGCAGGCGGGGGGAGGGCTCAGCCGGGAGTTTGGCAAACTCCT
CCCCGCGTTGAGTCATTCGCCTCTGGGAGGTTTAGGAAGCGGCTCCGGGTCGGTGGCCCCAGGACAGGGAAGAGCGGGCGCTATGGGGAG
CCGGACGCCAGAGTCCCCTCTCCACGCCGTGCAGCTGCGCTGGGGCCCCCGGCGCCGACCCCCGCTGCTGCCGCTGCTGTTGCTGCTGCT
GCCGCCGCCACCCAGGGTCGGGGGCTTCAACTTAGACGCGGAGGCCCCAGCAGTACTCTCGGGGCCCCCGGGCTCCTTCTTCGGATTCTC
AGTGGAGTTTTACCGGCCGGGAACAGACGGGGTCAGTGTGCTGGTGGGAGCACCCAAGGCTAATACCAGCCAGCCAGGAGTGCTGCAGGG
TGGTGCTGTCTACCTCTGTCCTTGGGGTGCCAGCCCCACACAGTGCACCCCCATTGAATTTGACAGCAAAGGGCGCCAGGTGTGGGTGTA
CACAGGCGCGTCGGTGCTGGGCCCGAGGCGTCTGGACAAGCTGGGCCTGGGAGCCGACGTGGCCCAGGTGACCGGGGCCCTCCGGAGTGG
CAGGGGGAAGATGCTGCTGTTCAGCGGGCGGCGCCTCTGGAGGTTCGACGTGAAGGCGCAGATGGTGGATCCCCGGAGCGCCAGCGAGGT
GGACCGGATGTTCCCCGGGGTGCCTTTGGACACGCACGACGTCTTCCAGTACCGAGAGAAAGCCTATTTCTGCCAGGACCGCTTCTACTG
GCGCGTGAGTTCCCGGAGTGAGTTGAACCAGGTGGACCAAGTGGGCTACGTGACCTATGACATCCTGCAGTGCCCTGAGGACTAGGGCTC
CCGTCCTGCTTTGGCAGTGCCATGTAAATCCCCACTGGGACCAACCCTGGGGAAGGAGCCAGTTTGCCGGATACAAACTGGTATTCTGTT
CTGGAGGAAAGGGAGGAGTGGAGGTGGGCTGGGCCCTCTCTTCTCACCTTTGTTTTTTGTTGGAGTGTTTCTAATAAACTTGGATTCTCT


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FusionGenePPI for ITGA5_MMP9


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
ITGA5ILK, AUP1, CD9, GIPC1, L1CAM, FN1, RABIF, FGFR2, CBL, UBC, ITGB1, SHARPIN, FUBP1, EWSR1, HNRNPU, GRK6, STAMBP, FBXO6, SEL1L, ITGB5, ITGB3, LGALS8, ATP1A1, ATP1B3, LGALS3BP, CLK1, UBAP1, ANGPT2, CTDSPL, BTNL3, FAM19A4, ADAM32, CIB1MMP9CXCL5, CXCL6, TGFB1, THBS1, THBS2, CLU, COL12A1, TIMP1, COL2A1, COL14A1, COL5A1, COL6A2, COL4A1, FN1, COL4A2, COL6A1, COL18A1, SCARA3


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneITGA5chr12:54805618chr20:44642763ENST00000293379-2301021_10281161050HPS5


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for ITGA5_MMP9


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneMMP9P14780DB01197CaptoprilMatrix metalloproteinase-9small moleculeapproved
TgeneMMP9P14780DB01017MinocyclineMatrix metalloproteinase-9small moleculeapproved|investigational
TgeneMMP9P14780DB01296GlucosamineMatrix metalloproteinase-9small moleculeapproved|investigational
TgeneMMP9P14780DB01593ZincMatrix metalloproteinase-9small moleculeapproved|investigational
TgeneMMP9P14780DB00143GlutathioneMatrix metalloproteinase-9small moleculeapproved|investigational|nutraceutical

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RelatedDiseases for ITGA5_MMP9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneITGA5C0007137Squamous cell carcinoma1CTD_human
HgeneITGA5C0017639Gliosis1CTD_human
HgeneITGA5C0027626Neoplasm Invasiveness1CTD_human
HgeneITGA5C0035126Reperfusion Injury1CTD_human
HgeneITGA5C0038356Stomach Neoplasms1CTD_human
TgeneMMP9C0027626Neoplasm Invasiveness7CTD_human
TgeneMMP9C0027627Neoplasm Metastasis5CTD_human
TgeneMMP9C2937358Cerebral Hemorrhage5CTD_human
TgeneMMP9C0001973Alcoholic Intoxication, Chronic3PSYGENET
TgeneMMP9C0007621Neoplastic Cell Transformation3CTD_human
TgeneMMP9C0004096Asthma2CTD_human
TgeneMMP9C0005586Bipolar Disorder2PSYGENET
TgeneMMP9C0006663Calcinosis2CTD_human
TgeneMMP9C0011853Diabetes Mellitus, Experimental2CTD_human
TgeneMMP9C0021368Inflammation2CTD_human
TgeneMMP9C0023895Liver diseases2CTD_human
TgeneMMP9C0027051Myocardial Infarction2CTD_human
TgeneMMP9C0031099Periodontitis2CTD_human
TgeneMMP9C0036341Schizophrenia2PSYGENET
TgeneMMP9C0003486Aortic Aneurysm1CTD_human
TgeneMMP9C0003493Aortic Diseases1CTD_human
TgeneMMP9C0003496Aortic Rupture1CTD_human
TgeneMMP9C0004114Astrocytoma1CTD_human
TgeneMMP9C0005967Bone neoplasms1CTD_human
TgeneMMP9C0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneMMP9C0007137Squamous cell carcinoma1CTD_human
TgeneMMP9C0007786Brain Ischemia1CTD_human
TgeneMMP9C0009324Ulcerative Colitis1CTD_human
TgeneMMP9C0009375Colonic Neoplasms1CTD_human
TgeneMMP9C0011882Diabetic Neuropathies1CTD_human
TgeneMMP9C0017636Glioblastoma1CTD_human
TgeneMMP9C0020507Hyperplasia1CTD_human
TgeneMMP9C0020538Hypertensive disease1CTD_human
TgeneMMP9C0023176Lead Poisoning1CTD_human
TgeneMMP9C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneMMP9C0024117Chronic Obstructive Airway Disease1CTD_human
TgeneMMP9C0024143Lupus Nephritis1CTD_human
TgeneMMP9C0024668Mammary Neoplasms, Experimental1CTD_human
TgeneMMP9C0024796Marfan Syndrome1CTD_human
TgeneMMP9C0026552Morphine Dependence1CTD_human
TgeneMMP9C0026766Multiple Organ Failure1CTD_human
TgeneMMP9C0028754Obesity1CTD_human
TgeneMMP9C0029172Oral Submucous Fibrosis1CTD_human
TgeneMMP9C0030297Pancreatic Neoplasm1CTD_human
TgeneMMP9C0033578Prostatic Neoplasms1CTD_human
TgeneMMP9C0034067Pulmonary Emphysema1CTD_human
TgeneMMP9C0034069Pulmonary Fibrosis1CTD_human
TgeneMMP9C0035126Reperfusion Injury1CTD_human
TgeneMMP9C0035309Retinal Diseases1CTD_human
TgeneMMP9C0037286Skin Neoplasms1CTD_human
TgeneMMP9C0038358Gastric ulcer1CTD_human
TgeneMMP9C0038587Substance Withdrawal Syndrome1CTD_human
TgeneMMP9C0086132Depressive Symptoms1PSYGENET
TgeneMMP9C0151526Premature Birth1CTD_human
TgeneMMP9C0162871Aortic Aneurysm, Abdominal1CTD_human
TgeneMMP9C0162872Aortic Aneurysm, Thoracic1CTD_human
TgeneMMP9C0243026Sepsis1CTD_human
TgeneMMP9C0338831Manic1PSYGENET
TgeneMMP9C0340288Stable angina1CTD_human
TgeneMMP9C0432291Mandibuloacral dysostosis1CTD_human
TgeneMMP9C0740392Infarction, Middle Cerebral Artery1CTD_human
TgeneMMP9C0948089Acute Coronary Syndrome1CTD_human
TgeneMMP9C1458155Mammary Neoplasms1CTD_human
TgeneMMP9C1527311Brain Edema1CTD_human
TgeneMMP9C2239176Liver carcinoma1CTD_human
TgeneMMP9C2936380Neointima1CTD_human