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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:ITGA3-CASC3

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ITGA3-CASC3
FusionPDB ID: 40418
FusionGDB2.0 ID: 40418
HgeneTgene
Gene symbol

ITGA3

CASC3

Gene ID

3675

22794

Gene nameintegrin subunit alpha 3CASC3 exon junction complex subunit
SynonymsCD49C|FRP-2|GAP-B3|GAPB3|ILNEB|MSK18|VCA-2|VL3A|VLA3aBTZ|MLN51
Cytomap

17q21.33

17q21.1

Type of geneprotein-codingprotein-coding
Descriptionintegrin alpha-3CD49 antigen-like family member Calpha 3 subunit of VLA-3 receptorantigen CD49Cantigen identified by monoclonal antibody J143galactoprotein B3integrin alpha 3integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)testiprotein CASC3MLN 51barentszcancer susceptibility 3cancer susceptibility candidate 3cancer susceptibility candidate gene 3 proteinmetastatic lymph node 51metastatic lymph node gene 51 proteinprotein barentsz
Modification date2020032020200313
UniProtAcc

P26006

O15234

Ensembl transtripts involved in fusion geneENST idsENST00000007722, ENST00000320031, 
ENST00000544892, 
ENST00000264645, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score9 X 10 X 7=63010 X 5 X 5=250
# samples 910
** MAII scorelog2(9/630*10)=-2.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/250*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ITGA3 [Title/Abstract] AND CASC3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ITGA3(48158772)-CASC3(38318006), # samples:1
Anticipated loss of major functional domain due to fusion event.ITGA3-CASC3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ITGA3-CASC3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ITGA3-CASC3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ITGA3-CASC3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneITGA3

GO:1903078

positive regulation of protein localization to plasma membrane

10455171

TgeneCASC3

GO:0000398

mRNA splicing, via spliceosome

29301961


check buttonFusion gene breakpoints across ITGA3 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across CASC3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4BLCATCGA-XF-A8HH-01AITGA3chr17

48158772

+CASC3chr17

38318006

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000320031ITGA3chr1748158772+ENST00000264645CASC3chr1738318006+6842324917450631629
ENST00000007722ITGA3chr1748158772+ENST00000264645CASC3chr1738318006+65122919047331577

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000320031ENST00000264645ITGA3chr1748158772+CASC3chr1738318006+0.0009970520.999003
ENST00000007722ENST00000264645ITGA3chr1748158772+CASC3chr1738318006+0.0006756380.99932444

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>40418_40418_1_ITGA3-CASC3_ITGA3_chr17_48158772_ENST00000007722_CASC3_chr17_38318006_ENST00000264645_length(amino acids)=1577AA_BP=973
MGPGPSRAPRAPRLMLCALALMVAAGGCVVSAFNLDTRFLVVKEAGNPGSLFGYSVALHRQTERQQRYLLLAGAPRELAVPDGYTNRTGA
VYLCPLTAHKDDCERMNITVKNDPGHHIIEDMWLGVTVASQGPAGRVLVCAHRYTQVLWSGSEDQRRMVGKCYVRGNDLELDSSDDWQTY
HNEMCNSNTDYLETGMCQLGTSGGFTQNTVYFGAPGAYNWKGNSYMIQRKEWDLSEYSYKDPEDQGNLYIGYTMQVGSFILHPKNITIVT
GAPRHRHMGAVFLLSQEAGGDLRRRQVLEGSQVGAYFGSAIALADLNNDGWQDLLVGAPYYFERKEEVGGAIYVFMNQAGTSFPAHPSLL
LHGPSGSAFGLSVASIGDINQDGFQDIAVGAPFEGLGKVYIYHSSSKGLLRQPQQVIHGEKLGLPGLATFGYSLSGQMDVDENFYPDLLV
GSLSDHIVLLRARPVINIVHKTLVPRPAVLDPALCTATSCVQVELCFAYNQSAGNPNYRRNITLAYTLEADRDRRPPRLRFAGSESAVFH
GFFSMPEMRCQKLELLLMDNLRDKLRPIIISMNYSLPLRMPDRPRLGLRSLDAYPILNQAQALENHTEVQFQKECGPDNKCESNLQMRAA
FVSEQQQKLSRLQYSRDVRKLLLSINVTNTRTSERSGEDAHEALLTLVVPPALLLSSVRPPGACQANETIFCELGNPFKRNQRMELLIAF
EVIGVTLHTRDLQVQLQLSTSSHQDNLWPMILTLLVDYTLQTSLSMVNHRLQSFFGGTVMGESGMKTVEDVGSPLKYEFQVGPMGEGLVG
LGTLVLGLEWPYEVSNGKWLLYPTEITVHGNGSWPCRPPGDLINPLNLTLSDPGDRPSSPQRRRRQLDPGGGQGPPPVTLAAAKKAKSET
VLTCATGRAHCVWLECPIPDAPVVTNVTVKARVWNSTFIEDYRDFDRVRVNGWATLFLRTSIPTINMENKTTWGEEGEYSEEENSKVELK
SEANDAVNSSTKEEKGEEKPDTKSTVTGERQSGDGQESTEPVENKVGKKGPKHLDDDEDRKNPAYIPRKGLFFEHDLRGQTQEEEVRPKG
RQRKLWKDEGRWEHDKFREDEQAPKSRQELIALYGYDIRSAHNPDDIKPRRIRKPRYGSPPQRDPNWNGERLNKSHRHQGLGGTLPPRTF
INRNAAGTGRMSAPRNYSRSGGFKEGRAGFRPVEAGGQHGGRSGETVKHEISYRSRRLEQTSVRDPSPEADAPVLGSPEKEEAASEPPAA
APDAAPPPPDRPIEKKSYSRARRTRTKVGDAVKLAEEVPPPPEGLIPAPPVPETTPTPPTKTGTWEAPVDSSTSGLEQDVAQLNIAEQNW
SPGQPSFLQPRELRGMPNHIHMGAGPPPQFNRMEEMGVQGGRAKRYSSQRQRPVPEPPAPPVHISIMEGHYYDPLQFQGPIYTHGDSPAP
LPPQGMLVQPGMNLPHPGLHPHQTPAPLPNPGLYPPPVSMSPGQPPPQQLLAPTYFSAPGVMNFGNPSYPYAPGALPPPPPPHLYPNTQA

--------------------------------------------------------------

>40418_40418_2_ITGA3-CASC3_ITGA3_chr17_48158772_ENST00000320031_CASC3_chr17_38318006_ENST00000264645_length(amino acids)=1629AA_BP=1025
MGLGARNRSALRSAAAGGFQCPPAARGAGEQVLTPSSAPSRALAGTPLPLAAMGPGPSRAPRAPRLMLCALALMVAAGGCVVSAFNLDTR
FLVVKEAGNPGSLFGYSVALHRQTERQQRYLLLAGAPRELAVPDGYTNRTGAVYLCPLTAHKDDCERMNITVKNDPGHHIIEDMWLGVTV
ASQGPAGRVLVCAHRYTQVLWSGSEDQRRMVGKCYVRGNDLELDSSDDWQTYHNEMCNSNTDYLETGMCQLGTSGGFTQNTVYFGAPGAY
NWKGNSYMIQRKEWDLSEYSYKDPEDQGNLYIGYTMQVGSFILHPKNITIVTGAPRHRHMGAVFLLSQEAGGDLRRRQVLEGSQVGAYFG
SAIALADLNNDGWQDLLVGAPYYFERKEEVGGAIYVFMNQAGTSFPAHPSLLLHGPSGSAFGLSVASIGDINQDGFQDIAVGAPFEGLGK
VYIYHSSSKGLLRQPQQVIHGEKLGLPGLATFGYSLSGQMDVDENFYPDLLVGSLSDHIVLLRARPVINIVHKTLVPRPAVLDPALCTAT
SCVQVELCFAYNQSAGNPNYRRNITLAYTLEADRDRRPPRLRFAGSESAVFHGFFSMPEMRCQKLELLLMDNLRDKLRPIIISMNYSLPL
RMPDRPRLGLRSLDAYPILNQAQALENHTEVQFQKECGPDNKCESNLQMRAAFVSEQQQKLSRLQYSRDVRKLLLSINVTNTRTSERSGE
DAHEALLTLVVPPALLLSSVRPPGACQANETIFCELGNPFKRNQRMELLIAFEVIGVTLHTRDLQVQLQLSTSSHQDNLWPMILTLLVDY
TLQTSLSMVNHRLQSFFGGTVMGESGMKTVEDVGSPLKYEFQVGPMGEGLVGLGTLVLGLEWPYEVSNGKWLLYPTEITVHGNGSWPCRP
PGDLINPLNLTLSDPGDRPSSPQRRRRQLDPGGGQGPPPVTLAAAKKAKSETVLTCATGRAHCVWLECPIPDAPVVTNVTVKARVWNSTF
IEDYRDFDRVRVNGWATLFLRTSIPTINMENKTTWGEEGEYSEEENSKVELKSEANDAVNSSTKEEKGEEKPDTKSTVTGERQSGDGQES
TEPVENKVGKKGPKHLDDDEDRKNPAYIPRKGLFFEHDLRGQTQEEEVRPKGRQRKLWKDEGRWEHDKFREDEQAPKSRQELIALYGYDI
RSAHNPDDIKPRRIRKPRYGSPPQRDPNWNGERLNKSHRHQGLGGTLPPRTFINRNAAGTGRMSAPRNYSRSGGFKEGRAGFRPVEAGGQ
HGGRSGETVKHEISYRSRRLEQTSVRDPSPEADAPVLGSPEKEEAASEPPAAAPDAAPPPPDRPIEKKSYSRARRTRTKVGDAVKLAEEV
PPPPEGLIPAPPVPETTPTPPTKTGTWEAPVDSSTSGLEQDVAQLNIAEQNWSPGQPSFLQPRELRGMPNHIHMGAGPPPQFNRMEEMGV
QGGRAKRYSSQRQRPVPEPPAPPVHISIMEGHYYDPLQFQGPIYTHGDSPAPLPPQGMLVQPGMNLPHPGLHPHQTPAPLPNPGLYPPPV
SMSPGQPPPQQLLAPTYFSAPGVMNFGNPSYPYAPGALPPPPPPHLYPNTQAPSQVYGGVTYYNPAQQQVQPKPSPPRRTPQPVTIKPPP

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr17:48158772/chr17:38318006)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ITGA3

P26006

CASC3

O15234

FUNCTION: Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4. Integrin alpha-3/beta-1 provides a docking site for FAP (seprase) at invadopodia plasma membranes in a collagen-dependent manner and hence may participate in the adhesion, formation of invadopodia and matrix degradation processes, promoting cell invasion. Alpha-3/beta-1 may mediate with LGALS3 the stimulation by CSPG4 of endothelial cells migration. {ECO:0000269|PubMed:10455171, ECO:0000269|PubMed:15181153}.FUNCTION: Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:29301961). Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). Stimulates the ATPase and RNA-helicase activities of EIF4A3. Plays a role in the stress response by participating in cytoplasmic stress granules assembly and by favoring cell recovery following stress. Component of the dendritic ribonucleoprotein particles (RNPs) in hippocampal neurons. May play a role in mRNA transport. Binds spliced mRNA in sequence-independent manner, 20-24 nucleotides upstream of mRNA exon-exon junctions. Binds poly(G) and poly(U) RNA homopolymer. {ECO:0000269|PubMed:17375189, ECO:0000269|PubMed:17652158, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:29301961}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITGA3chr17:48158772chr17:38318006ENST00000007722+2325315_323973.01067.0Calcium bindingOntology_term=ECO:0000255
HgeneITGA3chr17:48158772chr17:38318006ENST00000007722+2325378_386973.01067.0Calcium bindingOntology_term=ECO:0000255
HgeneITGA3chr17:48158772chr17:38318006ENST00000007722+2325439_447973.01067.0Calcium bindingOntology_term=ECO:0000255
HgeneITGA3chr17:48158772chr17:38318006ENST00000320031+2326315_323973.01330.3333333333333Calcium bindingOntology_term=ECO:0000255
HgeneITGA3chr17:48158772chr17:38318006ENST00000320031+2326378_386973.01330.3333333333333Calcium bindingOntology_term=ECO:0000255
HgeneITGA3chr17:48158772chr17:38318006ENST00000320031+2326439_447973.01330.3333333333333Calcium bindingOntology_term=ECO:0000255
HgeneITGA3chr17:48158772chr17:38318006ENST00000007722+2325110_171973.01067.0RepeatFG-GAP 2
HgeneITGA3chr17:48158772chr17:38318006ENST00000007722+2325185_235973.01067.0RepeatFG-GAP 3
HgeneITGA3chr17:48158772chr17:38318006ENST00000007722+2325236_292973.01067.0RepeatFG-GAP 4
HgeneITGA3chr17:48158772chr17:38318006ENST00000007722+2325293_354973.01067.0RepeatFG-GAP 5
HgeneITGA3chr17:48158772chr17:38318006ENST00000007722+2325356_411973.01067.0RepeatFG-GAP 6
HgeneITGA3chr17:48158772chr17:38318006ENST00000007722+232538_103973.01067.0RepeatFG-GAP 1
HgeneITGA3chr17:48158772chr17:38318006ENST00000007722+2325415_477973.01067.0RepeatFG-GAP 7
HgeneITGA3chr17:48158772chr17:38318006ENST00000320031+2326110_171973.01330.3333333333333RepeatFG-GAP 2
HgeneITGA3chr17:48158772chr17:38318006ENST00000320031+2326185_235973.01330.3333333333333RepeatFG-GAP 3
HgeneITGA3chr17:48158772chr17:38318006ENST00000320031+2326236_292973.01330.3333333333333RepeatFG-GAP 4
HgeneITGA3chr17:48158772chr17:38318006ENST00000320031+2326293_354973.01330.3333333333333RepeatFG-GAP 5
HgeneITGA3chr17:48158772chr17:38318006ENST00000320031+2326356_411973.01330.3333333333333RepeatFG-GAP 6
HgeneITGA3chr17:48158772chr17:38318006ENST00000320031+232638_103973.01330.3333333333333RepeatFG-GAP 1
HgeneITGA3chr17:48158772chr17:38318006ENST00000320031+2326415_477973.01330.3333333333333RepeatFG-GAP 7
TgeneCASC3chr17:48158772chr17:38318006ENST00000264645214392_39599.01130.6666666666667Compositional biasNote=Poly-Pro
TgeneCASC3chr17:48158772chr17:38318006ENST00000264645214425_42899.01130.6666666666667Compositional biasNote=Poly-Pro
TgeneCASC3chr17:48158772chr17:38318006ENST00000264645214643_64899.01130.6666666666667Compositional biasNote=Poly-Pro
TgeneCASC3chr17:48158772chr17:38318006ENST00000264645214692_69599.01130.6666666666667Compositional biasNote=Poly-Pro
TgeneCASC3chr17:48158772chr17:38318006ENST00000264645214204_21099.01130.6666666666667MotifNuclear localization signal 1
TgeneCASC3chr17:48158772chr17:38318006ENST00000264645214254_26299.01130.6666666666667MotifNuclear localization signal 2
TgeneCASC3chr17:48158772chr17:38318006ENST00000264645214462_46699.01130.6666666666667MotifNote=Nuclear export signal
TgeneCASC3chr17:48158772chr17:38318006ENST00000264645214137_28399.01130.6666666666667RegionNote=Sufficient to form the EJC
TgeneCASC3chr17:48158772chr17:38318006ENST00000264645214377_70399.01130.6666666666667RegionNote=Necessary for localization in cytoplasmic stress granules

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITGA3chr17:48158772chr17:38318006ENST00000007722+23251017_1021973.01067.0MotifNote=GFFKR motif
HgeneITGA3chr17:48158772chr17:38318006ENST00000320031+23261017_1021973.01330.3333333333333MotifNote=GFFKR motif
HgeneITGA3chr17:48158772chr17:38318006ENST00000007722+23251015_1051973.01067.0Topological domainCytoplasmic
HgeneITGA3chr17:48158772chr17:38318006ENST00000007722+232533_991973.01067.0Topological domainExtracellular
HgeneITGA3chr17:48158772chr17:38318006ENST00000320031+23261015_1051973.01330.3333333333333Topological domainCytoplasmic
HgeneITGA3chr17:48158772chr17:38318006ENST00000320031+232633_991973.01330.3333333333333Topological domainExtracellular
HgeneITGA3chr17:48158772chr17:38318006ENST00000007722+2325992_1014973.01067.0TransmembraneHelical
HgeneITGA3chr17:48158772chr17:38318006ENST00000320031+2326992_1014973.01330.3333333333333TransmembraneHelical
TgeneCASC3chr17:48158772chr17:38318006ENST0000026464521495_13199.01130.6666666666667Coiled coilOntology_term=ECO:0000255
TgeneCASC3chr17:48158772chr17:38318006ENST0000026464521441_4699.01130.6666666666667Compositional biasNote=Poly-Gly


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
ITGA3
CASC3


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneITGA3chr17:48158772chr17:38318006ENST00000007722+23251015_1021973.01067.0HPS5
HgeneITGA3chr17:48158772chr17:38318006ENST00000320031+23261015_1021973.01330.3333333333333HPS5


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Related Drugs to ITGA3-CASC3


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to ITGA3-CASC3


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource