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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:ITGA9-SMOC2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ITGA9-SMOC2
FusionPDB ID: 40473
FusionGDB2.0 ID: 40473
HgeneTgene
Gene symbol

ITGA9

SMOC2

Gene ID

3680

64094

Gene nameintegrin subunit alpha 9SPARC related modular calcium binding 2
SynonymsALPHA-RLC|ITGA4L|RLCDTDP1|MST117|MSTP117|MSTP140|SMAP2|bA270C4A.1|bA37D8.1|dJ421D16.1
Cytomap

3p22.2

6q27

Type of geneprotein-codingprotein-coding
Descriptionintegrin alpha-9integrin alpha-RLCSPARC-related modular calcium-binding protein 2SMAP-2SMOC-2secreted modular calcium-binding protein 2smooth muscle associated protein 2thyroglobulin type-1 repeat containing protein
Modification date2020031320200313
UniProtAcc

Q13797

.
Ensembl transtripts involved in fusion geneENST idsENST00000264741, ENST00000422441, 
ENST00000477998, ENST00000354536, 
ENST00000356284, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score12 X 8 X 10=96010 X 8 X 7=560
# samples 1310
** MAII scorelog2(13/960*10)=-2.88452278258006
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/560*10)=-2.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: ITGA9 [Title/Abstract] AND SMOC2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ITGA9(37584076)-SMOC2(168910594), # samples:1
Anticipated loss of major functional domain due to fusion event.ITGA9-SMOC2 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.
ITGA9-SMOC2 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.
ITGA9-SMOC2 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.
ITGA9-SMOC2 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
TgeneSMOC2

GO:0010595

positive regulation of endothelial cell migration

16774925

TgeneSMOC2

GO:0035470

positive regulation of vascular wound healing

16774925

TgeneSMOC2

GO:0045743

positive regulation of fibroblast growth factor receptor signaling pathway

16774925

TgeneSMOC2

GO:0045766

positive regulation of angiogenesis

16774925

TgeneSMOC2

GO:0045931

positive regulation of mitotic cell cycle

16774925

TgeneSMOC2

GO:1900748

positive regulation of vascular endothelial growth factor signaling pathway

16774925

TgeneSMOC2

GO:2000573

positive regulation of DNA biosynthetic process

16774925


check buttonFusion gene breakpoints across ITGA9 (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 SMOC2 (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
ChimerDB4Non-Cancer145NITGA9chr3

37584076

+SMOC2chr6

168910594

+


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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)
ENST00000264741ITGA9chr337584076+ENST00000356284SMOC2chr6168910594+475819452503201983
ENST00000264741ITGA9chr337584076+ENST00000354536SMOC2chr6168910594+479119452503234994
ENST00000422441ITGA9chr337584076+ENST00000356284SMOC2chr6168910594+476219492543205983
ENST00000422441ITGA9chr337584076+ENST00000354536SMOC2chr6168910594+479519492543238994

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
ENST00000264741ENST00000356284ITGA9chr337584076+SMOC2chr6168910594+0.0004470070.999553
ENST00000264741ENST00000354536ITGA9chr337584076+SMOC2chr6168910594+0.0004389830.999561
ENST00000422441ENST00000356284ITGA9chr337584076+SMOC2chr6168910594+0.0004499140.99955004
ENST00000422441ENST00000354536ITGA9chr337584076+SMOC2chr6168910594+0.0004413880.9995586

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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

>40473_40473_1_ITGA9-SMOC2_ITGA9_chr3_37584076_ENST00000264741_SMOC2_chr6_168910594_ENST00000354536_length(amino acids)=994AA_BP=564
MGMGGPAAPRGAGRLRALLLALVVAGIPAGAYNLDPQRPVHFQGPADSFFGYAVLEHFHDNTRWVLVGAPKADSKYSPSVKSPGAVFKCR
VHTNPDRRCTELDMARGKNRGTSCGKTCREDRDDEWMGVSLARQPKADGRVLACAHRWKNIYYEADHILPHGFCYIIPSNLQAKGRTLIP
CYEEYKKKYGEEHGSCQAGIAGFFTEELVVMGAPGSFYWAGTIKVLNLTDNTYLKLNDEVIMNRRYTYLGYAVTAGHFSHPSTIDVVGGA
PQDKGIGKVYIFRADRRSGTLIKIFQASGKKMGSYFGSSLCAVDLNGDGLSDLLVGAPMFSEIRDEGQVTVYINRGNGALEEQLALTGDG
AYNAHFGESIASLDDLDNDGFPDVAIGAPKEDDFAGAVYIYHGDAGGIVPQYSMKLSGQKINPVLRMFGQSISGGIDMDGNGYPDVTVGA
FMSDSVVLLRARPVITVDVSIFLPGSINITAPQCHDGQQPVNCLNVTTCFSFHGKHVPGEIGLNYVLMADVAKKEKGQMPRVYFVLLGET
MGQVTEKLQLTYMEETCRHYVAHVKFLRVDQDKDKDCSLDCAGSPQKPLCASDGRTFLSRCEFQRAKCKDPQLEIAYRGNCKDVSRCVAE
RKYTQEQARKEFQQVFIPECNDDGTYSQVQCHSYTGYCWCVTPNGRPISGTAVAHKTPRCPGSVNEKLPQREGTGKTVSLQIFSVLNSDD
AAAPALETQPQGDEEDIASRYPTLWTEQVKSRQNKTNKNSVSSCDQEHQSALEEAKQPKNDNVVIPECAHGGLYKPVQCHPSTGYCWCVL
VDTGRPIPGTSTRYEQPKCDNTARAHPAKARDLYKGRQLQGCPGAKKHEFLTSVLDALSTDMVHAASDPSSSSGRLSEPDPSHTLEERVV
HWYFKLLDKNSSGDIGKKEIKPFKRFLRKKSKPKKCVKKFVEYCDVNNDKSISVQELMGCLGVAKEDGKADTKKRHTPRGHAESTSNRQP

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

>40473_40473_2_ITGA9-SMOC2_ITGA9_chr3_37584076_ENST00000264741_SMOC2_chr6_168910594_ENST00000356284_length(amino acids)=983AA_BP=564
MGMGGPAAPRGAGRLRALLLALVVAGIPAGAYNLDPQRPVHFQGPADSFFGYAVLEHFHDNTRWVLVGAPKADSKYSPSVKSPGAVFKCR
VHTNPDRRCTELDMARGKNRGTSCGKTCREDRDDEWMGVSLARQPKADGRVLACAHRWKNIYYEADHILPHGFCYIIPSNLQAKGRTLIP
CYEEYKKKYGEEHGSCQAGIAGFFTEELVVMGAPGSFYWAGTIKVLNLTDNTYLKLNDEVIMNRRYTYLGYAVTAGHFSHPSTIDVVGGA
PQDKGIGKVYIFRADRRSGTLIKIFQASGKKMGSYFGSSLCAVDLNGDGLSDLLVGAPMFSEIRDEGQVTVYINRGNGALEEQLALTGDG
AYNAHFGESIASLDDLDNDGFPDVAIGAPKEDDFAGAVYIYHGDAGGIVPQYSMKLSGQKINPVLRMFGQSISGGIDMDGNGYPDVTVGA
FMSDSVVLLRARPVITVDVSIFLPGSINITAPQCHDGQQPVNCLNVTTCFSFHGKHVPGEIGLNYVLMADVAKKEKGQMPRVYFVLLGET
MGQVTEKLQLTYMEETCRHYVAHVKFLRVDQDKDKDCSLDCAGSPQKPLCASDGRTFLSRCEFQRAKCKDPQLEIAYRGNCKDVSRCVAE
RKYTQEQARKEFQQVFIPECNDDGTYSQVQCHSYTGYCWCVTPNGRPISGTAVAHKTPRCPGSVNEKLPQREGTGKTDDAAAPALETQPQ
GDEEDIASRYPTLWTEQVKSRQNKTNKNSVSSCDQEHQSALEEAKQPKNDNVVIPECAHGGLYKPVQCHPSTGYCWCVLVDTGRPIPGTS
TRYEQPKCDNTARAHPAKARDLYKGRQLQGCPGAKKHEFLTSVLDALSTDMVHAASDPSSSSGRLSEPDPSHTLEERVVHWYFKLLDKNS

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

>40473_40473_3_ITGA9-SMOC2_ITGA9_chr3_37584076_ENST00000422441_SMOC2_chr6_168910594_ENST00000354536_length(amino acids)=994AA_BP=564
MGMGGPAAPRGAGRLRALLLALVVAGIPAGAYNLDPQRPVHFQGPADSFFGYAVLEHFHDNTRWVLVGAPKADSKYSPSVKSPGAVFKCR
VHTNPDRRCTELDMARGKNRGTSCGKTCREDRDDEWMGVSLARQPKADGRVLACAHRWKNIYYEADHILPHGFCYIIPSNLQAKGRTLIP
CYEEYKKKYGEEHGSCQAGIAGFFTEELVVMGAPGSFYWAGTIKVLNLTDNTYLKLNDEVIMNRRYTYLGYAVTAGHFSHPSTIDVVGGA
PQDKGIGKVYIFRADRRSGTLIKIFQASGKKMGSYFGSSLCAVDLNGDGLSDLLVGAPMFSEIRDEGQVTVYINRGNGALEEQLALTGDG
AYNAHFGESIASLDDLDNDGFPDVAIGAPKEDDFAGAVYIYHGDAGGIVPQYSMKLSGQKINPVLRMFGQSISGGIDMDGNGYPDVTVGA
FMSDSVVLLRARPVITVDVSIFLPGSINITAPQCHDGQQPVNCLNVTTCFSFHGKHVPGEIGLNYVLMADVAKKEKGQMPRVYFVLLGET
MGQVTEKLQLTYMEETCRHYVAHVKFLRVDQDKDKDCSLDCAGSPQKPLCASDGRTFLSRCEFQRAKCKDPQLEIAYRGNCKDVSRCVAE
RKYTQEQARKEFQQVFIPECNDDGTYSQVQCHSYTGYCWCVTPNGRPISGTAVAHKTPRCPGSVNEKLPQREGTGKTVSLQIFSVLNSDD
AAAPALETQPQGDEEDIASRYPTLWTEQVKSRQNKTNKNSVSSCDQEHQSALEEAKQPKNDNVVIPECAHGGLYKPVQCHPSTGYCWCVL
VDTGRPIPGTSTRYEQPKCDNTARAHPAKARDLYKGRQLQGCPGAKKHEFLTSVLDALSTDMVHAASDPSSSSGRLSEPDPSHTLEERVV
HWYFKLLDKNSSGDIGKKEIKPFKRFLRKKSKPKKCVKKFVEYCDVNNDKSISVQELMGCLGVAKEDGKADTKKRHTPRGHAESTSNRQP

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

>40473_40473_4_ITGA9-SMOC2_ITGA9_chr3_37584076_ENST00000422441_SMOC2_chr6_168910594_ENST00000356284_length(amino acids)=983AA_BP=564
MGMGGPAAPRGAGRLRALLLALVVAGIPAGAYNLDPQRPVHFQGPADSFFGYAVLEHFHDNTRWVLVGAPKADSKYSPSVKSPGAVFKCR
VHTNPDRRCTELDMARGKNRGTSCGKTCREDRDDEWMGVSLARQPKADGRVLACAHRWKNIYYEADHILPHGFCYIIPSNLQAKGRTLIP
CYEEYKKKYGEEHGSCQAGIAGFFTEELVVMGAPGSFYWAGTIKVLNLTDNTYLKLNDEVIMNRRYTYLGYAVTAGHFSHPSTIDVVGGA
PQDKGIGKVYIFRADRRSGTLIKIFQASGKKMGSYFGSSLCAVDLNGDGLSDLLVGAPMFSEIRDEGQVTVYINRGNGALEEQLALTGDG
AYNAHFGESIASLDDLDNDGFPDVAIGAPKEDDFAGAVYIYHGDAGGIVPQYSMKLSGQKINPVLRMFGQSISGGIDMDGNGYPDVTVGA
FMSDSVVLLRARPVITVDVSIFLPGSINITAPQCHDGQQPVNCLNVTTCFSFHGKHVPGEIGLNYVLMADVAKKEKGQMPRVYFVLLGET
MGQVTEKLQLTYMEETCRHYVAHVKFLRVDQDKDKDCSLDCAGSPQKPLCASDGRTFLSRCEFQRAKCKDPQLEIAYRGNCKDVSRCVAE
RKYTQEQARKEFQQVFIPECNDDGTYSQVQCHSYTGYCWCVTPNGRPISGTAVAHKTPRCPGSVNEKLPQREGTGKTDDAAAPALETQPQ
GDEEDIASRYPTLWTEQVKSRQNKTNKNSVSSCDQEHQSALEEAKQPKNDNVVIPECAHGGLYKPVQCHPSTGYCWCVLVDTGRPIPGTS
TRYEQPKCDNTARAHPAKARDLYKGRQLQGCPGAKKHEFLTSVLDALSTDMVHAASDPSSSSGRLSEPDPSHTLEERVVHWYFKLLDKNS

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

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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/chr3:37584076/chr6:168910594)
- 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
ITGA9

Q13797

.
FUNCTION: Integrin alpha-9/beta-1 (ITGA9:ITGB1) is a receptor for VCAM1, cytotactin and osteopontin. It recognizes the sequence A-E-I-D-G-I-E-L in cytotactin. {ECO:0000250}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneITGA9chr3:37584076chr6:168910594ENST00000264741+1528312_320563.01036.0Calcium bindingOntology_term=ECO:0000255
HgeneITGA9chr3:37584076chr6:168910594ENST00000264741+1528373_381563.01036.0Calcium bindingOntology_term=ECO:0000255
HgeneITGA9chr3:37584076chr6:168910594ENST00000264741+1528435_443563.01036.0Calcium bindingOntology_term=ECO:0000255
HgeneITGA9chr3:37584076chr6:168910594ENST00000264741+1528111_174563.01036.0RepeatFG-GAP 2
HgeneITGA9chr3:37584076chr6:168910594ENST00000264741+1528182_232563.01036.0RepeatFG-GAP 3
HgeneITGA9chr3:37584076chr6:168910594ENST00000264741+1528233_289563.01036.0RepeatFG-GAP 4
HgeneITGA9chr3:37584076chr6:168910594ENST00000264741+1528290_349563.01036.0RepeatFG-GAP 5
HgeneITGA9chr3:37584076chr6:168910594ENST00000264741+1528351_408563.01036.0RepeatFG-GAP 6
HgeneITGA9chr3:37584076chr6:168910594ENST00000264741+152835_96563.01036.0RepeatFG-GAP 1
HgeneITGA9chr3:37584076chr6:168910594ENST00000264741+1528411_474563.01036.0RepeatFG-GAP 7
TgeneSMOC2chr3:37584076chr6:168910594ENST00000354536013360_37128.0458.0Calcium binding1
TgeneSMOC2chr3:37584076chr6:168910594ENST00000354536013397_40828.0458.0Calcium binding2
TgeneSMOC2chr3:37584076chr6:168910594ENST00000356284013360_37128.0447.0Calcium binding1
TgeneSMOC2chr3:37584076chr6:168910594ENST00000356284013397_40828.0447.0Calcium binding2
TgeneSMOC2chr3:37584076chr6:168910594ENST00000354536013213_28128.0458.0DomainThyroglobulin type-1 2
TgeneSMOC2chr3:37584076chr6:168910594ENST00000354536013347_38228.0458.0DomainEF-hand 1
TgeneSMOC2chr3:37584076chr6:168910594ENST0000035453601334_8628.0458.0DomainKazal-like
TgeneSMOC2chr3:37584076chr6:168910594ENST00000354536013384_41928.0458.0DomainEF-hand 2
TgeneSMOC2chr3:37584076chr6:168910594ENST0000035453601387_15328.0458.0DomainThyroglobulin type-1 1
TgeneSMOC2chr3:37584076chr6:168910594ENST00000356284013213_28128.0447.0DomainThyroglobulin type-1 2
TgeneSMOC2chr3:37584076chr6:168910594ENST00000356284013347_38228.0447.0DomainEF-hand 1
TgeneSMOC2chr3:37584076chr6:168910594ENST0000035628401334_8628.0447.0DomainKazal-like
TgeneSMOC2chr3:37584076chr6:168910594ENST00000356284013384_41928.0447.0DomainEF-hand 2
TgeneSMOC2chr3:37584076chr6:168910594ENST0000035628401387_15328.0447.0DomainThyroglobulin type-1 1

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneITGA9chr3:37584076chr6:168910594ENST00000264741+15281005_1009563.01036.0MotifNote=GFFKR motif
HgeneITGA9chr3:37584076chr6:168910594ENST00000264741+15281003_1035563.01036.0Topological domainCytoplasmic
HgeneITGA9chr3:37584076chr6:168910594ENST00000264741+152830_981563.01036.0Topological domainExtracellular
HgeneITGA9chr3:37584076chr6:168910594ENST00000264741+1528982_1002563.01036.0TransmembraneHelical


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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
ITGA9
SMOC2


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


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Related Drugs to ITGA9-SMOC2


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 ITGA9-SMOC2


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