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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: 37899

FusionGeneSummary for TGFBI_SH3PXD2A

check button Fusion gene summary
Fusion gene informationFusion gene name: TGFBI_SH3PXD2A
Fusion gene ID: 37899
HgeneTgene
Gene symbol

TGFBI

SH3PXD2A

Gene ID

7045

9644

Gene nametransforming growth factor beta inducedSH3 and PX domains 2A
SynonymsBIGH3|CDB1|CDG2|CDGG1|CSD|CSD1|CSD2|CSD3|EBMD|LCD1FISH|SH3MD1|TKS5
Cytomap

5q31.1

10q24.33

Type of geneprotein-codingprotein-coding
Descriptiontransforming growth factor-beta-induced protein ig-h3RGD-CAPRGD-containing collagen-associated proteinbeta ig-h3betaig-h3kerato-epithelintransforming growth factor beta-induced 68kDatransforming growth factor, beta-induced, 68kDSH3 and PX domain-containing protein 2ASH3 multiple domains 1adapter protein TKS5adaptor protein TKS5five SH3 domain-containing proteintyrosine kinase substrate with five SH3 domains
Modification date2018052720180523
UniProtAcc

Q15582

Q5TCZ1

Ensembl transtripts involved in fusion geneENST00000442011, ENST00000305126, 
ENST00000508076, ENST00000504185, 
ENST00000427662, ENST00000369774, 
ENST00000355946, ENST00000315994, 
ENST00000540321, ENST00000538130, 
Fusion gene scores* DoF score9 X 8 X 4=28810 X 11 X 4=440
# samples 1011
** MAII scorelog2(10/288*10)=-1.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/440*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TGFBI [Title/Abstract] AND SH3PXD2A [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
TgeneSH3PXD2A

GO:0006801

superoxide metabolic process

19755710


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
ChiTaRS3.1AA367699TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
* 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
5CDS-intronENST00000442011ENST00000427662TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
5CDS-intronENST00000442011ENST00000369774TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
5CDS-intronENST00000442011ENST00000355946TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
5CDS-intronENST00000442011ENST00000315994TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
5CDS-intronENST00000442011ENST00000540321TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
5CDS-intronENST00000442011ENST00000538130TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
5CDS-intronENST00000305126ENST00000427662TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
5CDS-intronENST00000305126ENST00000369774TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
5CDS-intronENST00000305126ENST00000355946TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
5CDS-intronENST00000305126ENST00000315994TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
5CDS-intronENST00000305126ENST00000540321TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
5CDS-intronENST00000305126ENST00000538130TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
5UTR-intronENST00000508076ENST00000427662TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
5UTR-intronENST00000508076ENST00000369774TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
5UTR-intronENST00000508076ENST00000355946TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
5UTR-intronENST00000508076ENST00000315994TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
5UTR-intronENST00000508076ENST00000540321TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
5UTR-intronENST00000508076ENST00000538130TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
intron-intronENST00000504185ENST00000427662TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
intron-intronENST00000504185ENST00000369774TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
intron-intronENST00000504185ENST00000355946TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
intron-intronENST00000504185ENST00000315994TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
intron-intronENST00000504185ENST00000540321TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-
intron-intronENST00000504185ENST00000538130TGFBIchr5

135394815

-SH3PXD2Achr10

105402491

-

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FusionProtFeatures for TGFBI_SH3PXD2A


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

Q15582

SH3PXD2A

Q5TCZ1

Adapter protein involved in invadopodia and podosomeformation, extracellular matrix degradation and invasiveness ofsome cancer cells. Binds matrix metalloproteinases (ADAMs), NADPHoxidases (NOXs) and phosphoinositides. Acts as an organizerprotein that allows NOX1- or NOX3-dependent reactive oxygenspecies (ROS) generation and ROS localization. In association withADAM12, mediates the neurotoxic effect of amyloid-beta peptide.{ECO:0000269|PubMed:12615925, ECO:0000269|PubMed:15710328,ECO:0000269|PubMed:15710903, ECO:0000269|PubMed:19755710,ECO:0000269|PubMed:20609497}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for TGFBI_SH3PXD2A


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for TGFBI_SH3PXD2A


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


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


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


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RelatedDrugs for TGFBI_SH3PXD2A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TGFBI_SH3PXD2A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTGFBIC1690006Lattice corneal dystrophy Type I12CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC1641846Groenouw corneal dystrophy type I (disorder)7CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC1275685Avellino corneal dystrophy6CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC0339278Reis-Bucklers' corneal dystrophy5CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC1837974Corneal Dystrophy, Lattice Type IIIA5CTD_human;UNIPROT
HgeneTGFBIC1562894Thiel-Behnke corneal dystrophy4CTD_human;ORPHANET;UNIPROT
HgeneTGFBIC0000786Spontaneous abortion1CTD_human
HgeneTGFBIC0011881Diabetic Nephropathy1CTD_human
HgeneTGFBIC0521723Corneal dystrophy, epithelial basement membrane1CTD_human;ORPHANET;UNIPROT
TgeneSH3PXD2AC0036341Schizophrenia1PSYGENET