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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: 37903

FusionGeneSummary for TGFBR1_CANX

check button Fusion gene summary
Fusion gene informationFusion gene name: TGFBR1_CANX
Fusion gene ID: 37903
HgeneTgene
Gene symbol

TGFBR1

CANX

Gene ID

7046

821

Gene nametransforming growth factor beta receptor 1calnexin
SynonymsAAT5|ACVRLK4|ALK-5|ALK5|ESS1|LDS1|LDS1A|LDS2A|MSSE|SKR4|TBR-i|TBRI|TGFR-1|tbetaR-ICNX|IP90|P90
Cytomap

9q22.33

5q35.3

Type of geneprotein-codingprotein-coding
DescriptionTGF-beta receptor type-1activin A receptor type II-like kinase, 53kDaactivin A receptor type II-like protein kinase of 53kDactivin receptor-like kinase 5mutant transforming growth factor beta receptor Iserine/threonine-protein kinase receptor R4trancalnexinmajor histocompatibility complex class I antigen-binding protein p88
Modification date2018052320180522
UniProtAcc

P36897

P27824

Ensembl transtripts involved in fusion geneENST00000374994, ENST00000374990, 
ENST00000552516, ENST00000550253, 
ENST00000504734, ENST00000415618, 
ENST00000452673, ENST00000247461, 
ENST00000512607, ENST00000503126, 
Fusion gene scores* DoF score2 X 2 X 2=89 X 12 X 1=108
# samples 212
** MAII scorelog2(2/8*10)=1.32192809488736log2(12/108*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TGFBR1 [Title/Abstract] AND CANX [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
HgeneTGFBR1

GO:0000186

activation of MAPKK activity

18625725

HgeneTGFBR1

GO:0001837

epithelial to mesenchymal transition

15761148

HgeneTGFBR1

GO:0006355

regulation of transcription, DNA-templated

14517293

HgeneTGFBR1

GO:0006468

protein phosphorylation

12015308|12065756

HgeneTGFBR1

GO:0007165

signal transduction

14633705

HgeneTGFBR1

GO:0007179

transforming growth factor beta receptor signaling pathway

9389648|11157754

HgeneTGFBR1

GO:0010862

positive regulation of pathway-restricted SMAD protein phosphorylation

9311995|9389648

HgeneTGFBR1

GO:0018105

peptidyl-serine phosphorylation

15761148

HgeneTGFBR1

GO:0018107

peptidyl-threonine phosphorylation

19736306

HgeneTGFBR1

GO:0030307

positive regulation of cell growth

18625725

HgeneTGFBR1

GO:0030335

positive regulation of cell migration

19736306

HgeneTGFBR1

GO:0031396

regulation of protein ubiquitination

18758450

HgeneTGFBR1

GO:0045893

positive regulation of transcription, DNA-templated

9311995|9389648

HgeneTGFBR1

GO:0051897

positive regulation of protein kinase B signaling

18625725

HgeneTGFBR1

GO:0060389

pathway-restricted SMAD protein phosphorylation

11157754|12015308|18625725|19736306

HgeneTGFBR1

GO:0060391

positive regulation of SMAD protein signal transduction

9389648

HgeneTGFBR1

GO:0070723

response to cholesterol

17878231

HgeneTGFBR1

GO:0071560

cellular response to transforming growth factor beta stimulus

19494318

HgeneTGFBR1

GO:2001235

positive regulation of apoptotic signaling pathway

18758450


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
ChiTaRS3.1BE150450TGFBR1chr9

101915624

-CANXchr5

179155621

+
* 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
3UTR-3CDSENST00000374994ENST00000504734TGFBR1chr9

101915624

-CANXchr5

179155621

+
3UTR-3CDSENST00000374994ENST00000415618TGFBR1chr9

101915624

-CANXchr5

179155621

+
3UTR-3CDSENST00000374994ENST00000452673TGFBR1chr9

101915624

-CANXchr5

179155621

+
3UTR-3CDSENST00000374994ENST00000247461TGFBR1chr9

101915624

-CANXchr5

179155621

+
3UTR-3CDSENST00000374994ENST00000512607TGFBR1chr9

101915624

-CANXchr5

179155621

+
3UTR-intronENST00000374994ENST00000503126TGFBR1chr9

101915624

-CANXchr5

179155621

+
3UTR-3CDSENST00000374990ENST00000504734TGFBR1chr9

101915624

-CANXchr5

179155621

+
3UTR-3CDSENST00000374990ENST00000415618TGFBR1chr9

101915624

-CANXchr5

179155621

+
3UTR-3CDSENST00000374990ENST00000452673TGFBR1chr9

101915624

-CANXchr5

179155621

+
3UTR-3CDSENST00000374990ENST00000247461TGFBR1chr9

101915624

-CANXchr5

179155621

+
3UTR-3CDSENST00000374990ENST00000512607TGFBR1chr9

101915624

-CANXchr5

179155621

+
3UTR-intronENST00000374990ENST00000503126TGFBR1chr9

101915624

-CANXchr5

179155621

+
3UTR-3CDSENST00000552516ENST00000504734TGFBR1chr9

101915624

-CANXchr5

179155621

+
3UTR-3CDSENST00000552516ENST00000415618TGFBR1chr9

101915624

-CANXchr5

179155621

+
3UTR-3CDSENST00000552516ENST00000452673TGFBR1chr9

101915624

-CANXchr5

179155621

+
3UTR-3CDSENST00000552516ENST00000247461TGFBR1chr9

101915624

-CANXchr5

179155621

+
3UTR-3CDSENST00000552516ENST00000512607TGFBR1chr9

101915624

-CANXchr5

179155621

+
3UTR-intronENST00000552516ENST00000503126TGFBR1chr9

101915624

-CANXchr5

179155621

+
intron-3CDSENST00000550253ENST00000504734TGFBR1chr9

101915624

-CANXchr5

179155621

+
intron-3CDSENST00000550253ENST00000415618TGFBR1chr9

101915624

-CANXchr5

179155621

+
intron-3CDSENST00000550253ENST00000452673TGFBR1chr9

101915624

-CANXchr5

179155621

+
intron-3CDSENST00000550253ENST00000247461TGFBR1chr9

101915624

-CANXchr5

179155621

+
intron-3CDSENST00000550253ENST00000512607TGFBR1chr9

101915624

-CANXchr5

179155621

+
intron-intronENST00000550253ENST00000503126TGFBR1chr9

101915624

-CANXchr5

179155621

+

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FusionProtFeatures for TGFBR1_CANX


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TGFBR1

P36897

CANX

P27824

Transmembrane serine/threonine kinase forming with theTGF-beta type II serine/threonine kinase receptor, TGFBR2, thenon-promiscuous receptor for the TGF-beta cytokines TGFB1, TGFB2and TGFB3. Transduces the TGFB1, TGFB2 and TGFB3 signal from thecell surface to the cytoplasm and is thus regulating a plethora ofphysiological and pathological processes including cell cyclearrest in epithelial and hematopoietic cells, control ofmesenchymal cell proliferation and differentiation, wound healing,extracellular matrix production, immunosuppression andcarcinogenesis. The formation of the receptor complex composed of2 TGFBR1 and 2 TGFBR2 molecules symmetrically bound to thecytokine dimer results in the phosphorylation and the activationof TGFBR1 by the constitutively active TGFBR2. Activated TGFBR1phosphorylates SMAD2 which dissociates from the receptor andinteracts with SMAD4. The SMAD2-SMAD4 complex is subsequentlytranslocated to the nucleus where it modulates the transcriptionof the TGF-beta-regulated genes. This constitutes the canonicalSMAD-dependent TGF-beta signaling cascade. Also involved in non-canonical, SMAD-independent TGF-beta signaling pathways. Forinstance, TGFBR1 induces TRAF6 autoubiquitination which in turnresults in MAP3K7 ubiquitination and activation to triggerapoptosis. Also regulates epithelial to mesenchymal transitionthrough a SMAD-independent signaling pathway through PARD6Aphosphorylation and activation. {ECO:0000269|PubMed:15761148,ECO:0000269|PubMed:16754747, ECO:0000269|PubMed:18758450,ECO:0000269|PubMed:7774578, ECO:0000269|PubMed:8752209,ECO:0000269|PubMed:8980228, ECO:0000269|PubMed:9346908}. Calcium-binding protein that interacts with newlysynthesized glycoproteins in the endoplasmic reticulum. It may actin assisting protein assembly and/or in the retention within theER of unassembled protein subunits. It seems to play a major rolein the quality control apparatus of the ER by the retention ofincorrectly folded proteins. Associated with partial T-cellantigen receptor complexes that escape the ER of immaturethymocytes, it may function as a signaling complex regulatingthymocyte maturation. Additionally it may play a role in receptor-mediated endocytosis at the synapse.

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 TGFBR1_CANX


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 TGFBR1_CANX


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 TGFBR1_CANX


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCANXP27824DB00031TenecteplaseCalnexinbiotechapproved
TgeneCANXP27824DB11093Calcium CitrateCalnexinsmall moleculeapproved
TgeneCANXP27824DB11348Calcium PhosphateCalnexinsmall moleculeapproved
TgeneCANXP27824DB00025Antihemophilic factor, human recombinantCalnexinbiotechapproved|investigational

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RelatedDiseases for TGFBR1_CANX


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTGFBR1C1836635Loeys-Dietz Aortic Aneurysm Syndrome6ORPHANET;UNIPROT
HgeneTGFBR1C2697932Loeys-Dietz Syndrome2CTD_human
HgeneTGFBR1C0000786Spontaneous abortion1CTD_human
HgeneTGFBR1C0002949Aneurysm, Dissecting1CTD_human;HPO
HgeneTGFBR1C0009404Colorectal Neoplasms1CTD_human
HgeneTGFBR1C0037286Skin Neoplasms1CTD_human
HgeneTGFBR1C0041948Uremia1CTD_human
HgeneTGFBR1C0546476Multiple self-healing squamous epithelioma1CTD_human
HgeneTGFBR1C4083047MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO1ORPHANET;UNIPROT
TgeneCANXC0151744Myocardial Ischemia1CTD_human