FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 40207

FusionGeneSummary for TXNIP_DMD

check button Fusion gene summary
Fusion gene informationFusion gene name: TXNIP_DMD
Fusion gene ID: 40207
HgeneTgene
Gene symbol

TXNIP

DMD

Gene ID

10628

1756

Gene namethioredoxin interacting proteindystrophin
SynonymsARRDC6|EST01027|HHCPA78|THIF|VDUP1BMD|CMD3B|DXS142|DXS164|DXS206|DXS230|DXS239|DXS268|DXS269|DXS270|DXS272|MRX85
Cytomap

1q21.1

Xp21.2-p21.1

Type of geneprotein-codingprotein-coding
Descriptionthioredoxin-interacting proteinthioredoxin binding protein 2upregulated by 1,25-dihydroxyvitamin D-3vitamin D3 up-regulated protein 1dystrophin
Modification date2018052020180522
UniProtAcc

Q9H3M7

P11532

Ensembl transtripts involved in fusion geneENST00000369317, ENST00000475171, 
ENST00000378707, ENST00000359836, 
ENST00000541735, ENST00000343523, 
ENST00000378677, ENST00000357033, 
ENST00000474231, ENST00000378723, 
ENST00000378702, ENST00000361471, 
ENST00000378680, ENST00000288447, 
ENST00000445312, 
Fusion gene scores* DoF score4 X 5 X 1=2016 X 18 X 7=2016
# samples 518
** MAII scorelog2(5/20*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(18/2016*10)=-3.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TXNIP [Title/Abstract] AND DMD [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
HgeneTXNIP

GO:0030216

keratinocyte differentiation

14632196

HgeneTXNIP

GO:0051782

negative regulation of cell division

18541147

HgeneTXNIP

GO:0071228

cellular response to tumor cell

18541147

TgeneDMD

GO:0043043

peptide biosynthetic process

16000376


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
ChiTaRS3.1BF508150TXNIPchr1

145442459

-DMDchrX

32768992

+
* 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-intronENST00000369317ENST00000378707TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000369317ENST00000359836TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000369317ENST00000541735TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000369317ENST00000343523TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000369317ENST00000378677TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000369317ENST00000357033TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000369317ENST00000474231TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000369317ENST00000378723TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000369317ENST00000378702TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000369317ENST00000361471TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000369317ENST00000378680TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000369317ENST00000288447TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000369317ENST00000445312TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000475171ENST00000378707TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000475171ENST00000359836TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000475171ENST00000541735TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000475171ENST00000343523TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000475171ENST00000378677TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000475171ENST00000357033TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000475171ENST00000474231TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000475171ENST00000378723TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000475171ENST00000378702TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000475171ENST00000361471TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000475171ENST00000378680TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000475171ENST00000288447TXNIPchr1

145442459

-DMDchrX

32768992

+
3UTR-intronENST00000475171ENST00000445312TXNIPchr1

145442459

-DMDchrX

32768992

+

Top

FusionProtFeatures for TXNIP_DMD


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

Q9H3M7

DMD

P11532

May act as an oxidative stress mediator by inhibitingthioredoxin activity or by limiting its bioavailability. Interactswith COPS5 and restores COPS5-induced suppression of CDKN1Bstability, blocking the COPS5-mediated translocation of CDKN1Bfrom the nucleus to the cytoplasm. Functions as a transcriptionalrepressor, possibly by acting as a bridge molecule betweentranscription factors and corepressor complexes, and over-expression will induce G0/G1 cell cycle arrest. Required for thematuration of natural killer cells. Acts as a suppressor of tumorcell growth. Inhibits the proteasomal degradation of DDIT4, andthereby contributes to the inhibition of the mammalian target ofrapamycin complex 1 (mTORC1). {ECO:0000269|PubMed:12821938,ECO:0000269|PubMed:17603038, ECO:0000269|PubMed:18541147,ECO:0000269|PubMed:21460850}.

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


Top

FusionGeneSequence for TXNIP_DMD


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).

Top

FusionGenePPI for TXNIP_DMD


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


Top

RelatedDrugs for TXNIP_DMD


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

Top

RelatedDiseases for TXNIP_DMD


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTXNIPC0003873Rheumatoid Arthritis1CTD_human
HgeneTXNIPC0011881Diabetic Nephropathy1CTD_human
HgeneTXNIPC0014175Endometriosis1CTD_human
HgeneTXNIPC0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneDMDC0013264Muscular Dystrophy, Duchenne16CTD_human;ORPHANET;UNIPROT
TgeneDMDC0026850Muscular Dystrophy4CTD_human;HPO
TgeneDMDC3668940Dmd-Associated Dilated Cardiomyopathy4CTD_human;UNIPROT
TgeneDMDC0878544Cardiomyopathies3CTD_human;HPO
TgeneDMDC0006663Calcinosis1CTD_human
TgeneDMDC0007193Cardiomyopathy, Dilated1CTD_human;HPO
TgeneDMDC0018800Cardiomegaly1CTD_human
TgeneDMDC0023269leiomyosarcoma1CTD_human
TgeneDMDC0026851Muscular Dystrophy, Animal1CTD_human
TgeneDMDC0027540Necrosis1CTD_human
TgeneDMDC0027626Neoplasm Invasiveness1CTD_human
TgeneDMDC0027627Neoplasm Metastasis1CTD_human
TgeneDMDC0032460Polycystic Ovary Syndrome1CTD_human
TgeneDMDC0038220Status Epilepticus1CTD_human
TgeneDMDC0151786Muscle Weakness1CTD_human;HPO
TgeneDMDC0206656Rhabdomyosarcoma, Embryonal1CTD_human
TgeneDMDC0238198Gastrointestinal Stromal Tumors1CTD_human
TgeneDMDC0242973Ventricular Dysfunction1CTD_human
TgeneDMDC0917713Becker Muscular Dystrophy1ORPHANET;UNIPROT