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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: 40229

FusionGeneSummary for TXNRD2_RHBDD1

check button Fusion gene summary
Fusion gene informationFusion gene name: TXNRD2_RHBDD1
Fusion gene ID: 40229
HgeneTgene
Gene symbol

TXNRD2

RHBDD1

Gene ID

10587

84236

Gene namethioredoxin reductase 2rhomboid domain containing 1
SynonymsGCCD5|SELZ|TR|TR-BETA|TR3|TRXR2RHBDL4|RRP4
Cytomap

22q11.21

2q36.3

Type of geneprotein-codingprotein-coding
Descriptionthioredoxin reductase 2, mitochondrialselenoprotein Zthioredoxin reductase 3thioredoxin reductase TR3thioredoxin reductase betarhomboid-related protein 4rhomboid domain-containing protein 1rhomboid-like protein 4
Modification date2018052320180519
UniProtAcc

Q9NNW7

Q8TEB9

Ensembl transtripts involved in fusion geneENST00000400521, ENST00000400519, 
ENST00000535882, ENST00000334363, 
ENST00000400518, ENST00000542719, 
ENST00000491939, 
ENST00000341329, 
ENST00000392062, ENST00000409053, 
ENST00000493526, 
Fusion gene scores* DoF score4 X 3 X 4=484 X 4 X 2=32
# samples 55
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(5/32*10)=0.643856189774725
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TXNRD2 [Title/Abstract] AND RHBDD1 [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

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
ChiTaRS3.1BX089300TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
ChiTaRS3.1AI559179TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
* 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
intron-intronENST00000400521ENST00000341329TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000400521ENST00000392062TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000400521ENST00000409053TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000400521ENST00000493526TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000400519ENST00000341329TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000400519ENST00000392062TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000400519ENST00000409053TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000400519ENST00000493526TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000535882ENST00000341329TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000535882ENST00000392062TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000535882ENST00000409053TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000535882ENST00000493526TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000334363ENST00000341329TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000334363ENST00000392062TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000334363ENST00000409053TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000334363ENST00000493526TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000400518ENST00000341329TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000400518ENST00000392062TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000400518ENST00000409053TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000400518ENST00000493526TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000542719ENST00000341329TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000542719ENST00000392062TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000542719ENST00000409053TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000542719ENST00000493526TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000491939ENST00000341329TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000491939ENST00000392062TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000491939ENST00000409053TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-
intron-intronENST00000491939ENST00000493526TXNRD2chr22

19882248

+RHBDD1chr2

227719026

-

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FusionProtFeatures for TXNRD2_RHBDD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TXNRD2

Q9NNW7

RHBDD1

Q8TEB9

Intramembrane-cleaving serine protease that cleavessingle transmembrane or multi-pass membrane proteins in thehydrophobic plane of the membrane, luminal loops and juxtamembraneregions. Involved in regulated intramembrane proteolysis and thesubsequent release of functional polypeptides from their membraneanchors. Functional component of endoplasmic reticulum-associateddegradation (ERAD) for misfolded membrane proteins. Required forthe degradation process of some specific misfolded endoplasmicreticulum (ER) luminal proteins. Participates in the transfer ofmisfolded proteins from the ER to the cytosol, where they aredestroyed by the proteasome in a ubiquitin-dependent manner.Functions in BIK, MPZ, PKD1, PTCRA, RHO, STEAP3 and TRACprocessing. Involved in the regulation of exosomal secretion;inhibits the TSAP6-mediated secretion pathway. Involved in theregulation of apoptosis; modulates BIK-mediated apoptoticactivity. Also plays a role in the regulation of spermatogenesis;inhibits apoptotic activity in spermatogonia.{ECO:0000269|PubMed:18953687, ECO:0000269|PubMed:22624035}.

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 TXNRD2_RHBDD1


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 TXNRD2_RHBDD1


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 TXNRD2_RHBDD1


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 TXNRD2_RHBDD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTXNRD2C0033578Prostatic Neoplasms1CTD_human
HgeneTXNRD2C0086132Depressive Symptoms1PSYGENET
HgeneTXNRD2C0339573Glaucoma, Primary Open Angle1CTD_human