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Fusion gene ID: 40229 |
FusionGeneSummary for TXNRD2_RHBDD1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: TXNRD2_RHBDD1 | Fusion gene ID: 40229 | Hgene | Tgene | Gene symbol | TXNRD2 | RHBDD1 | Gene ID | 10587 | 84236 |
Gene name | thioredoxin reductase 2 | rhomboid domain containing 1 | |
Synonyms | GCCD5|SELZ|TR|TR-BETA|TR3|TRXR2 | RHBDL4|RRP4 | |
Cytomap | 22q11.21 | 2q36.3 | |
Type of gene | protein-coding | protein-coding | |
Description | thioredoxin reductase 2, mitochondrialselenoprotein Zthioredoxin reductase 3thioredoxin reductase TR3thioredoxin reductase beta | rhomboid-related protein 4rhomboid domain-containing protein 1rhomboid-like protein 4 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q9NNW7 | Q8TEB9 | |
Ensembl transtripts involved in fusion gene | ENST00000400521, ENST00000400519, ENST00000535882, ENST00000334363, ENST00000400518, ENST00000542719, ENST00000491939, | ENST00000341329, ENST00000392062, ENST00000409053, ENST00000493526, | |
Fusion gene scores | * DoF score | 4 X 3 X 4=48 | 4 X 4 X 2=32 |
# samples | 5 | 5 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BX089300 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - | ||
ChiTaRS3.1 | AI559179 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-intron | ENST00000400521 | ENST00000341329 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000400521 | ENST00000392062 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000400521 | ENST00000409053 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000400521 | ENST00000493526 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000400519 | ENST00000341329 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000400519 | ENST00000392062 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000400519 | ENST00000409053 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000400519 | ENST00000493526 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000535882 | ENST00000341329 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000535882 | ENST00000392062 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000535882 | ENST00000409053 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000535882 | ENST00000493526 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000334363 | ENST00000341329 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000334363 | ENST00000392062 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000334363 | ENST00000409053 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000334363 | ENST00000493526 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000400518 | ENST00000341329 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000400518 | ENST00000392062 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000400518 | ENST00000409053 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000400518 | ENST00000493526 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000542719 | ENST00000341329 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000542719 | ENST00000392062 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000542719 | ENST00000409053 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000542719 | ENST00000493526 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000491939 | ENST00000341329 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000491939 | ENST00000392062 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000491939 | ENST00000409053 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
intron-intron | ENST00000491939 | ENST00000493526 | TXNRD2 | chr22 | 19882248 | + | RHBDD1 | chr2 | 227719026 | - |
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FusionProtFeatures for TXNRD2_RHBDD1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
TXNRD2 | RHBDD1 |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for TXNRD2_RHBDD1 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for TXNRD2_RHBDD1 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for TXNRD2_RHBDD1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | TXNRD2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | TXNRD2 | C0086132 | Depressive Symptoms | 1 | PSYGENET |
Hgene | TXNRD2 | C0339573 | Glaucoma, Primary Open Angle | 1 | CTD_human |