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Fusion gene ID: 39321 |
FusionGeneSummary for TRADD_SLC12A1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: TRADD_SLC12A1 | Fusion gene ID: 39321 | Hgene | Tgene | Gene symbol | TRADD | SLC12A1 | Gene ID | 8717 | 6557 |
Gene name | TNFRSF1A associated via death domain | solute carrier family 12 member 1 | |
Synonyms | Hs.89862 | BSC1|NKCC2 | |
Cytomap | 16q22.1 | 15q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | tumor necrosis factor receptor type 1-associated DEATH domain proteinTNFR1-associated death domain proteintumor necrosis factor receptor type 1 associated death domain proteintumor necrosis factor receptor-1-associated protein | solute carrier family 12 member 1NKCC2A variant ANa-K-2Cl cotransporterbumetanide-sensitive sodium-(potassium)-chloride cotransporter 2kidney-specific Na-K-Cl symportersolute carrier family 12 (sodium/potassium/chloride transporter), member 1solute | |
Modification date | 20180522 | 20180523 | |
UniProtAcc | Q15628 | Q13621 | |
Ensembl transtripts involved in fusion gene | ENST00000345057, ENST00000486556, ENST00000566104, | ENST00000380993, ENST00000396577, ENST00000330289, ENST00000558405, ENST00000561031, ENST00000559723, | |
Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 3 X 3 X 2=18 |
# samples | 3 | 3 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: TRADD [Title/Abstract] AND SLC12A1 [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 |
TCGA | LD | BRCA | TCGA-B6-A0I9-01A | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
* 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 |
5UTR-3CDS | ENST00000345057 | ENST00000380993 | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
5UTR-3CDS | ENST00000345057 | ENST00000396577 | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
5UTR-intron | ENST00000345057 | ENST00000330289 | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
5UTR-intron | ENST00000345057 | ENST00000558405 | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
5UTR-intron | ENST00000345057 | ENST00000561031 | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
5UTR-intron | ENST00000345057 | ENST00000559723 | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
intron-3CDS | ENST00000486556 | ENST00000380993 | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
intron-3CDS | ENST00000486556 | ENST00000396577 | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
intron-intron | ENST00000486556 | ENST00000330289 | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
intron-intron | ENST00000486556 | ENST00000558405 | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
intron-intron | ENST00000486556 | ENST00000561031 | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
intron-intron | ENST00000486556 | ENST00000559723 | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
5UTR-3CDS | ENST00000566104 | ENST00000380993 | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
5UTR-3CDS | ENST00000566104 | ENST00000396577 | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
5UTR-intron | ENST00000566104 | ENST00000330289 | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
5UTR-intron | ENST00000566104 | ENST00000558405 | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
5UTR-intron | ENST00000566104 | ENST00000561031 | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
5UTR-intron | ENST00000566104 | ENST00000559723 | TRADD | chr16 | 67193741 | - | SLC12A1 | chr15 | 48548008 | + |
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FusionProtFeatures for TRADD_SLC12A1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
TRADD | SLC12A1 |
The nuclear form acts as a tumor suppressor bypreventing ubiquitination and degradation of isoform p19ARF/ARF ofCDKN2A by TRIP12: acts by interacting with TRIP12, leading todisrupt interaction between TRIP12 and isoform p19ARF/ARF ofCDKN2A (By similarity). Adapter molecule for TNFRSF1A/TNFR1 thatspecifically associates with the cytoplasmic domain of activatedTNFRSF1A/TNFR1 mediating its interaction with FADD. Overexpressionof TRADD leads to two major TNF-induced responses, apoptosis andactivation of NF-kappa-B. {ECO:0000250}. | Electrically silent transporter system. Mediates sodiumand chloride reabsorption. Plays a vital role in the regulation ofionic balance and cell volume. |
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 TRADD_SLC12A1 |
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 TRADD_SLC12A1 |
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 |
TRADD | TNFRSF25, TRAF2, TRPC4AP, TNF, CASP8, NGFR, BCL10, CAV1, TNFRSF21, TNFRSF1A, STAT1, FADD, TNFRSF10B, TNFRSF10A, HIPK2, NOL3, RIPK1, TRAF1, TRADD, KRT18, PPP2R1A, USP2, SH3KBP1, TRIP12, CDKN2A, TNFRSF1B, EDAR, FAS, DAB2IP, CHUK, LRRK2, OPTN, TOMM70A, ZMYND11, PDLIM7, IFIT3, XPO1, NEDD1, TRAF6, BPNT1 | SLC12A1 |
- 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 TRADD_SLC12A1 |
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 |
Tgene | SLC12A1 | Q13621 | DB00214 | Torasemide | Solute carrier family 12 member 1 | small molecule | approved |
Tgene | SLC12A1 | Q13621 | DB00232 | Methyclothiazide | Solute carrier family 12 member 1 | small molecule | approved |
Tgene | SLC12A1 | Q13621 | DB00310 | Chlorthalidone | Solute carrier family 12 member 1 | small molecule | approved |
Tgene | SLC12A1 | Q13621 | DB00887 | Bumetanide | Solute carrier family 12 member 1 | small molecule | approved |
Tgene | SLC12A1 | Q13621 | DB01325 | Quinethazone | Solute carrier family 12 member 1 | small molecule | approved |
Tgene | SLC12A1 | Q13621 | DB02925 | Piretanide | Solute carrier family 12 member 1 | small molecule | approved |
Tgene | SLC12A1 | Q13621 | DB00774 | Hydroflumethiazide | Solute carrier family 12 member 1 | small molecule | approved|investigational |
Tgene | SLC12A1 | Q13621 | DB00903 | Etacrynic acid | Solute carrier family 12 member 1 | small molecule | approved|investigational |
Tgene | SLC12A1 | Q13621 | DB00695 | Furosemide | Solute carrier family 12 member 1 | small molecule | approved|vet_approved |
Tgene | SLC12A1 | Q13621 | DB01021 | Trichlormethiazide | Solute carrier family 12 member 1 | small molecule | approved|vet_approved |
Tgene | SLC12A1 | Q13621 | DB00761 | Potassium Chloride | Solute carrier family 12 member 1 | small molecule | approved|withdrawn |
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RelatedDiseases for TRADD_SLC12A1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | SLC12A1 | C0004775 | Bartter Disease | 1 | CTD_human |
Tgene | SLC12A1 | C1866495 | Bartter syndrome, antenatal type 1 | 1 | CTD_human;ORPHANET;UNIPROT |