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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: 39321

FusionGeneSummary for TRADD_SLC12A1

check button Fusion gene summary
Fusion gene informationFusion gene name: TRADD_SLC12A1
Fusion gene ID: 39321
HgeneTgene
Gene symbol

TRADD

SLC12A1

Gene ID

8717

6557

Gene nameTNFRSF1A associated via death domainsolute carrier family 12 member 1
SynonymsHs.89862BSC1|NKCC2
Cytomap

16q22.1

15q21.1

Type of geneprotein-codingprotein-coding
Descriptiontumor 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 proteinsolute 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 date2018052220180523
UniProtAcc

Q15628

Q13621

Ensembl transtripts involved in fusion geneENST00000345057, ENST00000486556, 
ENST00000566104, 
ENST00000380993, 
ENST00000396577, ENST00000330289, 
ENST00000558405, ENST00000561031, 
ENST00000559723, 
Fusion gene scores* DoF score3 X 2 X 3=183 X 3 X 2=18
# samples 33
** MAII scorelog2(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)

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
TCGALDBRCATCGA-B6-A0I9-01ATRADDchr16

67193741

-SLC12A1chr15

48548008

+
* 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
5UTR-3CDSENST00000345057ENST00000380993TRADDchr16

67193741

-SLC12A1chr15

48548008

+
5UTR-3CDSENST00000345057ENST00000396577TRADDchr16

67193741

-SLC12A1chr15

48548008

+
5UTR-intronENST00000345057ENST00000330289TRADDchr16

67193741

-SLC12A1chr15

48548008

+
5UTR-intronENST00000345057ENST00000558405TRADDchr16

67193741

-SLC12A1chr15

48548008

+
5UTR-intronENST00000345057ENST00000561031TRADDchr16

67193741

-SLC12A1chr15

48548008

+
5UTR-intronENST00000345057ENST00000559723TRADDchr16

67193741

-SLC12A1chr15

48548008

+
intron-3CDSENST00000486556ENST00000380993TRADDchr16

67193741

-SLC12A1chr15

48548008

+
intron-3CDSENST00000486556ENST00000396577TRADDchr16

67193741

-SLC12A1chr15

48548008

+
intron-intronENST00000486556ENST00000330289TRADDchr16

67193741

-SLC12A1chr15

48548008

+
intron-intronENST00000486556ENST00000558405TRADDchr16

67193741

-SLC12A1chr15

48548008

+
intron-intronENST00000486556ENST00000561031TRADDchr16

67193741

-SLC12A1chr15

48548008

+
intron-intronENST00000486556ENST00000559723TRADDchr16

67193741

-SLC12A1chr15

48548008

+
5UTR-3CDSENST00000566104ENST00000380993TRADDchr16

67193741

-SLC12A1chr15

48548008

+
5UTR-3CDSENST00000566104ENST00000396577TRADDchr16

67193741

-SLC12A1chr15

48548008

+
5UTR-intronENST00000566104ENST00000330289TRADDchr16

67193741

-SLC12A1chr15

48548008

+
5UTR-intronENST00000566104ENST00000558405TRADDchr16

67193741

-SLC12A1chr15

48548008

+
5UTR-intronENST00000566104ENST00000561031TRADDchr16

67193741

-SLC12A1chr15

48548008

+
5UTR-intronENST00000566104ENST00000559723TRADDchr16

67193741

-SLC12A1chr15

48548008

+

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FusionProtFeatures for TRADD_SLC12A1


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

Q15628

SLC12A1

Q13621

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.

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 TRADD_SLC12A1


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 TRADD_SLC12A1


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
TRADDTNFRSF25, 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, BPNT1SLC12A1


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 TRADD_SLC12A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneSLC12A1Q13621DB00214TorasemideSolute carrier family 12 member 1small moleculeapproved
TgeneSLC12A1Q13621DB00232MethyclothiazideSolute carrier family 12 member 1small moleculeapproved
TgeneSLC12A1Q13621DB00310ChlorthalidoneSolute carrier family 12 member 1small moleculeapproved
TgeneSLC12A1Q13621DB00887BumetanideSolute carrier family 12 member 1small moleculeapproved
TgeneSLC12A1Q13621DB01325QuinethazoneSolute carrier family 12 member 1small moleculeapproved
TgeneSLC12A1Q13621DB02925PiretanideSolute carrier family 12 member 1small moleculeapproved
TgeneSLC12A1Q13621DB00774HydroflumethiazideSolute carrier family 12 member 1small moleculeapproved|investigational
TgeneSLC12A1Q13621DB00903Etacrynic acidSolute carrier family 12 member 1small moleculeapproved|investigational
TgeneSLC12A1Q13621DB00695FurosemideSolute carrier family 12 member 1small moleculeapproved|vet_approved
TgeneSLC12A1Q13621DB01021TrichlormethiazideSolute carrier family 12 member 1small moleculeapproved|vet_approved
TgeneSLC12A1Q13621DB00761Potassium ChlorideSolute carrier family 12 member 1small moleculeapproved|withdrawn

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RelatedDiseases for TRADD_SLC12A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSLC12A1C0004775Bartter Disease1CTD_human
TgeneSLC12A1C1866495Bartter syndrome, antenatal type 11CTD_human;ORPHANET;UNIPROT