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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: 34036

FusionGeneSummary for SLC12A6_TES

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC12A6_TES
Fusion gene ID: 34036
HgeneTgene
Gene symbol

SLC12A6

TES

Gene ID

9990

26136

Gene namesolute carrier family 12 member 6testin LIM domain protein
SynonymsACCPN|KCC3|KCC3A|KCC3BTESS|TESS-2
Cytomap

15q14

7q31.2

Type of geneprotein-codingprotein-coding
Descriptionsolute carrier family 12 member 6K-Cl cotransporter 3electroneutral potassium-chloride cotransporter 3potassium chloride cotransporter 3potassium chloride cotransporter KCC3a-S3potassium-chloride transporter-3apotassium-chloride transporter-3bsoluttestintestis derived transcript (3 LIM domains)
Modification date2018052320180522
UniProtAcc

Q9UHW9

Q9UGI8

Ensembl transtripts involved in fusion geneENST00000397707, ENST00000560611, 
ENST00000354181, ENST00000458406, 
ENST00000397702, ENST00000290209, 
ENST00000558667, ENST00000558589, 
ENST00000451844, ENST00000560164, 
ENST00000358204, ENST00000537767, 
ENST00000393481, ENST00000485009, 
Fusion gene scores* DoF score4 X 3 X 2=244 X 3 X 3=36
# samples 55
** MAII scorelog2(5/24*10)=1.05889368905357
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(5/36*10)=0.473931188332412
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SLC12A6 [Title/Abstract] AND TES [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
HgeneSLC12A6

GO:0006811

ion transport

10187864

HgeneSLC12A6

GO:0071477

cellular hypotonic salinity response

16048901


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
ChiTaRS3.1AA036910SLC12A6chr15

34524726

-TESchr7

115898429

+
ChiTaRS3.1AA143188SLC12A6chr15

34524726

-TESchr7

115898429

+
* 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-3UTRENST00000397707ENST00000358204SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000397707ENST00000537767SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000397707ENST00000393481SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000397707ENST00000485009SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000560611ENST00000358204SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000560611ENST00000537767SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000560611ENST00000393481SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000560611ENST00000485009SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000354181ENST00000358204SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000354181ENST00000537767SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000354181ENST00000393481SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000354181ENST00000485009SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000458406ENST00000358204SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000458406ENST00000537767SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000458406ENST00000393481SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000458406ENST00000485009SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000397702ENST00000358204SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000397702ENST00000537767SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000397702ENST00000393481SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000397702ENST00000485009SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000290209ENST00000358204SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000290209ENST00000537767SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000290209ENST00000393481SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000290209ENST00000485009SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000558667ENST00000358204SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000558667ENST00000537767SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000558667ENST00000393481SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000558667ENST00000485009SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000558589ENST00000358204SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000558589ENST00000537767SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000558589ENST00000393481SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000558589ENST00000485009SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000451844ENST00000358204SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000451844ENST00000537767SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000451844ENST00000393481SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000451844ENST00000485009SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000560164ENST00000358204SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000560164ENST00000537767SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-3UTRENST00000560164ENST00000393481SLC12A6chr15

34524726

-TESchr7

115898429

+
intron-intronENST00000560164ENST00000485009SLC12A6chr15

34524726

-TESchr7

115898429

+

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FusionProtFeatures for SLC12A6_TES


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLC12A6

Q9UHW9

TES

Q9UGI8

Scaffold protein that may play a role in cell adhesion,cell spreading and in the reorganization of the actincytoskeleton. Plays a role in the regulation of cellproliferation. May act as a tumor suppressor. Inhibits tumor cellgrowth. {ECO:0000269|PubMed:11420696, ECO:0000269|PubMed:12571287,ECO:0000269|PubMed:12695497}.

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 SLC12A6_TES


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 SLC12A6_TES


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 SLC12A6_TES


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneSLC12A6Q9UHW9DB00761Potassium ChlorideSolute carrier family 12 member 6small moleculeapproved|withdrawn

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RelatedDiseases for SLC12A6_TES


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC12A6C0005586Bipolar Disorder3PSYGENET
HgeneSLC12A6C0031117Peripheral Neuropathy1CTD_human;HPO
TgeneTESC0017636Glioblastoma1CTD_human
TgeneTESC0023893Liver Cirrhosis, Experimental1CTD_human