FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 34033

FusionGeneSummary for SLC12A6_B4GALT5

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC12A6_B4GALT5
Fusion gene ID: 34033
HgeneTgene
Gene symbol

SLC12A6

B4GALT5

Gene ID

9990

9334

Gene namesolute carrier family 12 member 6beta-1,4-galactosyltransferase 5
SynonymsACCPN|KCC3|KCC3A|KCC3BB4Gal-T5|BETA4-GALT-IV|beta4Gal-T5|beta4GalT-V|gt-V
Cytomap

15q14

20q13.13

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-3bsolutbeta-1,4-galactosyltransferase 5UDP-Gal:beta-GlcNAc beta-1,4-galactosyltransferase 5UDP-Gal:betaGlcNAc beta 1,4-galactosyltransferase, polypeptide 5UDP-galactose:beta-N-acetylglucosamine beta-1,4-galactosyltransferase 5beta-1,4-GalT IIbeta-1,4-GalT I
Modification date2018052320180522
UniProtAcc

Q9UHW9

O43286

Ensembl transtripts involved in fusion geneENST00000397707, ENST00000560611, 
ENST00000354181, ENST00000458406, 
ENST00000397702, ENST00000290209, 
ENST00000558667, ENST00000558589, 
ENST00000451844, ENST00000560164, 
ENST00000371711, 
Fusion gene scores* DoF score4 X 3 X 2=247 X 6 X 3=126
# samples 57
** MAII scorelog2(5/24*10)=1.05889368905357
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SLC12A6 [Title/Abstract] AND B4GALT5 [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
ChiTaRS3.1DB237731SLC12A6chr15

34610762

-B4GALT5chr20

48273242

-
* 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-3CDSENST00000397707ENST00000371711SLC12A6chr15

34610762

-B4GALT5chr20

48273242

-
intron-3CDSENST00000560611ENST00000371711SLC12A6chr15

34610762

-B4GALT5chr20

48273242

-
intron-3CDSENST00000354181ENST00000371711SLC12A6chr15

34610762

-B4GALT5chr20

48273242

-
intron-3CDSENST00000458406ENST00000371711SLC12A6chr15

34610762

-B4GALT5chr20

48273242

-
intron-3CDSENST00000397702ENST00000371711SLC12A6chr15

34610762

-B4GALT5chr20

48273242

-
Frame-shiftENST00000290209ENST00000371711SLC12A6chr15

34610762

-B4GALT5chr20

48273242

-
intron-3CDSENST00000558667ENST00000371711SLC12A6chr15

34610762

-B4GALT5chr20

48273242

-
intron-3CDSENST00000558589ENST00000371711SLC12A6chr15

34610762

-B4GALT5chr20

48273242

-
intron-3CDSENST00000451844ENST00000371711SLC12A6chr15

34610762

-B4GALT5chr20

48273242

-
intron-3CDSENST00000560164ENST00000371711SLC12A6chr15

34610762

-B4GALT5chr20

48273242

-

Top

FusionProtFeatures for SLC12A6_B4GALT5


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

Q9UHW9

B4GALT5

O43286

Responsible for the synthesis of complex-type N-linkedoligosaccharides in many glycoproteins as well as the carbohydratemoieties of glycolipids. {ECO:0000269|PubMed:9435216}.

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


Top

FusionGeneSequence for SLC12A6_B4GALT5


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).

Top

FusionGenePPI for SLC12A6_B4GALT5


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
SLC12A6LGALS3, LGALS8, LGALS9, LGALS9C, FAM189A2, TMEM17, PTGIR, NRN1, CD79B, NMUR2, SLC17A2, ZNRF4, GPR21, SLC4A8B4GALT5ELAVL1, HLA-DPA1, NXPH2, IL20RB, GINM1, TNF, LIPH, IL27RA, FCGRT, SLC39A9, KIAA1467, IL13RA2, SYT12, KERA, GABRG2, CRP, HSPA13, MGAT4C, AVP, TPCN2, TRIM25


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


Top

RelatedDrugs for SLC12A6_B4GALT5


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

Top

RelatedDiseases for SLC12A6_B4GALT5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC12A6C0005586Bipolar Disorder3PSYGENET
HgeneSLC12A6C0031117Peripheral Neuropathy1CTD_human;HPO
TgeneB4GALT5C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneB4GALT5C3495559Juvenile arthritis1CTD_human