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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: 34024

FusionGeneSummary for SLC12A2_C5orf58

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC12A2_C5orf58
Fusion gene ID: 34024
HgeneTgene
Gene symbol

SLC12A2

C5orf58

Gene ID

6558

133874

Gene namesolute carrier family 12 member 2chromosome 5 open reading frame 58
SynonymsBSC|BSC2|NKCC1|PPP1R141-
Cytomap

5q23.3

5q35.1

Type of geneprotein-codingprotein-coding
Descriptionsolute carrier family 12 member 2basolateral Na-K-Cl symporterbumetanide-sensitive sodium-(potassium)-chloride cotransporter 1protein phosphatase 1, regulatory subunit 141solute carrier family 12 (sodium/potassium/chloride transporter), member 2solutputative uncharacterized protein C5orf58
Modification date2018052320180523
UniProtAcc

P55011

C9J3I9

Ensembl transtripts involved in fusion geneENST00000262461, ENST00000343225, 
ENST00000507791, 
ENST00000521850, 
ENST00000517575, ENST00000593851, 
Fusion gene scores* DoF score9 X 6 X 4=2163 X 3 X 3=27
# samples 93
** MAII scorelog2(9/216*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SLC12A2 [Title/Abstract] AND C5orf58 [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
HgeneSLC12A2

GO:0015696

ammonium transport

12946942|18032481

HgeneSLC12A2

GO:0030321

transepithelial chloride transport

12946942

HgeneSLC12A2

GO:0070634

transepithelial ammonium transport

18032481


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
TCGALDCOADTCGA-CM-6170-01ASLC12A2chr5

127524015

+C5orf58chr5

169660264

+
* 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
3UTR-5UTRENST00000262461ENST00000521850SLC12A2chr5

127524015

+C5orf58chr5

169660264

+
3UTR-intronENST00000262461ENST00000517575SLC12A2chr5

127524015

+C5orf58chr5

169660264

+
3UTR-intronENST00000262461ENST00000593851SLC12A2chr5

127524015

+C5orf58chr5

169660264

+
3UTR-5UTRENST00000343225ENST00000521850SLC12A2chr5

127524015

+C5orf58chr5

169660264

+
3UTR-intronENST00000343225ENST00000517575SLC12A2chr5

127524015

+C5orf58chr5

169660264

+
3UTR-intronENST00000343225ENST00000593851SLC12A2chr5

127524015

+C5orf58chr5

169660264

+
intron-5UTRENST00000507791ENST00000521850SLC12A2chr5

127524015

+C5orf58chr5

169660264

+
intron-intronENST00000507791ENST00000517575SLC12A2chr5

127524015

+C5orf58chr5

169660264

+
intron-intronENST00000507791ENST00000593851SLC12A2chr5

127524015

+C5orf58chr5

169660264

+

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FusionProtFeatures for SLC12A2_C5orf58


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLC12A2

P55011

C5orf58

C9J3I9

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 SLC12A2_C5orf58


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 SLC12A2_C5orf58


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
SLC12A2STK39, MAPK14, SLC12A2, SEC13, COMMD1, ATP4A, EGFR, CUL7, CCDC8, ILK, LGALS3, LGALS8, MCOLN3, LGALS9, LGALS9C, FAM189A2, ZACN, NTRK1, GNG12, TCTN3, TMEM17, TMEM216, AK1, CDKN2AIP, CDH1, CTDSPL, PTGIR, HTR3A, TMED6C5orf58


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 SLC12A2_C5orf58


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneSLC12A2P55011DB00887BumetanideSolute carrier family 12 member 2small moleculeapproved
HgeneSLC12A2P55011DB01325QuinethazoneSolute carrier family 12 member 2small moleculeapproved
HgeneSLC12A2P55011DB00761Potassium ChlorideSolute carrier family 12 member 2small moleculeapproved|withdrawn

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RelatedDiseases for SLC12A2_C5orf58


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC12A2C0036341Schizophrenia4PSYGENET
HgeneSLC12A2C0007222Cardiovascular Diseases1CTD_human
HgeneSLC12A2C0014544Epilepsy1CTD_human
HgeneSLC12A2C0014556Epilepsy, Temporal Lobe1CTD_human
HgeneSLC12A2C0020538Hypertensive disease1CTD_human
HgeneSLC12A2C0024667Animal Mammary Neoplasms1CTD_human
HgeneSLC12A2C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneSLC12A2C0026650Movement Disorders1CTD_human
HgeneSLC12A2C0033578Prostatic Neoplasms1CTD_human
HgeneSLC12A2C0033975Psychotic Disorders1PSYGENET
HgeneSLC12A2C0271650Impaired glucose tolerance1CTD_human