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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: 34161

FusionGeneSummary for SLC23A2_PHKB

check button Fusion gene summary
Fusion gene informationFusion gene name: SLC23A2_PHKB
Fusion gene ID: 34161
HgeneTgene
Gene symbol

SLC23A2

PHKB

Gene ID

9963

5257

Gene namesolute carrier family 23 member 1phosphorylase kinase regulatory subunit beta
SynonymsSLC23A2|SVCT1|YSPL3-
Cytomap

5q31.2

16q12.1

Type of geneprotein-codingprotein-coding
Descriptionsolute carrier family 23 member 1Na(+)/L-ascorbic acid transporter 1hSVCT1sodium-dependent vitamin C transporter-1solute carrier family 23 (ascorbic acid transporter), member 1solute carrier family 23 (nucleobase transporters), member 1solute carriephosphorylase b kinase regulatory subunit betaphosphorylase kinase beta-subunitphosphorylase kinase subunit betaphosphorylase kinase, beta
Modification date2018052320180523
UniProtAcc

Q9UGH3

Q93100

Ensembl transtripts involved in fusion geneENST00000338244, ENST00000379333, 
ENST00000424750, ENST00000468355, 
ENST00000566044, ENST00000455779, 
ENST00000299167, ENST00000323584, 
ENST00000567402, 
Fusion gene scores* DoF score7 X 7 X 6=2944 X 4 X 4=64
# samples 94
** MAII scorelog2(9/294*10)=-1.70781924850669
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SLC23A2 [Title/Abstract] AND PHKB [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
HgeneSLC23A2

GO:0006814

sodium ion transport

18094143

HgeneSLC23A2

GO:0009636

response to toxic substance

17575980

HgeneSLC23A2

GO:0015882

L-ascorbic acid transmembrane transport

10631088|11895172|18247577|18417304|19216494

HgeneSLC23A2

GO:0070904

transepithelial L-ascorbic acid transport

18417304


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
TCGARVLUADTCGA-38-4630-01ASLC23A2chr20

4864288

-PHKBchr16

47674946

+
* 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
Frame-shitENST00000338244ENST00000566044SLC23A2chr20

4864288

-PHKBchr16

47674946

+
Frame-shitENST00000338244ENST00000455779SLC23A2chr20

4864288

-PHKBchr16

47674946

+
Frame-shitENST00000338244ENST00000299167SLC23A2chr20

4864288

-PHKBchr16

47674946

+
Frame-shitENST00000338244ENST00000323584SLC23A2chr20

4864288

-PHKBchr16

47674946

+
5CDS-intronENST00000338244ENST00000567402SLC23A2chr20

4864288

-PHKBchr16

47674946

+
Frame-shitENST00000379333ENST00000566044SLC23A2chr20

4864288

-PHKBchr16

47674946

+
Frame-shitENST00000379333ENST00000455779SLC23A2chr20

4864288

-PHKBchr16

47674946

+
Frame-shitENST00000379333ENST00000299167SLC23A2chr20

4864288

-PHKBchr16

47674946

+
Frame-shitENST00000379333ENST00000323584SLC23A2chr20

4864288

-PHKBchr16

47674946

+
5CDS-intronENST00000379333ENST00000567402SLC23A2chr20

4864288

-PHKBchr16

47674946

+
intron-3CDSENST00000424750ENST00000566044SLC23A2chr20

4864288

-PHKBchr16

47674946

+
intron-3CDSENST00000424750ENST00000455779SLC23A2chr20

4864288

-PHKBchr16

47674946

+
intron-3CDSENST00000424750ENST00000299167SLC23A2chr20

4864288

-PHKBchr16

47674946

+
intron-3CDSENST00000424750ENST00000323584SLC23A2chr20

4864288

-PHKBchr16

47674946

+
intron-intronENST00000424750ENST00000567402SLC23A2chr20

4864288

-PHKBchr16

47674946

+
5UTR-3CDSENST00000468355ENST00000566044SLC23A2chr20

4864288

-PHKBchr16

47674946

+
5UTR-3CDSENST00000468355ENST00000455779SLC23A2chr20

4864288

-PHKBchr16

47674946

+
5UTR-3CDSENST00000468355ENST00000299167SLC23A2chr20

4864288

-PHKBchr16

47674946

+
5UTR-3CDSENST00000468355ENST00000323584SLC23A2chr20

4864288

-PHKBchr16

47674946

+
5UTR-intronENST00000468355ENST00000567402SLC23A2chr20

4864288

-PHKBchr16

47674946

+

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FusionProtFeatures for SLC23A2_PHKB


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SLC23A2

Q9UGH3

PHKB

Q93100

Sodium/ascorbate cotransporter. Mediates electrogenicuptake of vitamin C, with a stoichiometry of 2 Na(+) for eachascorbate. Phosphorylase b kinase catalyzes the phosphorylation ofserine in certain substrates, including troponin I. The beta chainacts as a regulatory unit and modulates the activity of theholoenzyme in response to phosphorylation.

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 SLC23A2_PHKB


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 SLC23A2_PHKB


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
SLC23A2NEDD4, AGPAT2, COA1PHKBC20orf27, HNRNPC, UBE3A, RAVER1, BRAF, DCP2, AURKB, TP53, CAMK2B, CALM1, DOK4, MPPED1, CORO1B, CORO1C, NTRK1, MED23, HERC2, PHKG2, PTPRT, EYA2, VBP1, TULP3, LGALS3BP


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 SLC23A2_PHKB


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SLC23A2_PHKB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSLC23A2C0008370Cholestasis1CTD_human
TgenePHKBC0543514Glycogen Storage Disease IXB1CTD_human;ORPHANET;UNIPROT