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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: 42521

FusionGeneSummary for ZBTB49_SLC23A2

check button Fusion gene summary
Fusion gene informationFusion gene name: ZBTB49_SLC23A2
Fusion gene ID: 42521
HgeneTgene
Gene symbol

ZBTB49

SLC23A2

Gene ID

166793

9963

Gene namezinc finger and BTB domain containing 49solute carrier family 23 member 1
SynonymsZNF509SLC23A2|SVCT1|YSPL3
Cytomap

4p16.3

5q31.2

Type of geneprotein-codingprotein-coding
Descriptionzinc finger and BTB domain-containing protein 49zinc finger protein 509solute 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 carrie
Modification date2018052320180523
UniProtAcc

Q6ZSB9

Q9UGH3

Ensembl transtripts involved in fusion geneENST00000355834, ENST00000538529, 
ENST00000337872, 
ENST00000338244, 
ENST00000379333, ENST00000424750, 
ENST00000468355, 
Fusion gene scores* DoF score3 X 3 X 3=275 X 6 X 2=60
# samples 37
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/60*10)=0.222392421336448
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ZBTB49 [Title/Abstract] AND SLC23A2 [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
HgeneZBTB49

GO:0007050

cell cycle arrest

25245946

HgeneZBTB49

GO:0008285

negative regulation of cell proliferation

25245946

HgeneZBTB49

GO:0045944

positive regulation of transcription by RNA polymerase II

25245946

TgeneSLC23A2

GO:0006814

sodium ion transport

18094143

TgeneSLC23A2

GO:0009636

response to toxic substance

17575980

TgeneSLC23A2

GO:0015882

L-ascorbic acid transmembrane transport

10631088|11895172|18247577|18417304|19216494

TgeneSLC23A2

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
TCGALDSKCMTCGA-ER-A197-06AZBTB49chr4

4292079

+SLC23A2chr20

4951561

-
* 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-5UTRENST00000355834ENST00000338244ZBTB49chr4

4292079

+SLC23A2chr20

4951561

-
5UTR-5UTRENST00000355834ENST00000379333ZBTB49chr4

4292079

+SLC23A2chr20

4951561

-
5UTR-5UTRENST00000355834ENST00000424750ZBTB49chr4

4292079

+SLC23A2chr20

4951561

-
5UTR-5UTRENST00000355834ENST00000468355ZBTB49chr4

4292079

+SLC23A2chr20

4951561

-
5UTR-5UTRENST00000538529ENST00000338244ZBTB49chr4

4292079

+SLC23A2chr20

4951561

-
5UTR-5UTRENST00000538529ENST00000379333ZBTB49chr4

4292079

+SLC23A2chr20

4951561

-
5UTR-5UTRENST00000538529ENST00000424750ZBTB49chr4

4292079

+SLC23A2chr20

4951561

-
5UTR-5UTRENST00000538529ENST00000468355ZBTB49chr4

4292079

+SLC23A2chr20

4951561

-
5UTR-5UTRENST00000337872ENST00000338244ZBTB49chr4

4292079

+SLC23A2chr20

4951561

-
5UTR-5UTRENST00000337872ENST00000379333ZBTB49chr4

4292079

+SLC23A2chr20

4951561

-
5UTR-5UTRENST00000337872ENST00000424750ZBTB49chr4

4292079

+SLC23A2chr20

4951561

-
5UTR-5UTRENST00000337872ENST00000468355ZBTB49chr4

4292079

+SLC23A2chr20

4951561

-

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FusionProtFeatures for ZBTB49_SLC23A2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ZBTB49

Q6ZSB9

SLC23A2

Q9UGH3

Transcription factor. Inhibits cell proliferation byactivating either CDKN1A/p21 transcription or RB1 transcription.{ECO:0000269|PubMed:25245946}. Isoform 1: Binds CDKN1A promoter and activates itstranscription; this activity is further potentiated in thepresence of EP300 (synergistic) and ZBTB17/Miz-1 (additive).{ECO:0000269|PubMed:25245946}. Isoform 3: Activates RB1 transcription most probably byantagonizing ZBTB17 repression of RB1. Does not bind directly RB1promoter. {ECO:0000269|PubMed:25245946}. Sodium/ascorbate cotransporter. Mediates electrogenicuptake of vitamin C, with a stoichiometry of 2 Na(+) for eachascorbate.

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 ZBTB49_SLC23A2


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 ZBTB49_SLC23A2


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
ZBTB49HSP90AA1, POT1, TRAF2, GOPC, CEP70, ZBTB8A, KAT5, EP300, ZBTB17, HINFPSLC23A2NEDD4, AGPAT2, COA1


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 ZBTB49_SLC23A2


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 ZBTB49_SLC23A2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSLC23A2C0008370Cholestasis1CTD_human