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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: 42519

FusionGeneSummary for ZBTB48_TAS1R1

check button Fusion gene summary
Fusion gene informationFusion gene name: ZBTB48_TAS1R1
Fusion gene ID: 42519
HgeneTgene
Gene symbol

ZBTB48

TAS1R1

Gene ID

3104

80835

Gene namezinc finger and BTB domain containing 48taste 1 receptor member 1
SynonymsHKR3|TZAP|ZNF855|pp9964GM148|GPR70|T1R1|TR1
Cytomap

1p36.31

1p36.31

Type of geneprotein-codingprotein-coding
Descriptiontelomere zinc finger-associated proteinGLI-Kruppel family member HKR3krueppel-related zinc finger protein 3telomeric zinc finger-associated proteinzinc finger and BTB domain-containing protein 48zinc finger protein 855taste receptor type 1 member 1G-protein coupled receptor 70seven transmembrane helix receptortaste receptor, type 1, member 1
Modification date2018051920180523
UniProtAcc

P10074

Q7RTX1

Ensembl transtripts involved in fusion geneENST00000377674, ENST00000333172, 
ENST00000328191, ENST00000351136, 
Fusion gene scores* DoF score3 X 4 X 3=362 X 2 X 2=8
# samples 32
** MAII scorelog2(3/36*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: ZBTB48 [Title/Abstract] AND TAS1R1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
* 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
TgeneTAS1R1

GO:0050917

sensory perception of umami taste

11917125


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
TCGARVBRCATCGA-D8-A1XK-01AZBTB48chr1

6648904

+TAS1R1chr1

6637010

+
TCGALDBRCATCGA-D8-A1XK-01AZBTB48chr1

6649110

+TAS1R1chr1

6637010

+
* 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
In-frameENST00000377674ENST00000333172ZBTB48chr1

6648904

+TAS1R1chr1

6637010

+
5CDS-intronENST00000377674ENST00000328191ZBTB48chr1

6648904

+TAS1R1chr1

6637010

+
5CDS-intronENST00000377674ENST00000351136ZBTB48chr1

6648904

+TAS1R1chr1

6637010

+
Frame-shiftENST00000377674ENST00000333172ZBTB48chr1

6649110

+TAS1R1chr1

6637010

+
5CDS-intronENST00000377674ENST00000328191ZBTB48chr1

6649110

+TAS1R1chr1

6637010

+
5CDS-intronENST00000377674ENST00000351136ZBTB48chr1

6649110

+TAS1R1chr1

6637010

+

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FusionProtFeatures for ZBTB48_TAS1R1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ZBTB48

P10074

TAS1R1

Q7RTX1

Telomere-binding protein that acts as a regulator oftelomere length (PubMed:28500257, PubMed:28082411). Directly bindsthe telomeric double-stranded 5'-TTAGGG-3' repeat(PubMed:28500257, PubMed:28082411). Preferentially binds totelomeres that have a low concentration of shelterin complex andacts as a regulator of telomere length by initiating telomeretrimming, a process that prevents the accumulation of aberrantlylong telomeres (PubMed:28082411). Also acts as a transcriptionregulator that binds to promoter regions (PubMed:7969177,PubMed:24382891, PubMed:28500257). Regulates expression of a smallsubset of genes, including MTFP1 (PubMed:28500257). Regulatesexpression the J and/or S elements in MHC II promoter(PubMed:7969177). Acts as a negative regulator of cellproliferation by specifically activating expression of ARF, atumor suppressor isoform of CDKN2A (PubMed:24382891).{ECO:0000269|PubMed:24382891, ECO:0000269|PubMed:28082411,ECO:0000269|PubMed:28500257, ECO:0000269|PubMed:7969177}.

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
HgeneZBTB48chr1:6648904chr1:6637010ENST00000377674+101126_89590689DomainBTB
HgeneZBTB48chr1:6648904chr1:6637010ENST00000377674+1011291_313590689Zinc fingerC2H2-type 1
HgeneZBTB48chr1:6648904chr1:6637010ENST00000377674+1011319_341590689Zinc fingerC2H2-type 2%3B degenerate
HgeneZBTB48chr1:6648904chr1:6637010ENST00000377674+1011350_372590689Zinc fingerC2H2-type 3
HgeneZBTB48chr1:6648904chr1:6637010ENST00000377674+1011378_401590689Zinc fingerC2H2-type 4
HgeneZBTB48chr1:6648904chr1:6637010ENST00000377674+1011407_430590689Zinc fingerC2H2-type 5
HgeneZBTB48chr1:6648904chr1:6637010ENST00000377674+1011436_459590689Zinc fingerC2H2-type 6
HgeneZBTB48chr1:6648904chr1:6637010ENST00000377674+1011465_487590689Zinc fingerC2H2-type 7
HgeneZBTB48chr1:6648904chr1:6637010ENST00000377674+1011493_515590689Zinc fingerC2H2-type 8
HgeneZBTB48chr1:6648904chr1:6637010ENST00000377674+1011521_544590689Zinc fingerC2H2-type 9
HgeneZBTB48chr1:6648904chr1:6637010ENST00000377674+1011550_572590689Zinc fingerC2H2-type 10
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000333172+36589_603491842Topological domainCytoplasmic
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000333172+36625_639491842Topological domainExtracellular
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000333172+36661_680491842Topological domainCytoplasmic
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000333172+36702_725491842Topological domainExtracellular
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000333172+36747_761491842Topological domainCytoplasmic
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000333172+36783_795491842Topological domainExtracellular
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000333172+36817_841491842Topological domainCytoplasmic
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000351136+25589_603237588Topological domainCytoplasmic
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000351136+25625_639237588Topological domainExtracellular
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000351136+25661_680237588Topological domainCytoplasmic
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000351136+25702_725237588Topological domainExtracellular
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000351136+25747_761237588Topological domainCytoplasmic
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000351136+25783_795237588Topological domainExtracellular
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000351136+25817_841237588Topological domainCytoplasmic
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000333172+36568_588491842TransmembraneHelical%3B Name%3D1
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000333172+36604_624491842TransmembraneHelical%3B Name%3D2
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000333172+36640_660491842TransmembraneHelical%3B Name%3D3
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000333172+36681_701491842TransmembraneHelical%3B Name%3D4
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000333172+36726_746491842TransmembraneHelical%3B Name%3D5
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000333172+36762_782491842TransmembraneHelical%3B Name%3D6
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000333172+36796_816491842TransmembraneHelical%3B Name%3D7
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000351136+25568_588237588TransmembraneHelical%3B Name%3D1
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000351136+25604_624237588TransmembraneHelical%3B Name%3D2
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000351136+25640_660237588TransmembraneHelical%3B Name%3D3
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000351136+25681_701237588TransmembraneHelical%3B Name%3D4
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000351136+25726_746237588TransmembraneHelical%3B Name%3D5
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000351136+25762_782237588TransmembraneHelical%3B Name%3D6
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000351136+25796_816237588TransmembraneHelical%3B Name%3D7

- In-frame and not-retained protein feature among the 13 regional features.
>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneZBTB48chr1:6648904chr1:6637010ENST00000377674+1011578_600590689Zinc fingerC2H2-type 11
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000333172+3621_567491842Topological domainExtracellular
TgeneTAS1R1chr1:6648904chr1:6637010ENST00000351136+2521_567237588Topological domainExtracellular


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FusionGeneSequence for ZBTB48_TAS1R1


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 ZBTB48_TAS1R1


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
ZBTB48C7orf34, DVL3, ZBTB8A, NUDT21, ILK, PNRC2, CDKN1A, TNFRSF14, RGS2, CDK2AP2, C11orf58, UPF2, EP300, ZBTB7A, ZBTB48, NME7, GPATCH2L, KRTAP10-5, PTTG1, DVL2, TRIM41, RET, CDC23, NCBP2, FBXO7, ETAA1, HIST1H1C, NSD1, HIST1H1A, ZNF121, ZC3HAV1, MRPS34, RRP7A, MRPS35, FBXO11, APOBEC3C, NOL6, RPL26L1, PTCD3, MRPS5, RPL36AL, HIRA, MRPS31, MRPS18C, ZNF777, LTV1, DAP3, ZBTB24, MRPS11, ZSCAN25, BMS1, DDX24, TPD52, DGCR8, MRPS9, CEBPZ, MRPS2, MRPS33, RBM34, FTSJ3, RPL5, CENPB, RBM28, RPS3A, RPL3, MRPS7, PBRM1, TSR1, DDX54, GZF1, SCAF1, DKC1, SRBD1, GNL2, DHX57, LRP2, GTPBP4, RBM19, ZNF771, NSA2, MRPS24, TEX10, RPF2, MRPS10, UTP23, RPL32, MAK16, RPS15, PPAN-P2RY11, CTCF, RPS3TAS1R1TAS1R3


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 ZBTB48_TAS1R1


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 ZBTB48_TAS1R1


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