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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: 14914

FusionGeneSummary for GNB1_ELF3

check button Fusion gene summary
Fusion gene informationFusion gene name: GNB1_ELF3
Fusion gene ID: 14914
HgeneTgene
Gene symbol

GNB1

ELF3

Gene ID

2782

1999

Gene nameG protein subunit beta 1E74 like ETS transcription factor 3
SynonymsMRD42EPR-1|ERT|ESE-1|ESX
Cytomap

1p36.33

1q32.1

Type of geneprotein-codingprotein-coding
Descriptionguanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1beta subunit, signal-transducing proteins GS/GIguanine nucleotide binding protein (G protein), beta polypeptide 1testicular tissue protein Li 72transducin beta chain 1ETS-related transcription factor Elf-3E74-like factor 3 (ETS domain transcription factor, serine box, epithelial-specific)E74-like factor 3 (ets domain transcription factor)E74-like factor 3 (ets domain transcription factor, epithelial-specific )epith
Modification date2018052220180523
UniProtAcc

P62873

P78545

Ensembl transtripts involved in fusion geneENST00000378609, ENST00000472614, 
ENST00000359651, ENST00000367284, 
ENST00000367283, ENST00000495848, 
Fusion gene scores* DoF score23 X 23 X 14=74067 X 6 X 3=126
# samples 358
** MAII scorelog2(35/7406*10)=-4.4032677223393
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/126*10)=-0.655351828612554
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GNB1 [Title/Abstract] AND ELF3 [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
TgeneELF3

GO:0045892

negative regulation of transcription, DNA-templated

10773884

TgeneELF3

GO:0045893

positive regulation of transcription, DNA-templated

9234700


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
ChiTaRS3.1BE140587GNB1chr1

1718278

-ELF3chr1

201984416

+
* 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-3CDSENST00000378609ENST00000359651GNB1chr1

1718278

-ELF3chr1

201984416

+
intron-3CDSENST00000378609ENST00000367284GNB1chr1

1718278

-ELF3chr1

201984416

+
intron-3CDSENST00000378609ENST00000367283GNB1chr1

1718278

-ELF3chr1

201984416

+
intron-intronENST00000378609ENST00000495848GNB1chr1

1718278

-ELF3chr1

201984416

+
intron-3CDSENST00000472614ENST00000359651GNB1chr1

1718278

-ELF3chr1

201984416

+
intron-3CDSENST00000472614ENST00000367284GNB1chr1

1718278

-ELF3chr1

201984416

+
intron-3CDSENST00000472614ENST00000367283GNB1chr1

1718278

-ELF3chr1

201984416

+
intron-intronENST00000472614ENST00000495848GNB1chr1

1718278

-ELF3chr1

201984416

+

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FusionProtFeatures for GNB1_ELF3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GNB1

P62873

ELF3

P78545

Guanine nucleotide-binding proteins (G proteins) areinvolved as a modulator or transducer in various transmembranesignaling systems. The beta and gamma chains are required for theGTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. Transcriptional activator that binds and transactivatesETS sequences containing the consensus nucleotide core sequenceGGA[AT]. Acts synergistically with POU2F3 to transactivate theSPRR2A promoter and with RUNX1 to transactivate the ANGPT1promoter. Also transactivates collagenase, CCL20, CLND7, FLG,KRT8, NOS2, PTGS2, SPRR2B, TGFBR2 and TGM3 promoters. RepressesKRT4 promoter activity. Involved in mediating vascularinflammation. May play an important role in epithelial celldifferentiation and tumorigenesis. May be a critical downstreameffector of the ERBB2 signaling pathway. May be associated withmammary gland development and involution. Plays an important rolein the regulation of transcription with TATA-less promoters inpreimplantation embryos, which is essential in preimplantationdevelopment (By similarity). {ECO:0000250,ECO:0000269|PubMed:10391676, ECO:0000269|PubMed:10644990,ECO:0000269|PubMed:10773884, ECO:0000269|PubMed:11036073,ECO:0000269|PubMed:11313868, ECO:0000269|PubMed:12414801,ECO:0000269|PubMed:12624109, ECO:0000269|PubMed:12682075,ECO:0000269|PubMed:12713734, ECO:0000269|PubMed:14715662,ECO:0000269|PubMed:14767472, ECO:0000269|PubMed:15075319,ECO:0000269|PubMed:15169914, ECO:0000269|PubMed:15794755,ECO:0000269|PubMed:16307850, ECO:0000269|PubMed:17060315,ECO:0000269|PubMed:9129154, ECO:0000269|PubMed:9234700,ECO:0000269|PubMed:9336459, ECO:0000269|PubMed:9395241,ECO:0000269|PubMed:9417054}.

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 GNB1_ELF3


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 GNB1_ELF3


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


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 GNB1_ELF3


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 GNB1_ELF3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGNB1C0003469Anxiety Disorders1CTD_human
HgeneGNB1C0011581Depressive disorder1CTD_human
TgeneELF3C0005426Biliary Tract Neoplasm1CTD_human
TgeneELF3C0273115Lung Injury1CTD_human