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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:TFEB-DIP2B (FusionGDB2 ID:89711)

Fusion Gene Summary for TFEB-DIP2B

check button Fusion gene summary
Fusion gene informationFusion gene name: TFEB-DIP2B
Fusion gene ID: 89711
HgeneTgene
Gene symbol

TFEB

DIP2B

Gene ID

7942

57609

Gene nametranscription factor EBdisco interacting protein 2 homolog B
SynonymsALPHATFEB|BHLHE35|TCFEB-
Cytomap

6p21.1

12q13.12

Type of geneprotein-codingprotein-coding
Descriptiontranscription factor EBT-cell transcription factor EBclass E basic helix-loop-helix protein 35disco-interacting protein 2 homolog BDIP2 disco-interacting protein 2 homolog B
Modification date2020032920200313
UniProtAcc.

Q9P265

Ensembl transtripts involved in fusion geneENST00000230323, ENST00000358871, 
ENST00000420312, ENST00000403298, 
ENST00000373033, ENST00000394283, 
ENST00000301180, 
Fusion gene scores* DoF score12 X 11 X 8=105614 X 14 X 6=1176
# samples 1415
** MAII scorelog2(14/1056*10)=-2.91511110241349
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/1176*10)=-2.97085365434048
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TFEB [Title/Abstract] AND DIP2B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTFEB(41703088)-DIP2B(51116985), # samples:2
Anticipated loss of major functional domain due to fusion event.TFEB-DIP2B seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
TFEB-DIP2B seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
TFEB-DIP2B seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
TFEB-DIP2B seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgeneTFEB

GO:0010468

regulation of gene expression

27278822

HgeneTFEB

GO:0045893

positive regulation of transcription, DNA-templated

27278822|29146937

HgeneTFEB

GO:0045944

positive regulation of transcription by RNA polymerase II

19556463


check buttonFusion gene breakpoints across TFEB (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across DIP2B (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4GBMTCGA-06-0129TFEBchr6

41703883

-DIP2Bchr12

51116984

+
ChimerDB4GBMTCGA-06-0129-01ATFEBchr6

41703088

-DIP2Bchr12

51116985

+
ChimerDB4GBMTCGA-06-0129-01ATFEBchr6

41700387

-DIP2Bchr12

51116985

+
ChimerDB4GBMTCGA-06-0129-01ATFEBchr6

41703884

-DIP2Bchr12

51116985

+
ChimerDB4GBMTCGA-06-0129-01ATFEBchr6

41703088

-DIP2Bchr12

51116985

+


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Fusion Gene ORF analysis for TFEB-DIP2B

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-3CDSENST00000230323ENST00000301180TFEBchr6

41703883

-DIP2Bchr12

51116984

+
Frame-shiftENST00000358871ENST00000301180TFEBchr6

41703883

-DIP2Bchr12

51116984

+
intron-3CDSENST00000420312ENST00000301180TFEBchr6

41703883

-DIP2Bchr12

51116984

+
5UTR-3CDSENST00000403298ENST00000301180TFEBchr6

41703883

-DIP2Bchr12

51116984

+
intron-3CDSENST00000373033ENST00000301180TFEBchr6

41703883

-DIP2Bchr12

51116984

+
intron-3CDSENST00000394283ENST00000301180TFEBchr6

41703883

-DIP2Bchr12

51116984

+
intron-3CDSENST00000230323ENST00000301180TFEBchr6

41703088

-DIP2Bchr12

51116985

+
intron-3CDSENST00000358871ENST00000301180TFEBchr6

41703088

-DIP2Bchr12

51116985

+
intron-3CDSENST00000420312ENST00000301180TFEBchr6

41703088

-DIP2Bchr12

51116985

+
intron-3CDSENST00000403298ENST00000301180TFEBchr6

41703088

-DIP2Bchr12

51116985

+
5UTR-3CDSENST00000373033ENST00000301180TFEBchr6

41703088

-DIP2Bchr12

51116985

+
intron-3CDSENST00000394283ENST00000301180TFEBchr6

41703088

-DIP2Bchr12

51116985

+
5UTR-3CDSENST00000230323ENST00000301180TFEBchr6

41700387

-DIP2Bchr12

51116985

+
intron-3CDSENST00000358871ENST00000301180TFEBchr6

41700387

-DIP2Bchr12

51116985

+
5UTR-3CDSENST00000420312ENST00000301180TFEBchr6

41700387

-DIP2Bchr12

51116985

+
intron-3CDSENST00000403298ENST00000301180TFEBchr6

41700387

-DIP2Bchr12

51116985

+
intron-3CDSENST00000373033ENST00000301180TFEBchr6

41700387

-DIP2Bchr12

51116985

+
5UTR-3CDSENST00000394283ENST00000301180TFEBchr6

41700387

-DIP2Bchr12

51116985

+
intron-3CDSENST00000230323ENST00000301180TFEBchr6

41703884

-DIP2Bchr12

51116985

+
Frame-shiftENST00000358871ENST00000301180TFEBchr6

41703884

-DIP2Bchr12

51116985

+
intron-3CDSENST00000420312ENST00000301180TFEBchr6

41703884

-DIP2Bchr12

51116985

+
5UTR-3CDSENST00000403298ENST00000301180TFEBchr6

41703884

-DIP2Bchr12

51116985

+
intron-3CDSENST00000373033ENST00000301180TFEBchr6

41703884

-DIP2Bchr12

51116985

+
intron-3CDSENST00000394283ENST00000301180TFEBchr6

41703884

-DIP2Bchr12

51116985

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for TFEB-DIP2B


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
TFEBchr641703883-DIP2Bchr1251116984+0.84476080.15523918
TFEBchr641703883-DIP2Bchr1251116984+0.84476080.15523918
TFEBchr641700386-DIP2Bchr1251116984+0.0206049270.9793951
TFEBchr641703087-DIP2Bchr1251116984+2.16E-060.99999785
TFEBchr641703883-DIP2Bchr1251116984+0.84476080.15523918
TFEBchr641703883-DIP2Bchr1251116984+0.84476080.15523918
TFEBchr641700386-DIP2Bchr1251116984+0.0206049270.9793951
TFEBchr641703087-DIP2Bchr1251116984+2.16E-060.99999785

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for TFEB-DIP2B


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.DIP2B

Q9P265

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Negatively regulates axonal outgrowth and is essential for normal synaptic transmission. Not required for regulation of axon polarity. Promotes acetylation of alpha-tubulin. {ECO:0000250|UniProtKB:Q3UH60}.

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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Fusion Gene Sequence for TFEB-DIP2B


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for TFEB-DIP2B


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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Related Drugs for TFEB-DIP2B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for TFEB-DIP2B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTFEBC4518356MiT family translocation renal cell carcinoma2ORPHANET
TgeneDIP2BC1969893Mental Retardation, Fra12a Type1CTD_human;GENOMICS_ENGLAND