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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:RBL1-DLC1 (FusionGDB2 ID:HG5933TG10395)

Fusion Gene Summary for RBL1-DLC1

check button Fusion gene summary
Fusion gene informationFusion gene name: RBL1-DLC1
Fusion gene ID: hg5933tg10395
HgeneTgene
Gene symbol

RBL1

DLC1

Gene ID

5933

10395

Gene nameRB transcriptional corepressor like 1DLC1 Rho GTPase activating protein
SynonymsCP107|PRB1|p107ARHGAP7|HP|STARD12|p122-RhoGAP
Cytomap('RBL1')('DLC1')

20q11.23

8p22

Type of geneprotein-codingprotein-coding
Descriptionretinoblastoma-like protein 1107 kDa retinoblastoma-associated proteinretinoblastoma-like 1rho GTPase-activating protein 7Rho-GTPase-activating protein 7START domain-containing protein 12StAR-related lipid transfer (START) domain containing 12deleted in liver cancer 1 proteindeleted in liver cancer 1 variant 2deleted in liver cancer varia
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000344359, ENST00000373664, 
ENST00000598590, 
Fusion gene scores* DoF score13 X 9 X 7=81917 X 14 X 5=1190
# samples 1519
** MAII scorelog2(15/819*10)=-2.44890095114513
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(19/1190*10)=-2.64689024986436
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RBL1 [Title/Abstract] AND DLC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRBL1(35720801)-DLC1(13042823), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneRBL1

GO:0043550

regulation of lipid kinase activity

16286473

TgeneDLC1

GO:0006915

apoptotic process

17292327

TgeneDLC1

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

17888903

TgeneDLC1

GO:0008285

negative regulation of cell proliferation

12545165|17932950

TgeneDLC1

GO:0030336

negative regulation of cell migration

17932950|19158340

TgeneDLC1

GO:0035307

positive regulation of protein dephosphorylation

17292327

TgeneDLC1

GO:0051497

negative regulation of stress fiber assembly

17932950

TgeneDLC1

GO:0051895

negative regulation of focal adhesion assembly

19158340

TgeneDLC1

GO:1900119

positive regulation of execution phase of apoptosis

17888903



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
ChiTaRS5.0N/AAI089783RBL1chr20

35720801

+DLC1chr8

13042823

+


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Fusion Gene ORF analysis for RBL1-DLC1

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-intronENST00000344359ENST00000276297RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000344359ENST00000316609RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000344359ENST00000358919RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000344359ENST00000510318RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000344359ENST00000511869RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000344359ENST00000512044RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000344359ENST00000520226RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000373664ENST00000276297RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000373664ENST00000316609RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000373664ENST00000358919RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000373664ENST00000510318RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000373664ENST00000511869RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000373664ENST00000512044RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000373664ENST00000520226RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000598590ENST00000276297RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000598590ENST00000316609RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000598590ENST00000358919RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000598590ENST00000510318RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000598590ENST00000511869RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000598590ENST00000512044RBL1chr20

35720801

+DLC1chr8

13042823

+
intron-intronENST00000598590ENST00000520226RBL1chr20

35720801

+DLC1chr8

13042823

+

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 RBL1-DLC1


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)


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Fusion Protein Features for RBL1-DLC1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:35720801/:13042823)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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 RBL1-DLC1


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 RBL1-DLC1


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 RBL1-DLC1


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 RBL1-DLC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0006826Malignant Neoplasms1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0027651Neoplasms1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0086692Benign Neoplasm1CTD_human
TgeneC0919267ovarian neoplasm1CTD_human
TgeneC1140680Malignant neoplasm of ovary1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human