Fusion Gene Studies
in Kim Lab

FusionBase FusionGDB FusionGDB2 FusionPDB FusionNeoAntigen FusionAI FusionNW FGviewer Publication Contact
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:C11orf80-RBM14 (FusionGDB2 ID:HG79703TG10432)

Fusion Gene Summary for C11orf80-RBM14

check button Fusion gene summary
Fusion gene informationFusion gene name: C11orf80-RBM14
Fusion gene ID: hg79703tg10432
HgeneTgene
Gene symbol

C11orf80

RBM14

Gene ID

79703

10432

Gene namechromosome 11 open reading frame 80RNA binding motif protein 14
SynonymsHYDM4|TOP6BL|TOPOVIBLCOAA|PSP2|SIP|SYTIP1|TMEM137
Cytomap('C11orf80')('RBM14')

11q13.2

11q13.2

Type of geneprotein-codingprotein-coding
Descriptiontype 2 DNA topoisomerase 6 subunit B-liketype 2 DNA topoisomerase VI subunit B-likeRNA-binding protein 14RRM-containing coactivator activator/modulatorSYT-interacting proteinparaspeckle protein 2synaptotagmin-interacting proteintransmembrane protein 137
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000346672, ENST00000360962, 
ENST00000525449, ENST00000527634, 
ENST00000532565, ENST00000540737, 
ENST00000527368, 		ENST00000527368, 
ENST00000525449, ENST00000527634, 
ENST00000532565, ENST00000540737, 
ENST00000346672, ENST00000360962, 
Fusion gene scores* DoF score13 X 8 X 7=7286 X 4 X 4=96
# samples 166
** MAII scorelog2(16/728*10)=-2.18586654531133
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C11orf80 [Title/Abstract] AND RBM14 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC11orf80(66595835)-RBM14(66391685), # samples:3
Anticipated loss of major functional domain due to fusion event.RBM14-C11orf80 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
RBM14-C11orf80 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
C11orf80-RBM14 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
C11orf80-RBM14 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
TgeneRBM14

GO:0002218

activation of innate immune response

28712728

TgeneRBM14

GO:0045944

positive regulation of transcription by RNA polymerase II

11443112|15919756



check button Fusion gene information
* 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
ChimerDB4LUADTCGA-73-7499-01AC11orf80chr11

66595835

-RBM14chr11

66391685

+
ChimerDB4LUADTCGA-73-7499-01AC11orf80chr11

66595835

+RBM14chr11

66391685

+


Top

Fusion Gene ORF analysis for C11orf80-RBM14

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
5CDS-3UTRENST00000346672ENST00000443702C11orf80chr11

66595835

+RBM14chr11

66391685

+
5CDS-3UTRENST00000346672ENST00000461478C11orf80chr11

66595835

+RBM14chr11

66391685

+
5CDS-3UTRENST00000360962ENST00000443702C11orf80chr11

66595835

+RBM14chr11

66391685

+
5CDS-3UTRENST00000360962ENST00000461478C11orf80chr11

66595835

+RBM14chr11

66391685

+
5CDS-3UTRENST00000525449ENST00000443702C11orf80chr11

66595835

+RBM14chr11

66391685

+
5CDS-3UTRENST00000525449ENST00000461478C11orf80chr11

66595835

+RBM14chr11

66391685

+
5CDS-3UTRENST00000527634ENST00000443702C11orf80chr11

66595835

+RBM14chr11

66391685

+
5CDS-3UTRENST00000527634ENST00000461478C11orf80chr11

66595835

+RBM14chr11

66391685

+
5CDS-3UTRENST00000532565ENST00000443702C11orf80chr11

66595835

+RBM14chr11

66391685

+
5CDS-3UTRENST00000532565ENST00000461478C11orf80chr11

66595835

+RBM14chr11

66391685

+
5CDS-3UTRENST00000540737ENST00000443702C11orf80chr11

66595835

+RBM14chr11

66391685

+
5CDS-3UTRENST00000540737ENST00000461478C11orf80chr11

66595835

+RBM14chr11

66391685

+
5CDS-intronENST00000346672ENST00000409738C11orf80chr11

66595835

+RBM14chr11

66391685

+
5CDS-intronENST00000360962ENST00000409738C11orf80chr11

66595835

+RBM14chr11

66391685

+
5CDS-intronENST00000525449ENST00000409738C11orf80chr11

66595835

+RBM14chr11

66391685

+
5CDS-intronENST00000527634ENST00000409738C11orf80chr11

66595835

+RBM14chr11

66391685

+
5CDS-intronENST00000532565ENST00000409738C11orf80chr11

66595835

+RBM14chr11

66391685

+
5CDS-intronENST00000540737ENST00000409738C11orf80chr11

66595835

+RBM14chr11

66391685

+
Frame-shiftENST00000346672ENST00000310137C11orf80chr11

66595835

+RBM14chr11

66391685

+
Frame-shiftENST00000346672ENST00000393979C11orf80chr11

66595835

+RBM14chr11

66391685

+
Frame-shiftENST00000346672ENST00000409372C11orf80chr11

66595835

+RBM14chr11

66391685

+
Frame-shiftENST00000360962ENST00000310137C11orf80chr11

66595835

+RBM14chr11

66391685

+
Frame-shiftENST00000360962ENST00000393979C11orf80chr11

66595835

+RBM14chr11

66391685

+
Frame-shiftENST00000360962ENST00000409372C11orf80chr11

66595835

+RBM14chr11

66391685

+
Frame-shiftENST00000525449ENST00000310137C11orf80chr11

66595835

+RBM14chr11

66391685

+
Frame-shiftENST00000525449ENST00000393979C11orf80chr11

66595835

+RBM14chr11

66391685

+
Frame-shiftENST00000525449ENST00000409372C11orf80chr11

66595835

+RBM14chr11

66391685

+
Frame-shiftENST00000527634ENST00000310137C11orf80chr11

66595835

+RBM14chr11

66391685

+
Frame-shiftENST00000527634ENST00000393979C11orf80chr11

66595835

+RBM14chr11

66391685

+
Frame-shiftENST00000527634ENST00000409372C11orf80chr11

66595835

+RBM14chr11

66391685

+
Frame-shiftENST00000532565ENST00000310137C11orf80chr11

66595835

+RBM14chr11

66391685

+
Frame-shiftENST00000532565ENST00000393979C11orf80chr11

66595835

+RBM14chr11

66391685

+
Frame-shiftENST00000532565ENST00000409372C11orf80chr11

66595835

+RBM14chr11

66391685

+
Frame-shiftENST00000540737ENST00000310137C11orf80chr11

66595835

+RBM14chr11

66391685

+
Frame-shiftENST00000540737ENST00000393979C11orf80chr11

66595835

+RBM14chr11

66391685

+
Frame-shiftENST00000540737ENST00000409372C11orf80chr11

66595835

+RBM14chr11

66391685

+
intron-3CDSENST00000527368ENST00000310137C11orf80chr11

66595835

+RBM14chr11

66391685

+
intron-3CDSENST00000527368ENST00000393979C11orf80chr11

66595835

+RBM14chr11

66391685

+
intron-3CDSENST00000527368ENST00000409372C11orf80chr11

66595835

+RBM14chr11

66391685

+
intron-3UTRENST00000527368ENST00000443702C11orf80chr11

66595835

+RBM14chr11

66391685

+
intron-3UTRENST00000527368ENST00000461478C11orf80chr11

66595835

+RBM14chr11

66391685

+
intron-intronENST00000527368ENST00000409738C11orf80chr11

66595835

+RBM14chr11

66391685

+

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

Top

Fusion Genomic Features for C11orf80-RBM14


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)
C11orf80chr1166595835+RBM14chr1166391684+1.96E-131
C11orf80chr1166595835+RBM14chr1166391684+1.96E-131


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.
genomic feature of top 1%

Top

Fusion Protein Features for C11orf80-RBM14


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/:66595835/:66391685)
- 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


Top

Fusion Gene Sequence for C11orf80-RBM14


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.

Top

Fusion Gene PPI Analysis for C11orf80-RBM14


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


Top

Related Drugs for C11orf80-RBM14


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

Top

Related Diseases for C11orf80-RBM14


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneC11orf80C0678213Complete hydatidiform mole1ORPHANET