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:CCDC92-BDKRB2 (FusionGDB2 ID:HG80212TG624)

Fusion Gene Summary for CCDC92-BDKRB2

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC92-BDKRB2
Fusion gene ID: hg80212tg624
HgeneTgene
Gene symbol

CCDC92

BDKRB2

Gene ID

80212

624

Gene namecoiled-coil domain containing 92bradykinin receptor B2
Synonyms-B2R|BK-2|BK2|BKR2|BRB2
Cytomap('CCDC92')('BDKRB2')

12q24.31

14q32.2

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil domain-containing protein 92limkain beta 2B2 bradykinin receptorBK-2 receptor
Modification date2020031320200329
UniProtAcc

Q53HC0

.
Ensembl transtripts involved in fusion geneENST00000238156, ENST00000544798, 
ENST00000545135, ENST00000545891, 
Fusion gene scores* DoF score7 X 5 X 4=1401 X 1 X 1=1
# samples 61
** MAII scorelog2(6/140*10)=-1.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: CCDC92 [Title/Abstract] AND BDKRB2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCDC92(124421131)-BDKRB2(96707934), # samples:3
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
TgeneBDKRB2

GO:0050482

arachidonic acid secretion

17077303



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


Top

Fusion Gene ORF analysis for CCDC92-BDKRB2

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

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 CCDC92-BDKRB2


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)


Top

Fusion Protein Features for CCDC92-BDKRB2


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/:124421131/:96707934)
- 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
CCDC92

Q53HC0

.
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 CCDC92-BDKRB2


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 CCDC92-BDKRB2


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 CCDC92-BDKRB2


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 CCDC92-BDKRB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCCDC92C0010068Coronary heart disease1CTD_human
HgeneCCDC92C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0020429Hyperalgesia3CTD_human
TgeneC0458247Allodynia3CTD_human
TgeneC0751211Hyperalgesia, Primary3CTD_human
TgeneC0751212Hyperalgesia, Secondary3CTD_human
TgeneC0751213Tactile Allodynia3CTD_human
TgeneC0751214Hyperalgesia, Thermal3CTD_human
TgeneC2936719Mechanical Allodynia3CTD_human
TgeneC0020649Hypotension2CTD_human
TgeneC0003873Rheumatoid Arthritis1CTD_human
TgeneC0005586Bipolar Disorder1PSYGENET
TgeneC0014556Epilepsy, Temporal Lobe1CTD_human
TgeneC0014558Uncinate Epilepsy1CTD_human
TgeneC0015378Extravasation of Contrast Media1CTD_human
TgeneC0019080Hemorrhage1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0020452Hyperemia1CTD_human
TgeneC0020538Hypertensive disease1CTD_human
TgeneC0021368Inflammation1CTD_human
TgeneC0022660Kidney Failure, Acute1CTD_human
TgeneC0028796Dermatitis, Occupational1CTD_human
TgeneC0030193Pain1CTD_human
TgeneC0033141Cardiomyopathies, Primary1CTD_human
TgeneC0036529Myocardial Diseases, Secondary1CTD_human
TgeneC0040053Thrombosis1CTD_human
TgeneC0041696Unipolar Depression1PSYGENET
TgeneC0042484Venous Engorgement1CTD_human
TgeneC0086457Industrial Dermatosis1CTD_human
TgeneC0087086Thrombus1CTD_human
TgeneC0178824Reactive Hyperemia1CTD_human
TgeneC0234230Pain, Burning1CTD_human
TgeneC0234238Ache1CTD_human
TgeneC0234254Radiating pain1CTD_human
TgeneC0333233Active Hyperemia1CTD_human
TgeneC0393672Epilepsy, Benign Psychomotor, Childhood1CTD_human
TgeneC0393682Epilepsy, Lateral Temporal1CTD_human
TgeneC0458257Pain, Splitting1CTD_human
TgeneC0458259Pain, Crushing1CTD_human
TgeneC0751407Pain, Migratory1CTD_human
TgeneC0751408Suffering, Physical1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC0878544Cardiomyopathies1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1269683Major Depressive Disorder1PSYGENET
TgeneC1565662Acute Kidney Insufficiency1CTD_human
TgeneC2609414Acute kidney injury1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human