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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:CCDC66-FLNB (FusionGDB2 ID:13929)

Fusion Gene Summary for CCDC66-FLNB

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC66-FLNB
Fusion gene ID: 13929
HgeneTgene
Gene symbol

CCDC66

FLNB

Gene ID

285331

2317

Gene namecoiled-coil domain containing 66filamin B
Synonyms-ABP-278|ABP-280|AOI|FH1|FLN-B|FLN1L|LRS1|SCT|TABP|TAP
Cytomap

3p14.3

3p14.3

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil domain-containing protein 66filamin-BABP-280 homologLarsen syndrome 1 (autosomal dominant)actin binding protein 278actin-binding-like proteinbeta-filaminfilamin B, betafilamin homolog 1filamin-3thyroid autoantigen
Modification date2020031320200313
UniProtAcc.

O75369

Ensembl transtripts involved in fusion geneENST00000394672, ENST00000326595, 
ENST00000436465, ENST00000442522, 
ENST00000538560, 		ENST00000490882, 
ENST00000429972, ENST00000295956, 
ENST00000358537, ENST00000357272, 
ENST00000348383, ENST00000493452, 
ENST00000419752, ENST00000484981, 
Fusion gene scores* DoF score3 X 3 X 3=2719 X 22 X 8=3344
# samples 323
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(23/3344*10)=-3.86186908113651
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CCDC66 [Title/Abstract] AND FLNB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCDC66(56628056)-FLNB(58087930), # samples:2
Anticipated loss of major functional domain due to fusion event.CCDC66-FLNB 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

check buttonFusion gene breakpoints across CCDC66 (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 FLNB (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
ChimerDB4BRCATCGA-GM-A3NY-01ACCDC66chr3

56628056

+FLNBchr3

58087930

+
ChimerDB4BRCATCGA-GM-A3NY-01ACCDC66chr3

56628056

-FLNBchr3

58087930

+


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Fusion Gene ORF analysis for CCDC66-FLNB

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
Frame-shiftENST00000394672ENST00000490882CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000394672ENST00000429972CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000394672ENST00000295956CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000394672ENST00000358537CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000394672ENST00000357272CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000394672ENST00000348383CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000394672ENST00000493452CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000394672ENST00000419752CCDC66chr3

56628056

+FLNBchr3

58087930

+
5CDS-intronENST00000394672ENST00000484981CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000326595ENST00000490882CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000326595ENST00000429972CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000326595ENST00000295956CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000326595ENST00000358537CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000326595ENST00000357272CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000326595ENST00000348383CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000326595ENST00000493452CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000326595ENST00000419752CCDC66chr3

56628056

+FLNBchr3

58087930

+
5CDS-intronENST00000326595ENST00000484981CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000436465ENST00000490882CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000436465ENST00000429972CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000436465ENST00000295956CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000436465ENST00000358537CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000436465ENST00000357272CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000436465ENST00000348383CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000436465ENST00000493452CCDC66chr3

56628056

+FLNBchr3

58087930

+
Frame-shiftENST00000436465ENST00000419752CCDC66chr3

56628056

+FLNBchr3

58087930

+
5CDS-intronENST00000436465ENST00000484981CCDC66chr3

56628056

+FLNBchr3

58087930

+
intron-3CDSENST00000442522ENST00000490882CCDC66chr3

56628056

+FLNBchr3

58087930

+
intron-3CDSENST00000442522ENST00000429972CCDC66chr3

56628056

+FLNBchr3

58087930

+
intron-3CDSENST00000442522ENST00000295956CCDC66chr3

56628056

+FLNBchr3

58087930

+
intron-3CDSENST00000442522ENST00000358537CCDC66chr3

56628056

+FLNBchr3

58087930

+
intron-3CDSENST00000442522ENST00000357272CCDC66chr3

56628056

+FLNBchr3

58087930

+
intron-3CDSENST00000442522ENST00000348383CCDC66chr3

56628056

+FLNBchr3

58087930

+
intron-3CDSENST00000442522ENST00000493452CCDC66chr3

56628056

+FLNBchr3

58087930

+
intron-3CDSENST00000442522ENST00000419752CCDC66chr3

56628056

+FLNBchr3

58087930

+
intron-intronENST00000442522ENST00000484981CCDC66chr3

56628056

+FLNBchr3

58087930

+
intron-3CDSENST00000538560ENST00000490882CCDC66chr3

56628056

+FLNBchr3

58087930

+
intron-3CDSENST00000538560ENST00000429972CCDC66chr3

56628056

+FLNBchr3

58087930

+
intron-3CDSENST00000538560ENST00000295956CCDC66chr3

56628056

+FLNBchr3

58087930

+
intron-3CDSENST00000538560ENST00000358537CCDC66chr3

56628056

+FLNBchr3

58087930

+
intron-3CDSENST00000538560ENST00000357272CCDC66chr3

56628056

+FLNBchr3

58087930

+
intron-3CDSENST00000538560ENST00000348383CCDC66chr3

56628056

+FLNBchr3

58087930

+
intron-3CDSENST00000538560ENST00000493452CCDC66chr3

56628056

+FLNBchr3

58087930

+
intron-3CDSENST00000538560ENST00000419752CCDC66chr3

56628056

+FLNBchr3

58087930

+
intron-intronENST00000538560ENST00000484981CCDC66chr3

56628056

+FLNBchr3

58087930

+

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 CCDC66-FLNB


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)
CCDC66chr356628056+FLNBchr358087929+3.17E-060.9999968
CCDC66chr356628056+FLNBchr358087929+3.17E-060.9999968

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 CCDC66-FLNB


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
.FLNB

O75369

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: Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction with FLNA may allow neuroblast migration from the ventricular zone into the cortical plate. Various interactions and localizations of isoforms affect myotube morphology and myogenesis. Isoform 6 accelerates muscle differentiation in vitro.

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 CCDC66-FLNB


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 CCDC66-FLNB


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 CCDC66-FLNB


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 CCDC66-FLNB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFLNBC0175778Larsen syndrome2GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneFLNBC0432201Boomerang dysplasia2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneFLNBC0265283Atelosteogenesis, type 11CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneFLNBC1848934SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME1CTD_human;GENOMICS_ENGLAND
TgeneFLNBC2931648Larsen syndrome, dominant type1CTD_human;ORPHANET
TgeneFLNBC3668942Atelosteogenesis Type 31CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT