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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:DDX17-FBLN1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: DDX17-FBLN1
FusionPDB ID: 21904
FusionGDB2.0 ID: 21904
HgeneTgene
Gene symbol

DDX17

FBLN1

Gene ID

10521

2192

Gene nameDEAD-box helicase 17fibulin 1
SynonymsP72|RH70FBLN|FIBL1
Cytomap

22q13.1

22q13.31

Type of geneprotein-codingprotein-coding
Descriptionprobable ATP-dependent RNA helicase DDX17DEAD (Asp-Glu-Ala-Asp) box helicase 17DEAD (Asp-Glu-Ala-Asp) box polypeptide 17DEAD box protein p72DEAD box protein p82DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)RNA-dependent helicase p72fibulin-1
Modification date2020032720200313
UniProtAcc

Q92841

P23142

Ensembl transtripts involved in fusion geneENST idsENST00000381633, ENST00000396821, 
ENST00000432525, ENST00000444597, 
ENST00000262722, ENST00000327858, 
ENST00000340923, ENST00000348697, 
ENST00000402984, ENST00000442170, 
ENST00000476366, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score17 X 18 X 8=244822 X 22 X 9=4356
# samples 2027
** MAII scorelog2(20/2448*10)=-3.61353165291793
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(27/4356*10)=-4.01197264166608
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: DDX17 [Title/Abstract] AND FBLN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)DDX17(38901955)-FBLN1(45937108), # samples:1
Anticipated loss of major functional domain due to fusion event.DDX17-FBLN1 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.
DDX17-FBLN1 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.
DDX17-FBLN1 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.
DDX17-FBLN1 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.
DDX17-FBLN1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
DDX17-FBLN1 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
HgeneDDX17

GO:0045944

positive regulation of transcription by RNA polymerase II

17226766

TgeneFBLN1

GO:0001933

negative regulation of protein phosphorylation

11792823

TgeneFBLN1

GO:0007162

negative regulation of cell adhesion

11792823

TgeneFBLN1

GO:0007229

integrin-mediated signaling pathway

11792823

TgeneFBLN1

GO:0070373

negative regulation of ERK1 and ERK2 cascade

11792823

TgeneFBLN1

GO:0072378

blood coagulation, fibrin clot formation

7642629

TgeneFBLN1

GO:1900025

negative regulation of substrate adhesion-dependent cell spreading

11792823

TgeneFBLN1

GO:2000146

negative regulation of cell motility

11792823

TgeneFBLN1

GO:2000647

negative regulation of stem cell proliferation

11238726


check buttonFusion gene breakpoints across DDX17 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across FBLN1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4BLCATCGA-GC-A3I6DDX17chr22

38901955

-FBLN1chr22

45937108

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000396821DDX17chr2238901955-ENST00000476366FBLN1chr2245937108+12593871761078300
ENST00000381633DDX17chr2238901955-ENST00000476366FBLN1chr2245937108+12623901791081300

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
ENST00000396821ENST00000476366DDX17chr2238901955-FBLN1chr2245937108+0.0301303230.9698696
ENST00000381633ENST00000476366DDX17chr2238901955-FBLN1chr2245937108+0.0276140380.97238594

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>21904_21904_1_DDX17-FBLN1_DDX17_chr22_38901955_ENST00000381633_FBLN1_chr22_45937108_ENST00000476366_length(amino acids)=300AA_BP=70
MRRETARRSERALRLPPPQQRRRRRHRSSPDRSRRPSRARPSVPRSQISILLGPCAEEALGTGTGIVTVEDINECLSISAPCPIGHTCIN
TEGSYTCQKNVPNCGRGYHLNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRLCGHKCEN
TLGSYLCSCSVGFRLSVDGRSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECVTGIHNCSINETCFNIQGGFRC

--------------------------------------------------------------

>21904_21904_2_DDX17-FBLN1_DDX17_chr22_38901955_ENST00000396821_FBLN1_chr22_45937108_ENST00000476366_length(amino acids)=300AA_BP=70
MRRETARRSERALRLPPPQQRRRRRHRSSPDRSRRPSRARPSVPRSQISILLGPCAEEALGTGTGIVTVEDINECLSISAPCPIGHTCIN
TEGSYTCQKNVPNCGRGYHLNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRLCGHKCEN
TLGSYLCSCSVGFRLSVDGRSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECVTGIHNCSINETCFNIQGGFRC

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Fusion Protein Functional Features


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/chr22:38901955/chr22:45937108)
- 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
DDX17

Q92841

FBLN1

P23142

FUNCTION: As an RNA helicase, unwinds RNA and alters RNA structures through ATP binding and hydrolysis. Involved in multiple cellular processes, including pre-mRNA splicing, alternative splicing, ribosomal RNA processing and miRNA processing, as well as transcription regulation. Regulates the alternative splicing of exons exhibiting specific features (PubMed:12138182, PubMed:23022728, PubMed:24910439, PubMed:22266867). For instance, promotes the inclusion of AC-rich alternative exons in CD44 transcripts (PubMed:12138182). This function requires the RNA helicase activity (PubMed:12138182, PubMed:23022728, PubMed:24910439, PubMed:22266867). Affects NFAT5 and histone macro-H2A.1/MACROH2A1 alternative splicing in a CDK9-dependent manner (PubMed:26209609, PubMed:22266867). In NFAT5, promotes the introduction of alternative exon 4, which contains 2 stop codons and may target NFAT5 exon 4-containing transcripts to nonsense-mediated mRNA decay, leading to the down-regulation of NFAT5 protein (PubMed:22266867). Affects splicing of mediators of steroid hormone signaling pathway, including kinases that phosphorylates ESR1, such as CDK2, MAPK1 and GSK3B, and transcriptional regulators, such as CREBBP, MED1, NCOR1 and NCOR2. By affecting GSK3B splicing, participates in ESR1 and AR stabilization (PubMed:24275493). In myoblasts and epithelial cells, cooperates with HNRNPH1 to control the splicing of specific subsets of exons (PubMed:24910439). In addition to binding mature mRNAs, also interacts with certain pri-microRNAs, including MIR663/miR-663a, MIR99B/miR-99b, and MIR6087/miR-6087 (PubMed:25126784). Binds pri-microRNAs on the 3' segment flanking the stem loop via the 5'-[ACG]CAUC[ACU]-3' consensus sequence (PubMed:24581491). Required for the production of subsets of microRNAs, including MIR21 and MIR125B1 (PubMed:24581491, PubMed:27478153). May be involved not only in microRNA primary transcript processing, but also stabilization (By similarity). Participates in MYC down-regulation at high cell density through the production of MYC-targeting microRNAs (PubMed:24581491). Along with DDX5, may be involved in the processing of the 32S intermediate into the mature 28S ribosomal RNA (PubMed:17485482). Promoter-specific transcription regulator, functioning as a coactivator or corepressor depending on the context of the promoter and the transcriptional complex in which it exists (PubMed:15298701). Enhances NFAT5 transcriptional activity (PubMed:22266867). Synergizes with TP53 in the activation of the MDM2 promoter; this activity requires acetylation on lysine residues (PubMed:17226766, PubMed:20663877, PubMed:19995069). May also coactivate MDM2 transcription through a TP53-independent pathway (PubMed:17226766). Coactivates MMP7 transcription (PubMed:17226766). Along with CTNNB1, coactivates MYC, JUN, FOSL1 and cyclin D1/CCND1 transcription (PubMed:17699760). Alone or in combination with DDX5 and/or SRA1 non-coding RNA, plays a critical role in promoting the assembly of proteins required for the formation of the transcription initiation complex and chromatin remodeling leading to coactivation of MYOD1-dependent transcription. This helicase-independent activity is required for skeletal muscle cells to properly differentiate into myotubes (PubMed:17011493, PubMed:24910439). During epithelial-to-mesenchymal transition, coregulates SMAD-dependent transcriptional activity, directly controlling key effectors of differentiation, including miRNAs which in turn directly repress its expression (PubMed:24910439). Plays a role in estrogen and testosterone signaling pathway at several levels. Mediates the use of alternative promoters in estrogen-responsive genes and regulates transcription and splicing of a large number of steroid hormone target genes (PubMed:24275493, PubMed:20406972, PubMed:20663877, PubMed:19995069). Contrary to splicing regulation activity, transcriptional coregulation of the estrogen receptor ESR1 is helicase-independent (PubMed:19718048, PubMed:24275493). Plays a role in innate immunity. Specifically restricts bunyavirus infection, including Rift Valley fever virus (RVFV) or La Crosse virus (LACV), but not vesicular stomatitis virus (VSV), in an interferon- and DROSHA-independent manner (PubMed:25126784). Binds to RVFV RNA, likely via structured viral RNA elements (PubMed:25126784). Promotes mRNA degradation mediated by the antiviral zinc-finger protein ZC3HAV1, in an ATPase-dependent manner (PubMed:18334637). {ECO:0000250|UniProtKB:Q501J6, ECO:0000269|PubMed:12138182, ECO:0000269|PubMed:15298701, ECO:0000269|PubMed:17011493, ECO:0000269|PubMed:17226766, ECO:0000269|PubMed:17485482, ECO:0000269|PubMed:17699760, ECO:0000269|PubMed:18334637, ECO:0000269|PubMed:19718048, ECO:0000269|PubMed:19995069, ECO:0000269|PubMed:20406972, ECO:0000269|PubMed:20663877, ECO:0000269|PubMed:22266867, ECO:0000269|PubMed:23022728, ECO:0000269|PubMed:24275493, ECO:0000269|PubMed:24581491, ECO:0000269|PubMed:24910439, ECO:0000269|PubMed:25126784, ECO:0000269|PubMed:26209609, ECO:0000269|PubMed:27478153, ECO:0000305}.FUNCTION: Incorporated into fibronectin-containing matrix fibers. May play a role in cell adhesion and migration along protein fibers within the extracellular matrix (ECM). Could be important for certain developmental processes and contribute to the supramolecular organization of ECM architecture, in particular to those of basement membranes. Has been implicated in a role in cellular transformation and tumor invasion, it appears to be a tumor suppressor. May play a role in haemostasis and thrombosis owing to its ability to bind fibrinogen and incorporate into clots. Could play a significant role in modulating the neurotrophic activities of APP, particularly soluble APP. {ECO:0000269|PubMed:11792823, ECO:0000269|PubMed:9393974, ECO:0000269|PubMed:9466671}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneFBLN1chr22:38901955chr22:45937108ENST00000262722715308_355307.3333333333333684.0DomainEGF-like 4%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000262722715356_398307.3333333333333684.0DomainEGF-like 5%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000262722715399_440307.3333333333333684.0DomainEGF-like 6%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000262722715441_480307.3333333333333684.0DomainEGF-like 7%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000262722715481_524307.3333333333333684.0DomainEGF-like 8%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000262722715525_578307.3333333333333684.0DomainEGF-like 9%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000327858717308_355307.3333333333333704.0DomainEGF-like 4%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000327858717356_398307.3333333333333704.0DomainEGF-like 5%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000327858717399_440307.3333333333333704.0DomainEGF-like 6%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000327858717441_480307.3333333333333704.0DomainEGF-like 7%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000327858717481_524307.3333333333333704.0DomainEGF-like 8%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000327858717525_578307.3333333333333704.0DomainEGF-like 9%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000340923715308_355307.3333333333333567.0DomainEGF-like 4%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000340923715356_398307.3333333333333567.0DomainEGF-like 5%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000340923715399_440307.3333333333333567.0DomainEGF-like 6%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000340923715441_480307.3333333333333567.0DomainEGF-like 7%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000340923715481_524307.3333333333333567.0DomainEGF-like 8%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000340923715525_578307.3333333333333567.0DomainEGF-like 9%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000262722715356_440307.3333333333333684.0RegionNote=Self-association and FN1-binding%3B calcium is necessary for homotypic binding%2C but not for heterotypic binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000327858717356_440307.3333333333333704.0RegionNote=Self-association and FN1-binding%3B calcium is necessary for homotypic binding%2C but not for heterotypic binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000340923715356_440307.3333333333333567.0RegionNote=Self-association and FN1-binding%3B calcium is necessary for homotypic binding%2C but not for heterotypic binding

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneFBLN1chr22:38901955chr22:45937108ENST00000262722715112_144307.3333333333333684.0DomainAnaphylatoxin-like 3
TgeneFBLN1chr22:38901955chr22:45937108ENST00000262722715176_215307.3333333333333684.0DomainEGF-like 1
TgeneFBLN1chr22:38901955chr22:45937108ENST00000262722715216_261307.3333333333333684.0DomainEGF-like 2%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000262722715262_307307.3333333333333684.0DomainEGF-like 3%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST0000026272271536_76307.3333333333333684.0DomainAnaphylatoxin-like 1
TgeneFBLN1chr22:38901955chr22:45937108ENST0000026272271577_111307.3333333333333684.0DomainAnaphylatoxin-like 2
TgeneFBLN1chr22:38901955chr22:45937108ENST00000327858717112_144307.3333333333333704.0DomainAnaphylatoxin-like 3
TgeneFBLN1chr22:38901955chr22:45937108ENST00000327858717176_215307.3333333333333704.0DomainEGF-like 1
TgeneFBLN1chr22:38901955chr22:45937108ENST00000327858717216_261307.3333333333333704.0DomainEGF-like 2%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000327858717262_307307.3333333333333704.0DomainEGF-like 3%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST0000032785871736_76307.3333333333333704.0DomainAnaphylatoxin-like 1
TgeneFBLN1chr22:38901955chr22:45937108ENST0000032785871777_111307.3333333333333704.0DomainAnaphylatoxin-like 2
TgeneFBLN1chr22:38901955chr22:45937108ENST00000340923715112_144307.3333333333333567.0DomainAnaphylatoxin-like 3
TgeneFBLN1chr22:38901955chr22:45937108ENST00000340923715176_215307.3333333333333567.0DomainEGF-like 1
TgeneFBLN1chr22:38901955chr22:45937108ENST00000340923715216_261307.3333333333333567.0DomainEGF-like 2%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST00000340923715262_307307.3333333333333567.0DomainEGF-like 3%3B calcium-binding
TgeneFBLN1chr22:38901955chr22:45937108ENST0000034092371536_76307.3333333333333567.0DomainAnaphylatoxin-like 1
TgeneFBLN1chr22:38901955chr22:45937108ENST0000034092371577_111307.3333333333333567.0DomainAnaphylatoxin-like 2


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
DDX17
FBLN1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to DDX17-FBLN1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to DDX17-FBLN1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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