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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:IQCE-FSCN1 (FusionGDB2 ID:39936)

Fusion Gene Summary for IQCE-FSCN1

check button Fusion gene summary
Fusion gene informationFusion gene name: IQCE-FSCN1
Fusion gene ID: 39936
HgeneTgene
Gene symbol

IQCE

FSCN1

Gene ID

23288

6624

Gene nameIQ motif containing Efascin actin-bundling protein 1
Synonyms1700028P05Rik|PAPA7FAN1|HSN|SNL|p55
Cytomap

7p22.3

7p22.1

Type of geneprotein-codingprotein-coding
DescriptionIQ domain-containing protein Efascin55 kDa actin-bundling proteinepididymis secretory sperm binding proteinfascin homolog 1, actin-bundling proteinsinged-like (fascin homolog, sea urchin)
Modification date2020031320200313
UniProtAcc

Q6IPM2

Q16658

Ensembl transtripts involved in fusion geneENST00000404984, ENST00000402050, 
ENST00000438376, ENST00000325979, 
ENST00000497572, 
ENST00000340250, 
ENST00000382361, 
Fusion gene scores* DoF score7 X 6 X 6=2524 X 3 X 3=36
# samples 74
** MAII scorelog2(7/252*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: IQCE [Title/Abstract] AND FSCN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIQCE(2598851)-FSCN1(5642887), # 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
TgeneFSCN1

GO:0007043

cell-cell junction assembly

9571235

TgeneFSCN1

GO:0010592

positive regulation of lamellipodium assembly

9571235

TgeneFSCN1

GO:0030035

microspike assembly

9571235

TgeneFSCN1

GO:0030036

actin cytoskeleton organization

9571235

TgeneFSCN1

GO:0030046

parallel actin filament bundle assembly

21685497

TgeneFSCN1

GO:0032534

regulation of microvillus assembly

9571235

TgeneFSCN1

GO:0032956

regulation of actin cytoskeleton organization

20137952

TgeneFSCN1

GO:0035089

establishment of apical/basal cell polarity

9571235

TgeneFSCN1

GO:0048870

cell motility

9571235

TgeneFSCN1

GO:0051017

actin filament bundle assembly

20393565

TgeneFSCN1

GO:0051491

positive regulation of filopodium assembly

9571235|21685497

TgeneFSCN1

GO:0071803

positive regulation of podosome assembly

20137952

TgeneFSCN1

GO:0090091

positive regulation of extracellular matrix disassembly

20137952


check buttonFusion gene breakpoints across IQCE (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 FSCN1 (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
ChimerDB4LAMLTCGA-AB-2815IQCEchr7

2598851

+FSCN1chr7

5642887

+


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Fusion Gene ORF analysis for IQCE-FSCN1

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-shiftENST00000404984ENST00000340250IQCEchr7

2598851

+FSCN1chr7

5642887

+
Frame-shiftENST00000404984ENST00000382361IQCEchr7

2598851

+FSCN1chr7

5642887

+
Frame-shiftENST00000402050ENST00000340250IQCEchr7

2598851

+FSCN1chr7

5642887

+
Frame-shiftENST00000402050ENST00000382361IQCEchr7

2598851

+FSCN1chr7

5642887

+
Frame-shiftENST00000438376ENST00000340250IQCEchr7

2598851

+FSCN1chr7

5642887

+
Frame-shiftENST00000438376ENST00000382361IQCEchr7

2598851

+FSCN1chr7

5642887

+
intron-3CDSENST00000325979ENST00000340250IQCEchr7

2598851

+FSCN1chr7

5642887

+
intron-3CDSENST00000325979ENST00000382361IQCEchr7

2598851

+FSCN1chr7

5642887

+
intron-3CDSENST00000497572ENST00000340250IQCEchr7

2598851

+FSCN1chr7

5642887

+
intron-3CDSENST00000497572ENST00000382361IQCEchr7

2598851

+FSCN1chr7

5642887

+

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 IQCE-FSCN1


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)
IQCEchr72598851+FSCN1chr75642887+8.01E-161
IQCEchr72598851+FSCN1chr75642887+8.01E-161

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 IQCE-FSCN1


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
IQCE

Q6IPM2

FSCN1

Q16658

FUNCTION: Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling (By similarity). Required for proper limb morphogenesis (PubMed:28488682). {ECO:0000250|UniProtKB:Q6PCQ0, ECO:0000269|PubMed:28488682}.FUNCTION: Actin-binding protein that contains 2 major actin binding sites (PubMed:21685497, PubMed:23184945). Organizes filamentous actin into parallel bundles (PubMed:20393565, PubMed:21685497, PubMed:23184945). Plays a role in the organization of actin filament bundles and the formation of microspikes, membrane ruffles, and stress fibers (PubMed:22155786). Important for the formation of a diverse set of cell protrusions, such as filopodia, and for cell motility and migration (PubMed:20393565, PubMed:21685497, PubMed:23184945). Mediates reorganization of the actin cytoskeleton and axon growth cone collapse in response to NGF (PubMed:22155786). {ECO:0000269|PubMed:20137952, ECO:0000269|PubMed:20393565, ECO:0000269|PubMed:21685497, ECO:0000269|PubMed:22155786, ECO:0000269|PubMed:23184945, ECO:0000269|PubMed:9362073, ECO:0000269|PubMed:9571235}.

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 IQCE-FSCN1


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 IQCE-FSCN1


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 IQCE-FSCN1


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 IQCE-FSCN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIQCEC3887487Postaxial polydactyly type A2ORPHANET
HgeneIQCEC4539976POLYDACTYLY, POSTAXIAL, TYPE A71GENOMICS_ENGLAND