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:FBLN1-ATXN10 (FusionGDB2 ID:29448)

Fusion Gene Summary for FBLN1-ATXN10

check button Fusion gene summary
Fusion gene informationFusion gene name: FBLN1-ATXN10
Fusion gene ID: 29448
HgeneTgene
Gene symbol

FBLN1

ATXN10

Gene ID

2192

25814

Gene namefibulin 1ataxin 10
SynonymsFBLN|FIBL1E46L|HUMEEP|SCA10
Cytomap

22q13.31

22q13.31

Type of geneprotein-codingprotein-coding
Descriptionfibulin-1ataxin-10brain protein E46 homologspinocerebellar ataxia type 10 protein
Modification date2020031320200313
UniProtAcc

P23142

Q9UBB4

Ensembl transtripts involved in fusion geneENST00000348697, ENST00000402984, 
ENST00000262722, ENST00000327858, 
ENST00000442170, ENST00000340923, 
ENST00000476366, 		ENST00000381061, 
ENST00000252934, ENST00000498009, 
ENST00000402380, 
Fusion gene scores* DoF score15 X 14 X 8=168024 X 19 X 12=5472
# samples 1728
** MAII scorelog2(17/1680*10)=-3.30485458152842
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(28/5472*10)=-4.28856949794093
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FBLN1 [Title/Abstract] AND ATXN10 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointATXN10(46088958)-FBLN1(45996187), # samples:2
FBLN1(45914667)-ATXN10(46134611), # samples:1
FBLN1(45931217)-ATXN10(46202839), # samples:1
Anticipated loss of major functional domain due to fusion event.ATXN10-FBLN1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ATXN10-FBLN1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
FBLN1-ATXN10 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
FBLN1-ATXN10 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
HgeneFBLN1

GO:0001933

negative regulation of protein phosphorylation

11792823

HgeneFBLN1

GO:0007162

negative regulation of cell adhesion

11792823

HgeneFBLN1

GO:0007229

integrin-mediated signaling pathway

11792823

HgeneFBLN1

GO:0070373

negative regulation of ERK1 and ERK2 cascade

11792823

HgeneFBLN1

GO:0072378

blood coagulation, fibrin clot formation

7642629

HgeneFBLN1

GO:1900025

negative regulation of substrate adhesion-dependent cell spreading

11792823

HgeneFBLN1

GO:2000146

negative regulation of cell motility

11792823

HgeneFBLN1

GO:2000647

negative regulation of stem cell proliferation

11238726

TgeneATXN10

GO:0031175

neuron projection development

16498633


check buttonFusion gene breakpoints across FBLN1 (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 ATXN10 (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
ChimerDB4UCECTCGA-EY-A1GC-01AFBLN1chr22

45914667

+ATXN10chr22

46134611

+
ChimerDB4UCECTCGA-EY-A1GC-01AFBLN1chr22

45931217

+ATXN10chr22

46202839

+


Top

Fusion Gene ORF analysis for FBLN1-ATXN10

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-shiftENST00000348697ENST00000381061FBLN1chr22

45914667

+ATXN10chr22

46134611

+
Frame-shiftENST00000348697ENST00000252934FBLN1chr22

45914667

+ATXN10chr22

46134611

+
5CDS-intronENST00000348697ENST00000498009FBLN1chr22

45914667

+ATXN10chr22

46134611

+
5CDS-intronENST00000348697ENST00000402380FBLN1chr22

45914667

+ATXN10chr22

46134611

+
Frame-shiftENST00000402984ENST00000381061FBLN1chr22

45914667

+ATXN10chr22

46134611

+
Frame-shiftENST00000402984ENST00000252934FBLN1chr22

45914667

+ATXN10chr22

46134611

+
5CDS-intronENST00000402984ENST00000498009FBLN1chr22

45914667

+ATXN10chr22

46134611

+
5CDS-intronENST00000402984ENST00000402380FBLN1chr22

45914667

+ATXN10chr22

46134611

+
Frame-shiftENST00000262722ENST00000381061FBLN1chr22

45914667

+ATXN10chr22

46134611

+
Frame-shiftENST00000262722ENST00000252934FBLN1chr22

45914667

+ATXN10chr22

46134611

+
5CDS-intronENST00000262722ENST00000498009FBLN1chr22

45914667

+ATXN10chr22

46134611

+
5CDS-intronENST00000262722ENST00000402380FBLN1chr22

45914667

+ATXN10chr22

46134611

+
Frame-shiftENST00000327858ENST00000381061FBLN1chr22

45914667

+ATXN10chr22

46134611

+
Frame-shiftENST00000327858ENST00000252934FBLN1chr22

45914667

+ATXN10chr22

46134611

+
5CDS-intronENST00000327858ENST00000498009FBLN1chr22

45914667

+ATXN10chr22

46134611

+
5CDS-intronENST00000327858ENST00000402380FBLN1chr22

45914667

+ATXN10chr22

46134611

+
Frame-shiftENST00000442170ENST00000381061FBLN1chr22

45914667

+ATXN10chr22

46134611

+
Frame-shiftENST00000442170ENST00000252934FBLN1chr22

45914667

+ATXN10chr22

46134611

+
5CDS-intronENST00000442170ENST00000498009FBLN1chr22

45914667

+ATXN10chr22

46134611

+
5CDS-intronENST00000442170ENST00000402380FBLN1chr22

45914667

+ATXN10chr22

46134611

+
Frame-shiftENST00000340923ENST00000381061FBLN1chr22

45914667

+ATXN10chr22

46134611

+
Frame-shiftENST00000340923ENST00000252934FBLN1chr22

45914667

+ATXN10chr22

46134611

+
5CDS-intronENST00000340923ENST00000498009FBLN1chr22

45914667

+ATXN10chr22

46134611

+
5CDS-intronENST00000340923ENST00000402380FBLN1chr22

45914667

+ATXN10chr22

46134611

+
intron-3CDSENST00000476366ENST00000381061FBLN1chr22

45914667

+ATXN10chr22

46134611

+
intron-3CDSENST00000476366ENST00000252934FBLN1chr22

45914667

+ATXN10chr22

46134611

+
intron-intronENST00000476366ENST00000498009FBLN1chr22

45914667

+ATXN10chr22

46134611

+
intron-intronENST00000476366ENST00000402380FBLN1chr22

45914667

+ATXN10chr22

46134611

+
Frame-shiftENST00000348697ENST00000381061FBLN1chr22

45931217

+ATXN10chr22

46202839

+
Frame-shiftENST00000348697ENST00000252934FBLN1chr22

45931217

+ATXN10chr22

46202839

+
5CDS-intronENST00000348697ENST00000498009FBLN1chr22

45931217

+ATXN10chr22

46202839

+
5CDS-intronENST00000348697ENST00000402380FBLN1chr22

45931217

+ATXN10chr22

46202839

+
Frame-shiftENST00000402984ENST00000381061FBLN1chr22

45931217

+ATXN10chr22

46202839

+
Frame-shiftENST00000402984ENST00000252934FBLN1chr22

45931217

+ATXN10chr22

46202839

+
5CDS-intronENST00000402984ENST00000498009FBLN1chr22

45931217

+ATXN10chr22

46202839

+
5CDS-intronENST00000402984ENST00000402380FBLN1chr22

45931217

+ATXN10chr22

46202839

+
Frame-shiftENST00000262722ENST00000381061FBLN1chr22

45931217

+ATXN10chr22

46202839

+
Frame-shiftENST00000262722ENST00000252934FBLN1chr22

45931217

+ATXN10chr22

46202839

+
5CDS-intronENST00000262722ENST00000498009FBLN1chr22

45931217

+ATXN10chr22

46202839

+
5CDS-intronENST00000262722ENST00000402380FBLN1chr22

45931217

+ATXN10chr22

46202839

+
Frame-shiftENST00000327858ENST00000381061FBLN1chr22

45931217

+ATXN10chr22

46202839

+
Frame-shiftENST00000327858ENST00000252934FBLN1chr22

45931217

+ATXN10chr22

46202839

+
5CDS-intronENST00000327858ENST00000498009FBLN1chr22

45931217

+ATXN10chr22

46202839

+
5CDS-intronENST00000327858ENST00000402380FBLN1chr22

45931217

+ATXN10chr22

46202839

+
Frame-shiftENST00000442170ENST00000381061FBLN1chr22

45931217

+ATXN10chr22

46202839

+
Frame-shiftENST00000442170ENST00000252934FBLN1chr22

45931217

+ATXN10chr22

46202839

+
5CDS-intronENST00000442170ENST00000498009FBLN1chr22

45931217

+ATXN10chr22

46202839

+
5CDS-intronENST00000442170ENST00000402380FBLN1chr22

45931217

+ATXN10chr22

46202839

+
Frame-shiftENST00000340923ENST00000381061FBLN1chr22

45931217

+ATXN10chr22

46202839

+
Frame-shiftENST00000340923ENST00000252934FBLN1chr22

45931217

+ATXN10chr22

46202839

+
5CDS-intronENST00000340923ENST00000498009FBLN1chr22

45931217

+ATXN10chr22

46202839

+
5CDS-intronENST00000340923ENST00000402380FBLN1chr22

45931217

+ATXN10chr22

46202839

+
intron-3CDSENST00000476366ENST00000381061FBLN1chr22

45931217

+ATXN10chr22

46202839

+
intron-3CDSENST00000476366ENST00000252934FBLN1chr22

45931217

+ATXN10chr22

46202839

+
intron-intronENST00000476366ENST00000498009FBLN1chr22

45931217

+ATXN10chr22

46202839

+
intron-intronENST00000476366ENST00000402380FBLN1chr22

45931217

+ATXN10chr22

46202839

+

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 FBLN1-ATXN10


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)
FBLN1chr2245931217+ATXN10chr2246202838+8.33E-060.99999166
FBLN1chr2245914667+ATXN10chr2246134610+3.27E-081
FBLN1chr2245931217+ATXN10chr2246202838+8.33E-060.99999166
FBLN1chr2245914667+ATXN10chr2246134610+3.27E-081

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.

Top

Fusion Protein Features for FBLN1-ATXN10


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
FBLN1

P23142

ATXN10

Q9UBB4

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}.FUNCTION: Necessary for the survival of cerebellar neurons. Induces neuritogenesis by activating the Ras-MAP kinase pathway. May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis. {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 FBLN1-ATXN10


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 FBLN1-ATXN10


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 FBLN1-ATXN10


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 FBLN1-ATXN10


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFBLN1C1842422Synpolydactyly 23CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneFBLN1C0014175Endometriosis1CTD_human
HgeneFBLN1C0033578Prostatic Neoplasms1CTD_human
HgeneFBLN1C0269102Endometrioma1CTD_human
HgeneFBLN1C0376358Malignant neoplasm of prostate1CTD_human
TgeneATXN10C0687120Nephronophthisis1GENOMICS_ENGLAND
TgeneATXN10C1963674Spinocerebellar Ataxia 101CTD_human;GENOMICS_ENGLAND;ORPHANET