UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:ATXN10-FBLN1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: ATXN10-FBLN1
FusionPDB ID: 8370
FusionGDB2.0 ID: 8370
HgeneTgene
Gene symbol

ATXN10

FBLN1

Gene ID

25814

2192

Gene nameataxin 10fibulin 1
SynonymsE46L|HUMEEP|SCA10FBLN|FIBL1
Cytomap

22q13.31

22q13.31

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

Q9UBB4

P23142

Ensembl transtripts involved in fusion geneENST idsENST00000498009, ENST00000252934, 
ENST00000381061, ENST00000402380, 
ENST00000262722, ENST00000327858, 
ENST00000340923, ENST00000348697, 
ENST00000402984, ENST00000442170, 
ENST00000476366, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score16 X 12 X 11=211222 X 22 X 9=4356
# samples 1927
** MAII scorelog2(19/2112*10)=-3.47453851102751
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: ATXN10 [Title/Abstract] AND FBLN1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)ATXN10(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 CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ATXN10-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.
ATXN10-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.
ATXN10-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.
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
HgeneATXN10

GO:0031175

neuron projection development

16498633

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 ATXN10 (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


Top

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
ChimerDB4OVTCGA-13-0795-01AATXN10chr22

46085783

+FBLN1chr22

45996187

+
ChimerDB4OVTCGA-13-0795-01AATXN10chr22

46088958

-FBLN1chr22

45996187

+
ChimerDB4OVTCGA-13-0795-01AATXN10chr22

46088958

+FBLN1chr22

45996187

+
ChimerDB4UCECTCGA-AX-A1CC-01AATXN10chr22

46088958

+FBLN1chr22

45914562

+


Top

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)
ENST00000381061ATXN10chr2246088958+ENST00000348697FBLN1chr2245914562+31864652662497743
ENST00000381061ATXN10chr2246088958+ENST00000402984FBLN1chr2245914562+26384652662551761
ENST00000381061ATXN10chr2246088958+ENST00000262722FBLN1chr2245914562+25344652662437723
ENST00000381061ATXN10chr2246088958+ENST00000327858FBLN1chr2245914562+31874652662497743
ENST00000381061ATXN10chr2246088958+ENST00000442170FBLN1chr2245914562+29014652662191641
ENST00000381061ATXN10chr2246088958+ENST00000340923FBLN1chr2245914562+27244652662086606
ENST00000252934ATXN10chr2246088958+ENST00000348697FBLN1chr2245914562+33776562652688807
ENST00000252934ATXN10chr2246088958+ENST00000402984FBLN1chr2245914562+28296562652742825
ENST00000252934ATXN10chr2246088958+ENST00000262722FBLN1chr2245914562+27256562652628787
ENST00000252934ATXN10chr2246088958+ENST00000327858FBLN1chr2245914562+33786562652688807
ENST00000252934ATXN10chr2246088958+ENST00000442170FBLN1chr2245914562+30926562652382705
ENST00000252934ATXN10chr2246088958+ENST00000340923FBLN1chr2245914562+29156562652277670

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
ENST00000381061ENST00000348697ATXN10chr2246088958+FBLN1chr2245914562+0.0087511150.99124885
ENST00000381061ENST00000402984ATXN10chr2246088958+FBLN1chr2245914562+0.0129890940.98701096
ENST00000381061ENST00000262722ATXN10chr2246088958+FBLN1chr2245914562+0.0161543660.9838456
ENST00000381061ENST00000327858ATXN10chr2246088958+FBLN1chr2245914562+0.0090391130.9909609
ENST00000381061ENST00000442170ATXN10chr2246088958+FBLN1chr2245914562+0.0189763940.98102355
ENST00000381061ENST00000340923ATXN10chr2246088958+FBLN1chr2245914562+0.0186338570.98136616
ENST00000252934ENST00000348697ATXN10chr2246088958+FBLN1chr2245914562+0.0070492510.9929508
ENST00000252934ENST00000402984ATXN10chr2246088958+FBLN1chr2245914562+0.0078848540.9921151
ENST00000252934ENST00000262722ATXN10chr2246088958+FBLN1chr2245914562+0.0124144820.98758554
ENST00000252934ENST00000327858ATXN10chr2246088958+FBLN1chr2245914562+0.007330780.9926692
ENST00000252934ENST00000442170ATXN10chr2246088958+FBLN1chr2245914562+0.0161621220.98383784
ENST00000252934ENST00000340923ATXN10chr2246088958+FBLN1chr2245914562+0.0172118150.98278815

Top

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

>8370_8370_1_ATXN10-FBLN1_ATXN10_chr22_46088958_ENST00000252934_FBLN1_chr22_45914562_ENST00000262722_length(amino acids)=787AA_BP=129
MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRETAPRTIFQRVLDILKKSSHAVELACRDPSQVENLASSLQLITECFRCLRN
ACIECSVNQNSIRNLDTIGVAVDLILLFRELRVEQESLLTVDADVLLEACCADGHRMATHQKDCSLPYATESKECRMVQEQCCHSQLEEL
HCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEYSLMVGYQCGQVFQACCVKSQETGDLDVGGLQETDKIIE
VEEEQEDPYLNDRCRGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLGESCINTVGSFRCQRDSSCGTGYELTE
DNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCPIGHTCINTEGSYTCQKNVPNCGRGYH
LNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRLCGHKCENTLGSYLCSCSVGFRLSVDG
RSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCINIPGSFQCSCPSSGYRLAPNGRNCQDI
DECVTGIHNCSINETCFNIQGGFRCLAFECPENYRRSAATRCERLPCHENRECSKLPLRITYYHLSFPTNIQAPAVVFRMGPSSAVPGDS

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

>8370_8370_2_ATXN10-FBLN1_ATXN10_chr22_46088958_ENST00000252934_FBLN1_chr22_45914562_ENST00000327858_length(amino acids)=807AA_BP=129
MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRETAPRTIFQRVLDILKKSSHAVELACRDPSQVENLASSLQLITECFRCLRN
ACIECSVNQNSIRNLDTIGVAVDLILLFRELRVEQESLLTVDADVLLEACCADGHRMATHQKDCSLPYATESKECRMVQEQCCHSQLEEL
HCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEYSLMVGYQCGQVFQACCVKSQETGDLDVGGLQETDKIIE
VEEEQEDPYLNDRCRGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLGESCINTVGSFRCQRDSSCGTGYELTE
DNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCPIGHTCINTEGSYTCQKNVPNCGRGYH
LNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRLCGHKCENTLGSYLCSCSVGFRLSVDG
RSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCINIPGSFQCSCPSSGYRLAPNGRNCQDI
DECVTGIHNCSINETCFNIQGGFRCLAFECPENYRRSAATLQQEKTDTVRCIKSCRPNDVTCVFDPVHTISHTVISLPTFREFTRPEEII

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

>8370_8370_3_ATXN10-FBLN1_ATXN10_chr22_46088958_ENST00000252934_FBLN1_chr22_45914562_ENST00000340923_length(amino acids)=670AA_BP=129
MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRETAPRTIFQRVLDILKKSSHAVELACRDPSQVENLASSLQLITECFRCLRN
ACIECSVNQNSIRNLDTIGVAVDLILLFRELRVEQESLLTVDADVLLEACCADGHRMATHQKDCSLPYATESKECRMVQEQCCHSQLEEL
HCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEYSLMVGYQCGQVFQACCVKSQETGDLDVGGLQETDKIIE
VEEEQEDPYLNDRCRGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLGESCINTVGSFRCQRDSSCGTGYELTE
DNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCPIGHTCINTEGSYTCQKNVPNCGRGYH
LNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRLCGHKCENTLGSYLCSCSVGFRLSVDG
RSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCINIPGSFQCSCPSSGYRLAPNGRNCQDI

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

>8370_8370_4_ATXN10-FBLN1_ATXN10_chr22_46088958_ENST00000252934_FBLN1_chr22_45914562_ENST00000348697_length(amino acids)=807AA_BP=129
MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRETAPRTIFQRVLDILKKSSHAVELACRDPSQVENLASSLQLITECFRCLRN
ACIECSVNQNSIRNLDTIGVAVDLILLFRELRVEQESLLTVDADVLLEACCADGHRMATHQKDCSLPYATESKECRMVQEQCCHSQLEEL
HCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEYSLMVGYQCGQVFQACCVKSQETGDLDVGGLQETDKIIE
VEEEQEDPYLNDRCRGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLGESCINTVGSFRCQRDSSCGTGYELTE
DNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCPIGHTCINTEGSYTCQKNVPNCGRGYH
LNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRLCGHKCENTLGSYLCSCSVGFRLSVDG
RSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCINIPGSFQCSCPSSGYRLAPNGRNCQDI
DECVTGIHNCSINETCFNIQGGFRCLAFECPENYRRSAATQKSKKGRQNTPAGSSKEDCRVLPWKQGLEDTHLDAYLPCCRRFTRPEEII

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

>8370_8370_5_ATXN10-FBLN1_ATXN10_chr22_46088958_ENST00000252934_FBLN1_chr22_45914562_ENST00000402984_length(amino acids)=825AA_BP=129
MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRETAPRTIFQRVLDILKKSSHAVELACRDPSQVENLASSLQLITECFRCLRN
ACIECSVNQNSIRNLDTIGVAVDLILLFRELRVEQESLLTVDADVLLEACCADGHRMATHQKDCSLPYATESKECRAVGLASLCQDLNGA
WAVWKVGRASQAEGTASARAQRRGMVQEQCCHSQLEELHCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEY
SLMVGYQCGQVFQACCVKSQETGDLDVGGLQETDKIIEVEEEQEDPYLNDRCRGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVN
ECITGSHSCRLGESCINTVGSFRCQRDSSCGTGYELTEDNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQDALGNCID
INECLSISAPCPIGHTCINTEGSYTCQKNVPNCGRGYHLNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCV
DVNECQRYPGRLCGHKCENTLGSYLCSCSVGFRLSVDGRSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALP
TGGHICSYRCINIPGSFQCSCPSSGYRLAPNGRNCQDIDECVTGIHNCSINETCFNIQGGFRCLAFECPENYRRSAATRCERLPCHENRE
CSKLPLRITYYHLSFPTNIQAPAVVFRMGPSSAVPGDSMQLAITGGNEEGFFTTRKVSPHSGVVALTKPVPEPRDLLLTVKMDLSRHGTV

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

>8370_8370_6_ATXN10-FBLN1_ATXN10_chr22_46088958_ENST00000252934_FBLN1_chr22_45914562_ENST00000442170_length(amino acids)=705AA_BP=129
MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRETAPRTIFQRVLDILKKSSHAVELACRDPSQVENLASSLQLITECFRCLRN
ACIECSVNQNSIRNLDTIGVAVDLILLFRELRVEQESLLTVDADVLLEACCADGHRMATHQKDCSLPYATESKECRMVQEQCCHSQLEEL
HCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEYSLMVGYQCGQVFQACCVKSQETGDLDVGGLQETDKIIE
VEEEQEDPYLNDRCRGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLGESCINTVGSFRCQRDSSCGTGYELTE
DNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCPIGHTCINTEGSYTCQKNVPNCGRGYH
LNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRLCGHKCENTLGSYLCSCSVGFRLSVDG
RSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCINIPGSFQCSCPSSGYRLAPNGRNCQDI

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

>8370_8370_7_ATXN10-FBLN1_ATXN10_chr22_46088958_ENST00000381061_FBLN1_chr22_45914562_ENST00000262722_length(amino acids)=723AA_BP=65
MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRNLDTIGVAVDLILLFRELRVEQESLLTVDADVLLEACCADGHRMATHQKDC
SLPYATESKECRMVQEQCCHSQLEELHCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEYSLMVGYQCGQVF
QACCVKSQETGDLDVGGLQETDKIIEVEEEQEDPYLNDRCRGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLG
ESCINTVGSFRCQRDSSCGTGYELTEDNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCP
IGHTCINTEGSYTCQKNVPNCGRGYHLNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRL
CGHKCENTLGSYLCSCSVGFRLSVDGRSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCIN
IPGSFQCSCPSSGYRLAPNGRNCQDIDECVTGIHNCSINETCFNIQGGFRCLAFECPENYRRSAATRCERLPCHENRECSKLPLRITYYH
LSFPTNIQAPAVVFRMGPSSAVPGDSMQLAITGGNEEGFFTTRKVSPHSGVVALTKPVPEPRDLLLTVKMDLSRHGTVSSFVAKLFIFVS

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

>8370_8370_8_ATXN10-FBLN1_ATXN10_chr22_46088958_ENST00000381061_FBLN1_chr22_45914562_ENST00000327858_length(amino acids)=743AA_BP=65
MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRNLDTIGVAVDLILLFRELRVEQESLLTVDADVLLEACCADGHRMATHQKDC
SLPYATESKECRMVQEQCCHSQLEELHCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEYSLMVGYQCGQVF
QACCVKSQETGDLDVGGLQETDKIIEVEEEQEDPYLNDRCRGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLG
ESCINTVGSFRCQRDSSCGTGYELTEDNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCP
IGHTCINTEGSYTCQKNVPNCGRGYHLNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRL
CGHKCENTLGSYLCSCSVGFRLSVDGRSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCIN
IPGSFQCSCPSSGYRLAPNGRNCQDIDECVTGIHNCSINETCFNIQGGFRCLAFECPENYRRSAATLQQEKTDTVRCIKSCRPNDVTCVF
DPVHTISHTVISLPTFREFTRPEEIIFLRAITPPHPASQANIIFDITEGNLRDSFDIIKRYMDGMTVGVVRQVRPIVGPFHAVLKLEMNY

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

>8370_8370_9_ATXN10-FBLN1_ATXN10_chr22_46088958_ENST00000381061_FBLN1_chr22_45914562_ENST00000340923_length(amino acids)=606AA_BP=65
MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRNLDTIGVAVDLILLFRELRVEQESLLTVDADVLLEACCADGHRMATHQKDC
SLPYATESKECRMVQEQCCHSQLEELHCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEYSLMVGYQCGQVF
QACCVKSQETGDLDVGGLQETDKIIEVEEEQEDPYLNDRCRGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLG
ESCINTVGSFRCQRDSSCGTGYELTEDNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCP
IGHTCINTEGSYTCQKNVPNCGRGYHLNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRL
CGHKCENTLGSYLCSCSVGFRLSVDGRSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCIN

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

>8370_8370_10_ATXN10-FBLN1_ATXN10_chr22_46088958_ENST00000381061_FBLN1_chr22_45914562_ENST00000348697_length(amino acids)=743AA_BP=65
MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRNLDTIGVAVDLILLFRELRVEQESLLTVDADVLLEACCADGHRMATHQKDC
SLPYATESKECRMVQEQCCHSQLEELHCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEYSLMVGYQCGQVF
QACCVKSQETGDLDVGGLQETDKIIEVEEEQEDPYLNDRCRGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLG
ESCINTVGSFRCQRDSSCGTGYELTEDNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCP
IGHTCINTEGSYTCQKNVPNCGRGYHLNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRL
CGHKCENTLGSYLCSCSVGFRLSVDGRSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCIN
IPGSFQCSCPSSGYRLAPNGRNCQDIDECVTGIHNCSINETCFNIQGGFRCLAFECPENYRRSAATQKSKKGRQNTPAGSSKEDCRVLPW
KQGLEDTHLDAYLPCCRRFTRPEEIIFLRAITPPHPASQANIIFDITEGNLRDSFDIIKRYMDGMTVGVVRQVRPIVGPFHAVLKLEMNY

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

>8370_8370_11_ATXN10-FBLN1_ATXN10_chr22_46088958_ENST00000381061_FBLN1_chr22_45914562_ENST00000402984_length(amino acids)=761AA_BP=65
MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRNLDTIGVAVDLILLFRELRVEQESLLTVDADVLLEACCADGHRMATHQKDC
SLPYATESKECRAVGLASLCQDLNGAWAVWKVGRASQAEGTASARAQRRGMVQEQCCHSQLEELHCATGISLANEQDRCATPHGDNASLE
ATFVKRCCHCCLLGRAAQAQGQSCEYSLMVGYQCGQVFQACCVKSQETGDLDVGGLQETDKIIEVEEEQEDPYLNDRCRGGGPCKQQCRD
TGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLGESCINTVGSFRCQRDSSCGTGYELTEDNSCKDIDECESGIHNCLPDFICQNT
LGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCPIGHTCINTEGSYTCQKNVPNCGRGYHLNEEGTRCVDVDECAPPAEPCGKGHR
CVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRLCGHKCENTLGSYLCSCSVGFRLSVDGRSCEDINECSSSPCSQECANVYGSYQ
CYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCINIPGSFQCSCPSSGYRLAPNGRNCQDIDECVTGIHNCSINETCFNIQGGFRCL
AFECPENYRRSAATRCERLPCHENRECSKLPLRITYYHLSFPTNIQAPAVVFRMGPSSAVPGDSMQLAITGGNEEGFFTTRKVSPHSGVV

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

>8370_8370_12_ATXN10-FBLN1_ATXN10_chr22_46088958_ENST00000381061_FBLN1_chr22_45914562_ENST00000442170_length(amino acids)=641AA_BP=65
MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRNLDTIGVAVDLILLFRELRVEQESLLTVDADVLLEACCADGHRMATHQKDC
SLPYATESKECRMVQEQCCHSQLEELHCATGISLANEQDRCATPHGDNASLEATFVKRCCHCCLLGRAAQAQGQSCEYSLMVGYQCGQVF
QACCVKSQETGDLDVGGLQETDKIIEVEEEQEDPYLNDRCRGGGPCKQQCRDTGDEVVCSCFVGYQLLSDGVSCEDVNECITGSHSCRLG
ESCINTVGSFRCQRDSSCGTGYELTEDNSCKDIDECESGIHNCLPDFICQNTLGSFRCRPKLQCKSGFIQDALGNCIDINECLSISAPCP
IGHTCINTEGSYTCQKNVPNCGRGYHLNEEGTRCVDVDECAPPAEPCGKGHRCVNSPGSFRCECKTGYYFDGISRMCVDVNECQRYPGRL
CGHKCENTLGSYLCSCSVGFRLSVDGRSCEDINECSSSPCSQECANVYGSYQCYCRRGYQLSDVDGVTCEDIDECALPTGGHICSYRCIN
IPGSFQCSCPSSGYRLAPNGRNCQDIDECVTGIHNCSINETCFNIQGGFRCLAFECPENYRRSAATQKSKKGRQNTPAGSSKEDCRVLPW

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

Top

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/chr22:46088958/chr22:45996187)
- 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
ATXN10

Q9UBB4

FBLN1

P23142

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}.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
TgeneFBLN1chr22:46085783chr22:45996187ENST00000262722015112_1440684.0DomainAnaphylatoxin-like 3
TgeneFBLN1chr22:46085783chr22:45996187ENST00000262722015176_2150684.0DomainEGF-like 1
TgeneFBLN1chr22:46085783chr22:45996187ENST00000262722015216_2610684.0DomainEGF-like 2%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST00000262722015262_3070684.0DomainEGF-like 3%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST00000262722015308_3550684.0DomainEGF-like 4%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST00000262722015356_3980684.0DomainEGF-like 5%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST0000026272201536_760684.0DomainAnaphylatoxin-like 1
TgeneFBLN1chr22:46085783chr22:45996187ENST00000262722015399_4400684.0DomainEGF-like 6%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST00000262722015441_4800684.0DomainEGF-like 7%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST00000262722015481_5240684.0DomainEGF-like 8%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST00000262722015525_5780684.0DomainEGF-like 9%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST0000026272201577_1110684.0DomainAnaphylatoxin-like 2
TgeneFBLN1chr22:46085783chr22:45996187ENST00000340923015112_1440567.0DomainAnaphylatoxin-like 3
TgeneFBLN1chr22:46085783chr22:45996187ENST00000340923015176_2150567.0DomainEGF-like 1
TgeneFBLN1chr22:46085783chr22:45996187ENST00000340923015216_2610567.0DomainEGF-like 2%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST00000340923015262_3070567.0DomainEGF-like 3%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST00000340923015308_3550567.0DomainEGF-like 4%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST00000340923015356_3980567.0DomainEGF-like 5%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST0000034092301536_760567.0DomainAnaphylatoxin-like 1
TgeneFBLN1chr22:46085783chr22:45996187ENST00000340923015399_4400567.0DomainEGF-like 6%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST00000340923015441_4800567.0DomainEGF-like 7%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST00000340923015481_5240567.0DomainEGF-like 8%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST00000340923015525_5780567.0DomainEGF-like 9%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST0000034092301577_1110567.0DomainAnaphylatoxin-like 2
TgeneFBLN1chr22:46088958chr22:45914562ENST00000262722015112_14426.333333333333332684.0DomainAnaphylatoxin-like 3
TgeneFBLN1chr22:46088958chr22:45914562ENST00000262722015176_21526.333333333333332684.0DomainEGF-like 1
TgeneFBLN1chr22:46088958chr22:45914562ENST00000262722015216_26126.333333333333332684.0DomainEGF-like 2%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000262722015262_30726.333333333333332684.0DomainEGF-like 3%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000262722015308_35526.333333333333332684.0DomainEGF-like 4%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000262722015356_39826.333333333333332684.0DomainEGF-like 5%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST0000026272201536_7626.333333333333332684.0DomainAnaphylatoxin-like 1
TgeneFBLN1chr22:46088958chr22:45914562ENST00000262722015399_44026.333333333333332684.0DomainEGF-like 6%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000262722015441_48026.333333333333332684.0DomainEGF-like 7%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000262722015481_52426.333333333333332684.0DomainEGF-like 8%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000262722015525_57826.333333333333332684.0DomainEGF-like 9%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST0000026272201577_11126.333333333333332684.0DomainAnaphylatoxin-like 2
TgeneFBLN1chr22:46088958chr22:45914562ENST00000327858017112_14426.333333333333332704.0DomainAnaphylatoxin-like 3
TgeneFBLN1chr22:46088958chr22:45914562ENST00000327858017176_21526.333333333333332704.0DomainEGF-like 1
TgeneFBLN1chr22:46088958chr22:45914562ENST00000327858017216_26126.333333333333332704.0DomainEGF-like 2%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000327858017262_30726.333333333333332704.0DomainEGF-like 3%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000327858017308_35526.333333333333332704.0DomainEGF-like 4%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000327858017356_39826.333333333333332704.0DomainEGF-like 5%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST0000032785801736_7626.333333333333332704.0DomainAnaphylatoxin-like 1
TgeneFBLN1chr22:46088958chr22:45914562ENST00000327858017399_44026.333333333333332704.0DomainEGF-like 6%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000327858017441_48026.333333333333332704.0DomainEGF-like 7%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000327858017481_52426.333333333333332704.0DomainEGF-like 8%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000327858017525_57826.333333333333332704.0DomainEGF-like 9%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST0000032785801777_11126.333333333333332704.0DomainAnaphylatoxin-like 2
TgeneFBLN1chr22:46088958chr22:45914562ENST00000340923015112_14426.333333333333332567.0DomainAnaphylatoxin-like 3
TgeneFBLN1chr22:46088958chr22:45914562ENST00000340923015176_21526.333333333333332567.0DomainEGF-like 1
TgeneFBLN1chr22:46088958chr22:45914562ENST00000340923015216_26126.333333333333332567.0DomainEGF-like 2%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000340923015262_30726.333333333333332567.0DomainEGF-like 3%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000340923015308_35526.333333333333332567.0DomainEGF-like 4%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000340923015356_39826.333333333333332567.0DomainEGF-like 5%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST0000034092301536_7626.333333333333332567.0DomainAnaphylatoxin-like 1
TgeneFBLN1chr22:46088958chr22:45914562ENST00000340923015399_44026.333333333333332567.0DomainEGF-like 6%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000340923015441_48026.333333333333332567.0DomainEGF-like 7%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000340923015481_52426.333333333333332567.0DomainEGF-like 8%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000340923015525_57826.333333333333332567.0DomainEGF-like 9%3B calcium-binding
TgeneFBLN1chr22:46088958chr22:45914562ENST0000034092301577_11126.333333333333332567.0DomainAnaphylatoxin-like 2
TgeneFBLN1chr22:46085783chr22:45996187ENST00000262722015356_4400684.0RegionNote=Self-association and FN1-binding%3B calcium is necessary for homotypic binding%2C but not for heterotypic binding
TgeneFBLN1chr22:46085783chr22:45996187ENST00000340923015356_4400567.0RegionNote=Self-association and FN1-binding%3B calcium is necessary for homotypic binding%2C but not for heterotypic binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000262722015356_44026.333333333333332684.0RegionNote=Self-association and FN1-binding%3B calcium is necessary for homotypic binding%2C but not for heterotypic binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000327858017356_44026.333333333333332704.0RegionNote=Self-association and FN1-binding%3B calcium is necessary for homotypic binding%2C but not for heterotypic binding
TgeneFBLN1chr22:46088958chr22:45914562ENST00000340923015356_44026.333333333333332567.0RegionNote=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
TgeneFBLN1chr22:46085783chr22:45996187ENST000003278581517112_144657.3333333333334704.0DomainAnaphylatoxin-like 3
TgeneFBLN1chr22:46085783chr22:45996187ENST000003278581517176_215657.3333333333334704.0DomainEGF-like 1
TgeneFBLN1chr22:46085783chr22:45996187ENST000003278581517216_261657.3333333333334704.0DomainEGF-like 2%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST000003278581517262_307657.3333333333334704.0DomainEGF-like 3%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST000003278581517308_355657.3333333333334704.0DomainEGF-like 4%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST000003278581517356_398657.3333333333334704.0DomainEGF-like 5%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST00000327858151736_76657.3333333333334704.0DomainAnaphylatoxin-like 1
TgeneFBLN1chr22:46085783chr22:45996187ENST000003278581517399_440657.3333333333334704.0DomainEGF-like 6%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST000003278581517441_480657.3333333333334704.0DomainEGF-like 7%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST000003278581517481_524657.3333333333334704.0DomainEGF-like 8%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST000003278581517525_578657.3333333333334704.0DomainEGF-like 9%3B calcium-binding
TgeneFBLN1chr22:46085783chr22:45996187ENST00000327858151777_111657.3333333333334704.0DomainAnaphylatoxin-like 2
TgeneFBLN1chr22:46085783chr22:45996187ENST000003278581517356_440657.3333333333334704.0RegionNote=Self-association and FN1-binding%3B calcium is necessary for homotypic binding%2C but not for heterotypic binding


Top

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
ATXN10
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


Top

Related Drugs to ATXN10-FBLN1


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

Top

Related Diseases to ATXN10-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