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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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Fusion gene ID: 13036

FusionGeneSummary for FBN1_TEX9

check button Fusion gene summary
Fusion gene informationFusion gene name: FBN1_TEX9
Fusion gene ID: 13036
HgeneTgene
Gene symbol

FBN1

TEX9

Gene ID

2200

374618

Gene namefibrillin 1testis expressed 9
SynonymsACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2-
Cytomap

15q21.1

15q21.3

Type of geneprotein-codingprotein-coding
Descriptionfibrillin-1asprosinfibrillin 15fibrillin-1 preproproteintestis-expressed protein 9testis-expressed sequence 9 protein
Modification date2018052320180519
UniProtAcc

P35555

Q8N6V9

Ensembl transtripts involved in fusion geneENST00000316623, ENST00000561429, 
ENST00000560355, 
ENST00000352903, 
ENST00000537232, ENST00000561221, 
ENST00000558083, ENST00000559142, 
ENST00000560582, 
Fusion gene scores* DoF score8 X 8 X 4=2564 X 5 X 3=60
# samples 84
** MAII scorelog2(8/256*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/60*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FBN1 [Title/Abstract] AND TEX9 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneFBN1

GO:0033627

cell adhesion mediated by integrin

12807887|17158881

HgeneFBN1

GO:0045671

negative regulation of osteoclast differentiation

24039232

HgeneFBN1

GO:2001205

negative regulation of osteoclast development

24039232


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVMESOTCGA-TS-A8AF-01AFBN1chr15

48905207

-TEX9chr15

56686363

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
In-frameENST00000316623ENST00000352903FBN1chr15

48905207

-TEX9chr15

56686363

+
In-frameENST00000316623ENST00000537232FBN1chr15

48905207

-TEX9chr15

56686363

+
In-frameENST00000316623ENST00000561221FBN1chr15

48905207

-TEX9chr15

56686363

+
In-frameENST00000316623ENST00000558083FBN1chr15

48905207

-TEX9chr15

56686363

+
5CDS-intronENST00000316623ENST00000559142FBN1chr15

48905207

-TEX9chr15

56686363

+
5CDS-intronENST00000316623ENST00000560582FBN1chr15

48905207

-TEX9chr15

56686363

+
intron-3CDSENST00000561429ENST00000352903FBN1chr15

48905207

-TEX9chr15

56686363

+
intron-3CDSENST00000561429ENST00000537232FBN1chr15

48905207

-TEX9chr15

56686363

+
intron-3CDSENST00000561429ENST00000561221FBN1chr15

48905207

-TEX9chr15

56686363

+
intron-3CDSENST00000561429ENST00000558083FBN1chr15

48905207

-TEX9chr15

56686363

+
intron-intronENST00000561429ENST00000559142FBN1chr15

48905207

-TEX9chr15

56686363

+
intron-intronENST00000561429ENST00000560582FBN1chr15

48905207

-TEX9chr15

56686363

+
intron-3CDSENST00000560355ENST00000352903FBN1chr15

48905207

-TEX9chr15

56686363

+
intron-3CDSENST00000560355ENST00000537232FBN1chr15

48905207

-TEX9chr15

56686363

+
intron-3CDSENST00000560355ENST00000561221FBN1chr15

48905207

-TEX9chr15

56686363

+
intron-3CDSENST00000560355ENST00000558083FBN1chr15

48905207

-TEX9chr15

56686363

+
intron-intronENST00000560355ENST00000559142FBN1chr15

48905207

-TEX9chr15

56686363

+
intron-intronENST00000560355ENST00000560582FBN1chr15

48905207

-TEX9chr15

56686363

+

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FusionProtFeatures for FBN1_TEX9


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FBN1

P35555

TEX9

Q8N6V9

Fibrillin-1: Structural component of the 10-12 nmdiameter microfibrils of the extracellular matrix, which conveysboth structural and regulatory properties to load-bearingconnective tissues (PubMed:1860873, PubMed:15062093). Fibrillin-1-containing microfibrils provide long-term force bearing structuralsupport. In tissues such as the lung, blood vessels and skin,microfibrils form the periphery of the elastic fiber, acting as ascaffold for the deposition of elastin. In addition, microfibrilscan occur as elastin-independent networks in tissues such as theciliary zonule, tendon, cornea and glomerulus where they providetensile strength and have anchoring roles. Fibrillin-1 also playsa key role in tissue homeostasis through specific interactionswith growth factors, such as the bone morphogenetic proteins(BMPs), growth and differentiation factors (GDFs) and latenttransforming growth factor-beta-binding proteins (LTBPs), cell-surface integrins and other extracellular matrix protein andproteoglycan components (PubMed:27026396). Regulates osteoblastmaturation by controlling TGF-beta bioavailability and calibratingTGF-beta and BMP levels, respectively (By similarity). Negativelyregulates osteoclastogenesis by binding and sequestering anosteoclast differentiation and activation factor TNFSF11. Thisleads to disruption of TNFSF11-induced Ca(2+) signaling andimpairment of TNFSF11-mediated nuclear translocation andactivation of transcription factor NFATC1 which regulates genesimportant for osteoclast differentiation and function(PubMed:24039232). Mediates cell adhesion via its binding to cellsurface receptors integrins ITGAV:ITGB3 and ITGA5:ITGB1(PubMed:12807887, PubMed:17158881). Binds heparin and thisinteraction has an important role in the assembly of microfibrils(PubMed:11461921). {ECO:0000250|UniProtKB:Q61554,ECO:0000269|PubMed:11461921, ECO:0000269|PubMed:12807887,ECO:0000269|PubMed:15062093, ECO:0000269|PubMed:17158881,ECO:0000269|PubMed:1860873, ECO:0000269|PubMed:24039232,ECO:0000303|PubMed:27026396}. Asprosin: Hormone that targets the liver to increaseplasma glucose levels. Secreted by white adipose tissue andcirculates in the plasma. Acts in response to fasting and promotesblood glucose elevation by binding to the surface of hepatocytes.Promotes hepatocyte glucose release by activating the proteinkinase A activity in the liver, resulting in rapid glucose releaseinto the circulation. {ECO:0000269|PubMed:27087445}.

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
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-36645_81822872RegionFibrillin unique N-terminal (FUN) domain
TgeneTEX9chr15:48905207chr15:56686363ENST00000352903+613188_351190443Coiled coilOntology_term=ECO:0000255

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366402_446822872Compositional biasNote=Pro-rich
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661028_1069822872DomainEGF-like 15%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661070_1112822872DomainEGF-like 16%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661113_1154822872DomainEGF-like 17%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661155_1196822872DomainEGF-like 18%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366115_146822872DomainEGF-like 2
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661197_1237822872DomainEGF-like 19%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661238_1279822872DomainEGF-like 20%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661280_1321822872DomainEGF-like 21%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661322_1362822872DomainEGF-like 22%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661363_1403822872DomainEGF-like 23%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661404_1445822872DomainEGF-like 24%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661446_1486822872DomainEGF-like 25%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366147_178822872DomainEGF-like 3
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661487_1527822872DomainEGF-like 26%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661532_1589822872DomainNote=TB 6
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661606_1647822872DomainEGF-like 27%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661648_1688822872DomainEGF-like 28%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661693_1748822872DomainNote=TB 7
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661766_1807822872DomainEGF-like 29%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661808_1848822872DomainEGF-like 30%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661849_1890822872DomainEGF-like 31%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366184_236822872DomainNote=TB 1
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661891_1929822872DomainEGF-like 32%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661930_1972822872DomainEGF-like 33%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661973_2012822872DomainEGF-like 34%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3662013_2054822872DomainEGF-like 35%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3662059_2111822872DomainNote=TB 8
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3662127_2165822872DomainEGF-like 36%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3662166_2205822872DomainEGF-like 37%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3662206_2246822872DomainEGF-like 38%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3662247_2290822872DomainEGF-like 39%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3662291_2332822872DomainEGF-like 40%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3662337_2390822872DomainNote=TB 9
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3662402_2443822872DomainEGF-like 41%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3662444_2484822872DomainEGF-like 42%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366246_287822872DomainEGF-like 4%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3662485_2523822872DomainEGF-like 43%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3662524_2566822872DomainEGF-like 44%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3662567_2606822872DomainEGF-like 45%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3662607_2647822872DomainEGF-like 46%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3662648_2687822872DomainEGF-like 47%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366288_329822872DomainEGF-like 5%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366334_389822872DomainNote=TB 2
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366449_489822872DomainEGF-like 6
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366490_529822872DomainEGF-like 7%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366530_571822872DomainEGF-like 8%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366572_612822872DomainEGF-like 9%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366613_653822872DomainEGF-like 10%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366659_711822872DomainNote=TB 3
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366723_764822872DomainEGF-like 11%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366765_806822872DomainEGF-like 12%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366807_846822872DomainEGF-like 13%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-36681_112822872DomainEGF-like 1
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366851_902822872DomainNote=TB 4
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366910_951822872DomainEGF-like 14%3B calcium-binding
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366956_1008822872DomainNote=TB 5
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661541_1543822872MotifCell attachment site
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-3661528_2731822872RegionC-terminal domain
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366195_221822872RegionHybrid domain 1
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-36645_450822872RegionN-terminal domain


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FusionGeneSequence for FBN1_TEX9


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_FBN1_ENST00000316623_chr15_48905207_-_TEX9_ENST00000352903_chr15_56686363_+_284aa
MRRGRLLEIALGFTVLLASYTSHGADANLEAGNVKETRASRAKRRGGGGHDALKGPNVCGSRYNAYCCPGWKTLPGGNQCIVQAQIRFLK
AKLHVMQEELDNVVCECNKKEDEIQNLKSQVKNFEEDFMRQQRTINMQQSQVEKYKTLFEEANKKYDGLQQQLSSVERELENKRRLQKQA
ASSQSATEVRLNRALEEAEKYKLELSKLRQNNKDIANEEHKKIEVLKSENKKLEKQKGELMIGFKKQLKLIDVLKRQKMHIEAAKMLSFT

>In-frame_FBN1_ENST00000316623_chr15_48905207_-_TEX9_ENST00000537232_chr15_56686363_+_284aa
MRRGRLLEIALGFTVLLASYTSHGADANLEAGNVKETRASRAKRRGGGGHDALKGPNVCGSRYNAYCCPGWKTLPGGNQCIVQAQIRFLK
AKLHVMQEELDNVVCECNKKEDEIQNLKSQVKNFEEDFMRQQRTINMQQSQVEKYKTLFEEANKKYDGLQQQLSSVERELENKRRLQKQA
ASSQSATEVRLNRALEEAEKYKLELSKLRQNNKDIANEEHKKIEVLKSENKKLEKQKGELMIGFKKQLKLIDVLKRQKMHIEAAKMLSFT

>In-frame_FBN1_ENST00000316623_chr15_48905207_-_TEX9_ENST00000561221_chr15_56686363_+_176aa
MRRGRLLEIALGFTVLLASYTSHGADANLEAGNVKETRASRAKRRGGGGHDALKGPNVCGSRYNAYCCPGWKTLPGGNQCIVQAQIRFLK

>In-frame_FBN1_ENST00000316623_chr15_48905207_-_TEX9_ENST00000558083_chr15_56686363_+_176aa
MRRGRLLEIALGFTVLLASYTSHGADANLEAGNVKETRASRAKRRGGGGHDALKGPNVCGSRYNAYCCPGWKTLPGGNQCIVQAQIRFLK


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_FBN1_ENST00000316623_chr15_48905207_-_TEX9_ENST00000352903_chr15_56686363_+_852nt
ATGCGTCGAGGGCGTCTGCTGGAGATCGCCCTGGGATTTACCGTGCTTTTAGCGTCCTACACGAGCCATGGGGCGGACGCCAATTTGGAG
GCTGGGAACGTGAAGGAAACCAGAGCCAGTCGGGCCAAGAGAAGAGGCGGTGGAGGACACGACGCGCTTAAAGGACCCAATGTCTGTGGA
TCACGTTATAATGCTTACTGTTGCCCTGGATGGAAAACCTTACCTGGCGGAAATCAGTGTATTGTCCAAGCACAGATCAGATTTCTAAAG
GCCAAACTCCATGTTATGCAGGAGGAATTGGATAATGTTGTATGTGAATGCAATAAAAAGGAGGATGAAATTCAGAATTTAAAGTCTCAA
GTAAAAAATTTTGAAGAAGATTTTATGAGACAGCAGCGAACAATTAATATGCAACAGTCTCAAGTAGAAAAATACAAAACTCTTTTCGAA
GAAGCAAACAAAAAGTATGATGGATTACAGCAACAGTTGTCTTCAGTAGAAAGGGAATTAGAAAATAAAAGAAGACTGCAAAAACAGGCT
GCAAGTAGTCAAAGTGCCACAGAGGTTCGCTTGAATAGAGCTCTAGAAGAAGCAGAAAAGTATAAACTGGAGTTAAGTAAATTAAGGCAA
AATAACAAGGACATAGCAAATGAAGAACACAAAAAAATTGAAGTGTTAAAATCAGAAAACAAGAAGCTAGAAAAACAAAAAGGAGAATTA
ATGATAGGGTTCAAGAAACAGTTAAAATTAATTGATGTTTTAAAAAGGCAAAAGATGCATATTGAAGCTGCCAAGATGCTATCTTTCACT

>In-frame_FBN1_ENST00000316623_chr15_48905207_-_TEX9_ENST00000537232_chr15_56686363_+_852nt
ATGCGTCGAGGGCGTCTGCTGGAGATCGCCCTGGGATTTACCGTGCTTTTAGCGTCCTACACGAGCCATGGGGCGGACGCCAATTTGGAG
GCTGGGAACGTGAAGGAAACCAGAGCCAGTCGGGCCAAGAGAAGAGGCGGTGGAGGACACGACGCGCTTAAAGGACCCAATGTCTGTGGA
TCACGTTATAATGCTTACTGTTGCCCTGGATGGAAAACCTTACCTGGCGGAAATCAGTGTATTGTCCAAGCACAGATCAGATTTCTAAAG
GCCAAACTCCATGTTATGCAGGAGGAATTGGATAATGTTGTATGTGAATGCAATAAAAAGGAGGATGAAATTCAGAATTTAAAGTCTCAA
GTAAAAAATTTTGAAGAAGATTTTATGAGACAGCAGCGAACAATTAATATGCAACAGTCTCAAGTAGAAAAATACAAAACTCTTTTCGAA
GAAGCAAACAAAAAGTATGATGGATTACAGCAACAGTTGTCTTCAGTAGAAAGGGAATTAGAAAATAAAAGAAGACTGCAAAAACAGGCT
GCAAGTAGTCAAAGTGCCACAGAGGTTCGCTTGAATAGAGCTCTAGAAGAAGCAGAAAAGTATAAACTGGAGTTAAGTAAATTAAGGCAA
AATAACAAGGACATAGCAAATGAAGAACACAAAAAAATTGAAGTGTTAAAATCAGAAAACAAGAAGCTAGAAAAACAAAAAGGAGAATTA
ATGATAGGGTTCAAGAAACAGTTAAAATTAATTGATGTTTTAAAAAGGCAAAAGATGCATATTGAAGCTGCCAAGATGCTATCTTTCACT

>In-frame_FBN1_ENST00000316623_chr15_48905207_-_TEX9_ENST00000561221_chr15_56686363_+_528nt
ATGCGTCGAGGGCGTCTGCTGGAGATCGCCCTGGGATTTACCGTGCTTTTAGCGTCCTACACGAGCCATGGGGCGGACGCCAATTTGGAG
GCTGGGAACGTGAAGGAAACCAGAGCCAGTCGGGCCAAGAGAAGAGGCGGTGGAGGACACGACGCGCTTAAAGGACCCAATGTCTGTGGA
TCACGTTATAATGCTTACTGTTGCCCTGGATGGAAAACCTTACCTGGCGGAAATCAGTGTATTGTCCAAGCACAGATCAGATTTCTAAAG
GCCAAACTCCATGTTATGCAGGAGGAATTGGATAATGTTGTATGTGAATGCAATAAAAAGGAGGATGAAATTCAGAATTTAAAGTCTCAA
GTAAAAAATTTTGAAGAAGATTTTATGAGACAGCAGCGAACAATTAATATGCAACAGTCTCAAGTAGAAAAATACAAAACTCTTTTCGAA

>In-frame_FBN1_ENST00000316623_chr15_48905207_-_TEX9_ENST00000558083_chr15_56686363_+_528nt
ATGCGTCGAGGGCGTCTGCTGGAGATCGCCCTGGGATTTACCGTGCTTTTAGCGTCCTACACGAGCCATGGGGCGGACGCCAATTTGGAG
GCTGGGAACGTGAAGGAAACCAGAGCCAGTCGGGCCAAGAGAAGAGGCGGTGGAGGACACGACGCGCTTAAAGGACCCAATGTCTGTGGA
TCACGTTATAATGCTTACTGTTGCCCTGGATGGAAAACCTTACCTGGCGGAAATCAGTGTATTGTCCAAGCACAGATCAGATTTCTAAAG
GCCAAACTCCATGTTATGCAGGAGGAATTGGATAATGTTGTATGTGAATGCAATAAAAAGGAGGATGAAATTCAGAATTTAAAGTCTCAA
GTAAAAAATTTTGAAGAAGATTTTATGAGACAGCAGCGAACAATTAATATGCAACAGTCTCAAGTAGAAAAATACAAAACTCTTTTCGAA


* Fusion transcript sequences (Full-length transcript).
>In-frame_FBN1_ENST00000316623_chr15_48905207_-_TEX9_ENST00000352903_chr15_56686363_+_1541nt
GTGGTGATGAGGGCGACGAAGGAGGGGGTGTCATTTTCTTTTTCTTTCTTTTTTTAAAAAAAGTATTTCTCTCGCGAGAAACCGCTGCGC
GGACGATACTTGAAGAGGTGGGGAAAGGAGGGGGCTGCGGGAGCCGCGGCAGAGACTGTGGGTGCCACAAGCGGACAGGAGCCACAGCTG
GGACAGCTGCGAGCGGAGCCGAGCAGTGGCTGTAGCGGCCACGACTGGGAGCAGCCGCCGCCGCCTCCTCGGGAGTCGGAGCCGCCGCTT
CTCCACTGGCAGGGGCCGCCTGAAGTGGGAGCAGCGCCTGGAGAAGGCGGGAGGAGCCCGGCCCGGGGGACGGGCGGCGGGATAGCGGGA
CCCCGGCGGCGCGGTGCGCTTCAGGGCGCAGCGGCGGCCGCAGACCGAGCCCCGGGCGCGGCAAGAGGCGGCGGGAGCCGGTGGCGGCTC
GGCATCATGCGTCGAGGGCGTCTGCTGGAGATCGCCCTGGGATTTACCGTGCTTTTAGCGTCCTACACGAGCCATGGGGCGGACGCCAAT
TTGGAGGCTGGGAACGTGAAGGAAACCAGAGCCAGTCGGGCCAAGAGAAGAGGCGGTGGAGGACACGACGCGCTTAAAGGACCCAATGTC
TGTGGATCACGTTATAATGCTTACTGTTGCCCTGGATGGAAAACCTTACCTGGCGGAAATCAGTGTATTGTCCAAGCACAGATCAGATTT
CTAAAGGCCAAACTCCATGTTATGCAGGAGGAATTGGATAATGTTGTATGTGAATGCAATAAAAAGGAGGATGAAATTCAGAATTTAAAG
TCTCAAGTAAAAAATTTTGAAGAAGATTTTATGAGACAGCAGCGAACAATTAATATGCAACAGTCTCAAGTAGAAAAATACAAAACTCTT
TTCGAAGAAGCAAACAAAAAGTATGATGGATTACAGCAACAGTTGTCTTCAGTAGAAAGGGAATTAGAAAATAAAAGAAGACTGCAAAAA
CAGGCTGCAAGTAGTCAAAGTGCCACAGAGGTTCGCTTGAATAGAGCTCTAGAAGAAGCAGAAAAGTATAAACTGGAGTTAAGTAAATTA
AGGCAAAATAACAAGGACATAGCAAATGAAGAACACAAAAAAATTGAAGTGTTAAAATCAGAAAACAAGAAGCTAGAAAAACAAAAAGGA
GAATTAATGATAGGGTTCAAGAAACAGTTAAAATTAATTGATGTTTTAAAAAGGCAAAAGATGCATATTGAAGCTGCCAAGATGCTATCT
TTCACTGAGGAGGAATTTATGAAAGCACTTGAATGGGGAAATTCATAAGTGATCTACTTCAGTTAGTCTCTATGACAATAAGAAAACTAA
GGCTCAGAGAAAAAGCCAAAACTAGTACTTGCATGACACCTAGTCAAGTCCTAGTAGTATTCGACTTTCATTTTGTGGATCAATTTTTAT
TTGGAAAATAGCAGCAATTCTCGTAGGAGTCAGATTAAAACGTCTACAACTACCTTGAATAACTTCAACTATCAGGATAATTAAAACTGC

>In-frame_FBN1_ENST00000316623_chr15_48905207_-_TEX9_ENST00000537232_chr15_56686363_+_1664nt
GTGGTGATGAGGGCGACGAAGGAGGGGGTGTCATTTTCTTTTTCTTTCTTTTTTTAAAAAAAGTATTTCTCTCGCGAGAAACCGCTGCGC
GGACGATACTTGAAGAGGTGGGGAAAGGAGGGGGCTGCGGGAGCCGCGGCAGAGACTGTGGGTGCCACAAGCGGACAGGAGCCACAGCTG
GGACAGCTGCGAGCGGAGCCGAGCAGTGGCTGTAGCGGCCACGACTGGGAGCAGCCGCCGCCGCCTCCTCGGGAGTCGGAGCCGCCGCTT
CTCCACTGGCAGGGGCCGCCTGAAGTGGGAGCAGCGCCTGGAGAAGGCGGGAGGAGCCCGGCCCGGGGGACGGGCGGCGGGATAGCGGGA
CCCCGGCGGCGCGGTGCGCTTCAGGGCGCAGCGGCGGCCGCAGACCGAGCCCCGGGCGCGGCAAGAGGCGGCGGGAGCCGGTGGCGGCTC
GGCATCATGCGTCGAGGGCGTCTGCTGGAGATCGCCCTGGGATTTACCGTGCTTTTAGCGTCCTACACGAGCCATGGGGCGGACGCCAAT
TTGGAGGCTGGGAACGTGAAGGAAACCAGAGCCAGTCGGGCCAAGAGAAGAGGCGGTGGAGGACACGACGCGCTTAAAGGACCCAATGTC
TGTGGATCACGTTATAATGCTTACTGTTGCCCTGGATGGAAAACCTTACCTGGCGGAAATCAGTGTATTGTCCAAGCACAGATCAGATTT
CTAAAGGCCAAACTCCATGTTATGCAGGAGGAATTGGATAATGTTGTATGTGAATGCAATAAAAAGGAGGATGAAATTCAGAATTTAAAG
TCTCAAGTAAAAAATTTTGAAGAAGATTTTATGAGACAGCAGCGAACAATTAATATGCAACAGTCTCAAGTAGAAAAATACAAAACTCTT
TTCGAAGAAGCAAACAAAAAGTATGATGGATTACAGCAACAGTTGTCTTCAGTAGAAAGGGAATTAGAAAATAAAAGAAGACTGCAAAAA
CAGGCTGCAAGTAGTCAAAGTGCCACAGAGGTTCGCTTGAATAGAGCTCTAGAAGAAGCAGAAAAGTATAAACTGGAGTTAAGTAAATTA
AGGCAAAATAACAAGGACATAGCAAATGAAGAACACAAAAAAATTGAAGTGTTAAAATCAGAAAACAAGAAGCTAGAAAAACAAAAAGGA
GAATTAATGATAGGGTTCAAGAAACAGTTAAAATTAATTGATGTTTTAAAAAGGCAAAAGATGCATATTGAAGCTGCCAAGATGCTATCT
TTCACTGAGGAGGAATTTATGAAAGCACTTGAATGGGGAAATTCATAAGTGATCTACTTCAGTTAGTCTCTATGACAATAAGAAAACTAA
GGCTCAGAGAAAAAGCCAAAACTAGTACTTGCATGACACCTAGTCAAGTCCTAGTAGTATTCGACTTTCATTTTGTGGATCAATTTTTAT
TTGGAAAATAGCAGCAATTCTCGTAGGAGTCAGATTAAAACGTCTACAACTACCTTGAATAACTTCAACTATCAGGATAATTAAAACTGC
AAACCACTGGACAAACAGGACATTGTTTGTGCTACTTTCTTTTTCAAAGGACAGCGCTATATGGCTTAGCAAATGAAGTCTCTCCACCTT

>In-frame_FBN1_ENST00000316623_chr15_48905207_-_TEX9_ENST00000561221_chr15_56686363_+_2424nt
GTGGTGATGAGGGCGACGAAGGAGGGGGTGTCATTTTCTTTTTCTTTCTTTTTTTAAAAAAAGTATTTCTCTCGCGAGAAACCGCTGCGC
GGACGATACTTGAAGAGGTGGGGAAAGGAGGGGGCTGCGGGAGCCGCGGCAGAGACTGTGGGTGCCACAAGCGGACAGGAGCCACAGCTG
GGACAGCTGCGAGCGGAGCCGAGCAGTGGCTGTAGCGGCCACGACTGGGAGCAGCCGCCGCCGCCTCCTCGGGAGTCGGAGCCGCCGCTT
CTCCACTGGCAGGGGCCGCCTGAAGTGGGAGCAGCGCCTGGAGAAGGCGGGAGGAGCCCGGCCCGGGGGACGGGCGGCGGGATAGCGGGA
CCCCGGCGGCGCGGTGCGCTTCAGGGCGCAGCGGCGGCCGCAGACCGAGCCCCGGGCGCGGCAAGAGGCGGCGGGAGCCGGTGGCGGCTC
GGCATCATGCGTCGAGGGCGTCTGCTGGAGATCGCCCTGGGATTTACCGTGCTTTTAGCGTCCTACACGAGCCATGGGGCGGACGCCAAT
TTGGAGGCTGGGAACGTGAAGGAAACCAGAGCCAGTCGGGCCAAGAGAAGAGGCGGTGGAGGACACGACGCGCTTAAAGGACCCAATGTC
TGTGGATCACGTTATAATGCTTACTGTTGCCCTGGATGGAAAACCTTACCTGGCGGAAATCAGTGTATTGTCCAAGCACAGATCAGATTT
CTAAAGGCCAAACTCCATGTTATGCAGGAGGAATTGGATAATGTTGTATGTGAATGCAATAAAAAGGAGGATGAAATTCAGAATTTAAAG
TCTCAAGTAAAAAATTTTGAAGAAGATTTTATGAGACAGCAGCGAACAATTAATATGCAACAGTCTCAAGTAGAAAAATACAAAACTCTT
TTCGAAGAAGCAAACAAAAAGTATGATGGATTACAGCAACAGTTGTCTTCAGTAGAAAGGGTAATTATTTGGTATTTTTCCTAACTTAAT
GCCACAGATACAAGAAAATTATTAAGGTTACACATTTGTATAGATGCCATTTTGACAGTTCAGTTATTTTATTAGTATTTACTGAAAACT
CTTTCCCCTTACATAGAATATTTTTAACAACTTTATTGAGATGTAATTCACCCTTTTAAAGTATGCAATTCAATGGCTTTTGGTGTATTC
ATAGAATTGTGCAACTATCACCACAACCATTTTCATAATCCCTAAAAGATACTTCATACCCTTTAGCCACCACACCCTGACCCTGCTCCC
CTCAATCCCTTACAGCCCTAGGCAACCACTATTCTATTTTATGTCTCAATAAATTTGTCTATTCTGGAAATCACATATACGTGGAATCAT
ATAATATGTGGTCTTTTGTGACTGACTTTTACTTAAGATATTTTCAAGGTTCATTCATGTTGCAGCCCCTATCAGTATTTTATTTCTTTT
TATTGGCAAGTAACATTCTGTTATATGGATATAACACATTTAATTTATCTGTTTATCAGTTCGTAGCTTTAGGTTATTTGGGTTGTTTCT
ACTGTCTGACAATTTTAAATACTTTGAATATTCATGTACAAGTTTTTGTGTGCACGTATGTTTCTATTTCTCTTGGTTATATAGCCAGGA
ATGGAATTGCTGGGTCATATGGAAATCCTATGTTGACCTTTTGAGGAATTGCTGACTGTTTTCCAACCTGCCTGTACCATTTTACATTCC
TACCAGTAGTGCATGAAGCTCCTAATTTCTACACATCCTCACCAACATCTGCTAGATTATCTTTTTGATTATAGCCATACTGCAAGTGTA
AAAGGGTTACCTCATTGTGGTTTTGATTTGCATTTCCCTAATAACTAATGATGTTGAACATCTTTTCATGTGCTTATTGGCATTTGTATA
TTTTCTTTGGAGAAATGTCTGTTAAGGTCTTTGCCCATTTTTTAAATTGGATTTGAAAAAATTACTGAATAATAAGAACTTTTAAGTTCT
TTATGTGTTTAGATACAAGTCCCTTATCAGGTATATTTTGCAAATAGTTTTCCCCTACAGTGGGTTGTCTTTCACTTTCTTTATGGTACT
CTAAAGGCACAAAAGTTTTAAATTTTGATGAAGTCCAGTTTATCTAATATTTATTTGGTTTCCTGTGCTTTTGGTGTCATATTTAAGGGG
AGAATGTATTTTAAATAAACTATCCTAGCTTATATTAGTGTGCCATTGTGAAAATAAAAATATACTGTTTGAGATTGCTTTGTAAAATGT
AGTGACGATAAGAATTATGTAATATAGCATATCCCGAGATTTAGTAAGAAAATGTGCCCCCTTTATTAGTACCCTTACATTTCTCGTTTG

>In-frame_FBN1_ENST00000316623_chr15_48905207_-_TEX9_ENST00000558083_chr15_56686363_+_4467nt
GTGGTGATGAGGGCGACGAAGGAGGGGGTGTCATTTTCTTTTTCTTTCTTTTTTTAAAAAAAGTATTTCTCTCGCGAGAAACCGCTGCGC
GGACGATACTTGAAGAGGTGGGGAAAGGAGGGGGCTGCGGGAGCCGCGGCAGAGACTGTGGGTGCCACAAGCGGACAGGAGCCACAGCTG
GGACAGCTGCGAGCGGAGCCGAGCAGTGGCTGTAGCGGCCACGACTGGGAGCAGCCGCCGCCGCCTCCTCGGGAGTCGGAGCCGCCGCTT
CTCCACTGGCAGGGGCCGCCTGAAGTGGGAGCAGCGCCTGGAGAAGGCGGGAGGAGCCCGGCCCGGGGGACGGGCGGCGGGATAGCGGGA
CCCCGGCGGCGCGGTGCGCTTCAGGGCGCAGCGGCGGCCGCAGACCGAGCCCCGGGCGCGGCAAGAGGCGGCGGGAGCCGGTGGCGGCTC
GGCATCATGCGTCGAGGGCGTCTGCTGGAGATCGCCCTGGGATTTACCGTGCTTTTAGCGTCCTACACGAGCCATGGGGCGGACGCCAAT
TTGGAGGCTGGGAACGTGAAGGAAACCAGAGCCAGTCGGGCCAAGAGAAGAGGCGGTGGAGGACACGACGCGCTTAAAGGACCCAATGTC
TGTGGATCACGTTATAATGCTTACTGTTGCCCTGGATGGAAAACCTTACCTGGCGGAAATCAGTGTATTGTCCAAGCACAGATCAGATTT
CTAAAGGCCAAACTCCATGTTATGCAGGAGGAATTGGATAATGTTGTATGTGAATGCAATAAAAAGGAGGATGAAATTCAGAATTTAAAG
TCTCAAGTAAAAAATTTTGAAGAAGATTTTATGAGACAGCAGCGAACAATTAATATGCAACAGTCTCAAGTAGAAAAATACAAAACTCTT
TTCGAAGAAGCAAACAAAAAGTATGATGGATTACAGCAACAGTTGTCTTCAGTAGAAAGGGTAATTATTTGGTATTTTTCCTAACTTAAT
GCCACAGATACAAGAAAATTATTAAGGTTACACATTTGTATAGATGCCATTTTGACAGTTCAGTTATTTTATTAGTATTTACTGAAAACT
CTTTCCCCTTACATAGAATATTTTTAACAACTTTATTGAGATGTAATTCACCCTTTTAAAGTATGCAATTCAATGGCTTTTGGTGTATTC
ATAGAATTGTGCAACTATCACCACAACCATTTTCATAATCCCTAAAAGATACTTCATACCCTTTAGCCACCACACCCTGACCCTGCTCCC
CTCAATCCCTTACAGCCCTAGGCAACCACTATTCTATTTTATGTCTCAATAAATTTGTCTATTCTGGAAATCACATATACGTGGAATCAT
ATAATATGTGGTCTTTTGTGACTGACTTTTACTTAAGATATTTTCAAGGTTCATTCATGTTGCAGCCCCTATCAGTATTTTATTTCTTTT
TATTGGCAAGTAACATTCTGTTATATGGATATAACACATTTAATTTATCTGTTTATCAGTTCGTAGCTTTAGGTTATTTGGGTTGTTTCT
ACTGTCTGACAATTTTAAATACTTTGAATATTCATGTACAAGTTTTTGTGTGCACGTATGTTTCTATTTCTCTTGGTTATATAGCCAGGA
ATGGAATTGCTGGGTCATATGGAAATCCTATGTTGACCTTTTGAGGAATTGCTGACTGTTTTCCAACCTGCCTGTACCATTTTACATTCC
TACCAGTAGTGCATGAAGCTCCTAATTTCTACACATCCTCACCAACATCTGCTAGATTATCTTTTTGATTATAGCCATACTGCAAGTGTA
AAAGGGTTACCTCATTGTGGTTTTGATTTGCATTTCCCTAATAACTAATGATGTTGAACATCTTTTCATGTGCTTATTGGCATTTGTATA
TTTTCTTTGGAGAAATGTCTGTTAAGGTCTTTGCCCATTTTTTAAATTGGATTTGAAAAAATTACTGAATAATAAGAACTTTTAAGTTCT
TTATGTGTTTAGATACAAGTCCCTTATCAGGTATATTTTGCAAATAGTTTTCCCCTACAGTGGGTTGTCTTTCACTTTCTTTATGGTACT
CTAAAGGCACAAAAGTTTTAAATTTTGATGAAGTCCAGTTTATCTAATATTTATTTGGTTTCCTGTGCTTTTGGTGTCATATTTAAGGGG
AGAATGTATTTTAAATAAACTATCCTAGCTTATATTAGTGTGCCATTGTGAAAATAAAAATATACTGTTTGAGATTGCTTTGTAAAATGT
AGTGACGATAAGAATTATGTAATATAGCATATCCCGAGATTTAGTAAGAAAATGTGCCCCCTTTATTAGTACCCTTACATTTCTCGTTTG
TATGGTCATATTTAAAAACCCTGCTTTTTAAACATTTTGGTCTTGTATAATTAGCTTTATCTTGTAATAAATTTTAATATCAAAATCACT
TAGACAAAATTTATATGCAGTAAATTCACACTTTTTAGTGTACAATTCTATGAGTTTTGACAAATGTATGCAGTAATATAACTATCACTA
TAATTGAGACATAGAACAGTTCCATCAGCCCCCCAAAATTCCCTGTGAATTTAGTGAAGGCCTTCCCTAATTCCACCACCAGGCAACCAC
TGATCTGTGTTTGGTTCTTAAATTTTGGACTTTTCCCAAATGTCACATAAATAGAATCGCATTGGATATAGACTTTTGAATCTGTTTTTT
TTTTTTTTTTTTCAGTTAGCATAAAACATTTGATATGGTTTGGCTGTGTCCCCACCCAAATTTCATCTTGAATTCCCACTTGTTGCGGGA
GGGAGCCGGTGGGAGGTAATTGAATCATGGGGGCAAGTCTTTCCTGTGCTGTTCTTGTGATGGCGAAAAAGTCTCAGGAGATCTGATGGT
TTTAAAAGGGAGAGTTTCCCAGTGCAAACTTTCTTGTCTGCTGCTATGTGAGACATGCCTTTTACTTTCCAACATGATTGTGAGGCCTCC
CCAGCCATGTGGAACTGTGAGTCCAATAAACCTCTCTCTTTTGTAAATTGCCCAGTCTTGGGTGTGTCTTACCAGCAGCATGACGATGAA
CTAATCCAGTAAATTGGTACTAGTAGAGTCAGGCGCTACTGAAAAGATACCAAAAAGTGTTGAAGTGACCTTGGAACTGGGTAAGAGGCA
GAGGTTGGAAAAGTTTGGAGGGCTCAGAAAAATACAGGAAAATATGGGAAAGTTTGGAACTCCCTAGAGACTTGTTGAATGGCTTTGACC
AATATACTGATAATGATATGGACAATGAAATCCAGGCTGAGGTGATCTCAGATGGAGATGAGGAACTTGTTAGGAACTAGAGCAAATGTG
ACTCTTGTTATGTTTTAGCAAAGAGACTGGTGGCATTTTGTCCCTCCCCTAGAGATCTGTGGAACTTTGAACTTGAGAGAGATGATTTAG
GGTATCTGGTGGAACAAATTTCTAAGCAGCAAAGCACTCAAGAGGTGACTTGGTGCTGTTAAAGGCATCCAGTTTTGAAAGGGAAACAGA
GCACAAAAGGTTGGAAAATTTGCAGCCTGAGAATGCAGTGGAAAAGAAAATCCCATTTTCTGAGGAGAAATTCAAGCCGGCTGCAGAAAT
TTGCATAAGTCTTGAGGAGCTGAATGTTAATCCCCAGGACAATGGGGAAAATGTCTCCCAAGGTATGCAGAGGTCTTCACGGCAGCGCCT
CCCATCACAGGCCCAGAGACCTAGGAGGCATGATTGGTTTTGAAATGTGAGGACATGAGATTTGGGAGGGTCTTGGGGTAGAATATGGTT
TGGCTGTGTCCCCACCCAAATTTCATCTTGAATTCCCATGTGTTGTGGGAGGGACCCAGTGGGAGGTCATTGAATCACAGGGGCAGGTCT
TTCCTGTGCTGTTCTCATGAGAGTGAATAAGTCTCAGGAGATTTGATGGTTTTAAAAATGGGAATTTCCCTGCACAAGCTCTCGTCTGCC
ACCATGTGAGATGTGCCTTTACCTTCCAGCATGATTGTGAGGCCTCCCCAGCCATGTGAAACTGTGAGTGCAGTAAATCTCTTTCTTTTG
TAAATTGCCCAGTCTTGGGTATGTCTTTATCAGCAGCATGAAAACGGACTAATACAACATTCAATATTTATCCCTATTATAGTCCATTCC
TTTTTATTGCTGAGTAGTGTAAACTATGAATGAATGTACTTCAGTTTGTTTCCCCACTCATCTAGTAATAAAAGTTAATTATAGTATTTA
ATAGTCTGAACTTGTGTTTCCAGTATGGTAGCCACTTACCATATGTGGCTAAATTGCGATGTGCTATAACTATAAAGTAAAAATCAGATT
TTGAAGAATTCATGTAAAACAGAATGAAGAATGTAAAATATCTCAAAATCTCTTTAATATTTTTTGTATTGGTTATATGTTGAAATAATA


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FusionGenePPI for FBN1_TEX9


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
FBN1MFAP2, FBLN2, MYOC, VCAN, ELN, ATXN7, SPRY2, ZFP41, ZNF408, C4orf26TEX9CCDC112, KDM1A, CCDC148, NOL4L, NOL4, PCM1, SPICE1, CEP128, CEP135, CEP63


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
HgeneFBN1chr15:48905207chr15:56686363ENST00000316623-366119_329822872MFAP4


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for FBN1_TEX9


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for FBN1_TEX9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFBN1C0024796Marfan Syndrome48CTD_human;ORPHANET;UNIPROT
HgeneFBN1C3541518ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT5CTD_human;UNIPROT
HgeneFBN1C0003496Aortic Rupture1CTD_human
HgeneFBN1C0003706Arachnodactyly1CTD_human;HPO
HgeneFBN1C0013581Ectopia Lentis1CTD_human;HPO;ORPHANET
HgeneFBN1C0014175Endometriosis1CTD_human
HgeneFBN1C0020456Hyperglycemia1CTD_human
HgeneFBN1C0020459Hyperinsulinism1CTD_human
HgeneFBN1C0023890Liver Cirrhosis1CTD_human
HgeneFBN1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneFBN1C0162872Aortic Aneurysm, Thoracic1CTD_human
HgeneFBN1C0265287Acromicric Dysplasia1ORPHANET;UNIPROT
HgeneFBN1C1861456Stiff Skin Syndrome1CTD_human;ORPHANET;UNIPROT
HgeneFBN1C3280054GELEOPHYSIC DYSPLASIA 21UNIPROT