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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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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 13023

FusionGeneSummary for FBLN7_ACAN

check button Fusion gene summary
Fusion gene informationFusion gene name: FBLN7_ACAN
Fusion gene ID: 13023
HgeneTgene
Gene symbol

FBLN7

ACAN

Gene ID

129804

176

Gene namefibulin 7aggrecan
SynonymsTM14AGC1|AGCAN|CSPG1|CSPGCP|MSK16|SEDK|SSOAOD
Cytomap

2q13-q14.1

15q26.1

Type of geneprotein-codingprotein-coding
Descriptionfibulin-7FIBL-7aggrecan core proteincartilage-specific proteoglycan core proteinchondroitin sulfate proteoglycan core protein 1large aggregating proteoglycan
Modification date2018052220180523
UniProtAcc

Q53RD9

Ensembl transtripts involved in fusion geneENST00000331203, ENST00000409903, 
ENST00000409667, ENST00000409450, 
ENST00000472377, 
ENST00000439576, 
ENST00000558207, ENST00000559004, 
ENST00000352105, ENST00000561243, 
Fusion gene scores* DoF score2 X 2 X 2=85 X 5 X 3=75
# samples 25
** MAII scorelog2(2/8*10)=1.32192809488736log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: FBLN7 [Title/Abstract] AND ACAN [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

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
ChiTaRS3.1BF061357FBLN7chr2

112945649

-ACANchr15

89401959

-
* 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
3UTR-3CDSENST00000331203ENST00000439576FBLN7chr2

112945649

-ACANchr15

89401959

-
3UTR-intronENST00000331203ENST00000558207FBLN7chr2

112945649

-ACANchr15

89401959

-
3UTR-intronENST00000331203ENST00000559004FBLN7chr2

112945649

-ACANchr15

89401959

-
3UTR-intronENST00000331203ENST00000352105FBLN7chr2

112945649

-ACANchr15

89401959

-
3UTR-intronENST00000331203ENST00000561243FBLN7chr2

112945649

-ACANchr15

89401959

-
3UTR-3CDSENST00000409903ENST00000439576FBLN7chr2

112945649

-ACANchr15

89401959

-
3UTR-intronENST00000409903ENST00000558207FBLN7chr2

112945649

-ACANchr15

89401959

-
3UTR-intronENST00000409903ENST00000559004FBLN7chr2

112945649

-ACANchr15

89401959

-
3UTR-intronENST00000409903ENST00000352105FBLN7chr2

112945649

-ACANchr15

89401959

-
3UTR-intronENST00000409903ENST00000561243FBLN7chr2

112945649

-ACANchr15

89401959

-
intron-3CDSENST00000409667ENST00000439576FBLN7chr2

112945649

-ACANchr15

89401959

-
intron-intronENST00000409667ENST00000558207FBLN7chr2

112945649

-ACANchr15

89401959

-
intron-intronENST00000409667ENST00000559004FBLN7chr2

112945649

-ACANchr15

89401959

-
intron-intronENST00000409667ENST00000352105FBLN7chr2

112945649

-ACANchr15

89401959

-
intron-intronENST00000409667ENST00000561243FBLN7chr2

112945649

-ACANchr15

89401959

-
intron-3CDSENST00000409450ENST00000439576FBLN7chr2

112945649

-ACANchr15

89401959

-
intron-intronENST00000409450ENST00000558207FBLN7chr2

112945649

-ACANchr15

89401959

-
intron-intronENST00000409450ENST00000559004FBLN7chr2

112945649

-ACANchr15

89401959

-
intron-intronENST00000409450ENST00000352105FBLN7chr2

112945649

-ACANchr15

89401959

-
intron-intronENST00000409450ENST00000561243FBLN7chr2

112945649

-ACANchr15

89401959

-
intron-3CDSENST00000472377ENST00000439576FBLN7chr2

112945649

-ACANchr15

89401959

-
intron-intronENST00000472377ENST00000558207FBLN7chr2

112945649

-ACANchr15

89401959

-
intron-intronENST00000472377ENST00000559004FBLN7chr2

112945649

-ACANchr15

89401959

-
intron-intronENST00000472377ENST00000352105FBLN7chr2

112945649

-ACANchr15

89401959

-
intron-intronENST00000472377ENST00000561243FBLN7chr2

112945649

-ACANchr15

89401959

-

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FusionProtFeatures for FBLN7_ACAN


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
FBLN7

Q53RD9

ACAN

An adhesion molecule that interacts with extracellularmatrix molecules in developing teeth and may play important rolesin differentiation and maintenance of odontoblasts as well as indentin formation. {ECO:0000250}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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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FusionGeneSequence for FBLN7_ACAN


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for FBLN7_ACAN


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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RelatedDrugs for FBLN7_ACAN


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 FBLN7_ACAN


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneACANC0003873Rheumatoid Arthritis1CTD_human
TgeneACANC0032273Pneumoconiosis1CTD_human
TgeneACANC0238288Muscular Dystrophy, Facioscapulohumeral1CTD_human
TgeneACANC2748544Spondyloepimetaphyseal Dysplasia, Aggrecan Type1CTD_human;ORPHANET;UNIPROT
TgeneACANC3665488Familial Osteochondritis Dissecans1CTD_human;ORPHANET;UNIPROT