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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: 26

FusionGeneSummary for AACS_FBN1

check button Fusion gene summary
Fusion gene informationFusion gene name: AACS_FBN1
Fusion gene ID: 26
HgeneTgene
Gene symbol

AACS

FBN1

Gene ID

65985

2200

Gene nameacetoacetyl-CoA synthetasefibrillin 1
SynonymsACSF1|SUR-5ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2
Cytomap

12q24.31

15q21.1

Type of geneprotein-codingprotein-coding
Descriptionacetoacetyl-CoA synthetaseacetoacetate-CoA ligaseacyl-CoA synthetase family member 1homolog of C. elegans supressor of ras 5 (sur-5)protein sur-5 homologfibrillin-1asprosinfibrillin 15fibrillin-1 preproprotein
Modification date2018051920180523
UniProtAcc

Q86V21

P35555

Ensembl transtripts involved in fusion geneENST00000316519, ENST00000261686, 
ENST00000316543, ENST00000545511, 
ENST00000543665, ENST00000398953, 
ENST00000316623, ENST00000561429, 
ENST00000560355, 
Fusion gene scores* DoF score4 X 4 X 4=649 X 9 X 3=243
# samples 49
** MAII scorelog2(4/64*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/243*10)=-1.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AACS [Title/Abstract] AND FBN1 [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
TgeneFBN1

GO:0033627

cell adhesion mediated by integrin

12807887|17158881

TgeneFBN1

GO:0045671

negative regulation of osteoclast differentiation

24039232

TgeneFBN1

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
ChiTaRS3.1BF993118AACSchr12

125591570

-FBN1chr15

48807741

+
* 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
intron-intronENST00000316519ENST00000316623AACSchr12

125591570

-FBN1chr15

48807741

+
intron-intronENST00000316519ENST00000561429AACSchr12

125591570

-FBN1chr15

48807741

+
intron-intronENST00000316519ENST00000560355AACSchr12

125591570

-FBN1chr15

48807741

+
intron-intronENST00000261686ENST00000316623AACSchr12

125591570

-FBN1chr15

48807741

+
intron-intronENST00000261686ENST00000561429AACSchr12

125591570

-FBN1chr15

48807741

+
intron-intronENST00000261686ENST00000560355AACSchr12

125591570

-FBN1chr15

48807741

+
intron-intronENST00000316543ENST00000316623AACSchr12

125591570

-FBN1chr15

48807741

+
intron-intronENST00000316543ENST00000561429AACSchr12

125591570

-FBN1chr15

48807741

+
intron-intronENST00000316543ENST00000560355AACSchr12

125591570

-FBN1chr15

48807741

+
intron-intronENST00000545511ENST00000316623AACSchr12

125591570

-FBN1chr15

48807741

+
intron-intronENST00000545511ENST00000561429AACSchr12

125591570

-FBN1chr15

48807741

+
intron-intronENST00000545511ENST00000560355AACSchr12

125591570

-FBN1chr15

48807741

+
intron-intronENST00000543665ENST00000316623AACSchr12

125591570

-FBN1chr15

48807741

+
intron-intronENST00000543665ENST00000561429AACSchr12

125591570

-FBN1chr15

48807741

+
intron-intronENST00000543665ENST00000560355AACSchr12

125591570

-FBN1chr15

48807741

+
intron-intronENST00000398953ENST00000316623AACSchr12

125591570

-FBN1chr15

48807741

+
intron-intronENST00000398953ENST00000561429AACSchr12

125591570

-FBN1chr15

48807741

+
intron-intronENST00000398953ENST00000560355AACSchr12

125591570

-FBN1chr15

48807741

+

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FusionProtFeatures for AACS_FBN1


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

Q86V21

FBN1

P35555

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

- 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 AACS_FBN1


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 AACS_FBN1


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 AACS_FBN1


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 AACS_FBN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneFBN1C0024796Marfan Syndrome48CTD_human;ORPHANET;UNIPROT
TgeneFBN1C3541518ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT5CTD_human;UNIPROT
TgeneFBN1C0003496Aortic Rupture1CTD_human
TgeneFBN1C0003706Arachnodactyly1CTD_human;HPO
TgeneFBN1C0013581Ectopia Lentis1CTD_human;HPO;ORPHANET
TgeneFBN1C0014175Endometriosis1CTD_human
TgeneFBN1C0020456Hyperglycemia1CTD_human
TgeneFBN1C0020459Hyperinsulinism1CTD_human
TgeneFBN1C0023890Liver Cirrhosis1CTD_human
TgeneFBN1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneFBN1C0162872Aortic Aneurysm, Thoracic1CTD_human
TgeneFBN1C0265287Acromicric Dysplasia1ORPHANET;UNIPROT
TgeneFBN1C1861456Stiff Skin Syndrome1CTD_human;ORPHANET;UNIPROT
TgeneFBN1C3280054GELEOPHYSIC DYSPLASIA 21UNIPROT