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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: 33401

FusionGeneSummary for SETD7_FBN1

check button Fusion gene summary
Fusion gene informationFusion gene name: SETD7_FBN1
Fusion gene ID: 33401
HgeneTgene
Gene symbol

SETD7

FBN1

Gene ID

80854

2200

Gene nameSET domain containing lysine methyltransferase 7fibrillin 1
SynonymsKMT7|SET7|SET7/9|SET9ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2
Cytomap

4q31.1

15q21.1

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase SETD7H3-K4-HMTase SETD7SET domain-containing protein 7histone H3-K4 methyltransferase SETD7histone H3-lysine 4-specific methyltransferaselysine N-methyltransferase 7fibrillin-1asprosinfibrillin 15fibrillin-1 preproprotein
Modification date2018051920180523
UniProtAcc

Q8WTS6

P35555

Ensembl transtripts involved in fusion geneENST00000506866, ENST00000274031, 
ENST00000404104, ENST00000406354, 
ENST00000608958, 
ENST00000316623, 
ENST00000561429, ENST00000560355, 
Fusion gene scores* DoF score5 X 4 X 4=809 X 9 X 3=243
# samples 69
** MAII scorelog2(6/80*10)=-0.415037499278844
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: SETD7 [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
HgeneSETD7

GO:0006974

cellular response to DNA damage stimulus

23509280

HgeneSETD7

GO:0018026

peptidyl-lysine monomethylation

17108971

HgeneSETD7

GO:0018027

peptidyl-lysine dimethylation

17108971

HgeneSETD7

GO:0070828

heterochromatin organization

23509280

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
ChiTaRS3.1AW609923SETD7chr4

140450347

+FBN1chr15

48800841

+
* 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-3CDSENST00000506866ENST00000316623SETD7chr4

140450347

+FBN1chr15

48800841

+
intron-intronENST00000506866ENST00000561429SETD7chr4

140450347

+FBN1chr15

48800841

+
intron-intronENST00000506866ENST00000560355SETD7chr4

140450347

+FBN1chr15

48800841

+
intron-3CDSENST00000274031ENST00000316623SETD7chr4

140450347

+FBN1chr15

48800841

+
intron-intronENST00000274031ENST00000561429SETD7chr4

140450347

+FBN1chr15

48800841

+
intron-intronENST00000274031ENST00000560355SETD7chr4

140450347

+FBN1chr15

48800841

+
intron-3CDSENST00000404104ENST00000316623SETD7chr4

140450347

+FBN1chr15

48800841

+
intron-intronENST00000404104ENST00000561429SETD7chr4

140450347

+FBN1chr15

48800841

+
intron-intronENST00000404104ENST00000560355SETD7chr4

140450347

+FBN1chr15

48800841

+
intron-3CDSENST00000406354ENST00000316623SETD7chr4

140450347

+FBN1chr15

48800841

+
intron-intronENST00000406354ENST00000561429SETD7chr4

140450347

+FBN1chr15

48800841

+
intron-intronENST00000406354ENST00000560355SETD7chr4

140450347

+FBN1chr15

48800841

+
intron-3CDSENST00000608958ENST00000316623SETD7chr4

140450347

+FBN1chr15

48800841

+
intron-intronENST00000608958ENST00000561429SETD7chr4

140450347

+FBN1chr15

48800841

+
intron-intronENST00000608958ENST00000560355SETD7chr4

140450347

+FBN1chr15

48800841

+

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FusionProtFeatures for SETD7_FBN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SETD7

Q8WTS6

FBN1

P35555

Histone methyltransferase that specificallymonomethylates 'Lys-4' of histone H3. H3 'Lys-4' methylationrepresents a specific tag for epigenetic transcriptionalactivation. Plays a central role in the transcriptional activationof genes such as collagenase or insulin. Recruited by IPF1/PDX-1to the insulin promoter, leading to activate transcription. Hasalso methyltransferase activity toward non-histone proteins suchas p53/TP53, TAF10, and possibly TAF7 by recognizing and bindingthe [KR]-[STA]-K in substrate proteins. Monomethylates 'Lys-189'of TAF10, leading to increase the affinity of TAF10 for RNApolymerase II. Monomethylates 'Lys-372' of p53/TP53, stabilizingp53/TP53 and increasing p53/TP53-mediated transcriptionalactivation. {ECO:0000269|PubMed:12540855,ECO:0000269|PubMed:12588998, ECO:0000269|PubMed:15099517,ECO:0000269|PubMed:15525938, ECO:0000269|PubMed:16141209,ECO:0000269|PubMed:17108971}. 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 SETD7_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 SETD7_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 SETD7_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 SETD7_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