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Fusion gene ID: 33401 |
FusionGeneSummary for SETD7_FBN1 |
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Fusion gene information | Fusion gene name: SETD7_FBN1 | Fusion gene ID: 33401 | Hgene | Tgene | Gene symbol | SETD7 | FBN1 | Gene ID | 80854 | 2200 |
Gene name | SET domain containing lysine methyltransferase 7 | fibrillin 1 | |
Synonyms | KMT7|SET7|SET7/9|SET9 | ACMICD|ECTOL1|FBN|GPHYSD2|MASS|MFLS|MFS1|OCTD|SGS|SSKS|WMS|WMS2 | |
Cytomap | 4q31.1 | 15q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | histone-lysine N-methyltransferase SETD7H3-K4-HMTase SETD7SET domain-containing protein 7histone H3-K4 methyltransferase SETD7histone H3-lysine 4-specific methyltransferaselysine N-methyltransferase 7 | fibrillin-1asprosinfibrillin 15fibrillin-1 preproprotein | |
Modification date | 20180519 | 20180523 | |
UniProtAcc | Q8WTS6 | P35555 | |
Ensembl transtripts involved in fusion gene | ENST00000506866, ENST00000274031, ENST00000404104, ENST00000406354, ENST00000608958, | ENST00000316623, ENST00000561429, ENST00000560355, | |
Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 9 X 9 X 3=243 |
# samples | 6 | 9 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | SETD7 | GO:0006974 | cellular response to DNA damage stimulus | 23509280 |
Hgene | SETD7 | GO:0018026 | peptidyl-lysine monomethylation | 17108971 |
Hgene | SETD7 | GO:0018027 | peptidyl-lysine dimethylation | 17108971 |
Hgene | SETD7 | GO:0070828 | heterochromatin organization | 23509280 |
Tgene | FBN1 | GO:0033627 | cell adhesion mediated by integrin | 12807887|17158881 |
Tgene | FBN1 | GO:0045671 | negative regulation of osteoclast differentiation | 24039232 |
Tgene | FBN1 | GO:2001205 | negative regulation of osteoclast development | 24039232 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | AW609923 | SETD7 | chr4 | 140450347 | + | FBN1 | chr15 | 48800841 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000506866 | ENST00000316623 | SETD7 | chr4 | 140450347 | + | FBN1 | chr15 | 48800841 | + |
intron-intron | ENST00000506866 | ENST00000561429 | SETD7 | chr4 | 140450347 | + | FBN1 | chr15 | 48800841 | + |
intron-intron | ENST00000506866 | ENST00000560355 | SETD7 | chr4 | 140450347 | + | FBN1 | chr15 | 48800841 | + |
intron-3CDS | ENST00000274031 | ENST00000316623 | SETD7 | chr4 | 140450347 | + | FBN1 | chr15 | 48800841 | + |
intron-intron | ENST00000274031 | ENST00000561429 | SETD7 | chr4 | 140450347 | + | FBN1 | chr15 | 48800841 | + |
intron-intron | ENST00000274031 | ENST00000560355 | SETD7 | chr4 | 140450347 | + | FBN1 | chr15 | 48800841 | + |
intron-3CDS | ENST00000404104 | ENST00000316623 | SETD7 | chr4 | 140450347 | + | FBN1 | chr15 | 48800841 | + |
intron-intron | ENST00000404104 | ENST00000561429 | SETD7 | chr4 | 140450347 | + | FBN1 | chr15 | 48800841 | + |
intron-intron | ENST00000404104 | ENST00000560355 | SETD7 | chr4 | 140450347 | + | FBN1 | chr15 | 48800841 | + |
intron-3CDS | ENST00000406354 | ENST00000316623 | SETD7 | chr4 | 140450347 | + | FBN1 | chr15 | 48800841 | + |
intron-intron | ENST00000406354 | ENST00000561429 | SETD7 | chr4 | 140450347 | + | FBN1 | chr15 | 48800841 | + |
intron-intron | ENST00000406354 | ENST00000560355 | SETD7 | chr4 | 140450347 | + | FBN1 | chr15 | 48800841 | + |
intron-3CDS | ENST00000608958 | ENST00000316623 | SETD7 | chr4 | 140450347 | + | FBN1 | chr15 | 48800841 | + |
intron-intron | ENST00000608958 | ENST00000561429 | SETD7 | chr4 | 140450347 | + | FBN1 | chr15 | 48800841 | + |
intron-intron | ENST00000608958 | ENST00000560355 | SETD7 | chr4 | 140450347 | + | FBN1 | chr15 | 48800841 | + |
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FusionProtFeatures for SETD7_FBN1 |
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Hgene | Tgene |
SETD7 | FBN1 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for SETD7_FBN1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SETD7_FBN1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SETD7_FBN1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | FBN1 | C0024796 | Marfan Syndrome | 48 | CTD_human;ORPHANET;UNIPROT |
Tgene | FBN1 | C3541518 | ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT | 5 | CTD_human;UNIPROT |
Tgene | FBN1 | C0003496 | Aortic Rupture | 1 | CTD_human |
Tgene | FBN1 | C0003706 | Arachnodactyly | 1 | CTD_human;HPO |
Tgene | FBN1 | C0013581 | Ectopia Lentis | 1 | CTD_human;HPO;ORPHANET |
Tgene | FBN1 | C0014175 | Endometriosis | 1 | CTD_human |
Tgene | FBN1 | C0020456 | Hyperglycemia | 1 | CTD_human |
Tgene | FBN1 | C0020459 | Hyperinsulinism | 1 | CTD_human |
Tgene | FBN1 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
Tgene | FBN1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Tgene | FBN1 | C0162872 | Aortic Aneurysm, Thoracic | 1 | CTD_human |
Tgene | FBN1 | C0265287 | Acromicric Dysplasia | 1 | ORPHANET;UNIPROT |
Tgene | FBN1 | C1861456 | Stiff Skin Syndrome | 1 | CTD_human;ORPHANET;UNIPROT |
Tgene | FBN1 | C3280054 | GELEOPHYSIC DYSPLASIA 2 | 1 | UNIPROT |