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Fusion gene ID: 33363 |
FusionGeneSummary for SETD2_F3 |
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Fusion gene information | Fusion gene name: SETD2_F3 | Fusion gene ID: 33363 | Hgene | Tgene | Gene symbol | SETD2 | F3 | Gene ID | 29072 | 2152 |
Gene name | SET domain containing 2 | coagulation factor III, tissue factor | |
Synonyms | HBP231|HIF-1|HIP-1|HSPC069|HYPB|KMT3A|LLS|SET2|p231HBP | CD142|TF|TFA | |
Cytomap | 3p21.31 | 1p21.3 | |
Type of gene | protein-coding | protein-coding | |
Description | histone-lysine N-methyltransferase SETD2huntingtin interacting protein 1huntingtin yeast partner Bhuntingtin-interacting protein Blysine N-methyltransferase 3Aprotein-lysine N-methyltransferase SETD2 | tissue factorcoagulation factor III (thromboplastin, tissue factor) | |
Modification date | 20180519 | 20180527 | |
UniProtAcc | Q9BYW2 | P13726 | |
Ensembl transtripts involved in fusion gene | ENST00000409792, ENST00000492397, | ENST00000334047, ENST00000370207, ENST00000480356, | |
Fusion gene scores | * DoF score | 19 X 9 X 10=1710 | 3 X 3 X 1=9 |
# samples | 21 | 3 | |
** MAII score | log2(21/1710*10)=-3.02553509210714 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/9*10)=1.73696559416621 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: SETD2 [Title/Abstract] AND F3 [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 | SETD2 | GO:0010569 | regulation of double-strand break repair via homologous recombination | 24843002 |
Hgene | SETD2 | GO:0018023 | peptidyl-lysine trimethylation | 27518565 |
Hgene | SETD2 | GO:0018026 | peptidyl-lysine monomethylation | 28753426 |
Hgene | SETD2 | GO:0032465 | regulation of cytokinesis | 27518565 |
Hgene | SETD2 | GO:0032727 | positive regulation of interferon-alpha production | 28753426 |
Hgene | SETD2 | GO:0034340 | response to type I interferon | 28753426 |
Hgene | SETD2 | GO:0051607 | defense response to virus | 28753426 |
Hgene | SETD2 | GO:0097198 | histone H3-K36 trimethylation | 23043551|24843002|26002201|27474439|28753426 |
Hgene | SETD2 | GO:0097676 | histone H3-K36 dimethylation | 26002201 |
Hgene | SETD2 | GO:1902850 | microtubule cytoskeleton organization involved in mitosis | 27518565 |
Hgene | SETD2 | GO:1905634 | regulation of protein localization to chromatin | 24843002 |
Tgene | F3 | GO:0001938 | positive regulation of endothelial cell proliferation | 17898544 |
Tgene | F3 | GO:0002541 | activation of plasma proteins involved in acute inflammatory response | 17469850 |
Tgene | F3 | GO:0006919 | activation of cysteine-type endopeptidase activity involved in apoptotic process | 17898544 |
Tgene | F3 | GO:0007596 | blood coagulation | 8632006|24998411 |
Tgene | F3 | GO:0010641 | positive regulation of platelet-derived growth factor receptor signaling pathway | 17991872 |
Tgene | F3 | GO:0016485 | protein processing | 24998411 |
Tgene | F3 | GO:0045766 | positive regulation of angiogenesis | 17898544 |
![]() (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 | C02742 | SETD2 | chr3 | 47118876 | - | F3 | chr1 | 94995361 | - |
* 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-3UTR | ENST00000409792 | ENST00000334047 | SETD2 | chr3 | 47118876 | - | F3 | chr1 | 94995361 | - |
intron-3UTR | ENST00000409792 | ENST00000370207 | SETD2 | chr3 | 47118876 | - | F3 | chr1 | 94995361 | - |
intron-intron | ENST00000409792 | ENST00000480356 | SETD2 | chr3 | 47118876 | - | F3 | chr1 | 94995361 | - |
intron-3UTR | ENST00000492397 | ENST00000334047 | SETD2 | chr3 | 47118876 | - | F3 | chr1 | 94995361 | - |
intron-3UTR | ENST00000492397 | ENST00000370207 | SETD2 | chr3 | 47118876 | - | F3 | chr1 | 94995361 | - |
intron-intron | ENST00000492397 | ENST00000480356 | SETD2 | chr3 | 47118876 | - | F3 | chr1 | 94995361 | - |
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FusionProtFeatures for SETD2_F3 |
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Hgene | Tgene |
SETD2 | F3 |
Initiates blood coagulation by forming a complex withcirculating factor VII or VIIa. The [TF:VIIa] complex activatesfactors IX or X by specific limited protolysis. TF plays a role innormal hemostasis by initiating the cell-surface assembly andpropagation of the coagulation protease cascade.{ECO:0000269|PubMed:12652293}. |
![]() * 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 SETD2_F3 |
![]() (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 SETD2_F3 |
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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 SETD2_F3 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | F3 | P13726 | DB00036 | Coagulation factor VIIa Recombinant Human | Tissue factor | biotech | approved |
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RelatedDiseases for SETD2_F3 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | SETD2 | C0007134 | Renal Cell Carcinoma | 2 | CTD_human |
Hgene | SETD2 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
Hgene | SETD2 | C0010701 | Phyllodes Tumor | 1 | CTD_human |
Hgene | SETD2 | C0023418 | leukemia | 1 | CTD_human |
Hgene | SETD2 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
Hgene | SETD2 | C0920269 | Microsatellite Instability | 1 | CTD_human |
Hgene | SETD2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Tgene | F3 | C0012739 | Disseminated Intravascular Coagulation | 3 | CTD_human |
Tgene | F3 | C0040053 | Thrombosis | 2 | CTD_human |
Tgene | F3 | C0023487 | Acute Promyelocytic Leukemia | 1 | CTD_human |
Tgene | F3 | C0023890 | Liver Cirrhosis | 1 | CTD_human |
Tgene | F3 | C0027726 | Nephrotic Syndrome | 1 | CTD_human |
Tgene | F3 | C0034155 | Purpura, Thrombotic Thrombocytopenic | 1 | CTD_human |
Tgene | F3 | C0042487 | Venous Thrombosis | 1 | CTD_human |
Tgene | F3 | C0151744 | Myocardial Ischemia | 1 | CTD_human |
Tgene | F3 | C1458155 | Mammary Neoplasms | 1 | CTD_human |