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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: 33363

FusionGeneSummary for SETD2_F3

check button Fusion gene summary
Fusion gene informationFusion gene name: SETD2_F3
Fusion gene ID: 33363
HgeneTgene
Gene symbol

SETD2

F3

Gene ID

29072

2152

Gene nameSET domain containing 2coagulation factor III, tissue factor
SynonymsHBP231|HIF-1|HIP-1|HSPC069|HYPB|KMT3A|LLS|SET2|p231HBPCD142|TF|TFA
Cytomap

3p21.31

1p21.3

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase SETD2huntingtin interacting protein 1huntingtin yeast partner Bhuntingtin-interacting protein Blysine N-methyltransferase 3Aprotein-lysine N-methyltransferase SETD2tissue factorcoagulation factor III (thromboplastin, tissue factor)
Modification date2018051920180527
UniProtAcc

Q9BYW2

P13726

Ensembl transtripts involved in fusion geneENST00000409792, ENST00000492397, 
ENST00000334047, ENST00000370207, 
ENST00000480356, 
Fusion gene scores* DoF score19 X 9 X 10=17103 X 3 X 1=9
# samples 213
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneSETD2

GO:0010569

regulation of double-strand break repair via homologous recombination

24843002

HgeneSETD2

GO:0018023

peptidyl-lysine trimethylation

27518565

HgeneSETD2

GO:0018026

peptidyl-lysine monomethylation

28753426

HgeneSETD2

GO:0032465

regulation of cytokinesis

27518565

HgeneSETD2

GO:0032727

positive regulation of interferon-alpha production

28753426

HgeneSETD2

GO:0034340

response to type I interferon

28753426

HgeneSETD2

GO:0051607

defense response to virus

28753426

HgeneSETD2

GO:0097198

histone H3-K36 trimethylation

23043551|24843002|26002201|27474439|28753426

HgeneSETD2

GO:0097676

histone H3-K36 dimethylation

26002201

HgeneSETD2

GO:1902850

microtubule cytoskeleton organization involved in mitosis

27518565

HgeneSETD2

GO:1905634

regulation of protein localization to chromatin

24843002

TgeneF3

GO:0001938

positive regulation of endothelial cell proliferation

17898544

TgeneF3

GO:0002541

activation of plasma proteins involved in acute inflammatory response

17469850

TgeneF3

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

17898544

TgeneF3

GO:0007596

blood coagulation

8632006|24998411

TgeneF3

GO:0010641

positive regulation of platelet-derived growth factor receptor signaling pathway

17991872

TgeneF3

GO:0016485

protein processing

24998411

TgeneF3

GO:0045766

positive regulation of angiogenesis

17898544


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
ChiTaRS3.1C02742SETD2chr3

47118876

-F3chr1

94995361

-
* 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-3UTRENST00000409792ENST00000334047SETD2chr3

47118876

-F3chr1

94995361

-
intron-3UTRENST00000409792ENST00000370207SETD2chr3

47118876

-F3chr1

94995361

-
intron-intronENST00000409792ENST00000480356SETD2chr3

47118876

-F3chr1

94995361

-
intron-3UTRENST00000492397ENST00000334047SETD2chr3

47118876

-F3chr1

94995361

-
intron-3UTRENST00000492397ENST00000370207SETD2chr3

47118876

-F3chr1

94995361

-
intron-intronENST00000492397ENST00000480356SETD2chr3

47118876

-F3chr1

94995361

-

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FusionProtFeatures for SETD2_F3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SETD2

Q9BYW2

F3

P13726

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}.

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 SETD2_F3


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 SETD2_F3


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 SETD2_F3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneF3P13726DB00036Coagulation factor VIIa Recombinant HumanTissue factorbiotechapproved

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RelatedDiseases for SETD2_F3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSETD2C0007134Renal Cell Carcinoma2CTD_human
HgeneSETD2C0010606Adenoid Cystic Carcinoma1CTD_human
HgeneSETD2C0010701Phyllodes Tumor1CTD_human
HgeneSETD2C0023418leukemia1CTD_human
HgeneSETD2C0345967Malignant mesothelioma1CTD_human
HgeneSETD2C0920269Microsatellite Instability1CTD_human
HgeneSETD2C1458155Mammary Neoplasms1CTD_human
TgeneF3C0012739Disseminated Intravascular Coagulation3CTD_human
TgeneF3C0040053Thrombosis2CTD_human
TgeneF3C0023487Acute Promyelocytic Leukemia1CTD_human
TgeneF3C0023890Liver Cirrhosis1CTD_human
TgeneF3C0027726Nephrotic Syndrome1CTD_human
TgeneF3C0034155Purpura, Thrombotic Thrombocytopenic1CTD_human
TgeneF3C0042487Venous Thrombosis1CTD_human
TgeneF3C0151744Myocardial Ischemia1CTD_human
TgeneF3C1458155Mammary Neoplasms1CTD_human