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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: 33366

FusionGeneSummary for SETD2_MACROD2

check button Fusion gene summary
Fusion gene informationFusion gene name: SETD2_MACROD2
Fusion gene ID: 33366
HgeneTgene
Gene symbol

SETD2

MACROD2

Gene ID

29072

140733

Gene nameSET domain containing 2MACRO domain containing 2
SynonymsHBP231|HIF-1|HIP-1|HSPC069|HYPB|KMT3A|LLS|SET2|p231HBPC20orf133|C2orf133
Cytomap

3p21.31

20p12.1

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 SETD2O-acetyl-ADP-ribose deacetylase MACROD2MACRO domain-containing protein 2[Protein ADP-ribosylglutamate] hydrolase
Modification date2018051920180519
UniProtAcc

Q9BYW2

A1Z1Q3

Ensembl transtripts involved in fusion geneENST00000409792, ENST00000492397, 
ENST00000217246, ENST00000310348, 
ENST00000464883, ENST00000402914, 
ENST00000378058, ENST00000407045, 
Fusion gene scores* DoF score19 X 9 X 10=171019 X 14 X 11=2926
# samples 2119
** MAII scorelog2(21/1710*10)=-3.02553509210714
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(19/2926*10)=-3.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SETD2 [Title/Abstract] AND MACROD2 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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

TgeneMACROD2

GO:0042278

purine nucleoside metabolic process

21257746

TgeneMACROD2

GO:0051725

protein de-ADP-ribosylation

23474712


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
TCGARVMESOTCGA-SC-A6LM-01ASETD2chr3

47125210

-MACROD2chr20

14066267

+
* 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
Frame-shiftENST00000409792ENST00000217246SETD2chr3

47125210

-MACROD2chr20

14066267

+
Frame-shiftENST00000409792ENST00000310348SETD2chr3

47125210

-MACROD2chr20

14066267

+
5CDS-intronENST00000409792ENST00000464883SETD2chr3

47125210

-MACROD2chr20

14066267

+
5CDS-intronENST00000409792ENST00000402914SETD2chr3

47125210

-MACROD2chr20

14066267

+
5CDS-intronENST00000409792ENST00000378058SETD2chr3

47125210

-MACROD2chr20

14066267

+
5CDS-intronENST00000409792ENST00000407045SETD2chr3

47125210

-MACROD2chr20

14066267

+
5UTR-3CDSENST00000492397ENST00000217246SETD2chr3

47125210

-MACROD2chr20

14066267

+
5UTR-3CDSENST00000492397ENST00000310348SETD2chr3

47125210

-MACROD2chr20

14066267

+
5UTR-intronENST00000492397ENST00000464883SETD2chr3

47125210

-MACROD2chr20

14066267

+
5UTR-intronENST00000492397ENST00000402914SETD2chr3

47125210

-MACROD2chr20

14066267

+
5UTR-intronENST00000492397ENST00000378058SETD2chr3

47125210

-MACROD2chr20

14066267

+
5UTR-intronENST00000492397ENST00000407045SETD2chr3

47125210

-MACROD2chr20

14066267

+

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FusionProtFeatures for SETD2_MACROD2


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

Q9BYW2

MACROD2

A1Z1Q3

Removes ADP-ribose from glutamate residues in proteinsbearing a single ADP-ribose moiety. Inactive towards proteinsbearing poly-ADP-ribose. Deacetylates O-acetyl-ADP ribose, asignaling molecule generated by the deacetylation of acetylatedlysine residues in histones and other proteins.{ECO:0000269|PubMed:21257746, ECO:0000269|PubMed:23474712}.

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_MACROD2


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_MACROD2


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
SETD2HTT, IWS1, TP53, HIST1H3A, SETD2, POLR2A, ELAVL1, ATXN1, CIC, CBX8, SOX2, SMAD3, SIAH2, CLK2, HIST3H3, WDR37, ARHGEF10, LUC7L, SCARA3, AURKA, EIF3I, XPO1, RASSF8, GAN, ATM, HNRNPLL, NXF2, HSPB8, RSBN1, F9, CPNE7, PIP4K2A, TRPC4AP, JMJD6, TRIM25MACROD2TERF1, TERF2


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_MACROD2


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 SETD2_MACROD2


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
TgeneMACROD2C0004352Autistic Disorder1CTD_human
TgeneMACROD2C0023903Liver neoplasms1CTD_human
TgeneMACROD2C0236969Substance-Related Disorders1CTD_human