	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 33406

FusionGeneSummary for SETDB1_CD46

Fusion gene summary

Fusion gene information	Fusion gene name: SETDB1_CD46
	Fusion gene ID: 33406
		Hgene	Tgene
	Gene symbol	SETDB1	CD46
	Gene ID	9869	4179
	Gene name	SET domain bifurcated 1	CD46 molecule
	Synonyms	ESET\|H3-K9-HMTase4\|KG1T\|KMT1E\|TDRD21	AHUS2\|MCP\|MIC10\|TLX\|TRA2.10
	Cytomap	1q21.3	1q32.2
	Type of gene	protein-coding	protein-coding
	Description	histone-lysine N-methyltransferase SETDB1ERG-associated protein with SET domainERG-associated protein with a SET domain, ESETH3-K9-HMTase 4histone H3-K9 methyltransferase 4histone-lysine N-methyltransferase, H3lysine-9 specific 4lysine N-methyltrans	membrane cofactor proteinCD46 antigen, complement regulatory proteinCD46 molecule, complement regulatory proteinantigen identified by monoclonal antibody TRA-2-10complement membrane cofactor proteinmeasles virus receptormembrane cofactor protein (CD
	Modification date	20180519	20180524
	UniProtAcc	Q15047	P15529
	Ensembl transtripts involved in fusion gene	ENST00000271640, ENST00000368962, ENST00000368969, ENST00000368963, ENST00000459773,	ENST00000367042, ENST00000354848, ENST00000441839, ENST00000322875, ENST00000367041, ENST00000358170, ENST00000322918, ENST00000361067, ENST00000367047, ENST00000357714, ENST00000469535, ENST00000360212, ENST00000480003,
Fusion gene scores	* DoF score	7 X 5 X 5=175	4 X 4 X 4=64
	# samples	7	5
	** MAII score	log2(7/175*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(5/64*10)=-0.356143810225275 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: SETDB1 [Title/Abstract] AND CD46 [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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Tgene	CD46	GO:0008593	regulation of Notch signaling pathway	23086448
Tgene	CD46	GO:0010629	negative regulation of gene expression	23086448
Tgene	CD46	GO:0032613	interleukin-10 production	23086448
Tgene	CD46	GO:0032733	positive regulation of interleukin-10 production	12540904
Tgene	CD46	GO:0035581	sequestering of extracellular ligand from receptor	23086448
Tgene	CD46	GO:0042102	positive regulation of T cell proliferation	12540904
Tgene	CD46	GO:0043382	positive regulation of memory T cell differentiation	12540904
Tgene	CD46	GO:0045591	positive regulation of regulatory T cell differentiation	12540904
Tgene	CD46	GO:0071636	positive regulation of transforming growth factor beta production	12540904

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
TCGA	LD	BRCA	TCGA-OL-A5D8-01A	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+

* LD: Li Ding group's fusion gene list
RV: Roel Verhaak group's fusion gene list
ChiTaRs fusion database

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
Frame-shift	ENST00000271640	ENST00000367042	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
Frame-shift	ENST00000271640	ENST00000354848	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
Frame-shift	ENST00000271640	ENST00000441839	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
Frame-shift	ENST00000271640	ENST00000322875	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
Frame-shift	ENST00000271640	ENST00000367041	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
Frame-shift	ENST00000271640	ENST00000358170	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
Frame-shift	ENST00000271640	ENST00000322918	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
Frame-shift	ENST00000271640	ENST00000361067	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
5CDS-intron	ENST00000271640	ENST00000367047	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
5CDS-intron	ENST00000271640	ENST00000357714	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
5CDS-3UTR	ENST00000271640	ENST00000469535	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
5CDS-3UTR	ENST00000271640	ENST00000360212	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
5CDS-3UTR	ENST00000271640	ENST00000480003	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000368962	ENST00000367042	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000368962	ENST00000354848	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000368962	ENST00000441839	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000368962	ENST00000322875	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000368962	ENST00000367041	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000368962	ENST00000358170	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000368962	ENST00000322918	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000368962	ENST00000361067	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-intron	ENST00000368962	ENST00000367047	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-intron	ENST00000368962	ENST00000357714	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3UTR	ENST00000368962	ENST00000469535	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3UTR	ENST00000368962	ENST00000360212	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3UTR	ENST00000368962	ENST00000480003	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
Frame-shift	ENST00000368969	ENST00000367042	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
Frame-shift	ENST00000368969	ENST00000354848	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
Frame-shift	ENST00000368969	ENST00000441839	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
Frame-shift	ENST00000368969	ENST00000322875	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
Frame-shift	ENST00000368969	ENST00000367041	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
Frame-shift	ENST00000368969	ENST00000358170	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
Frame-shift	ENST00000368969	ENST00000322918	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
Frame-shift	ENST00000368969	ENST00000361067	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
5CDS-intron	ENST00000368969	ENST00000367047	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
5CDS-intron	ENST00000368969	ENST00000357714	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
5CDS-3UTR	ENST00000368969	ENST00000469535	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
5CDS-3UTR	ENST00000368969	ENST00000360212	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
5CDS-3UTR	ENST00000368969	ENST00000480003	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000368963	ENST00000367042	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000368963	ENST00000354848	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000368963	ENST00000441839	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000368963	ENST00000322875	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000368963	ENST00000367041	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000368963	ENST00000358170	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000368963	ENST00000322918	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000368963	ENST00000361067	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-intron	ENST00000368963	ENST00000367047	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-intron	ENST00000368963	ENST00000357714	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3UTR	ENST00000368963	ENST00000469535	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3UTR	ENST00000368963	ENST00000360212	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3UTR	ENST00000368963	ENST00000480003	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000459773	ENST00000367042	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000459773	ENST00000354848	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000459773	ENST00000441839	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000459773	ENST00000322875	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000459773	ENST00000367041	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000459773	ENST00000358170	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000459773	ENST00000322918	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3CDS	ENST00000459773	ENST00000361067	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-intron	ENST00000459773	ENST00000367047	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-intron	ENST00000459773	ENST00000357714	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3UTR	ENST00000459773	ENST00000469535	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3UTR	ENST00000459773	ENST00000360212	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+
intron-3UTR	ENST00000459773	ENST00000480003	SETDB1	chr1	150923957	+	CD46	chr1	207930359	+

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FusionProtFeatures for SETDB1_CD46

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
SETDB1 Q15047	CD46 P15529
Histone methyltransferase that specificallytrimethylates 'Lys-9' of histone H3. H3 'Lys-9' trimethylationrepresents a specific tag for epigenetic transcriptionalrepression by recruiting HP1 (CBX1, CBX3 and/or CBX5) proteins tomethylated histones. Mainly functions in euchromatin regions,thereby playing a central role in the silencing of euchromaticgenes. H3 'Lys-9' trimethylation is coordinated with DNAmethylation. Probably forms a complex with MBD1 and ATF7IP thatrepresses transcription and couples DNA methylation and histone'Lys-9' trimethylation. Its activity is dependent on MBD1 and isheritably maintained through DNA replication by being recruited byCAF-1. SETDB1 is targeted to histone H3 by TRIM28/TIF1B, a factorrecruited by KRAB zinc-finger proteins. Probably forms acorepressor complex required for activated KRAS-mediated promoterhypermethylation and transcriptional silencing of tumor suppressorgenes (TSGs) or other tumor-related genes in colorectal cancer(CRC) cells (PubMed:24623306). Also required to maintain atranscriptionally repressive state of genes in undifferentiatedembryonic stem cells (ESCs) (PubMed:24623306). Associates atpromoter regions of tumor suppressor genes (TSGs) leading to theirgene silencing (PubMed:24623306). The SETDB1-TRIM28-ZNF274 complexmay play a role in recruiting ATRX to the 3'-exons of zinc-fingercoding genes with atypical chromatin signatures to establish ormaintain/protect H3K9me3 at these transcriptionally active regions(PubMed:27029610). {ECO:0000269\|PubMed:12869583,ECO:0000269\|PubMed:14536086, ECO:0000269\|PubMed:15327775,ECO:0000269\|PubMed:17952062, ECO:0000269\|PubMed:24623306,ECO:0000269\|PubMed:27029610}.

Retention 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.

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 SETDB1_CD46

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 SETDB1_CD46

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene	Hgene's interactors	Tgene	Tgene's interactors
SETDB1	TRIM28, SUZ12, HIST2H3A, HIST4H4, HDAC2, SIN3A, SIN3B, C11orf1, DAP, FLYWCH1, PPP1R8, SLC38A3, TOB1, USP11, KDM1A, ASAH1, BRIX1, ORAI2, CBX8, DLEU1, HMOX2, OLFML3, HSPB3, CCDC106, PGAM5, NIPSNAP3A, AIFM1, PHF10, PLEKHA4, POLA2, MOB4, PTPRS, QTRT1, S100A10, THAP8, TOLLIP, TPI1, TRBV2, BHLHE40, BTBD2, TRIB3, CDK4, CRELD1, TRDMT1, ERH, GIPC2, GPS2, GSTO1, MAD2L1BP, MRPL44, PAFAH1B3, PCDHA4, PPA1, PRKRA, PSMD11, RNF10, SAT1, SERPINB9, SULT1E1, TARDBP, TK1, TTR, ULK2, ZFP64, ZNF24, TXNDC9, BAG6, ECSIT, TSC22D1, CDYL, UBE2I, APC, POU5F1, MBD1, CBX5, CHAF1A, CHAF1B, DNMT3A, DNMT3B, ESCO2, ATF7IP, ATF7IP2, HIST1H3A, PCNA, AKT1, AKT2, ESCO1, ZNF274, PCYT2, GRB7, BID, FAM118B, CDKN1A, MAP4K5, SMN1, PSME1, MZT2B, LUC7L2, SUMO2, ANXA7, JARID2, CLSTN1, PML, APLP1, BARD1, TCERG1, LRIF1, VIM, HSP90AA1, SKIL, MDM2, MOV10, NXF1, ZDHHC17, MAGEA1, ATP2A1, TTC1, EXOC4, HECTD1, CCDC109B, FAF2, CCDC85C, EXOC5, FBXO30, ACOT9, XPO1, ATRX, VHL, CLPB, CCDC53, SUV39H1, PHKG2, SUCLG1	CD46	CD9, CD151, CD81, CD82, ITGB1, ITGA2, MSN, SRC, DLG4, YES1, TRIM16L

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for SETDB1_CD46

Drugs targeting genes involved in this fusion gene.
(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 SETDB1_CD46

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	SETDB1	C0025202	melanoma	1	CTD_human
Hgene	SETDB1	C0036341	Schizophrenia	1	PSYGENET
Hgene	SETDB1	C0178417	Anhedonia	1	PSYGENET
Hgene	SETDB1	C0345967	Malignant mesothelioma	1	CTD_human
Tgene	CD46	C2752040	HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 2	4	ORPHANET;UNIPROT
Tgene	CD46	C0025007	Measles	1	CTD_human
Tgene	CD46	C2931788	Atypical Hemolytic Uremic Syndrome	1	CTD_human

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Fusion gene ID: 33406

FusionGeneSummary for SETDB1_CD46

FusionProtFeatures for SETDB1_CD46

FusionGeneSequence for SETDB1_CD46

FusionGenePPI for SETDB1_CD46

RelatedDrugs for SETDB1_CD46

RelatedDiseases for SETDB1_CD46