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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:SETD5-SETD5 (FusionGDB2 ID:80360)

Fusion Gene Summary for SETD5-SETD5

check button Fusion gene summary
Fusion gene informationFusion gene name: SETD5-SETD5
Fusion gene ID: 80360
HgeneTgene
Gene symbol

SETD5

SETD5

Gene ID

55209

55209

Gene nameSET domain containing 5SET domain containing 5
Synonyms--
Cytomap

3p25.3

3p25.3

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase SETD5SET domain-containing protein 5histone-lysine N-methyltransferase SETD5SET domain-containing protein 5
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000402198, ENST00000402466, 
ENST00000406341, ENST00000407969, 
ENST00000302463, ENST00000488236, 
ENST00000402198, ENST00000402466, 
ENST00000406341, ENST00000407969, 
ENST00000302463, ENST00000488236, 
Fusion gene scores* DoF score19 X 16 X 7=21289 X 11 X 4=396
# samples 2311
** MAII scorelog2(23/2128*10)=-3.20979238455681
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/396*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SETD5 [Title/Abstract] AND SETD5 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSETD5(9475573)-SETD5(9475687), # samples:1
SETD5(9519628)-SETD5(9517370), # samples:1
SETD5(9509727)-SETD5(9490276), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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

check buttonFusion gene breakpoints across SETD5 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across SETD5 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AAB051544SETD5chr3

9475573

-SETD5chr3

9475687

+
ChiTaRS5.0N/ABU619874SETD5chr3

9519628

+SETD5chr3

9517370

+
ChiTaRS5.0N/ADA530612SETD5chr3

9509727

+SETD5chr3

9490276

+


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Fusion Gene ORF analysis for SETD5-SETD5

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
5CDS-intronENST00000402198ENST00000402198SETD5chr3

9475573

-SETD5chr3

9475687

+
5CDS-intronENST00000402198ENST00000402466SETD5chr3

9475573

-SETD5chr3

9475687

+
5CDS-intronENST00000402198ENST00000406341SETD5chr3

9475573

-SETD5chr3

9475687

+
5CDS-intronENST00000402198ENST00000407969SETD5chr3

9475573

-SETD5chr3

9475687

+
5CDS-intronENST00000402198ENST00000302463SETD5chr3

9475573

-SETD5chr3

9475687

+
5CDS-intronENST00000402198ENST00000488236SETD5chr3

9475573

-SETD5chr3

9475687

+
5UTR-intronENST00000402466ENST00000402198SETD5chr3

9475573

-SETD5chr3

9475687

+
5UTR-intronENST00000402466ENST00000402466SETD5chr3

9475573

-SETD5chr3

9475687

+
5UTR-intronENST00000402466ENST00000406341SETD5chr3

9475573

-SETD5chr3

9475687

+
5UTR-intronENST00000402466ENST00000407969SETD5chr3

9475573

-SETD5chr3

9475687

+
5UTR-intronENST00000402466ENST00000302463SETD5chr3

9475573

-SETD5chr3

9475687

+
5UTR-intronENST00000402466ENST00000488236SETD5chr3

9475573

-SETD5chr3

9475687

+
5CDS-intronENST00000406341ENST00000402198SETD5chr3

9475573

-SETD5chr3

9475687

+
5CDS-intronENST00000406341ENST00000402466SETD5chr3

9475573

-SETD5chr3

9475687

+
5CDS-intronENST00000406341ENST00000406341SETD5chr3

9475573

-SETD5chr3

9475687

+
5CDS-intronENST00000406341ENST00000407969SETD5chr3

9475573

-SETD5chr3

9475687

+
5CDS-intronENST00000406341ENST00000302463SETD5chr3

9475573

-SETD5chr3

9475687

+
5CDS-intronENST00000406341ENST00000488236SETD5chr3

9475573

-SETD5chr3

9475687

+
5CDS-intronENST00000407969ENST00000402198SETD5chr3

9475573

-SETD5chr3

9475687

+
5CDS-intronENST00000407969ENST00000402466SETD5chr3

9475573

-SETD5chr3

9475687

+
5CDS-intronENST00000407969ENST00000406341SETD5chr3

9475573

-SETD5chr3

9475687

+
5CDS-intronENST00000407969ENST00000407969SETD5chr3

9475573

-SETD5chr3

9475687

+
5CDS-intronENST00000407969ENST00000302463SETD5chr3

9475573

-SETD5chr3

9475687

+
5CDS-intronENST00000407969ENST00000488236SETD5chr3

9475573

-SETD5chr3

9475687

+
5UTR-intronENST00000302463ENST00000402198SETD5chr3

9475573

-SETD5chr3

9475687

+
5UTR-intronENST00000302463ENST00000402466SETD5chr3

9475573

-SETD5chr3

9475687

+
5UTR-intronENST00000302463ENST00000406341SETD5chr3

9475573

-SETD5chr3

9475687

+
5UTR-intronENST00000302463ENST00000407969SETD5chr3

9475573

-SETD5chr3

9475687

+
5UTR-intronENST00000302463ENST00000302463SETD5chr3

9475573

-SETD5chr3

9475687

+
5UTR-intronENST00000302463ENST00000488236SETD5chr3

9475573

-SETD5chr3

9475687

+
intron-intronENST00000488236ENST00000402198SETD5chr3

9475573

-SETD5chr3

9475687

+
intron-intronENST00000488236ENST00000402466SETD5chr3

9475573

-SETD5chr3

9475687

+
intron-intronENST00000488236ENST00000406341SETD5chr3

9475573

-SETD5chr3

9475687

+
intron-intronENST00000488236ENST00000407969SETD5chr3

9475573

-SETD5chr3

9475687

+
intron-intronENST00000488236ENST00000302463SETD5chr3

9475573

-SETD5chr3

9475687

+
intron-intronENST00000488236ENST00000488236SETD5chr3

9475573

-SETD5chr3

9475687

+
3UTR-3CDSENST00000402198ENST00000402198SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000402198ENST00000402466SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000402198ENST00000406341SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000402198ENST00000407969SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000402198ENST00000302463SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-intronENST00000402198ENST00000488236SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000402466ENST00000402198SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000402466ENST00000402466SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000402466ENST00000406341SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000402466ENST00000407969SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000402466ENST00000302463SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-intronENST00000402466ENST00000488236SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000406341ENST00000402198SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000406341ENST00000402466SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000406341ENST00000406341SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000406341ENST00000407969SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000406341ENST00000302463SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-intronENST00000406341ENST00000488236SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000407969ENST00000402198SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000407969ENST00000402466SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000407969ENST00000406341SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000407969ENST00000407969SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-3CDSENST00000407969ENST00000302463SETD5chr3

9519628

+SETD5chr3

9517370

+
3UTR-intronENST00000407969ENST00000488236SETD5chr3

9519628

+SETD5chr3

9517370

+
intron-3CDSENST00000302463ENST00000402198SETD5chr3

9519628

+SETD5chr3

9517370

+
intron-3CDSENST00000302463ENST00000402466SETD5chr3

9519628

+SETD5chr3

9517370

+
intron-3CDSENST00000302463ENST00000406341SETD5chr3

9519628

+SETD5chr3

9517370

+
intron-3CDSENST00000302463ENST00000407969SETD5chr3

9519628

+SETD5chr3

9517370

+
intron-3CDSENST00000302463ENST00000302463SETD5chr3

9519628

+SETD5chr3

9517370

+
intron-intronENST00000302463ENST00000488236SETD5chr3

9519628

+SETD5chr3

9517370

+
intron-3CDSENST00000488236ENST00000402198SETD5chr3

9519628

+SETD5chr3

9517370

+
intron-3CDSENST00000488236ENST00000402466SETD5chr3

9519628

+SETD5chr3

9517370

+
intron-3CDSENST00000488236ENST00000406341SETD5chr3

9519628

+SETD5chr3

9517370

+
intron-3CDSENST00000488236ENST00000407969SETD5chr3

9519628

+SETD5chr3

9517370

+
intron-3CDSENST00000488236ENST00000302463SETD5chr3

9519628

+SETD5chr3

9517370

+
intron-intronENST00000488236ENST00000488236SETD5chr3

9519628

+SETD5chr3

9517370

+
intron-3CDSENST00000402198ENST00000402198SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000402198ENST00000402466SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000402198ENST00000406341SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000402198ENST00000407969SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000402198ENST00000302463SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3UTRENST00000402198ENST00000488236SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000402466ENST00000402198SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000402466ENST00000402466SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000402466ENST00000406341SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000402466ENST00000407969SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000402466ENST00000302463SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3UTRENST00000402466ENST00000488236SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000406341ENST00000402198SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000406341ENST00000402466SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000406341ENST00000406341SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000406341ENST00000407969SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000406341ENST00000302463SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3UTRENST00000406341ENST00000488236SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000407969ENST00000402198SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000407969ENST00000402466SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000407969ENST00000406341SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000407969ENST00000407969SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000407969ENST00000302463SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3UTRENST00000407969ENST00000488236SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000302463ENST00000402198SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000302463ENST00000402466SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000302463ENST00000406341SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000302463ENST00000407969SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000302463ENST00000302463SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3UTRENST00000302463ENST00000488236SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000488236ENST00000402198SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000488236ENST00000402466SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000488236ENST00000406341SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000488236ENST00000407969SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3CDSENST00000488236ENST00000302463SETD5chr3

9509727

+SETD5chr3

9490276

+
intron-3UTRENST00000488236ENST00000488236SETD5chr3

9509727

+SETD5chr3

9490276

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for SETD5-SETD5


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for SETD5-SETD5


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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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Fusion Gene Sequence for SETD5-SETD5


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for SETD5-SETD5


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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Related Drugs for SETD5-SETD5


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for SETD5-SETD5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSETD5C3810406MENTAL RETARDATION, AUTOSOMAL DOMINANT 235CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneSETD5C0270972Cornelia De Lange Syndrome1ORPHANET
HgeneSETD5C1535926Neurodevelopmental Disorders1CTD_human
TgeneSETD5C3810406MENTAL RETARDATION, AUTOSOMAL DOMINANT 235CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneSETD5C0270972Cornelia De Lange Syndrome1ORPHANET
TgeneSETD5C1535926Neurodevelopmental Disorders1CTD_human