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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:DOT1L-PSG11 (FusionGDB2 ID:23917)

Fusion Gene Summary for DOT1L-PSG11

check button Fusion gene summary
Fusion gene informationFusion gene name: DOT1L-PSG11
Fusion gene ID: 23917
HgeneTgene
Gene symbol

DOT1L

PSG11

Gene ID

84444

5680

Gene nameDOT1 like histone lysine methyltransferasepregnancy specific beta-1-glycoprotein 11
SynonymsDOT1|KMT4PSBG-11|PSBG-13|PSG13|PSG14
Cytomap

19p13.3

19q13.31

Type of geneprotein-codingprotein-coding
Descriptionhistone-lysine N-methyltransferase, H3 lysine-79 specificDOT1 like histone H3K79 methyltransferaseDOT1-like histone methyltransferaseDOT1-like proteinDOT1-like, histone H3 methyltransferaseH3-K79-HMTasehistone H3-K79 methyltransferasehistone methylpregnancy-specific beta-1-glycoprotein 11PS-beta-G-11PS-beta-G-13pregnancy-specific beta-1-glycoprotein 13
Modification date2020031320200313
UniProtAcc

Q8TEK3

.
Ensembl transtripts involved in fusion geneENST00000398665, ENST00000608122, 
ENST00000320078, ENST00000401740, 
ENST00000306322, ENST00000403486, 
ENST00000595312, 
Fusion gene scores* DoF score22 X 15 X 12=39602 X 2 X 2=8
# samples 292
** MAII scorelog2(29/3960*10)=-3.77137562495204
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: DOT1L [Title/Abstract] AND PSG11 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDOT1L(2164264)-PSG11(43523200), # samples:3
Anticipated loss of major functional domain due to fusion event.DOT1L-PSG11 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
DOT1L-PSG11 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
DOT1L-PSG11 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
DOT1L-PSG11 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
* 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
HgeneDOT1L

GO:0008284

positive regulation of cell proliferation

15851025

HgeneDOT1L

GO:0034729

histone H3-K79 methylation

15851025

HgeneDOT1L

GO:0045944

positive regulation of transcription by RNA polymerase II

15851025

HgeneDOT1L

GO:0046425

regulation of JAK-STAT cascade

22002246


check buttonFusion gene breakpoints across DOT1L (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across PSG11 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4SARCTCGA-DX-A6B9-01ADOT1Lchr19

2164264

-PSG11chr19

43523200

-
ChimerDB4SARCTCGA-DX-A6B9-01ADOT1Lchr19

2164264

+PSG11chr19

43523200

-


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Fusion Gene ORF analysis for DOT1L-PSG11

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-shiftENST00000398665ENST00000320078DOT1Lchr19

2164264

+PSG11chr19

43523200

-
Frame-shiftENST00000398665ENST00000401740DOT1Lchr19

2164264

+PSG11chr19

43523200

-
In-frameENST00000398665ENST00000306322DOT1Lchr19

2164264

+PSG11chr19

43523200

-
In-frameENST00000398665ENST00000403486DOT1Lchr19

2164264

+PSG11chr19

43523200

-
In-frameENST00000398665ENST00000595312DOT1Lchr19

2164264

+PSG11chr19

43523200

-
intron-3CDSENST00000608122ENST00000306322DOT1Lchr19

2164264

+PSG11chr19

43523200

-
intron-3CDSENST00000608122ENST00000320078DOT1Lchr19

2164264

+PSG11chr19

43523200

-
intron-3CDSENST00000608122ENST00000401740DOT1Lchr19

2164264

+PSG11chr19

43523200

-
intron-3CDSENST00000608122ENST00000403486DOT1Lchr19

2164264

+PSG11chr19

43523200

-
intron-3CDSENST00000608122ENST00000595312DOT1Lchr19

2164264

+PSG11chr19

43523200

-

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)
ENST00000398665DOT1Lchr192164264+ENST00000403486PSG11chr1943523200-1122117116694192
ENST00000398665DOT1Lchr192164264+ENST00000306322PSG11chr1943523200-946117116694192
ENST00000398665DOT1Lchr192164264+ENST00000595312PSG11chr1943523200-76611779405108

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
ENST00000398665ENST00000403486DOT1Lchr192164264+PSG11chr1943523200-0.0316215120.96837854
ENST00000398665ENST00000306322DOT1Lchr192164264+PSG11chr1943523200-0.0340941730.9659058
ENST00000398665ENST00000595312DOT1Lchr192164264+PSG11chr1943523200-0.511955740.48804426

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Fusion Genomic Features for DOT1L-PSG11


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.
genomic feature

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 DOT1L-PSG11


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:2164264/chr19:43523200)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DOT1L

Q8TEK3

.
FUNCTION: Histone methyltransferase. Methylates 'Lys-79' of histone H3. Nucleosomes are preferred as substrate compared to free histones (PubMed:12123582). Binds to DNA (PubMed:12628190). {ECO:0000269|PubMed:12123582, ECO:0000269|PubMed:12628190}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
TgenePSG11chr19:2164264chr19:43523200ENST0000030632205147_23421165.66666666666666DomainNote=Ig-like C2-type 1
TgenePSG11chr19:2164264chr19:43523200ENST0000030632205242_31721165.66666666666666DomainNote=Ig-like C2-type 2
TgenePSG11chr19:2164264chr19:43523200ENST000003063220535_14421165.66666666666666DomainNote=Ig-like V-type
TgenePSG11chr19:2164264chr19:43523200ENST0000032007816147_234143303.0DomainNote=Ig-like C2-type 1
TgenePSG11chr19:2164264chr19:43523200ENST0000032007816242_317143303.0DomainNote=Ig-like C2-type 2
TgenePSG11chr19:2164264chr19:43523200ENST0000040174016147_234143327.3333333333333DomainNote=Ig-like C2-type 1
TgenePSG11chr19:2164264chr19:43523200ENST0000040174016242_317143327.3333333333333DomainNote=Ig-like C2-type 2
TgenePSG11chr19:2164264chr19:43523200ENST0000040348605147_23421225.33333333333334DomainNote=Ig-like C2-type 1
TgenePSG11chr19:2164264chr19:43523200ENST0000040348605242_31721225.33333333333334DomainNote=Ig-like C2-type 2
TgenePSG11chr19:2164264chr19:43523200ENST000004034860535_14421225.33333333333334DomainNote=Ig-like V-type
TgenePSG11chr19:2164264chr19:43523200ENST0000030632205127_12921165.66666666666666MotifCell attachment site
TgenePSG11chr19:2164264chr19:43523200ENST0000040348605127_12921225.33333333333334MotifCell attachment site

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDOT1Lchr19:2164264chr19:43523200ENST00000398665+12816_330271538.0DomainDOT1
HgeneDOT1Lchr19:2164264chr19:43523200ENST00000398665+128159_168271538.0RegionNote=S-adenosyl-L-methionine binding
HgeneDOT1Lchr19:2164264chr19:43523200ENST00000398665+128222_223271538.0RegionNote=S-adenosyl-L-methionine binding
TgenePSG11chr19:2164264chr19:43523200ENST000003200781635_144143303.0DomainNote=Ig-like V-type
TgenePSG11chr19:2164264chr19:43523200ENST000004017401635_144143327.3333333333333DomainNote=Ig-like V-type
TgenePSG11chr19:2164264chr19:43523200ENST0000032007816127_129143303.0MotifCell attachment site
TgenePSG11chr19:2164264chr19:43523200ENST0000040174016127_129143327.3333333333333MotifCell attachment site


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Fusion Gene Sequence for DOT1L-PSG11


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.
>23917_23917_1_DOT1L-PSG11_DOT1L_chr19_2164264_ENST00000398665_PSG11_chr19_43523200_ENST00000306322_length(transcript)=946nt_BP=117nt
CCCGCCTAGCATGGTGCGGCGGCCGCGCGCGCGGACATGGGGGAGAAGCTGGAGCTGAGACTGAAGTCGCCCGTGGGGGCTGAGCCCGCC
GTCTACCCGTGGCCGCTGCCGGTCTACTGGAGACTCCCAAGCCCTCCATCTCCAGCAGCAACTTAAACCCCAGGGAGGCCATGGAGACTG
TGATCTTAACCTGTAATCCTGAGACTCCGGACGCAAGCTACCTGTGGTGGATGAATGGTCAGAGCCTCCCTATGACTCATAGGATGCAGC
TGTCTGAAACCAACAGGACCCTCTTTCTATTTGGTGTCACAAAGTATACTGCAGGACCCTATGAATGTGAAATATGGAACTCAGGGAGTG
CCAGCCGCAGTGACCCAGTCACCCTGAATCTCCTCCATGGTCCAGACCTCCCCAGAATTTTCCCTTCAGTCACCTCTTACTATTCAGGAG
AGAACCTCGACTTGTCCTGCTTCGCAAACTCTAACCCACCAGCACAGTATTCTTGGACAATTAATGGGAAGTTTCAGCTATCAGGACAAA
AGCTCTTTATCCCTCAGATTACTCCAAAGCATAATGGGCTCTATGCTTGCTCTGCTCGTAACTCAGCCACTGGCGAGGAAAGCTCCACAT
CCTTGACAATCAGAGTCATTGCTCCTCCAGGATTAGGAACTTTTGCTTTCAATAATCCAACGTAGCAGCCGTGATGTCATTTTTGTATTT
CAGGAAGACTGGCAGAAAGTTGCTTTGATTCTTCCTCAAAGTATTTAAAATCAGCTACAGTCCAAAATTGCTTTTTCTTCAAGGAGATTT
ATGGAAAAGACTATGAAAAGGACTCTTGAATACAAGTTCCTGATAACTTCAAGATCATACCACTGGACTAAGAACTTTCAAAATTTTGAT

>23917_23917_1_DOT1L-PSG11_DOT1L_chr19_2164264_ENST00000398665_PSG11_chr19_43523200_ENST00000306322_length(amino acids)=192AA_BP=34
METPKPSISSSNLNPREAMETVILTCNPETPDASYLWWMNGQSLPMTHRMQLSETNRTLFLFGVTKYTAGPYECEIWNSGSASRSDPVTL
NLLHGPDLPRIFPSVTSYYSGENLDLSCFANSNPPAQYSWTINGKFQLSGQKLFIPQITPKHNGLYACSARNSATGEESSTSLTIRVIAP

--------------------------------------------------------------
>23917_23917_2_DOT1L-PSG11_DOT1L_chr19_2164264_ENST00000398665_PSG11_chr19_43523200_ENST00000403486_length(transcript)=1122nt_BP=117nt
CCCGCCTAGCATGGTGCGGCGGCCGCGCGCGCGGACATGGGGGAGAAGCTGGAGCTGAGACTGAAGTCGCCCGTGGGGGCTGAGCCCGCC
GTCTACCCGTGGCCGCTGCCGGTCTACTGGAGACTCCCAAGCCCTCCATCTCCAGCAGCAACTTAAACCCCAGGGAGGCCATGGAGACTG
TGATCTTAACCTGTAATCCTGAGACTCCGGACGCAAGCTACCTGTGGTGGATGAATGGTCAGAGCCTCCCTATGACTCATAGGATGCAGC
TGTCTGAAACCAACAGGACCCTCTTTCTATTTGGTGTCACAAAGTATACTGCAGGACCCTATGAATGTGAAATATGGAACTCAGGGAGTG
CCAGCCGCAGTGACCCAGTCACCCTGAATCTCCTCCATGGTCCAGACCTCCCCAGAATTTTCCCTTCAGTCACCTCTTACTATTCAGGAG
AGAACCTCGACTTGTCCTGCTTCGCAAACTCTAACCCACCAGCACAGTATTCTTGGACAATTAATGGGAAGTTTCAGCTATCAGGACAAA
AGCTCTTTATCCCTCAGATTACTCCAAAGCATAATGGGCTCTATGCTTGCTCTGCTCGTAACTCAGCCACTGGCGAGGAAAGCTCCACAT
CCTTGACAATCAGAGTCATTGCTCCTCCAGGATTAGGAACTTTTGCTTTCAATAATCCAACGTAGCAGCCGTGATGTCATTTTTGTATTT
CAGGAAGACTGGCAGGAGATTTATGGAAAAGACTATGAAAAGGACTCTTGAATACAAGTTCCTGATAACTTCAAGATCATACCACTGGAC
TAAGAACTTTCAAAATTTTGATGAACAGGCTGATACCTTCATGAAATTCAAGACAAAGAAGAAAAGAACTCCATTTCATTGGACTAAATA
ACAAAAGGATAATGTTTTCATAATTTTTTATTGGAAAATGTGCTGATTTTTTGAATGTTTTATCCTCCAGATTTATGAATTTTTTTCTTC
AGCAATTGGTAAAGTATACTTTTGTAAACAAAAATTGAAACATTTGCTTTTGCTCTCTGAGTGCCCCAGAATTGGGAATCTATTCATGAA

>23917_23917_2_DOT1L-PSG11_DOT1L_chr19_2164264_ENST00000398665_PSG11_chr19_43523200_ENST00000403486_length(amino acids)=192AA_BP=34
METPKPSISSSNLNPREAMETVILTCNPETPDASYLWWMNGQSLPMTHRMQLSETNRTLFLFGVTKYTAGPYECEIWNSGSASRSDPVTL
NLLHGPDLPRIFPSVTSYYSGENLDLSCFANSNPPAQYSWTINGKFQLSGQKLFIPQITPKHNGLYACSARNSATGEESSTSLTIRVIAP

--------------------------------------------------------------
>23917_23917_3_DOT1L-PSG11_DOT1L_chr19_2164264_ENST00000398665_PSG11_chr19_43523200_ENST00000595312_length(transcript)=766nt_BP=117nt
CCCGCCTAGCATGGTGCGGCGGCCGCGCGCGCGGACATGGGGGAGAAGCTGGAGCTGAGACTGAAGTCGCCCGTGGGGGCTGAGCCCGCC
GTCTACCCGTGGCCGCTGCCGGTCTACGGAGACTCCCAAGCCCTCCATCTCCAGCAGCAACTTAAACCCCAGGGAGGCCATGGAGACTGT
GATCTTAACCTGTAATCCTGAGACTCCGGACGCAAGCTACCTGTGGTGGATGAATGGTCAGAGCCTCCCTATGACTCATAGGATGCAGCT
GTCTGAAACCAACAGGACCCTCTTTCTATTTGGTGTCACAAAGTATACTGCAGGACCCTATGAATGTGAAATATGGAACTCAGGGAGTGC
CAGCCGCAGTGACCCAGTCACCCTGAATCTCCTCCGCACTTATTAATGACTGCCACAACAGAAACACTGTGAAAAAGATGCAACCATGAA
AAGGTGGAAAGTTTTGATGACATAGAAAATAGCAATCAGCCTTTCTCACATCCCAAAGCCTTCAAATATATATGAGTGCAGCATGGCCAG
TATGGAATTCACCGAAAACTAATCACCAAGCTAGAAATGTGGTGAGAGAAAAAAAAGGGCAAGAATATATTTGGCTTATCACTTCCCACT
TTTGTCTACTAATCTGATGCTGAAAAGAAATTCTCACTGAAGCATTTTAGATTTTGAATCTTTCAGATTTGGGATGCTAAACCAGTAAGT

>23917_23917_3_DOT1L-PSG11_DOT1L_chr19_2164264_ENST00000398665_PSG11_chr19_43523200_ENST00000595312_length(amino acids)=108AA_BP=13
MSPPSTRGRCRSTETPKPSISSSNLNPREAMETVILTCNPETPDASYLWWMNGQSLPMTHRMQLSETNRTLFLFGVTKYTAGPYECEIWN

--------------------------------------------------------------

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Fusion Gene PPI Analysis for DOT1L-PSG11


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 DOT1L-PSG11


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 DOT1L-PSG11


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource