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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-BTBD2 (FusionGDB2 ID:23904)

Fusion Gene Summary for DOT1L-BTBD2

check button Fusion gene summary
Fusion gene informationFusion gene name: DOT1L-BTBD2
Fusion gene ID: 23904
HgeneTgene
Gene symbol

DOT1L

BTBD2

Gene ID

84444

55643

Gene nameDOT1 like histone lysine methyltransferaseBTB domain containing 2
SynonymsDOT1|KMT4-
Cytomap

19p13.3

19p13.3

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 methylBTB/POZ domain-containing protein 2BTB (POZ) domain containing 2
Modification date2020031320200327
UniProtAcc

Q8TEK3

Q9BX70

Ensembl transtripts involved in fusion geneENST00000398665, ENST00000608122, 
ENST00000590646, ENST00000255608, 
Fusion gene scores* DoF score22 X 15 X 12=39609 X 6 X 5=270
# samples 299
** MAII scorelog2(29/3960*10)=-3.77137562495204
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/270*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DOT1L [Title/Abstract] AND BTBD2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBTBD2(2013546)-DOT1L(2226182), # samples:1
BTBD2(2015296)-DOT1L(2226182), # samples:1
DOT1L(2223484)-BTBD2(1997463), # samples:1
DOT1L(2223485)-BTBD2(1997462), # samples:1
Anticipated loss of major functional domain due to fusion event.BTBD2-DOT1L seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
BTBD2-DOT1L seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
BTBD2-DOT1L seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
BTBD2-DOT1L seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
BTBD2-DOT1L seems lost the major protein functional domain in Tgene 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 BTBD2 (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
ChimerDB4COADTCGA-AA-3511-01ADOT1Lchr19

2223484

+BTBD2chr19

1997463

-
ChimerDB4COADTCGA-AA-3511-01ADOT1Lchr19

2223485

-BTBD2chr19

1997462

-


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Fusion Gene ORF analysis for DOT1L-BTBD2

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-5UTRENST00000398665ENST00000590646DOT1Lchr19

2223484

+BTBD2chr19

1997463

-
5CDS-5UTRENST00000398665ENST00000590646DOT1Lchr19

2223485

-BTBD2chr19

1997462

-
In-frameENST00000398665ENST00000255608DOT1Lchr19

2223484

+BTBD2chr19

1997463

-
In-frameENST00000398665ENST00000255608DOT1Lchr19

2223485

-BTBD2chr19

1997462

-
intron-3CDSENST00000608122ENST00000255608DOT1Lchr19

2223484

+BTBD2chr19

1997463

-
intron-3CDSENST00000608122ENST00000255608DOT1Lchr19

2223485

-BTBD2chr19

1997462

-
intron-5UTRENST00000608122ENST00000590646DOT1Lchr19

2223484

+BTBD2chr19

1997463

-
intron-5UTRENST00000608122ENST00000590646DOT1Lchr19

2223485

-BTBD2chr19

1997462

-

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)
ENST00000398665DOT1Lchr192223484+ENST00000255608BTBD2chr191997463-584336323648021588
ENST00000398665DOT1Lchr192223485-ENST00000255608BTBD2chr191997462-584336323648021588

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
ENST00000398665ENST00000255608DOT1Lchr192223484+BTBD2chr191997463-0.0080546280.9919453
ENST00000398665ENST00000255608DOT1Lchr192223485-BTBD2chr191997462-0.0080546280.9919453

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Fusion Genomic Features for DOT1L-BTBD2


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-BTBD2


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/chr19:2013546/chr19:2226182)
- 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

BTBD2

Q9BX70

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}.

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
HgeneDOT1Lchr19:2223484chr19:1997463ENST00000398665+252816_33011981538.0DomainDOT1
HgeneDOT1Lchr19:2223485chr19:1997462ENST00000398665-252816_33011981538.0DomainDOT1
HgeneDOT1Lchr19:2223484chr19:1997463ENST00000398665+2528159_16811981538.0RegionNote=S-adenosyl-L-methionine binding
HgeneDOT1Lchr19:2223484chr19:1997463ENST00000398665+2528222_22311981538.0RegionNote=S-adenosyl-L-methionine binding
HgeneDOT1Lchr19:2223485chr19:1997462ENST00000398665-2528159_16811981538.0RegionNote=S-adenosyl-L-methionine binding
HgeneDOT1Lchr19:2223485chr19:1997462ENST00000398665-2528222_22311981538.0RegionNote=S-adenosyl-L-methionine binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneBTBD2chr19:2223484chr19:1997463ENST000002556080941_54135526.0Compositional biasNote=Poly-Ala
TgeneBTBD2chr19:2223485chr19:1997462ENST000002556080941_54135526.0Compositional biasNote=Poly-Ala
TgeneBTBD2chr19:2223484chr19:1997463ENST0000025560809117_187135526.0DomainBTB
TgeneBTBD2chr19:2223485chr19:1997462ENST0000025560809117_187135526.0DomainBTB


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Fusion Gene Sequence for DOT1L-BTBD2


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.
>23904_23904_1_DOT1L-BTBD2_DOT1L_chr19_2223484_ENST00000398665_BTBD2_chr19_1997463_ENST00000255608_length(transcript)=5843nt_BP=3632nt
CCCGCCTAGCATGGTGCGGCGGCCGCGCGCGCGGACATGGGGGAGAAGCTGGAGCTGAGACTGAAGTCGCCCGTGGGGGCTGAGCCCGCC
GTCTACCCGTGGCCGCTGCCGGTCTACGATAAACATCACGATGCTGCTCATGAAATCATCGAGACCATCCGATGGGTCTGTGAAGAAATC
CCGGATCTCAAGCTCGCTATGGAGAATTACGTTTTAATTGACTATGACACCAAAAGCTTCGAGAGCATGCAGAGGCTCTGCGACAAGTAC
AACCGTGCCATCGACAGCATCCACCAGCTGTGGAAGGGCACCACGCAGCCCATGAAGCTGAACACGCGGCCGTCCACTGGACTCCTGCGC
CATATCCTGCAGCAGGTCTACAACCACTCGGTGACCGACCCCGAGAAGCTCAACAACTACGAGCCCTTCTCCCCCGAGGTGTACGGGGAG
ACCTCCTTCGACCTGGTGGCCCAGATGATTGATGAGATCAAGATGACCGACGACGACCTGTTTGTGGACTTGGGGAGCGGTGTGGGCCAG
GTCGTGCTCCAGGTTGCTGCTGCCACCAACTGCAAACATCACTATGGCGTCGAGAAAGCAGACATCCCGGCCAAGTATGCGGAGACCATG
GACCGCGAGTTCAGGAAGTGGATGAAATGGTATGGAAAAAAGCATGCAGAATACACATTGGAGAGAGGCGATTTCCTCTCAGAAGAGTGG
AGGGAGCGAATCGCCAACACGAGTGTTATATTTGTGAATAATTTTGCCTTTGGTCCTGAGGTGGATCACCAGCTGAAGGAGCGGTTTGCA
AACATGAAGGAAGGTGGCAGAATCGTGTCCTCGAAACCCTTTGCACCTCTGAACTTCAGAATAAACAGTAGAAACTTGAGTGACATCGGC
ACCATCATGCGCGTGGTGGAGCTCTCGCCCCTGAAGGGCTCGGTGTCGTGGACGGGGAAGCCAGTCTCCTACTACCTGCACACTATCGAC
CGCACCATACTTGAAAACTATTTTTCTAGTCTGAAAAACCCAAAACTCAGGGAGGAACAGGAGGCAGCCCGGCGCCGCCAGCAGCGCGAG
AGCAAGAGCAACGCGGCCACGCCCACTAAGGGCCCAGAGGGCAAGGTGGCCGGCCCCGCCGACGCCCCCATGGACTCTGGTGCTGAGGAA
GAGAAGGCGGGAGCAGCCACCGTGAAGAAGCCGTCTCCCTCCAAAGCCCGCAAGAAGAAGCTAAACAAGAAGGGGAGGAAGATGGCTGGC
CGCAAGCGCGGGCGCCCCAAGAAGATGAACACTGCGAACCCCGAGCGGAAGCCCAAGAAGAACCAAACTGCACTGGATGCCCTGCACGCT
CAGACCGTGTCTCAGACGGCGGCCTCCTCACCCCAGGATGCCTACAGATCCCCTCACAGCCCGTTCTACCAGCTACCTCCGAGCGTGCAG
CGGCACTCCCCCAACCCGCTGCTGGTGGCGCCCACCCCGCCCGCGCTGCAGAAGCTTCTAGAGTCCTTCAAGATCCAGTACCTGCAGTTC
CTGGCATACACAAAGACCCCCCAGTACAAGGCCAGCCTGCAGGAGCTGCTGGGCCAGGAGAAGGAGAAGAACGCCCAGCTCCTGGGTGCG
GCTCAGCAGCTCCTCAGCCACTGCCAGGCCCAGAAGGAGGAGATCAGGAGGCTGTTTCAGCAAAAATTGGATGAGCTGGGTGTGAAGGCG
CTGACCTACAACGACCTGATTCAAGCGCAGAAGGAGATCTCCGCCCATAACCAGCAGCTGCGGGAGCAGTCGGAGCAGCTGGAGCAGGAC
AACCGCGCGCTCCGCGGCCAGAGCTTGCAGCTGCTCAAGGCTCGCTGCGAGGAGCTGCAGCTGGACTGGGCCACGCTGTCGCTGGAGAAG
CTGTTGAAGGAGAAGCAGGCCCTGAAGAGCCAGATCTCGGAGAAGCAGAGGCACTGCCTGGAGCTGCAGATCAGCATTGTGGAGCTAGAG
AAGAGCCAGCGGCAGCAGGAGCTCCTGCAGCTCAAGTCCTGTGTGCCGCCTGACGACGCCCTGTCCCTGCACCTGCGTGGGAAGGGCGCC
CTGGGCCGCGAGCTGGAGCCTGACGCCAGCCGGCTGCACCTGGAGCTGGACTGCACCAAGTTCTCGCTGCCTCACTTGAGCAGCATGAGC
CCGGAGCTCTCCATGAACGGCCAGGCTGCTGGCTATGAGCTCTGCGGTGTGCTGAGCCGGCCTTCGTCGAAGCAGAACACGCCCCAGTAC
CTGGCCTCACCCCTGGACCAGGAGGTGGTGCCCTGTACCCCTAGCCACGTCGGCCGGCCGCGCCTGGAGAAGCTGTCTGGCCTAGCCGCA
CCCGACTACACTAGGCTGTCCCCGGCCAAGATTGTGCTGAGGCGGCACCTGAGCCAGGACCACACGGTGCCCGGCAGGCCGGCTGCCAGT
GAGCTGCATTCGAGAGCTGAGCACACCAAGGAGAACGGCCTTCCCTACCAGAGCCCCAGCGTGCCTGGCAGCATGAAGCTGAGCCCTCAG
GACCCGCGGCCCCTGTCCCCTGGGGCCTTGCAGCTTGCTGGAGAGAAGAGCAGTGAGAAGGGCCTGAGAGAGCGCGCCTACGGCAGCAGC
GGGGAGCTCATCACCAGCCTGCCCATCAGCATCCCGCTCAGCACCGTGCAGCCCAACAAGCTCCCGGTCAGCATTCCCCTGGCCAGCGTG
GTGCTGCCCAGCCGCGCCGAGAGGGCGAGGAGCACCCCCAGTCCCGTGCTGCAGCCCCGTGACCCCTCGTCCACACTTGAAAAGCAGATT
GGTGCTAATGCCCACGGTGCTGGGAGCAGAAGCCTTGCCCTGGCCCCCGCAGGCTTCTCCTACGCTGGCTCGGTGGCCATCAGCGGGGCC
TTGGCGGGCAGCCCGGCCTCTCTCACACCTGGAGCCGAGCCGGCCACCTTGGATGAGTCCTCCAGCTCTGGGAGCCTTTTTGCCACCGTG
GGGTCCCGCAGCTCCACGCCACAGCACCCCCTGCTGCTGGCACAGCCCCGGAACTCGCTTCCTGCCTCTCCCGCCCACCAGCTCTCCTCC
AGTCCCCGGCTTGGTGGGGCCGCCCAGGGCCCGTTGCCCGAGGCCAGCAAGGGAGACCTGCCCTCCGATTCCGGCTTCTCAGATCCTGAG
AGTGAAGCCAAGAGGAGGATTGTGTTCACCATCACCACTGGTGCGGGCAGTGCCAAGCAGTCGCCCTCCAGCAAGCACAGCCCCCTGACC
GCCAGCGCCCGTGGGGACTGTGTGCCGAGCCACGGGCAGGACAGTCGCAGGCGCGGCCGGCGGAAGCGAGCATCTGCGGGGACGCCCAGC
TTGAGCGCAGGCGTGTCCCCCAAGCGCCGAGCCCTGCCGTCCGTCGCTGGCCTTTTCACACAGCCTTCGGGGTCTCCCCTCAACCTCAAC
TCCATGGTCAGTAACATCAACCAGCCCCTGGAGATTACAGCCATCTCGTCCCCGGAGACCTCCCTGAAGAGCTCCCCTGTGCCCTACCAG
GACCACGACCAGCCCCCCGTGCTCAAGAAGGAGCGGCCTCTGAGCCAGACCAATGGGGCACACTACTCCCCACTCACCTCAGACGAGGAG
CCAGGCTCTGAGGACGAGCCCAGCAGTGCTCGGTTCGTGCTGGCCGTGGGCAGCGCCGTCTTTGATGCCATGTTCAACGGGGGAATGGCC
ACAACATCCACGGAGATTGAGCTGCCCGACGTGGAACCCGCTGCCTTCCTCGCACTGCTCAAGTTTCTCTACTCGGACGAGGTGCAGATT
GGCCCGGAGACGGTGATGACCACGCTATACACCGCCAAGAAGTACGCGGTGCCAGCGCTCGAGGCCCATTGCGTGGAGTTCCTGAAGAAG
AACCTGCGAGCCGACAACGCCTTCATGCTGCTCACGCAGGCGCGACTCTTCGATGAACCGCAGCTGGCCAGCCTGTGCCTGGAGAACATC
GACAAAAACACTGCAGACGCCATCACCGCGGAGGGCTTCACCGACATTGACCTGGACACGCTGGTGGCTGTCCTGGAGCGCGACACACTG
GGCATCCGTGAGGTGCGGCTGTTCAATGCCGTTGTCCGCTGGTCCGAGGCCGAGTGTCAGCGGCAGCAGCTGCAGGTGACGCCAGAGAAC
AGGCGGAAGGTTCTGGGCAAGGCCCTGGGCCTCATTCGCTTCCCGCTCATGACCATCGAGGAGTTCGCTGCAGGTCCCGCACAGTCGGGC
ATCCTGGTGGACCGCGAGGTGGTCAGCCTCTTCCTGCACTTCACCGTCAACCCCAAGCCACGAGTGGAGTTCATTGACCGGCCCCGCTGC
TGCCTGCGTGGGAAGGAGTGCAGCATCAACCGCTTCCAGCAGGTGGAGAGTCGCTGGGGCTACAGCGGGACCAGTGACCGCATCAGGTTC
TCAGTCAACAAGCGCATCTTCGTGGTGGGATTTGGGCTGTATGGATCCATCCACGGGCCCACCGACTACCAAGTGAACATCCAGATTATT
CACACCGATAGCAACACCGTCTTGGGCCAGAACGACACGGGCTTCAGCTGCGACGGCTCAGCCAGCACCTTCCGCGTCATGTTCAAGGAG
CCGGTGGAGGTGCTGCCCAACGTCAACTACACGGCCTGTGCCACGCTCAAGGGCCCAGACTCCCACTACGGCACCAAAGGCCTGCGCAAG
GTGACACACGAGTCGCCCACCACGGGCGCCAAGACCTGCTTCACCTTTTGCTACGCGGCCGGGAACAACAATGGCACATCCGTGGAGGAC
GGCCAGATCCCCGAGGTCATCTTCTACACCTAGGCTGCCCGACACCGACACCGCCCTCCCTCCGTGGGGATAGCCGCAGCCCCAGGCCAT
CATCTGCTGCTGGGGCCCCCCCACCACGCGGTGCCAGGCCCAGTGTCCCCCAGGCCGTCTGTCCACTCCATGCCACCTTTCTCAGCATCA
GGACGGGGTTGCCCTGTGTTCACCACGAGTGTGGCTGCTGGATCAGGGCAGCCGGGGAGGTGGCCAGGCCAGTGGCCAGGCCCTGTGGAG
ACAATCCCTCAGGACTAGGGACAGGGCTGTGCCGGCCTGGGCCAGGGCCCACGGACCCGCAGCTCAGGGCGCCTGCCCACGTCGTCTGCC
GGCGGTGCGCCGCGGGCGTCCCTCGCGTCTCTTCACTGCACATTGCAATGCATTTGCGATTCCCATTTCTCTGCTAGGAGCCAGCCTGGG
TGGCGCTGCTCCCAGAGCCGTGGGTCCCAGACCTTGCGTTCCTTTTGTTCCTGTCCGTTTATCAGGACACGGGCCCCACCTGTCACGTGC
CCGAGGCCACCCAAGCCCAGCCTGCGGGGCGTTCCCACTGCCTGGATGCCGGCTTGAGTTCTGCGCACGCAGGATTCAGTGTGGGGACGG
CCCCTGCCGGATAGGCCTAGCCCTGGCCCAGGTGGTGAGCGGTTTGCAGTGTCCGTTCTCATCCACCTGATGGGCCCAGATAAAGGCCCC
CGCTGTCCAGCCTCCCTGGACGGCCCTCGCGGTCCCTGCAGCCCAAGATGGGACTCAGACCCTGTGCCCCAGAGCTCCCCTGCCGCAGAA
TGGGGCCCCAGCCGGCCCCGACCGGGTCCAGGAGCACTGCTCGCCTGTACATACTGTTGCCCTAGCCCACCTGGTGCCGTGGGAGCCACC
CCCAGGTGCTGGGGGCACAGCCCCTCCCCACTCCGGCCACGCCCCCACCCACCCCGCGTGTTTCTGCCCTGTGACTCCTGGAACCTGCGT

>23904_23904_1_DOT1L-BTBD2_DOT1L_chr19_2223484_ENST00000398665_BTBD2_chr19_1997463_ENST00000255608_length(amino acids)=1588AA_BP=967
MGEKLELRLKSPVGAEPAVYPWPLPVYDKHHDAAHEIIETIRWVCEEIPDLKLAMENYVLIDYDTKSFESMQRLCDKYNRAIDSIHQLWK
GTTQPMKLNTRPSTGLLRHILQQVYNHSVTDPEKLNNYEPFSPEVYGETSFDLVAQMIDEIKMTDDDLFVDLGSGVGQVVLQVAAATNCK
HHYGVEKADIPAKYAETMDREFRKWMKWYGKKHAEYTLERGDFLSEEWRERIANTSVIFVNNFAFGPEVDHQLKERFANMKEGGRIVSSK
PFAPLNFRINSRNLSDIGTIMRVVELSPLKGSVSWTGKPVSYYLHTIDRTILENYFSSLKNPKLREEQEAARRRQQRESKSNAATPTKGP
EGKVAGPADAPMDSGAEEEKAGAATVKKPSPSKARKKKLNKKGRKMAGRKRGRPKKMNTANPERKPKKNQTALDALHAQTVSQTAASSPQ
DAYRSPHSPFYQLPPSVQRHSPNPLLVAPTPPALQKLLESFKIQYLQFLAYTKTPQYKASLQELLGQEKEKNAQLLGAAQQLLSHCQAQK
EEIRRLFQQKLDELGVKALTYNDLIQAQKEISAHNQQLREQSEQLEQDNRALRGQSLQLLKARCEELQLDWATLSLEKLLKEKQALKSQI
SEKQRHCLELQISIVELEKSQRQQELLQLKSCVPPDDALSLHLRGKGALGRELEPDASRLHLELDCTKFSLPHLSSMSPELSMNGQAAGY
ELCGVLSRPSSKQNTPQYLASPLDQEVVPCTPSHVGRPRLEKLSGLAAPDYTRLSPAKIVLRRHLSQDHTVPGRPAASELHSRAEHTKEN
GLPYQSPSVPGSMKLSPQDPRPLSPGALQLAGEKSSEKGLRERAYGSSGELITSLPISIPLSTVQPNKLPVSIPLASVVLPSRAERARST
PSPVLQPRDPSSTLEKQIGANAHGAGSRSLALAPAGFSYAGSVAISGALAGSPASLTPGAEPATLDESSSSGSLFATVGSRSSTPQHPLL
LAQPRNSLPASPAHQLSSSPRLGGAAQGPLPEASKGDLPSDSGFSDPESEAKRRIVFTITTGAGSAKQSPSSKHSPLTASARGDCVPSHG
QDSRRRGRRKRASAGTPSLSAGVSPKRRALPSVAGLFTQPSGSPLNLNSMVSNINQPLEITAISSPETSLKSSPVPYQDHDQPPVLKKER
PLSQTNGAHYSPLTSDEEPGSEDEPSSARFVLAVGSAVFDAMFNGGMATTSTEIELPDVEPAAFLALLKFLYSDEVQIGPETVMTTLYTA
KKYAVPALEAHCVEFLKKNLRADNAFMLLTQARLFDEPQLASLCLENIDKNTADAITAEGFTDIDLDTLVAVLERDTLGIREVRLFNAVV
RWSEAECQRQQLQVTPENRRKVLGKALGLIRFPLMTIEEFAAGPAQSGILVDREVVSLFLHFTVNPKPRVEFIDRPRCCLRGKECSINRF
QQVESRWGYSGTSDRIRFSVNKRIFVVGFGLYGSIHGPTDYQVNIQIIHTDSNTVLGQNDTGFSCDGSASTFRVMFKEPVEVLPNVNYTA

--------------------------------------------------------------
>23904_23904_2_DOT1L-BTBD2_DOT1L_chr19_2223485_ENST00000398665_BTBD2_chr19_1997462_ENST00000255608_length(transcript)=5843nt_BP=3632nt
CCCGCCTAGCATGGTGCGGCGGCCGCGCGCGCGGACATGGGGGAGAAGCTGGAGCTGAGACTGAAGTCGCCCGTGGGGGCTGAGCCCGCC
GTCTACCCGTGGCCGCTGCCGGTCTACGATAAACATCACGATGCTGCTCATGAAATCATCGAGACCATCCGATGGGTCTGTGAAGAAATC
CCGGATCTCAAGCTCGCTATGGAGAATTACGTTTTAATTGACTATGACACCAAAAGCTTCGAGAGCATGCAGAGGCTCTGCGACAAGTAC
AACCGTGCCATCGACAGCATCCACCAGCTGTGGAAGGGCACCACGCAGCCCATGAAGCTGAACACGCGGCCGTCCACTGGACTCCTGCGC
CATATCCTGCAGCAGGTCTACAACCACTCGGTGACCGACCCCGAGAAGCTCAACAACTACGAGCCCTTCTCCCCCGAGGTGTACGGGGAG
ACCTCCTTCGACCTGGTGGCCCAGATGATTGATGAGATCAAGATGACCGACGACGACCTGTTTGTGGACTTGGGGAGCGGTGTGGGCCAG
GTCGTGCTCCAGGTTGCTGCTGCCACCAACTGCAAACATCACTATGGCGTCGAGAAAGCAGACATCCCGGCCAAGTATGCGGAGACCATG
GACCGCGAGTTCAGGAAGTGGATGAAATGGTATGGAAAAAAGCATGCAGAATACACATTGGAGAGAGGCGATTTCCTCTCAGAAGAGTGG
AGGGAGCGAATCGCCAACACGAGTGTTATATTTGTGAATAATTTTGCCTTTGGTCCTGAGGTGGATCACCAGCTGAAGGAGCGGTTTGCA
AACATGAAGGAAGGTGGCAGAATCGTGTCCTCGAAACCCTTTGCACCTCTGAACTTCAGAATAAACAGTAGAAACTTGAGTGACATCGGC
ACCATCATGCGCGTGGTGGAGCTCTCGCCCCTGAAGGGCTCGGTGTCGTGGACGGGGAAGCCAGTCTCCTACTACCTGCACACTATCGAC
CGCACCATACTTGAAAACTATTTTTCTAGTCTGAAAAACCCAAAACTCAGGGAGGAACAGGAGGCAGCCCGGCGCCGCCAGCAGCGCGAG
AGCAAGAGCAACGCGGCCACGCCCACTAAGGGCCCAGAGGGCAAGGTGGCCGGCCCCGCCGACGCCCCCATGGACTCTGGTGCTGAGGAA
GAGAAGGCGGGAGCAGCCACCGTGAAGAAGCCGTCTCCCTCCAAAGCCCGCAAGAAGAAGCTAAACAAGAAGGGGAGGAAGATGGCTGGC
CGCAAGCGCGGGCGCCCCAAGAAGATGAACACTGCGAACCCCGAGCGGAAGCCCAAGAAGAACCAAACTGCACTGGATGCCCTGCACGCT
CAGACCGTGTCTCAGACGGCGGCCTCCTCACCCCAGGATGCCTACAGATCCCCTCACAGCCCGTTCTACCAGCTACCTCCGAGCGTGCAG
CGGCACTCCCCCAACCCGCTGCTGGTGGCGCCCACCCCGCCCGCGCTGCAGAAGCTTCTAGAGTCCTTCAAGATCCAGTACCTGCAGTTC
CTGGCATACACAAAGACCCCCCAGTACAAGGCCAGCCTGCAGGAGCTGCTGGGCCAGGAGAAGGAGAAGAACGCCCAGCTCCTGGGTGCG
GCTCAGCAGCTCCTCAGCCACTGCCAGGCCCAGAAGGAGGAGATCAGGAGGCTGTTTCAGCAAAAATTGGATGAGCTGGGTGTGAAGGCG
CTGACCTACAACGACCTGATTCAAGCGCAGAAGGAGATCTCCGCCCATAACCAGCAGCTGCGGGAGCAGTCGGAGCAGCTGGAGCAGGAC
AACCGCGCGCTCCGCGGCCAGAGCTTGCAGCTGCTCAAGGCTCGCTGCGAGGAGCTGCAGCTGGACTGGGCCACGCTGTCGCTGGAGAAG
CTGTTGAAGGAGAAGCAGGCCCTGAAGAGCCAGATCTCGGAGAAGCAGAGGCACTGCCTGGAGCTGCAGATCAGCATTGTGGAGCTAGAG
AAGAGCCAGCGGCAGCAGGAGCTCCTGCAGCTCAAGTCCTGTGTGCCGCCTGACGACGCCCTGTCCCTGCACCTGCGTGGGAAGGGCGCC
CTGGGCCGCGAGCTGGAGCCTGACGCCAGCCGGCTGCACCTGGAGCTGGACTGCACCAAGTTCTCGCTGCCTCACTTGAGCAGCATGAGC
CCGGAGCTCTCCATGAACGGCCAGGCTGCTGGCTATGAGCTCTGCGGTGTGCTGAGCCGGCCTTCGTCGAAGCAGAACACGCCCCAGTAC
CTGGCCTCACCCCTGGACCAGGAGGTGGTGCCCTGTACCCCTAGCCACGTCGGCCGGCCGCGCCTGGAGAAGCTGTCTGGCCTAGCCGCA
CCCGACTACACTAGGCTGTCCCCGGCCAAGATTGTGCTGAGGCGGCACCTGAGCCAGGACCACACGGTGCCCGGCAGGCCGGCTGCCAGT
GAGCTGCATTCGAGAGCTGAGCACACCAAGGAGAACGGCCTTCCCTACCAGAGCCCCAGCGTGCCTGGCAGCATGAAGCTGAGCCCTCAG
GACCCGCGGCCCCTGTCCCCTGGGGCCTTGCAGCTTGCTGGAGAGAAGAGCAGTGAGAAGGGCCTGAGAGAGCGCGCCTACGGCAGCAGC
GGGGAGCTCATCACCAGCCTGCCCATCAGCATCCCGCTCAGCACCGTGCAGCCCAACAAGCTCCCGGTCAGCATTCCCCTGGCCAGCGTG
GTGCTGCCCAGCCGCGCCGAGAGGGCGAGGAGCACCCCCAGTCCCGTGCTGCAGCCCCGTGACCCCTCGTCCACACTTGAAAAGCAGATT
GGTGCTAATGCCCACGGTGCTGGGAGCAGAAGCCTTGCCCTGGCCCCCGCAGGCTTCTCCTACGCTGGCTCGGTGGCCATCAGCGGGGCC
TTGGCGGGCAGCCCGGCCTCTCTCACACCTGGAGCCGAGCCGGCCACCTTGGATGAGTCCTCCAGCTCTGGGAGCCTTTTTGCCACCGTG
GGGTCCCGCAGCTCCACGCCACAGCACCCCCTGCTGCTGGCACAGCCCCGGAACTCGCTTCCTGCCTCTCCCGCCCACCAGCTCTCCTCC
AGTCCCCGGCTTGGTGGGGCCGCCCAGGGCCCGTTGCCCGAGGCCAGCAAGGGAGACCTGCCCTCCGATTCCGGCTTCTCAGATCCTGAG
AGTGAAGCCAAGAGGAGGATTGTGTTCACCATCACCACTGGTGCGGGCAGTGCCAAGCAGTCGCCCTCCAGCAAGCACAGCCCCCTGACC
GCCAGCGCCCGTGGGGACTGTGTGCCGAGCCACGGGCAGGACAGTCGCAGGCGCGGCCGGCGGAAGCGAGCATCTGCGGGGACGCCCAGC
TTGAGCGCAGGCGTGTCCCCCAAGCGCCGAGCCCTGCCGTCCGTCGCTGGCCTTTTCACACAGCCTTCGGGGTCTCCCCTCAACCTCAAC
TCCATGGTCAGTAACATCAACCAGCCCCTGGAGATTACAGCCATCTCGTCCCCGGAGACCTCCCTGAAGAGCTCCCCTGTGCCCTACCAG
GACCACGACCAGCCCCCCGTGCTCAAGAAGGAGCGGCCTCTGAGCCAGACCAATGGGGCACACTACTCCCCACTCACCTCAGACGAGGAG
CCAGGCTCTGAGGACGAGCCCAGCAGTGCTCGGTTCGTGCTGGCCGTGGGCAGCGCCGTCTTTGATGCCATGTTCAACGGGGGAATGGCC
ACAACATCCACGGAGATTGAGCTGCCCGACGTGGAACCCGCTGCCTTCCTCGCACTGCTCAAGTTTCTCTACTCGGACGAGGTGCAGATT
GGCCCGGAGACGGTGATGACCACGCTATACACCGCCAAGAAGTACGCGGTGCCAGCGCTCGAGGCCCATTGCGTGGAGTTCCTGAAGAAG
AACCTGCGAGCCGACAACGCCTTCATGCTGCTCACGCAGGCGCGACTCTTCGATGAACCGCAGCTGGCCAGCCTGTGCCTGGAGAACATC
GACAAAAACACTGCAGACGCCATCACCGCGGAGGGCTTCACCGACATTGACCTGGACACGCTGGTGGCTGTCCTGGAGCGCGACACACTG
GGCATCCGTGAGGTGCGGCTGTTCAATGCCGTTGTCCGCTGGTCCGAGGCCGAGTGTCAGCGGCAGCAGCTGCAGGTGACGCCAGAGAAC
AGGCGGAAGGTTCTGGGCAAGGCCCTGGGCCTCATTCGCTTCCCGCTCATGACCATCGAGGAGTTCGCTGCAGGTCCCGCACAGTCGGGC
ATCCTGGTGGACCGCGAGGTGGTCAGCCTCTTCCTGCACTTCACCGTCAACCCCAAGCCACGAGTGGAGTTCATTGACCGGCCCCGCTGC
TGCCTGCGTGGGAAGGAGTGCAGCATCAACCGCTTCCAGCAGGTGGAGAGTCGCTGGGGCTACAGCGGGACCAGTGACCGCATCAGGTTC
TCAGTCAACAAGCGCATCTTCGTGGTGGGATTTGGGCTGTATGGATCCATCCACGGGCCCACCGACTACCAAGTGAACATCCAGATTATT
CACACCGATAGCAACACCGTCTTGGGCCAGAACGACACGGGCTTCAGCTGCGACGGCTCAGCCAGCACCTTCCGCGTCATGTTCAAGGAG
CCGGTGGAGGTGCTGCCCAACGTCAACTACACGGCCTGTGCCACGCTCAAGGGCCCAGACTCCCACTACGGCACCAAAGGCCTGCGCAAG
GTGACACACGAGTCGCCCACCACGGGCGCCAAGACCTGCTTCACCTTTTGCTACGCGGCCGGGAACAACAATGGCACATCCGTGGAGGAC
GGCCAGATCCCCGAGGTCATCTTCTACACCTAGGCTGCCCGACACCGACACCGCCCTCCCTCCGTGGGGATAGCCGCAGCCCCAGGCCAT
CATCTGCTGCTGGGGCCCCCCCACCACGCGGTGCCAGGCCCAGTGTCCCCCAGGCCGTCTGTCCACTCCATGCCACCTTTCTCAGCATCA
GGACGGGGTTGCCCTGTGTTCACCACGAGTGTGGCTGCTGGATCAGGGCAGCCGGGGAGGTGGCCAGGCCAGTGGCCAGGCCCTGTGGAG
ACAATCCCTCAGGACTAGGGACAGGGCTGTGCCGGCCTGGGCCAGGGCCCACGGACCCGCAGCTCAGGGCGCCTGCCCACGTCGTCTGCC
GGCGGTGCGCCGCGGGCGTCCCTCGCGTCTCTTCACTGCACATTGCAATGCATTTGCGATTCCCATTTCTCTGCTAGGAGCCAGCCTGGG
TGGCGCTGCTCCCAGAGCCGTGGGTCCCAGACCTTGCGTTCCTTTTGTTCCTGTCCGTTTATCAGGACACGGGCCCCACCTGTCACGTGC
CCGAGGCCACCCAAGCCCAGCCTGCGGGGCGTTCCCACTGCCTGGATGCCGGCTTGAGTTCTGCGCACGCAGGATTCAGTGTGGGGACGG
CCCCTGCCGGATAGGCCTAGCCCTGGCCCAGGTGGTGAGCGGTTTGCAGTGTCCGTTCTCATCCACCTGATGGGCCCAGATAAAGGCCCC
CGCTGTCCAGCCTCCCTGGACGGCCCTCGCGGTCCCTGCAGCCCAAGATGGGACTCAGACCCTGTGCCCCAGAGCTCCCCTGCCGCAGAA
TGGGGCCCCAGCCGGCCCCGACCGGGTCCAGGAGCACTGCTCGCCTGTACATACTGTTGCCCTAGCCCACCTGGTGCCGTGGGAGCCACC
CCCAGGTGCTGGGGGCACAGCCCCTCCCCACTCCGGCCACGCCCCCACCCACCCCGCGTGTTTCTGCCCTGTGACTCCTGGAACCTGCGT

>23904_23904_2_DOT1L-BTBD2_DOT1L_chr19_2223485_ENST00000398665_BTBD2_chr19_1997462_ENST00000255608_length(amino acids)=1588AA_BP=967
MGEKLELRLKSPVGAEPAVYPWPLPVYDKHHDAAHEIIETIRWVCEEIPDLKLAMENYVLIDYDTKSFESMQRLCDKYNRAIDSIHQLWK
GTTQPMKLNTRPSTGLLRHILQQVYNHSVTDPEKLNNYEPFSPEVYGETSFDLVAQMIDEIKMTDDDLFVDLGSGVGQVVLQVAAATNCK
HHYGVEKADIPAKYAETMDREFRKWMKWYGKKHAEYTLERGDFLSEEWRERIANTSVIFVNNFAFGPEVDHQLKERFANMKEGGRIVSSK
PFAPLNFRINSRNLSDIGTIMRVVELSPLKGSVSWTGKPVSYYLHTIDRTILENYFSSLKNPKLREEQEAARRRQQRESKSNAATPTKGP
EGKVAGPADAPMDSGAEEEKAGAATVKKPSPSKARKKKLNKKGRKMAGRKRGRPKKMNTANPERKPKKNQTALDALHAQTVSQTAASSPQ
DAYRSPHSPFYQLPPSVQRHSPNPLLVAPTPPALQKLLESFKIQYLQFLAYTKTPQYKASLQELLGQEKEKNAQLLGAAQQLLSHCQAQK
EEIRRLFQQKLDELGVKALTYNDLIQAQKEISAHNQQLREQSEQLEQDNRALRGQSLQLLKARCEELQLDWATLSLEKLLKEKQALKSQI
SEKQRHCLELQISIVELEKSQRQQELLQLKSCVPPDDALSLHLRGKGALGRELEPDASRLHLELDCTKFSLPHLSSMSPELSMNGQAAGY
ELCGVLSRPSSKQNTPQYLASPLDQEVVPCTPSHVGRPRLEKLSGLAAPDYTRLSPAKIVLRRHLSQDHTVPGRPAASELHSRAEHTKEN
GLPYQSPSVPGSMKLSPQDPRPLSPGALQLAGEKSSEKGLRERAYGSSGELITSLPISIPLSTVQPNKLPVSIPLASVVLPSRAERARST
PSPVLQPRDPSSTLEKQIGANAHGAGSRSLALAPAGFSYAGSVAISGALAGSPASLTPGAEPATLDESSSSGSLFATVGSRSSTPQHPLL
LAQPRNSLPASPAHQLSSSPRLGGAAQGPLPEASKGDLPSDSGFSDPESEAKRRIVFTITTGAGSAKQSPSSKHSPLTASARGDCVPSHG
QDSRRRGRRKRASAGTPSLSAGVSPKRRALPSVAGLFTQPSGSPLNLNSMVSNINQPLEITAISSPETSLKSSPVPYQDHDQPPVLKKER
PLSQTNGAHYSPLTSDEEPGSEDEPSSARFVLAVGSAVFDAMFNGGMATTSTEIELPDVEPAAFLALLKFLYSDEVQIGPETVMTTLYTA
KKYAVPALEAHCVEFLKKNLRADNAFMLLTQARLFDEPQLASLCLENIDKNTADAITAEGFTDIDLDTLVAVLERDTLGIREVRLFNAVV
RWSEAECQRQQLQVTPENRRKVLGKALGLIRFPLMTIEEFAAGPAQSGILVDREVVSLFLHFTVNPKPRVEFIDRPRCCLRGKECSINRF
QQVESRWGYSGTSDRIRFSVNKRIFVVGFGLYGSIHGPTDYQVNIQIIHTDSNTVLGQNDTGFSCDGSASTFRVMFKEPVEVLPNVNYTA

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Fusion Gene PPI Analysis for DOT1L-BTBD2


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-BTBD2


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-BTBD2


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