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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:AFF1-DMTF1 (FusionGDB2 ID:2653)

Fusion Gene Summary for AFF1-DMTF1

check button Fusion gene summary
Fusion gene informationFusion gene name: AFF1-DMTF1
Fusion gene ID: 2653
HgeneTgene
Gene symbol

AFF1

DMTF1

Gene ID

4299

9988

Gene nameAF4/FMR2 family member 1cyclin D binding myb like transcription factor 1
SynonymsAF4|MLLT2|PBM1DMP1|DMTF|MRUL|hDMP1
Cytomap

4q21.3-q22.1

7q21.12

Type of geneprotein-codingprotein-coding
DescriptionAF4/FMR2 family member 1ALL1-fused gene from chromosome 4 proteinmyeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 2pre-B-cell monocytic leukemia partner 1proto-oncogene AF4cyclin-D-binding Myb-like transcription factor 1cyclin D-binding Myb-like proteincyclin-D-interacting Myb-like protein 1hDMTF1
Modification date2020031320200313
UniProtAcc

P51825

Q9Y222

Ensembl transtripts involved in fusion geneENST00000511996, ENST00000395146, 
ENST00000307808, ENST00000544085, 
ENST00000580710, ENST00000331242, 
ENST00000394702, ENST00000394703, 
ENST00000411766, ENST00000413276, 
ENST00000414194, ENST00000432937, 
Fusion gene scores* DoF score27 X 51 X 13=179019 X 9 X 4=324
# samples 6810
** MAII scorelog2(68/17901*10)=-4.71836162613835
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/324*10)=-1.6959938131099
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AFF1 [Title/Abstract] AND DMTF1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAFF1(87869723)-DMTF1(86792810), # 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 AFF1 (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 DMTF1 (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
ChimerDB4ESCATCGA-L5-A43HAFF1chr4

87869723

+DMTF1chr7

86792810

+


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Fusion Gene ORF analysis for AFF1-DMTF1

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
3UTR-3UTRENST00000511996ENST00000580710AFF1chr4

87869723

+DMTF1chr7

86792810

+
3UTR-5UTRENST00000511996ENST00000331242AFF1chr4

87869723

+DMTF1chr7

86792810

+
3UTR-5UTRENST00000511996ENST00000394702AFF1chr4

87869723

+DMTF1chr7

86792810

+
3UTR-5UTRENST00000511996ENST00000394703AFF1chr4

87869723

+DMTF1chr7

86792810

+
3UTR-5UTRENST00000511996ENST00000411766AFF1chr4

87869723

+DMTF1chr7

86792810

+
3UTR-5UTRENST00000511996ENST00000413276AFF1chr4

87869723

+DMTF1chr7

86792810

+
3UTR-5UTRENST00000511996ENST00000414194AFF1chr4

87869723

+DMTF1chr7

86792810

+
3UTR-5UTRENST00000511996ENST00000432937AFF1chr4

87869723

+DMTF1chr7

86792810

+
5CDS-3UTRENST00000395146ENST00000580710AFF1chr4

87869723

+DMTF1chr7

86792810

+
5CDS-5UTRENST00000395146ENST00000331242AFF1chr4

87869723

+DMTF1chr7

86792810

+
5CDS-5UTRENST00000395146ENST00000394702AFF1chr4

87869723

+DMTF1chr7

86792810

+
5CDS-5UTRENST00000395146ENST00000394703AFF1chr4

87869723

+DMTF1chr7

86792810

+
5CDS-5UTRENST00000395146ENST00000411766AFF1chr4

87869723

+DMTF1chr7

86792810

+
5CDS-5UTRENST00000395146ENST00000413276AFF1chr4

87869723

+DMTF1chr7

86792810

+
5CDS-5UTRENST00000395146ENST00000414194AFF1chr4

87869723

+DMTF1chr7

86792810

+
5CDS-5UTRENST00000395146ENST00000432937AFF1chr4

87869723

+DMTF1chr7

86792810

+
intron-3UTRENST00000307808ENST00000580710AFF1chr4

87869723

+DMTF1chr7

86792810

+
intron-3UTRENST00000544085ENST00000580710AFF1chr4

87869723

+DMTF1chr7

86792810

+
intron-5UTRENST00000307808ENST00000331242AFF1chr4

87869723

+DMTF1chr7

86792810

+
intron-5UTRENST00000307808ENST00000394702AFF1chr4

87869723

+DMTF1chr7

86792810

+
intron-5UTRENST00000307808ENST00000394703AFF1chr4

87869723

+DMTF1chr7

86792810

+
intron-5UTRENST00000307808ENST00000411766AFF1chr4

87869723

+DMTF1chr7

86792810

+
intron-5UTRENST00000307808ENST00000413276AFF1chr4

87869723

+DMTF1chr7

86792810

+
intron-5UTRENST00000307808ENST00000414194AFF1chr4

87869723

+DMTF1chr7

86792810

+
intron-5UTRENST00000307808ENST00000432937AFF1chr4

87869723

+DMTF1chr7

86792810

+
intron-5UTRENST00000544085ENST00000331242AFF1chr4

87869723

+DMTF1chr7

86792810

+
intron-5UTRENST00000544085ENST00000394702AFF1chr4

87869723

+DMTF1chr7

86792810

+
intron-5UTRENST00000544085ENST00000394703AFF1chr4

87869723

+DMTF1chr7

86792810

+
intron-5UTRENST00000544085ENST00000411766AFF1chr4

87869723

+DMTF1chr7

86792810

+
intron-5UTRENST00000544085ENST00000413276AFF1chr4

87869723

+DMTF1chr7

86792810

+
intron-5UTRENST00000544085ENST00000414194AFF1chr4

87869723

+DMTF1chr7

86792810

+
intron-5UTRENST00000544085ENST00000432937AFF1chr4

87869723

+DMTF1chr7

86792810

+

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 AFF1-DMTF1


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)
AFF1chr487869723+DMTF1chr786792810+5.22E-081
AFF1chr487869723+DMTF1chr786792810+5.22E-081

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.
genomic feature of top 1%

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Fusion Protein Features for AFF1-DMTF1


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/:87869723/:86792810)
- 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
AFF1

P51825

DMTF1

Q9Y222

FUNCTION: Transcriptional activator which activates the CDKN2A/ARF locus in response to Ras-Raf signaling, thereby promoting p53/TP53-dependent growth arrest (By similarity). Binds to the consensus sequence 5'-CCCG[GT]ATGT-3' (By similarity). Isoform 1 may cooperate with MYB to activate transcription of the ANPEP gene. Isoform 2 may antagonize transcriptional activation by isoform 1. {ECO:0000250, ECO:0000269|PubMed:12917399}.

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 AFF1-DMTF1


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 AFF1-DMTF1


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 AFF1-DMTF1


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 AFF1-DMTF1


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