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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-ABL2 (FusionGDB2 ID:2760)

Fusion Gene Summary for AFF1-ABL2

check button Fusion gene summary
Fusion gene informationFusion gene name: AFF1-ABL2
Fusion gene ID: 2760
HgeneTgene
Gene symbol

AFF1

ABL2

Gene ID

4299

27

Gene nameAF4/FMR2 family member 1ABL proto-oncogene 2, non-receptor tyrosine kinase
SynonymsAF4|MLLT2|PBM1ABLL|ARG
Cytomap

4q21.3-q22.1

1q25.2

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 AF4tyrosine-protein kinase ABL2Abelson tyrosine-protein kinase 2abelson-related gene proteinc-abl oncogene 2, non-receptor tyrosine kinasetyrosine-protein kinase ARGv-abl Abelson murine leukemia viral oncogene homolog 2
Modification date2020031320200327
UniProtAcc

P51825

P42684

Ensembl transtripts involved in fusion geneENST00000395146, ENST00000307808, 
ENST00000544085, ENST00000511996, 
ENST00000502732, ENST00000367623, 
ENST00000507173, ENST00000511413, 
ENST00000392043, ENST00000408940, 
ENST00000344730, ENST00000512653, 
ENST00000504405, 
Fusion gene scores* DoF score27 X 51 X 13=1790112 X 13 X 3=468
# samples 6813
** MAII scorelog2(68/17901*10)=-4.71836162613835
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/468*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AFF1 [Title/Abstract] AND ABL2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAFF1(88016121)-ABL2(179102509), # samples:1
Anticipated loss of major functional domain due to fusion event.AFF1-ABL2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
AFF1-ABL2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
AFF1-ABL2 seems lost the major protein functional domain in Tgene partner, which is a kinase due to the frame-shifted ORF.
AFF1-ABL2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
AFF1-ABL2 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target 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
TgeneABL2

GO:0018108

peptidyl-tyrosine phosphorylation

15886098

TgeneABL2

GO:0051353

positive regulation of oxidoreductase activity

12893824


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 ABL2 (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
ChimerDB4STADTCGA-VQ-A922AFF1chr4

88016121

+ABL2chr1

179102509

-


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Fusion Gene ORF analysis for AFF1-ABL2

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-shiftENST00000395146ENST00000502732AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000395146ENST00000367623AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000395146ENST00000507173AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000395146ENST00000511413AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000395146ENST00000392043AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000395146ENST00000408940AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000395146ENST00000344730AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000395146ENST00000512653AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000395146ENST00000504405AFF1chr4

88016121

+ABL2chr1

179102509

-
Frame-shiftENST00000307808ENST00000502732AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000307808ENST00000367623AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000307808ENST00000507173AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000307808ENST00000511413AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000307808ENST00000392043AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000307808ENST00000408940AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000307808ENST00000344730AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000307808ENST00000512653AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000307808ENST00000504405AFF1chr4

88016121

+ABL2chr1

179102509

-
Frame-shiftENST00000544085ENST00000502732AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000544085ENST00000367623AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000544085ENST00000507173AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000544085ENST00000511413AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000544085ENST00000392043AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000544085ENST00000408940AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000544085ENST00000344730AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000544085ENST00000512653AFF1chr4

88016121

+ABL2chr1

179102509

-
5CDS-intronENST00000544085ENST00000504405AFF1chr4

88016121

+ABL2chr1

179102509

-
intron-3CDSENST00000511996ENST00000502732AFF1chr4

88016121

+ABL2chr1

179102509

-
intron-intronENST00000511996ENST00000367623AFF1chr4

88016121

+ABL2chr1

179102509

-
intron-intronENST00000511996ENST00000507173AFF1chr4

88016121

+ABL2chr1

179102509

-
intron-intronENST00000511996ENST00000511413AFF1chr4

88016121

+ABL2chr1

179102509

-
intron-intronENST00000511996ENST00000392043AFF1chr4

88016121

+ABL2chr1

179102509

-
intron-intronENST00000511996ENST00000408940AFF1chr4

88016121

+ABL2chr1

179102509

-
intron-intronENST00000511996ENST00000344730AFF1chr4

88016121

+ABL2chr1

179102509

-
intron-intronENST00000511996ENST00000512653AFF1chr4

88016121

+ABL2chr1

179102509

-
intron-intronENST00000511996ENST00000504405AFF1chr4

88016121

+ABL2chr1

179102509

-

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-ABL2


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 AFF1-ABL2


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
AFF1

P51825

ABL2

P42684

FUNCTION: Non-receptor tyrosine-protein kinase that plays an ABL1-overlapping role in key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion and receptor endocytosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like MYH10 (involved in movement); CTTN (involved in signaling); or TUBA1 and TUBB (microtubule subunits). Binds directly F-actin and regulates actin cytoskeletal structure through its F-actin-bundling activity. Involved in the regulation of cell adhesion and motility through phosphorylation of key regulators of these processes such as CRK, CRKL, DOK1 or ARHGAP35. Adhesion-dependent phosphorylation of ARHGAP35 promotes its association with RASA1, resulting in recruitment of ARHGAP35 to the cell periphery where it inhibits RHO. Phosphorylates multiple receptor tyrosine kinases like PDGFRB and other substrates which are involved in endocytosis regulation such as RIN1. In brain, may regulate neurotransmission by phosphorylating proteins at the synapse. ABL2 acts also as a regulator of multiple pathological signaling cascades during infection. Pathogens can highjack ABL2 kinase signaling to reorganize the host actin cytoskeleton for multiple purposes, like facilitating intracellular movement and host cell exit. Finally, functions as its own regulator through autocatalytic activity as well as through phosphorylation of its inhibitor, ABI1. {ECO:0000269|PubMed:15735735, ECO:0000269|PubMed:15886098, ECO:0000269|PubMed:16678104, ECO:0000269|PubMed:17306540, ECO:0000269|PubMed:18945674}.

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-ABL2


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-ABL2


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-ABL2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneABL2P42684DB01254DasatinibMultitargetSmall moleculeApproved|Investigational
TgeneABL2P42684DB01254DasatinibMultitargetSmall moleculeApproved|Investigational
TgeneABL2P42684DB01254DasatinibMultitargetSmall moleculeApproved|Investigational
TgeneABL2P42684DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneABL2P42684DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgeneABL2P42684DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for AFF1-ABL2


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