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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:AFF1-ABL2 (FusionGDB2 ID:HG4299TG27) |
Fusion Gene Summary for AFF1-ABL2 |
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Fusion gene information | Fusion gene name: AFF1-ABL2 | Fusion gene ID: hg4299tg27 | Hgene | Tgene | Gene symbol | AFF1 | ABL2 | Gene ID | 4299 | 27 |
Gene name | AF4/FMR2 family member 1 | ABL proto-oncogene 2, non-receptor tyrosine kinase | |
Synonyms | AF4|MLLT2|PBM1 | ABLL|ARG | |
Cytomap | ('AFF1')('ABL2') 4q21.3-q22.1 | 1q25.2 | |
Type of gene | protein-coding | protein-coding | |
Description | AF4/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 AF4 | tyrosine-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 date | 20200313 | 20200327 | |
UniProtAcc | P51825 | P42684 | |
Ensembl transtripts involved in fusion gene | ENST00000307808, ENST00000395146, ENST00000544085, ENST00000511996, | ||
Fusion gene scores | * DoF score | 27 X 51 X 13=17901 | 12 X 13 X 3=468 |
# samples | 68 | 13 | |
** MAII score | log2(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 breakpoint | AFF1(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 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. AFF1-ABL2 seems lost the major protein functional domain in Tgene partner, which is a kinase 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | ABL2 | GO:0018108 | peptidyl-tyrosine phosphorylation | 15886098 |
Tgene | ABL2 | GO:0051353 | positive regulation of oxidoreductase activity | 12893824 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | STAD | TCGA-VQ-A922 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
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Fusion Gene ORF analysis for AFF1-ABL2 |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-intron | ENST00000307808 | ENST00000344730 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000307808 | ENST00000367623 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000307808 | ENST00000392043 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000307808 | ENST00000408940 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000307808 | ENST00000504405 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000307808 | ENST00000507173 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000307808 | ENST00000511413 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000307808 | ENST00000512653 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000395146 | ENST00000344730 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000395146 | ENST00000367623 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000395146 | ENST00000392043 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000395146 | ENST00000408940 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000395146 | ENST00000504405 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000395146 | ENST00000507173 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000395146 | ENST00000511413 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000395146 | ENST00000512653 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000544085 | ENST00000344730 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000544085 | ENST00000367623 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000544085 | ENST00000392043 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000544085 | ENST00000408940 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000544085 | ENST00000504405 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000544085 | ENST00000507173 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000544085 | ENST00000511413 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
5CDS-intron | ENST00000544085 | ENST00000512653 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
Frame-shift | ENST00000307808 | ENST00000502732 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
Frame-shift | ENST00000395146 | ENST00000502732 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
Frame-shift | ENST00000544085 | ENST00000502732 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
intron-3CDS | ENST00000511996 | ENST00000502732 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
intron-intron | ENST00000511996 | ENST00000344730 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
intron-intron | ENST00000511996 | ENST00000367623 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
intron-intron | ENST00000511996 | ENST00000392043 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
intron-intron | ENST00000511996 | ENST00000408940 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
intron-intron | ENST00000511996 | ENST00000504405 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
intron-intron | ENST00000511996 | ENST00000507173 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
intron-intron | ENST00000511996 | ENST00000511413 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
intron-intron | ENST00000511996 | ENST00000512653 | AFF1 | chr4 | 88016121 | + | ABL2 | chr1 | 179102509 | - |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for AFF1-ABL2 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for AFF1-ABL2 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:88016121/:179102509) - 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. |
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Hgene | Tgene |
AFF1 | ABL2 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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Fusion Gene Sequence for AFF1-ABL2 |
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Fusion Gene PPI Analysis for AFF1-ABL2 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for AFF1-ABL2 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | ABL2 | P42684 | DB01254 | Dasatinib | Multitarget | Small molecule | Approved|Investigational |
Tgene | ABL2 | P42684 | DB01254 | Dasatinib | Multitarget | Small molecule | Approved|Investigational |
Tgene | ABL2 | P42684 | DB01254 | Dasatinib | Multitarget | Small molecule | Approved|Investigational |
Tgene | ABL2 | P42684 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | ABL2 | P42684 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | ABL2 | P42684 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for AFF1-ABL2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |