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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:AFF3-KMT2A (FusionGDB2 ID:HG3899TG4297) |
Fusion Gene Summary for AFF3-KMT2A |
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Fusion gene information | Fusion gene name: AFF3-KMT2A | Fusion gene ID: hg3899tg4297 | Hgene | Tgene | Gene symbol | AFF3 | KMT2A | Gene ID | 3899 | 4297 |
Gene name | AF4/FMR2 family member 3 | lysine methyltransferase 2A | |
Synonyms | LAF4|MLLT2-like | ALL-1|CXXC7|HRX|HTRX1|MLL|MLL1|MLL1A|TRX1|WDSTS | |
Cytomap | ('AFF3')('KMT2A') 2q11.2 | 11q23.3 | |
Type of gene | protein-coding | protein-coding | |
Description | AF4/FMR2 family member 3MLLT2-related proteinlymphoid nuclear protein 4lymphoid nuclear protein related to AF4protein LAF-4 | histone-lysine N-methyltransferase 2ACXXC-type zinc finger protein 7lysine (K)-specific methyltransferase 2Alysine N-methyltransferase 2Amixed lineage leukemia 1myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)trithorax-like | |
Modification date | 20200313 | 20200319 | |
UniProtAcc | P51826 | Q03164 | |
Ensembl transtripts involved in fusion gene | ENST00000317233, ENST00000356421, ENST00000409236, ENST00000409579, ENST00000483600, | ENST00000317233, ENST00000356421, ENST00000409236, ENST00000409579, ENST00000483600, | |
Fusion gene scores | * DoF score | 17 X 13 X 7=1547 | 31 X 72 X 3=6696 |
# samples | 17 | 79 | |
** MAII score | log2(17/1547*10)=-3.18586654531133 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(79/6696*10)=-3.08337496948588 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: AFF3 [Title/Abstract] AND KMT2A [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | |||
Anticipated loss of major functional domain due to fusion event. | KMT2A-AFF3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. KMT2A-AFF3 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor by not retaining the major functional domain in the partially deleted in-frame ORF. KMT2A-AFF3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. KMT2A-AFF3 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target by not retaining the major functional domain in the partially deleted in-frame ORF. KMT2A-AFF3 seems lost the major protein functional domain in Hgene partner, which is a transcription factor by not retaining the major functional domain in the partially deleted in-frame ORF. AFF3-KMT2A seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. AFF3-KMT2A seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. AFF3-KMT2A seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. AFF3-KMT2A seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF. AFF3-KMT2A seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. AFF3-KMT2A seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. AFF3-KMT2A seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF. KMT2A-AFF3 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. KMT2A-AFF3 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. KMT2A-AFF3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. KMT2A-AFF3 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. KMT2A-AFF3 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. KMT2A-AFF3 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. KMT2A-AFF3 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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 | KMT2A | GO:0044648 | histone H3-K4 dimethylation | 25561738 |
Tgene | KMT2A | GO:0045944 | positive regulation of transcription by RNA polymerase II | 20861184 |
Tgene | KMT2A | GO:0051568 | histone H3-K4 methylation | 19556245 |
Tgene | KMT2A | GO:0065003 | protein-containing complex assembly | 15199122 |
Tgene | KMT2A | GO:0080182 | histone H3-K4 trimethylation | 20861184 |
Tgene | KMT2A | GO:0097692 | histone H3-K4 monomethylation | 25561738|26324722 |
![]() * 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 |
ChimerKB3 | . | . | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
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Fusion Gene ORF analysis for AFF3-KMT2A |
![]() * 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-3UTR | ENST00000317233 | ENST00000420751 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
5CDS-3UTR | ENST00000356421 | ENST00000420751 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
5CDS-3UTR | ENST00000409236 | ENST00000420751 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
5CDS-3UTR | ENST00000409579 | ENST00000420751 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
Frame-shift | ENST00000317233 | ENST00000354520 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
Frame-shift | ENST00000317233 | ENST00000389506 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
Frame-shift | ENST00000317233 | ENST00000534358 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
Frame-shift | ENST00000356421 | ENST00000354520 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
Frame-shift | ENST00000356421 | ENST00000389506 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
Frame-shift | ENST00000356421 | ENST00000534358 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
Frame-shift | ENST00000409236 | ENST00000354520 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
Frame-shift | ENST00000409236 | ENST00000389506 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
Frame-shift | ENST00000409236 | ENST00000534358 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
Frame-shift | ENST00000409579 | ENST00000354520 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
Frame-shift | ENST00000409579 | ENST00000389506 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
Frame-shift | ENST00000409579 | ENST00000534358 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
intron-3CDS | ENST00000483600 | ENST00000354520 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
intron-3CDS | ENST00000483600 | ENST00000389506 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
intron-3CDS | ENST00000483600 | ENST00000534358 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
intron-3UTR | ENST00000483600 | ENST00000420751 | AFF3 | chr2 | 100368682 | - | KMT2A | chr11 | 118354897 | + |
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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 AFF3-KMT2A |
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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 AFF3-KMT2A |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:/:) - 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 |
AFF3 | KMT2A |
FUNCTION: Putative transcription activator that may function in lymphoid development and oncogenesis. Binds, in vitro, to double-stranded DNA. | FUNCTION: Histone methyltransferase that plays an essential role in early development and hematopoiesis (PubMed:15960975, PubMed:12453419, PubMed:15960975, PubMed:19556245, PubMed:19187761, PubMed:20677832, PubMed:21220120, PubMed:26886794). Catalytic subunit of the MLL1/MLL complex, a multiprotein complex that mediates both methylation of 'Lys-4' of histone H3 (H3K4me) complex and acetylation of 'Lys-16' of histone H4 (H4K16ac) (PubMed:15960975, PubMed:12453419, PubMed:15960975, PubMed:19556245, PubMed:24235145, PubMed:19187761, PubMed:20677832, PubMed:21220120, PubMed:26886794). Catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) via a non-processive mechanism. Part of chromatin remodeling machinery predominantly forms H3K4me1 and H3K4me2 methylation marks at active chromatin sites where transcription and DNA repair take place (PubMed:25561738, PubMed:15960975, PubMed:12453419, PubMed:15960975, PubMed:19556245, PubMed:19187761, PubMed:20677832, PubMed:21220120, PubMed:26886794). Has weak methyltransferase activity by itself, and requires other component of the MLL1/MLL complex to obtain full methyltransferase activity (PubMed:19187761, PubMed:26886794). Has no activity toward histone H3 phosphorylated on 'Thr-3', less activity toward H3 dimethylated on 'Arg-8' or 'Lys-9', while it has higher activity toward H3 acetylated on 'Lys-9' (PubMed:19187761). Binds to unmethylated CpG elements in the promoter of target genes and helps maintain them in the nonmethylated state (PubMed:20010842). Required for transcriptional activation of HOXA9 (PubMed:12453419, PubMed:20677832, PubMed:20010842). Promotes PPP1R15A-induced apoptosis (PubMed:10490642). Plays a critical role in the control of circadian gene expression and is essential for the transcriptional activation mediated by the CLOCK-ARNTL/BMAL1 heterodimer (By similarity). Establishes a permissive chromatin state for circadian transcription by mediating a rhythmic methylation of 'Lys-4' of histone H3 (H3K4me) and this histone modification directs the circadian acetylation at H3K9 and H3K14 allowing the recruitment of CLOCK-ARNTL/BMAL1 to chromatin (By similarity). Also has auto-methylation activity on Cys-3882 in absence of histone H3 substrate (PubMed:24235145). {ECO:0000250|UniProtKB:P55200, ECO:0000269|PubMed:10490642, ECO:0000269|PubMed:12453419, ECO:0000269|PubMed:15960975, ECO:0000269|PubMed:19187761, ECO:0000269|PubMed:19556245, ECO:0000269|PubMed:20010842, ECO:0000269|PubMed:21220120, ECO:0000269|PubMed:24235145, ECO:0000269|PubMed:26886794, ECO:0000305|PubMed:20677832}. |
![]() * 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 AFF3-KMT2A |
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Fusion Gene PPI Analysis for AFF3-KMT2A |
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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 AFF3-KMT2A |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for AFF3-KMT2A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | AFF3 | C0003873 | Rheumatoid Arthritis | 2 | CTD_human |
Hgene | AFF3 | C0013146 | Drug abuse | 1 | CTD_human |
Hgene | AFF3 | C0013170 | Drug habituation | 1 | CTD_human |
Hgene | AFF3 | C0013222 | Drug Use Disorders | 1 | CTD_human |
Hgene | AFF3 | C0029231 | Organic Mental Disorders, Substance-Induced | 1 | CTD_human |
Hgene | AFF3 | C0036572 | Seizures | 1 | GENOMICS_ENGLAND |
Hgene | AFF3 | C0038580 | Substance Dependence | 1 | CTD_human |
Hgene | AFF3 | C0038586 | Substance Use Disorders | 1 | CTD_human |
Hgene | AFF3 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
Hgene | AFF3 | C0740858 | Substance abuse problem | 1 | CTD_human |
Hgene | AFF3 | C1510472 | Drug Dependence | 1 | CTD_human |
Hgene | AFF3 | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |
Hgene | AFF3 | C4316881 | Prescription Drug Abuse | 1 | CTD_human |
Tgene | C2826025 | Mixed phenotype acute leukemia | 3 | ORPHANET | |
Tgene | C0023418 | leukemia | 2 | CTD_human | |
Tgene | C0023452 | Childhood Acute Lymphoblastic Leukemia | 2 | CTD_human | |
Tgene | C0023453 | L2 Acute Lymphoblastic Leukemia | 2 | CTD_human | |
Tgene | C0023466 | Leukemia, Monocytic, Chronic | 2 | CTD_human | |
Tgene | C0023467 | Leukemia, Myelocytic, Acute | 2 | CTD_human | |
Tgene | C0023470 | Myeloid Leukemia | 2 | CTD_human | |
Tgene | C0026998 | Acute Myeloid Leukemia, M1 | 2 | CTD_human | |
Tgene | C1854630 | Growth Deficiency and Mental Retardation with Facial Dysmorphism | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C1879321 | Acute Myeloid Leukemia (AML-M2) | 2 | CTD_human | |
Tgene | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 2 | CTD_human | |
Tgene | C0001418 | Adenocarcinoma | 1 | CTD_human | |
Tgene | C0004403 | Autosome Abnormalities | 1 | CTD_human | |
Tgene | C0005684 | Malignant neoplasm of urinary bladder | 1 | CTD_human | |
Tgene | C0005695 | Bladder Neoplasm | 1 | CTD_human | |
Tgene | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human | |
Tgene | C0008625 | Chromosome Aberrations | 1 | CTD_human | |
Tgene | C0023448 | Lymphoid leukemia | 1 | CTD_human | |
Tgene | C0023465 | Acute monocytic leukemia | 1 | CTD_human | |
Tgene | C0023479 | Acute myelomonocytic leukemia | 1 | CTD_human | |
Tgene | C0024623 | Malignant neoplasm of stomach | 1 | CTD_human | |
Tgene | C0033578 | Prostatic Neoplasms | 1 | CTD_human | |
Tgene | C0036341 | Schizophrenia | 1 | PSYGENET | |
Tgene | C0038356 | Stomach Neoplasms | 1 | CTD_human | |
Tgene | C0149925 | Small cell carcinoma of lung | 1 | CTD_human | |
Tgene | C0205641 | Adenocarcinoma, Basal Cell | 1 | CTD_human | |
Tgene | C0205642 | Adenocarcinoma, Oxyphilic | 1 | CTD_human | |
Tgene | C0205643 | Carcinoma, Cribriform | 1 | CTD_human | |
Tgene | C0205644 | Carcinoma, Granular Cell | 1 | CTD_human | |
Tgene | C0205645 | Adenocarcinoma, Tubular | 1 | CTD_human | |
Tgene | C0270972 | Cornelia De Lange Syndrome | 1 | ORPHANET | |
Tgene | C0280141 | Acute Undifferentiated Leukemia | 1 | ORPHANET | |
Tgene | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human | |
Tgene | C0856823 | Undifferentiated type acute leukemia | 1 | ORPHANET | |
Tgene | C1535926 | Neurodevelopmental Disorders | 1 | CTD_human | |
Tgene | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human | |
Tgene | C2239176 | Liver carcinoma | 1 | CTD_human | |
Tgene | C2930974 | Acute erythroleukemia | 1 | CTD_human | |
Tgene | C2930975 | Acute erythroleukemia - M6a subtype | 1 | CTD_human | |
Tgene | C2930976 | Acute myeloid leukemia FAB-M6 | 1 | CTD_human | |
Tgene | C2930977 | Acute erythroleukemia - M6b subtype | 1 | CTD_human |