|
||||||
|
 | 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:KAT7-AXIN2 (FusionGDB2 ID:41248) |
Fusion Gene Summary for KAT7-AXIN2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: KAT7-AXIN2 | Fusion gene ID: 41248 | Hgene | Tgene | Gene symbol | KAT7 | AXIN2 | Gene ID | 11143 | 8313 |
| Gene name | lysine acetyltransferase 7 | axin 2 | |
| Synonyms | HBO1|HBOA|MYST2|ZC2HC7 | AXIL|ODCRCS | |
| Cytomap | 17q21.33 | 17q24.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | histone acetyltransferase KAT7K(lysine) acetyltransferase 7MOZ, YBF2/SAS3, SAS2 and TIP60 protein 2MYST histone acetyltransferase 2histone acetyltransferase MYST2histone acetyltransferase binding to ORC1 | axin-2axin-like proteinaxis inhibition protein 2conductin | |
| Modification date | 20200327 | 20200313 | |
| UniProtAcc | O95251 | Q9Y2T1 | |
| Ensembl transtripts involved in fusion gene | ENST00000259021, ENST00000424009, ENST00000454930, ENST00000509773, ENST00000510819, ENST00000435742, ENST00000503935, ENST00000513980, | ENST00000307078, ENST00000375702, | |
| Fusion gene scores | * DoF score | 5 X 4 X 4=80 | 6 X 4 X 2=48 |
| # samples | 7 | 6 | |
| ** MAII score | log2(7/80*10)=-0.192645077942396 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/48*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: KAT7 [Title/Abstract] AND AXIN2 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | KAT7(47869395)-AXIN2(63554854), # samples:3 | ||
| 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | KAT7 | GO:0006260 | DNA replication | 16387653 |
| Hgene | KAT7 | GO:0018393 | internal peptidyl-lysine acetylation | 26221039 |
| Hgene | KAT7 | GO:0031098 | stress-activated protein kinase signaling cascade | 21856198 |
| Hgene | KAT7 | GO:0043966 | histone H3 acetylation | 16387653 |
| Hgene | KAT7 | GO:0043981 | histone H4-K5 acetylation | 16387653 |
| Hgene | KAT7 | GO:0043982 | histone H4-K8 acetylation | 16387653 |
| Hgene | KAT7 | GO:0043983 | histone H4-K12 acetylation | 16387653 |
| Hgene | KAT7 | GO:0043984 | histone H4-K16 acetylation | 16387653 |
| Hgene | KAT7 | GO:1900182 | positive regulation of protein localization to nucleus | 24739512 |
| Tgene | AXIN2 | GO:0034613 | cellular protein localization | 17072303 |
| Tgene | AXIN2 | GO:0090090 | negative regulation of canonical Wnt signaling pathway | 11940574 |
| Fusion gene breakpoints across KAT7 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| Fusion gene breakpoints across AXIN2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
| 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. |
| Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChimerDB4 | BRCA | TCGA-A8-A076-01A | KAT7 | chr17 | 47869395 | - | AXIN2 | chr17 | 63554854 | - |
| ChimerDB4 | BRCA | TCGA-A8-A076-01A | KAT7 | chr17 | 47869395 | + | AXIN2 | chr17 | 63554854 | - |
Top |
Fusion Gene ORF analysis for KAT7-AXIN2 |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| 5CDS-5UTR | ENST00000259021 | ENST00000307078 | KAT7 | chr17 | 47869395 | + | AXIN2 | chr17 | 63554854 | - |
| 5CDS-5UTR | ENST00000424009 | ENST00000307078 | KAT7 | chr17 | 47869395 | + | AXIN2 | chr17 | 63554854 | - |
| 5CDS-5UTR | ENST00000454930 | ENST00000307078 | KAT7 | chr17 | 47869395 | + | AXIN2 | chr17 | 63554854 | - |
| 5CDS-5UTR | ENST00000509773 | ENST00000307078 | KAT7 | chr17 | 47869395 | + | AXIN2 | chr17 | 63554854 | - |
| 5CDS-5UTR | ENST00000510819 | ENST00000307078 | KAT7 | chr17 | 47869395 | + | AXIN2 | chr17 | 63554854 | - |
| 5CDS-intron | ENST00000259021 | ENST00000375702 | KAT7 | chr17 | 47869395 | + | AXIN2 | chr17 | 63554854 | - |
| 5CDS-intron | ENST00000424009 | ENST00000375702 | KAT7 | chr17 | 47869395 | + | AXIN2 | chr17 | 63554854 | - |
| 5CDS-intron | ENST00000454930 | ENST00000375702 | KAT7 | chr17 | 47869395 | + | AXIN2 | chr17 | 63554854 | - |
| 5CDS-intron | ENST00000509773 | ENST00000375702 | KAT7 | chr17 | 47869395 | + | AXIN2 | chr17 | 63554854 | - |
| 5CDS-intron | ENST00000510819 | ENST00000375702 | KAT7 | chr17 | 47869395 | + | AXIN2 | chr17 | 63554854 | - |
| 5UTR-5UTR | ENST00000435742 | ENST00000307078 | KAT7 | chr17 | 47869395 | + | AXIN2 | chr17 | 63554854 | - |
| 5UTR-5UTR | ENST00000503935 | ENST00000307078 | KAT7 | chr17 | 47869395 | + | AXIN2 | chr17 | 63554854 | - |
| 5UTR-intron | ENST00000435742 | ENST00000375702 | KAT7 | chr17 | 47869395 | + | AXIN2 | chr17 | 63554854 | - |
| 5UTR-intron | ENST00000503935 | ENST00000375702 | KAT7 | chr17 | 47869395 | + | AXIN2 | chr17 | 63554854 | - |
| intron-5UTR | ENST00000513980 | ENST00000307078 | KAT7 | chr17 | 47869395 | + | AXIN2 | chr17 | 63554854 | - |
| intron-intron | ENST00000513980 | ENST00000375702 | KAT7 | chr17 | 47869395 | + | AXIN2 | chr17 | 63554854 | - |
| ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
| 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) |
| DeepORF 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. |
| Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
Top |
Fusion Genomic Features for KAT7-AXIN2 |
| FusionAI 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. |
| Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
| Distribution 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. |
| Distribution 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. |
Top |
Fusion Protein Features for KAT7-AXIN2 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:47869395/:63554854) - 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. |
 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| KAT7 | AXIN2 |
| FUNCTION: Catalytic subunit of histone acetyltransferase HBO1 complexes, which specifically mediate acetylation of histone H3 at 'Lys-14' (H3K14ac), thereby regulating various processes, such as gene transcription, protein ubiquitination, immune regulation, stem cell pluripotent and self-renewal maintenance and embryonic development (PubMed:16387653, PubMed:21753189, PubMed:24065767, PubMed:26620551, PubMed:31767635, PubMed:31827282). Some complexes also catalyze acetylation of histone H4 at 'Lys-5', 'Lys-8' and 'Lys-12' (H4K5ac, H4K8ac and H4K12ac, respectively), regulating DNA replication initiation, regulating DNA replication initiation (PubMed:10438470, PubMed:19187766, PubMed:20129055, PubMed:24065767). Specificity of the HBO1 complexes is determined by the scaffold subunit: complexes containing BRPF scaffold (BRPF1, BRD1/BRPF2 or BRPF3) direct KAT7/HBO1 specificity towards H3K14ac, while complexes containing JADE (JADE1, JADE2 and JADE3) scaffold direct KAT7/HBO1 specificity towards histone H4 (PubMed:19187766, PubMed:20129055, PubMed:24065767, PubMed:26620551). H3K14ac promotes transcriptional elongation by facilitating the processivity of RNA polymerase II (PubMed:31827282). Acts as a key regulator of hematopoiesis by forming a complex with BRD1/BRPF2, directing KAT7/HBO1 specificity towards H3K14ac and promoting erythroid differentiation (PubMed:21753189). H3K14ac is also required for T-cell development (By similarity). KAT7/HBO1-mediated acetylation facilitates two consecutive steps, licensing and activation, in DNA replication initiation: H3K14ac facilitates the activation of replication origins, and histone H4 acetylation (H4K5ac, H4K8ac and H4K12ac) facilitates chromatin loading of MCM complexes, promoting DNA replication licensing (PubMed:10438470, PubMed:11278932, PubMed:18832067, PubMed:19187766, PubMed:20129055, PubMed:21856198, PubMed:24065767, PubMed:26620551). Acts as a positive regulator of centromeric CENPA assembly: recruited to centromeres and mediates histone acetylation, thereby preventing centromere inactivation mediated by SUV39H1, possibly by increasing histone turnover/exchange (PubMed:27270040). Involved in nucleotide excision repair: phosphorylation by ATR in response to ultraviolet irradiation promotes its localization to DNA damage sites, where it mediates histone acetylation to facilitate recruitment of XPC at the damaged DNA sites (PubMed:28719581). Acts as an inhibitor of NF-kappa-B independently of its histone acetyltransferase activity (PubMed:16997280). {ECO:0000250|UniProtKB:Q5SVQ0, ECO:0000269|PubMed:10438470, ECO:0000269|PubMed:11278932, ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:16997280, ECO:0000269|PubMed:18832067, ECO:0000269|PubMed:19187766, ECO:0000269|PubMed:20129055, ECO:0000269|PubMed:21753189, ECO:0000269|PubMed:21856198, ECO:0000269|PubMed:24065767, ECO:0000269|PubMed:26620551, ECO:0000269|PubMed:27270040, ECO:0000269|PubMed:28719581, ECO:0000269|PubMed:31767635, ECO:0000269|PubMed:31827282}.; FUNCTION: Plays a central role in the maintenance of leukemia stem cells in acute myeloid leukemia (AML) (PubMed:31827282). Acts by mediating acetylation of histone H3 at 'Lys-14' (H3K14ac), thereby facilitating the processivity of RNA polymerase II to maintain the high expression of key genes, such as HOXA9 and HOXA10 that help to sustain the functional properties of leukemia stem cells (PubMed:31827282). {ECO:0000269|PubMed:31827282}. | FUNCTION: Inhibitor of the Wnt signaling pathway. Down-regulates beta-catenin. Probably facilitate the phosphorylation of beta-catenin and APC by GSK3B. {ECO:0000250|UniProtKB:O15169}. |
| Retention 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 * 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 |
Top |
Fusion Gene Sequence for KAT7-AXIN2 |
| 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. |
Top |
Fusion Gene PPI Analysis for KAT7-AXIN2 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for KAT7-AXIN2 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for KAT7-AXIN2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2021-Present -The University of Texas Health Science Center at Houston (UTHealth)
Web File Viewing | Emergency Information |Campus Carry|Site Policies