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Fusion Protein:KAT6A-ASXL2 |
Fusion Protein Summary |
Fusion gene summary |
Fusion partner gene information | Fusion gene name: KAT6A-ASXL2 | FusionPDB ID: 41198 | FusionGDB2.0 ID: 41198 | Hgene | Tgene | Gene symbol | KAT6A | ASXL2 | Gene ID | 7994 | 55252 |
Gene name | lysine acetyltransferase 6A | ASXL transcriptional regulator 2 | |
Synonyms | ARTHS|MOZ|MRD32|MYST-3|MYST3|RUNXBP2|ZC2HC6A|ZNF220 | ASXH2|SHAPNS | |
Cytomap | 8p11.21 | 2p23.3 | |
Type of gene | protein-coding | protein-coding | |
Description | histone acetyltransferase KAT6AK(lysine) acetyltransferase 6AMOZ, YBF2/SAS3, SAS2 and TIP60 protein 3MYST histone acetyltransferase (monocytic leukemia) 3histone acetyltransferase MYST3monocytic leukemia zinc finger proteinrunt-related transcription | putative Polycomb group protein ASXL2additional sex combs like 2, transcriptional regulatoradditional sex combs-like protein 2polycomb group protein ASXH2 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q92794 | Q76L83 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000265713, ENST00000396930, ENST00000406337, ENST00000485568, | ENST00000272341, ENST00000336112, ENST00000404843, ENST00000497092, ENST00000435504, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 26 X 32 X 13=10816 | 11 X 14 X 8=1232 |
# samples | 42 | 16 | |
** MAII score | log2(42/10816*10)=-4.68663391861606 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/1232*10)=-2.94485844580754 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: KAT6A [Title/Abstract] AND ASXL2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | KAT6A(41909478)-ASXL2(25962260), # samples:1 KAT6A(41800309)-ASXL2(26068436), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | KAT6A-ASXL2 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. KAT6A-ASXL2 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. KAT6A-ASXL2 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. KAT6A-ASXL2 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. KAT6A-ASXL2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. KAT6A-ASXL2 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. KAT6A-ASXL2 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. KAT6A-ASXL2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. KAT6A-ASXL2 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. KAT6A-ASXL2 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF. KAT6A-ASXL2 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) |
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 | KAT6A | GO:0006473 | protein acetylation | 23431171 |
Hgene | KAT6A | GO:0016573 | histone acetylation | 11742995|17925393 |
Hgene | KAT6A | GO:0030099 | myeloid cell differentiation | 11742995 |
Hgene | KAT6A | GO:0043966 | histone H3 acetylation | 16387653 |
Hgene | KAT6A | GO:0045892 | negative regulation of transcription, DNA-templated | 11742995 |
Hgene | KAT6A | GO:0045893 | positive regulation of transcription, DNA-templated | 11742995|11965546|18794358 |
Tgene | ASXL2 | GO:0035360 | positive regulation of peroxisome proliferator activated receptor signaling pathway | 21047783 |
Tgene | ASXL2 | GO:0045600 | positive regulation of fat cell differentiation | 21047783 |
Tgene | ASXL2 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 21047783 |
Fusion gene breakpoints across KAT6A (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 ASXL2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
Fusion gene information from FusionGDB2.0. |
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 | myelodysplastic syndrome | AB084281 | KAT6A | chr8 | 41909478 | ASXL2 | chr2 | 25962260 | ||
ChimerKB3 | . | . | KAT6A | chr8 | 41800310 | ASXL2 | chr2 | 26068432 | - | |
ChiTaRS5.0 | N/A | AB084281 | KAT6A | chr8 | 41800309 | - | ASXL2 | chr2 | 26068436 | - |
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Fusion ORF Analysis |
Fusion information from ORFfinder translation from full-length transcript sequence from FusionPDB. |
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) |
ENST00000265713 | KAT6A | chr8 | 41800310 | ENST00000435504 | ASXL2 | chr2 | 26068432 | - | 15375 | 2848 | 412 | 7098 | 2228 | |
ENST00000396930 | KAT6A | chr8 | 41800310 | ENST00000435504 | ASXL2 | chr2 | 26068432 | - | 15507 | 2980 | 544 | 7230 | 2228 | |
ENST00000265713 | KAT6A | chr8 | 41800309 | - | ENST00000435504 | ASXL2 | chr2 | 26068436 | - | 15375 | 2848 | 412 | 7098 | 2228 |
ENST00000396930 | KAT6A | chr8 | 41800309 | - | ENST00000435504 | ASXL2 | chr2 | 26068436 | - | 15507 | 2980 | 544 | 7230 | 2228 |
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 |
ENST00000265713 | ENST00000435504 | KAT6A | chr8 | 41800309 | - | ASXL2 | chr2 | 26068436 | - | 0.000205858 | 0.9997942 |
ENST00000396930 | ENST00000435504 | KAT6A | chr8 | 41800309 | - | ASXL2 | chr2 | 26068436 | - | 0.000241446 | 0.99975854 |
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Fusion Amino Acid Sequences |
For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >41198_41198_1_KAT6A-ASXL2_KAT6A_chr8_41800309_ENST00000265713_ASXL2_chr2_26068436_ENST00000435504_length(amino acids)=2228AA_BP=812 MVKLANPLYTEWILEAIKKVKKQKQRPSEERICNAVSSSHGLDRKTVLEQLELSVKDGTILKVSNKGLNSYKDPDNPGRIALPKPRNHGK LDNKQNVDWNKLIKRAVEGLAESGGSTLKSIERFLKGQKDVSALFGGSAASGFHQQLRLAIKRAIGHGRLLKDGPLYRLNTKATNVDGKE SCESLSCLPPVSLLPHEKDKPVAEPIPICSFCLGTKEQNREKKPEELISCADCGNSGHPSCLKFSPELTVRVKALRWQCIECKTCSSCRD QGKNADNMLFCDSCDRGFHMECCDPPLTRMPKGMWICQICRPRKKGRKLLQKKAAQIKRRYTNPIGRPKNRLKKQNTVSKGPFSKVRTGP GRGRKRKITLSSQSASSSSEEGYLERIDGLDFCRDSNVSLKFNKKTKGLIDGLTKFFTPSPDGRKARGEVVDYSEQYRIRKRGNRKSSTS DWPTDNQDGWDGKQENEERLFGSQEIMTEKDMELFRDIQEQALQKVGVTGPPDPQVRCPSVIEFGKYEIHTWYSSPYPQEYSRLPKLYLC EFCLKYMKSRTILQQHMKKCGWFHPPANEIYRKNNISVFEVDGNVSTIYCQNLCLLAKLFLDHKTLYYDVEPFLFYVLTQNDVKGCHLVG YFSKEKHCQQKYNVSCIMILPQYQRKGYGRFLIDFSYLLSKREGQAGSPEKPLSDLGRLSYMAYWKSVILECLYHQNDKQISIKKLSKLT GICPQDITSTLHHLRMLDFRSDQFVIIRREKLIQDHMAKLQLNLRPVDVDPECLRWTPVIVSNSVVSEEEEEEAEEGENEEPQCQERELE ISVLEKYPNTPMSHKEILQVIQREGLKEIRSGTSPLACLNAMLHTNSRGEEGIFYKVPGRMGVYTLKKDVPDGVKELSEGSEESSDGQSD SQSSENSSSSSDGGSNKEGKKSRWKRKVSSSSPQSGCPSPTIPAGKVISPSQKHSKKALKQALKQQQQKKQQQQCRPSISISSNQHLSLK TVKAASDSVPAKPATWEGKQSDGQTGSPQNSNSSFSSSVKVENTLLGLGKKSFQRSERLHTRQMKRTKCADIDVETPDSILVNTNLRALI NKHTFSVLPGDCQQRLLLLLPEVDRQVGPDGLMKLNGSALNNEFFTSAAQGWKERLSEGEFTPEMQVRIRQEIEKEKKVEPWKEQFFESY YGQSSGLSLEDSKKLTASPSDPKVKKTPAEQPKSMPVSEASLIRIVPVVSQSECKEEALQMSSPGRKEECESQGEVQPNFSTSSEPLLSS ALNTHELSSILPIKCPKDEDLLEQKPVTSAEQESEKNHLTTASNYNKSESQESLVTSPSKPKSPGVEKPIVKPTAGAGPQETNMKEPLAT LVDQSPESLKRKSSLTQEEAPVSWEKRPRVTENRQHQQPFQVSPQPFLNRGDRIQVRKVPPLKIPVSRISPMPFHPSQVSPRARFPVSIT SPNRTGARTLADIKAKAQLVKAQRAAAAAAAAAAAAASVGGTIPGPGPGGGQGPGEGGEGQTARGGSPGSDRVSETGKGPTLELAGTGSR GGTRELLPCGPETQPQSETKTTPSQAQPHSVSGAQLQQTPPVPPTPAVSGACTSVPSPAHIEKLDNEKLNPTRATATVASVSHPQGPSSC RQEKAPSPTGPALISGASPVHCAADGTVELKAGPSKNIPNPSASSKTDASVPVAVTPSPLTSLLTTATLEKLPVPQVSATTAPAGSAPPS STLPAASSLKTPGTSLNMNGPTLRPTSSIPANNPLVTQLLQGKDVPMEQILPKPLTKVEMKTVPLTAKEERGMGALIATNTTENSTREEV NERQSHPATQQQLGKTLQSKQLPQVPRPLQLFSAKELRDSSIDTHQYHEGLSKATQDQILQTLIQRVRRQNLLSVVPPSQFNFAHSGFQL EDISTSQRFMLGFAGRRTSKPAMAGHYLLNISTYGRGSESFRRTHSVNPEDRFCLSSPTEALKMGYTDCKNATGESSSSKEDDTDEESTG DEQESVTVKEEPQVSQSAGKGDTSSGPHSRETLSTSDCLASKNVKAEIPLNEQTTLSKENYLFTRGQTFDEKTLARDLIQAAQKQMAHAV RGKAIRSSPELFSSTVLPLPADSPTHQPLLLPPLQTPKLYGSPTQIGPSYRGMINVSTSSDMDHNSAVPGSQVSSNVGDVMSFSVTVTTI -------------------------------------------------------------- >41198_41198_2_KAT6A-ASXL2_KAT6A_chr8_41800309_ENST00000396930_ASXL2_chr2_26068436_ENST00000435504_length(amino acids)=2228AA_BP=812 MVKLANPLYTEWILEAIKKVKKQKQRPSEERICNAVSSSHGLDRKTVLEQLELSVKDGTILKVSNKGLNSYKDPDNPGRIALPKPRNHGK LDNKQNVDWNKLIKRAVEGLAESGGSTLKSIERFLKGQKDVSALFGGSAASGFHQQLRLAIKRAIGHGRLLKDGPLYRLNTKATNVDGKE SCESLSCLPPVSLLPHEKDKPVAEPIPICSFCLGTKEQNREKKPEELISCADCGNSGHPSCLKFSPELTVRVKALRWQCIECKTCSSCRD QGKNADNMLFCDSCDRGFHMECCDPPLTRMPKGMWICQICRPRKKGRKLLQKKAAQIKRRYTNPIGRPKNRLKKQNTVSKGPFSKVRTGP GRGRKRKITLSSQSASSSSEEGYLERIDGLDFCRDSNVSLKFNKKTKGLIDGLTKFFTPSPDGRKARGEVVDYSEQYRIRKRGNRKSSTS DWPTDNQDGWDGKQENEERLFGSQEIMTEKDMELFRDIQEQALQKVGVTGPPDPQVRCPSVIEFGKYEIHTWYSSPYPQEYSRLPKLYLC EFCLKYMKSRTILQQHMKKCGWFHPPANEIYRKNNISVFEVDGNVSTIYCQNLCLLAKLFLDHKTLYYDVEPFLFYVLTQNDVKGCHLVG YFSKEKHCQQKYNVSCIMILPQYQRKGYGRFLIDFSYLLSKREGQAGSPEKPLSDLGRLSYMAYWKSVILECLYHQNDKQISIKKLSKLT GICPQDITSTLHHLRMLDFRSDQFVIIRREKLIQDHMAKLQLNLRPVDVDPECLRWTPVIVSNSVVSEEEEEEAEEGENEEPQCQERELE ISVLEKYPNTPMSHKEILQVIQREGLKEIRSGTSPLACLNAMLHTNSRGEEGIFYKVPGRMGVYTLKKDVPDGVKELSEGSEESSDGQSD SQSSENSSSSSDGGSNKEGKKSRWKRKVSSSSPQSGCPSPTIPAGKVISPSQKHSKKALKQALKQQQQKKQQQQCRPSISISSNQHLSLK TVKAASDSVPAKPATWEGKQSDGQTGSPQNSNSSFSSSVKVENTLLGLGKKSFQRSERLHTRQMKRTKCADIDVETPDSILVNTNLRALI NKHTFSVLPGDCQQRLLLLLPEVDRQVGPDGLMKLNGSALNNEFFTSAAQGWKERLSEGEFTPEMQVRIRQEIEKEKKVEPWKEQFFESY YGQSSGLSLEDSKKLTASPSDPKVKKTPAEQPKSMPVSEASLIRIVPVVSQSECKEEALQMSSPGRKEECESQGEVQPNFSTSSEPLLSS ALNTHELSSILPIKCPKDEDLLEQKPVTSAEQESEKNHLTTASNYNKSESQESLVTSPSKPKSPGVEKPIVKPTAGAGPQETNMKEPLAT LVDQSPESLKRKSSLTQEEAPVSWEKRPRVTENRQHQQPFQVSPQPFLNRGDRIQVRKVPPLKIPVSRISPMPFHPSQVSPRARFPVSIT SPNRTGARTLADIKAKAQLVKAQRAAAAAAAAAAAAASVGGTIPGPGPGGGQGPGEGGEGQTARGGSPGSDRVSETGKGPTLELAGTGSR GGTRELLPCGPETQPQSETKTTPSQAQPHSVSGAQLQQTPPVPPTPAVSGACTSVPSPAHIEKLDNEKLNPTRATATVASVSHPQGPSSC RQEKAPSPTGPALISGASPVHCAADGTVELKAGPSKNIPNPSASSKTDASVPVAVTPSPLTSLLTTATLEKLPVPQVSATTAPAGSAPPS STLPAASSLKTPGTSLNMNGPTLRPTSSIPANNPLVTQLLQGKDVPMEQILPKPLTKVEMKTVPLTAKEERGMGALIATNTTENSTREEV NERQSHPATQQQLGKTLQSKQLPQVPRPLQLFSAKELRDSSIDTHQYHEGLSKATQDQILQTLIQRVRRQNLLSVVPPSQFNFAHSGFQL EDISTSQRFMLGFAGRRTSKPAMAGHYLLNISTYGRGSESFRRTHSVNPEDRFCLSSPTEALKMGYTDCKNATGESSSSKEDDTDEESTG DEQESVTVKEEPQVSQSAGKGDTSSGPHSRETLSTSDCLASKNVKAEIPLNEQTTLSKENYLFTRGQTFDEKTLARDLIQAAQKQMAHAV RGKAIRSSPELFSSTVLPLPADSPTHQPLLLPPLQTPKLYGSPTQIGPSYRGMINVSTSSDMDHNSAVPGSQVSSNVGDVMSFSVTVTTI -------------------------------------------------------------- >41198_41198_3_KAT6A-ASXL2_KAT6A_chr8_41800310_ENST00000265713_ASXL2_chr2_26068432_ENST00000435504_length(amino acids)=2228AA_BP=812 MVKLANPLYTEWILEAIKKVKKQKQRPSEERICNAVSSSHGLDRKTVLEQLELSVKDGTILKVSNKGLNSYKDPDNPGRIALPKPRNHGK LDNKQNVDWNKLIKRAVEGLAESGGSTLKSIERFLKGQKDVSALFGGSAASGFHQQLRLAIKRAIGHGRLLKDGPLYRLNTKATNVDGKE SCESLSCLPPVSLLPHEKDKPVAEPIPICSFCLGTKEQNREKKPEELISCADCGNSGHPSCLKFSPELTVRVKALRWQCIECKTCSSCRD QGKNADNMLFCDSCDRGFHMECCDPPLTRMPKGMWICQICRPRKKGRKLLQKKAAQIKRRYTNPIGRPKNRLKKQNTVSKGPFSKVRTGP GRGRKRKITLSSQSASSSSEEGYLERIDGLDFCRDSNVSLKFNKKTKGLIDGLTKFFTPSPDGRKARGEVVDYSEQYRIRKRGNRKSSTS DWPTDNQDGWDGKQENEERLFGSQEIMTEKDMELFRDIQEQALQKVGVTGPPDPQVRCPSVIEFGKYEIHTWYSSPYPQEYSRLPKLYLC EFCLKYMKSRTILQQHMKKCGWFHPPANEIYRKNNISVFEVDGNVSTIYCQNLCLLAKLFLDHKTLYYDVEPFLFYVLTQNDVKGCHLVG YFSKEKHCQQKYNVSCIMILPQYQRKGYGRFLIDFSYLLSKREGQAGSPEKPLSDLGRLSYMAYWKSVILECLYHQNDKQISIKKLSKLT GICPQDITSTLHHLRMLDFRSDQFVIIRREKLIQDHMAKLQLNLRPVDVDPECLRWTPVIVSNSVVSEEEEEEAEEGENEEPQCQERELE ISVLEKYPNTPMSHKEILQVIQREGLKEIRSGTSPLACLNAMLHTNSRGEEGIFYKVPGRMGVYTLKKDVPDGVKELSEGSEESSDGQSD SQSSENSSSSSDGGSNKEGKKSRWKRKVSSSSPQSGCPSPTIPAGKVISPSQKHSKKALKQALKQQQQKKQQQQCRPSISISSNQHLSLK TVKAASDSVPAKPATWEGKQSDGQTGSPQNSNSSFSSSVKVENTLLGLGKKSFQRSERLHTRQMKRTKCADIDVETPDSILVNTNLRALI NKHTFSVLPGDCQQRLLLLLPEVDRQVGPDGLMKLNGSALNNEFFTSAAQGWKERLSEGEFTPEMQVRIRQEIEKEKKVEPWKEQFFESY YGQSSGLSLEDSKKLTASPSDPKVKKTPAEQPKSMPVSEASLIRIVPVVSQSECKEEALQMSSPGRKEECESQGEVQPNFSTSSEPLLSS ALNTHELSSILPIKCPKDEDLLEQKPVTSAEQESEKNHLTTASNYNKSESQESLVTSPSKPKSPGVEKPIVKPTAGAGPQETNMKEPLAT LVDQSPESLKRKSSLTQEEAPVSWEKRPRVTENRQHQQPFQVSPQPFLNRGDRIQVRKVPPLKIPVSRISPMPFHPSQVSPRARFPVSIT SPNRTGARTLADIKAKAQLVKAQRAAAAAAAAAAAAASVGGTIPGPGPGGGQGPGEGGEGQTARGGSPGSDRVSETGKGPTLELAGTGSR GGTRELLPCGPETQPQSETKTTPSQAQPHSVSGAQLQQTPPVPPTPAVSGACTSVPSPAHIEKLDNEKLNPTRATATVASVSHPQGPSSC RQEKAPSPTGPALISGASPVHCAADGTVELKAGPSKNIPNPSASSKTDASVPVAVTPSPLTSLLTTATLEKLPVPQVSATTAPAGSAPPS STLPAASSLKTPGTSLNMNGPTLRPTSSIPANNPLVTQLLQGKDVPMEQILPKPLTKVEMKTVPLTAKEERGMGALIATNTTENSTREEV NERQSHPATQQQLGKTLQSKQLPQVPRPLQLFSAKELRDSSIDTHQYHEGLSKATQDQILQTLIQRVRRQNLLSVVPPSQFNFAHSGFQL EDISTSQRFMLGFAGRRTSKPAMAGHYLLNISTYGRGSESFRRTHSVNPEDRFCLSSPTEALKMGYTDCKNATGESSSSKEDDTDEESTG DEQESVTVKEEPQVSQSAGKGDTSSGPHSRETLSTSDCLASKNVKAEIPLNEQTTLSKENYLFTRGQTFDEKTLARDLIQAAQKQMAHAV RGKAIRSSPELFSSTVLPLPADSPTHQPLLLPPLQTPKLYGSPTQIGPSYRGMINVSTSSDMDHNSAVPGSQVSSNVGDVMSFSVTVTTI -------------------------------------------------------------- >41198_41198_4_KAT6A-ASXL2_KAT6A_chr8_41800310_ENST00000396930_ASXL2_chr2_26068432_ENST00000435504_length(amino acids)=2228AA_BP=812 MVKLANPLYTEWILEAIKKVKKQKQRPSEERICNAVSSSHGLDRKTVLEQLELSVKDGTILKVSNKGLNSYKDPDNPGRIALPKPRNHGK LDNKQNVDWNKLIKRAVEGLAESGGSTLKSIERFLKGQKDVSALFGGSAASGFHQQLRLAIKRAIGHGRLLKDGPLYRLNTKATNVDGKE SCESLSCLPPVSLLPHEKDKPVAEPIPICSFCLGTKEQNREKKPEELISCADCGNSGHPSCLKFSPELTVRVKALRWQCIECKTCSSCRD QGKNADNMLFCDSCDRGFHMECCDPPLTRMPKGMWICQICRPRKKGRKLLQKKAAQIKRRYTNPIGRPKNRLKKQNTVSKGPFSKVRTGP GRGRKRKITLSSQSASSSSEEGYLERIDGLDFCRDSNVSLKFNKKTKGLIDGLTKFFTPSPDGRKARGEVVDYSEQYRIRKRGNRKSSTS DWPTDNQDGWDGKQENEERLFGSQEIMTEKDMELFRDIQEQALQKVGVTGPPDPQVRCPSVIEFGKYEIHTWYSSPYPQEYSRLPKLYLC EFCLKYMKSRTILQQHMKKCGWFHPPANEIYRKNNISVFEVDGNVSTIYCQNLCLLAKLFLDHKTLYYDVEPFLFYVLTQNDVKGCHLVG YFSKEKHCQQKYNVSCIMILPQYQRKGYGRFLIDFSYLLSKREGQAGSPEKPLSDLGRLSYMAYWKSVILECLYHQNDKQISIKKLSKLT GICPQDITSTLHHLRMLDFRSDQFVIIRREKLIQDHMAKLQLNLRPVDVDPECLRWTPVIVSNSVVSEEEEEEAEEGENEEPQCQERELE ISVLEKYPNTPMSHKEILQVIQREGLKEIRSGTSPLACLNAMLHTNSRGEEGIFYKVPGRMGVYTLKKDVPDGVKELSEGSEESSDGQSD SQSSENSSSSSDGGSNKEGKKSRWKRKVSSSSPQSGCPSPTIPAGKVISPSQKHSKKALKQALKQQQQKKQQQQCRPSISISSNQHLSLK TVKAASDSVPAKPATWEGKQSDGQTGSPQNSNSSFSSSVKVENTLLGLGKKSFQRSERLHTRQMKRTKCADIDVETPDSILVNTNLRALI NKHTFSVLPGDCQQRLLLLLPEVDRQVGPDGLMKLNGSALNNEFFTSAAQGWKERLSEGEFTPEMQVRIRQEIEKEKKVEPWKEQFFESY YGQSSGLSLEDSKKLTASPSDPKVKKTPAEQPKSMPVSEASLIRIVPVVSQSECKEEALQMSSPGRKEECESQGEVQPNFSTSSEPLLSS ALNTHELSSILPIKCPKDEDLLEQKPVTSAEQESEKNHLTTASNYNKSESQESLVTSPSKPKSPGVEKPIVKPTAGAGPQETNMKEPLAT LVDQSPESLKRKSSLTQEEAPVSWEKRPRVTENRQHQQPFQVSPQPFLNRGDRIQVRKVPPLKIPVSRISPMPFHPSQVSPRARFPVSIT SPNRTGARTLADIKAKAQLVKAQRAAAAAAAAAAAAASVGGTIPGPGPGGGQGPGEGGEGQTARGGSPGSDRVSETGKGPTLELAGTGSR GGTRELLPCGPETQPQSETKTTPSQAQPHSVSGAQLQQTPPVPPTPAVSGACTSVPSPAHIEKLDNEKLNPTRATATVASVSHPQGPSSC RQEKAPSPTGPALISGASPVHCAADGTVELKAGPSKNIPNPSASSKTDASVPVAVTPSPLTSLLTTATLEKLPVPQVSATTAPAGSAPPS STLPAASSLKTPGTSLNMNGPTLRPTSSIPANNPLVTQLLQGKDVPMEQILPKPLTKVEMKTVPLTAKEERGMGALIATNTTENSTREEV NERQSHPATQQQLGKTLQSKQLPQVPRPLQLFSAKELRDSSIDTHQYHEGLSKATQDQILQTLIQRVRRQNLLSVVPPSQFNFAHSGFQL EDISTSQRFMLGFAGRRTSKPAMAGHYLLNISTYGRGSESFRRTHSVNPEDRFCLSSPTEALKMGYTDCKNATGESSSSKEDDTDEESTG DEQESVTVKEEPQVSQSAGKGDTSSGPHSRETLSTSDCLASKNVKAEIPLNEQTTLSKENYLFTRGQTFDEKTLARDLIQAAQKQMAHAV RGKAIRSSPELFSSTVLPLPADSPTHQPLLLPPLQTPKLYGSPTQIGPSYRGMINVSTSSDMDHNSAVPGSQVSSNVGDVMSFSVTVTTI -------------------------------------------------------------- |
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Fusion Protein Functional Features |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr8:41909478/chr2:25962260) - 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 |
KAT6A | ASXL2 |
FUNCTION: Histone acetyltransferase that acetylates lysine residues in histone H3 and histone H4 (in vitro). Component of the MOZ/MORF complex which has a histone H3 acetyltransferase activity. May act as a transcriptional coactivator for RUNX1 and RUNX2. Acetylates p53/TP53 at 'Lys-120' and 'Lys-382' and controls its transcriptional activity via association with PML. {ECO:0000269|PubMed:11742995, ECO:0000269|PubMed:11965546, ECO:0000269|PubMed:12771199, ECO:0000269|PubMed:16387653, ECO:0000269|PubMed:17925393, ECO:0000269|PubMed:23431171}. | FUNCTION: Putative Polycomb group (PcG) protein. PcG proteins act by forming multiprotein complexes, which are required to maintain the transcriptionally repressive state of homeotic genes throughout development. PcG proteins are not required to initiate repression, but to maintain it during later stages of development. They probably act via methylation of histones, rendering chromatin heritably changed in its expressibility (By similarity). Involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors, such as peroxisome proliferator-activated receptor gamma (PPARG). Acts as coactivator for PPARG and enhances its adipocyte differentiation-inducing activity; the function seems to involve differential recruitment of acetylated and methylated histone H3. {ECO:0000250, ECO:0000269|PubMed:21047783}. |
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. |
- 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 |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 371_379 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Ser |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 788_801 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Glu |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 371_379 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Ser |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 788_801 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Glu |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 371_379 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Ser |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 788_801 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Glu |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 504_778 | 812.0 | 2005.0 | Domain | MYST-type HAT |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 95_171 | 812.0 | 2005.0 | Domain | H15 |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 504_778 | 812.0 | 2005.0 | Domain | MYST-type HAT |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 95_171 | 812.0 | 2005.0 | Domain | H15 |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 504_778 | 812.0 | 2005.0 | Domain | MYST-type HAT |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 95_171 | 812.0 | 2005.0 | Domain | H15 |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 1_144 | 812.0 | 2005.0 | Region | Note=Required for activation of RUNX1-1 |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 488_778 | 812.0 | 2005.0 | Region | Note=Catalytic |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 52_166 | 812.0 | 2005.0 | Region | Note=Required for nuclear localization |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 645_649 | 812.0 | 2005.0 | Region | Acetyl-CoA binding |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 654_660 | 812.0 | 2005.0 | Region | Acetyl-CoA binding |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 1_144 | 812.0 | 2005.0 | Region | Note=Required for activation of RUNX1-1 |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 488_778 | 812.0 | 2005.0 | Region | Note=Catalytic |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 52_166 | 812.0 | 2005.0 | Region | Note=Required for nuclear localization |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 645_649 | 812.0 | 2005.0 | Region | Acetyl-CoA binding |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 654_660 | 812.0 | 2005.0 | Region | Acetyl-CoA binding |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 1_144 | 812.0 | 2005.0 | Region | Note=Required for activation of RUNX1-1 |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 488_778 | 812.0 | 2005.0 | Region | Note=Catalytic |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 52_166 | 812.0 | 2005.0 | Region | Note=Required for nuclear localization |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 645_649 | 812.0 | 2005.0 | Region | Acetyl-CoA binding |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 654_660 | 812.0 | 2005.0 | Region | Acetyl-CoA binding |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 206_265 | 812.0 | 2005.0 | Zinc finger | PHD-type 1 |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 259_313 | 812.0 | 2005.0 | Zinc finger | PHD-type 2 |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 537_562 | 812.0 | 2005.0 | Zinc finger | C2HC MYST-type |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 206_265 | 812.0 | 2005.0 | Zinc finger | PHD-type 1 |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 259_313 | 812.0 | 2005.0 | Zinc finger | PHD-type 2 |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 537_562 | 812.0 | 2005.0 | Zinc finger | C2HC MYST-type |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 206_265 | 812.0 | 2005.0 | Zinc finger | PHD-type 1 |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 259_313 | 812.0 | 2005.0 | Zinc finger | PHD-type 2 |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 537_562 | 812.0 | 2005.0 | Zinc finger | C2HC MYST-type |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000272341 | 0 | 13 | 1173_1176 | 0 | 919.0 | Compositional bias | Note=Poly-Ser | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000272341 | 0 | 13 | 303_307 | 0 | 919.0 | Compositional bias | Note=Poly-Leu | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000272341 | 0 | 13 | 654_684 | 0 | 919.0 | Compositional bias | Note=Ala-rich | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000272341 | 0 | 13 | 687_739 | 0 | 919.0 | Compositional bias | Note=Gly-rich | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000272341 | 0 | 13 | 95_235 | 0 | 919.0 | Compositional bias | Note=Ser-rich | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000404843 | 0 | 10 | 1173_1176 | 0 | 919.0 | Compositional bias | Note=Poly-Ser | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000404843 | 0 | 10 | 303_307 | 0 | 919.0 | Compositional bias | Note=Poly-Leu | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000404843 | 0 | 10 | 654_684 | 0 | 919.0 | Compositional bias | Note=Ala-rich | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000404843 | 0 | 10 | 687_739 | 0 | 919.0 | Compositional bias | Note=Gly-rich | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000404843 | 0 | 10 | 95_235 | 0 | 919.0 | Compositional bias | Note=Ser-rich | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000435504 | 0 | 13 | 1173_1176 | 19.0 | 1436.0 | Compositional bias | Note=Poly-Ser | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000435504 | 0 | 13 | 303_307 | 19.0 | 1436.0 | Compositional bias | Note=Poly-Leu | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000435504 | 0 | 13 | 654_684 | 19.0 | 1436.0 | Compositional bias | Note=Ala-rich | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000435504 | 0 | 13 | 687_739 | 19.0 | 1436.0 | Compositional bias | Note=Gly-rich | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000435504 | 0 | 13 | 95_235 | 19.0 | 1436.0 | Compositional bias | Note=Ser-rich | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000272341 | 0 | 13 | 11_86 | 0 | 919.0 | Domain | HTH HARE-type | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000272341 | 0 | 13 | 274_383 | 0 | 919.0 | Domain | DEUBAD | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000404843 | 0 | 10 | 11_86 | 0 | 919.0 | Domain | HTH HARE-type | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000404843 | 0 | 10 | 274_383 | 0 | 919.0 | Domain | DEUBAD | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000435504 | 0 | 13 | 274_383 | 19.0 | 1436.0 | Domain | DEUBAD | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000272341 | 0 | 13 | 174_178 | 0 | 919.0 | Motif | Nuclear localization signal | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000272341 | 0 | 13 | 887_891 | 0 | 919.0 | Motif | Note=LXXLL motif 2 | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000404843 | 0 | 10 | 174_178 | 0 | 919.0 | Motif | Nuclear localization signal | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000404843 | 0 | 10 | 887_891 | 0 | 919.0 | Motif | Note=LXXLL motif 2 | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000435504 | 0 | 13 | 174_178 | 19.0 | 1436.0 | Motif | Nuclear localization signal | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000435504 | 0 | 13 | 887_891 | 19.0 | 1436.0 | Motif | Note=LXXLL motif 2 | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000272341 | 0 | 13 | 1397_1434 | 0 | 919.0 | Zinc finger | Note=PHD-type%3B atypical | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000404843 | 0 | 10 | 1397_1434 | 0 | 919.0 | Zinc finger | Note=PHD-type%3B atypical | |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000435504 | 0 | 13 | 1397_1434 | 19.0 | 1436.0 | Zinc finger | Note=PHD-type%3B atypical |
- 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 |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 1019_1026 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Arg |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 1069_1078 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Glu |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 1147_1150 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Lys |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 1221_1242 | 812.0 | 2005.0 | Compositional bias | Note=Glu-rich |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 1267_1302 | 812.0 | 2005.0 | Compositional bias | Note=Glu-rich |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 1411_1414 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Glu |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 1593_1597 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Ser |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 1643_1704 | 812.0 | 2005.0 | Compositional bias | Note=Gln/Pro-rich |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 1897_1977 | 812.0 | 2005.0 | Compositional bias | Note=Met-rich |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 989_995 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Glu |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 1019_1026 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Arg |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 1069_1078 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Glu |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 1147_1150 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Lys |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 1221_1242 | 812.0 | 2005.0 | Compositional bias | Note=Glu-rich |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 1267_1302 | 812.0 | 2005.0 | Compositional bias | Note=Glu-rich |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 1411_1414 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Glu |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 1593_1597 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Ser |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 1643_1704 | 812.0 | 2005.0 | Compositional bias | Note=Gln/Pro-rich |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 1897_1977 | 812.0 | 2005.0 | Compositional bias | Note=Met-rich |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 989_995 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Glu |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 1019_1026 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Arg |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 1069_1078 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Glu |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 1147_1150 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Lys |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 1221_1242 | 812.0 | 2005.0 | Compositional bias | Note=Glu-rich |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 1267_1302 | 812.0 | 2005.0 | Compositional bias | Note=Glu-rich |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 1411_1414 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Glu |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 1593_1597 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Ser |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 1643_1704 | 812.0 | 2005.0 | Compositional bias | Note=Gln/Pro-rich |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 1897_1977 | 812.0 | 2005.0 | Compositional bias | Note=Met-rich |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 989_995 | 812.0 | 2005.0 | Compositional bias | Note=Poly-Glu |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 1913_1948 | 812.0 | 2005.0 | Region | Note=Required for activation of RUNX1-2 |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 1913_1948 | 812.0 | 2005.0 | Region | Note=Required for activation of RUNX1-2 |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 1913_1948 | 812.0 | 2005.0 | Region | Note=Required for activation of RUNX1-2 |
Tgene | ASXL2 | chr8:41800309 | chr2:26068436 | ENST00000435504 | 0 | 13 | 11_86 | 19.0 | 1436.0 | Domain | HTH HARE-type |
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Fusion Protein Structures |
PDB and CIF files of the predicted fusion proteins * Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format. |
Fusion protein PDB link (fusion AA seq ID in FusionPDB) | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | AA seq | Len(AA seq) |
PDB file (1117) | KAT6A | chr8 | 41800310 | ASXL2 | chr2 | 26068432 | - | MVKLANPLYTEWILEAIKKVKKQKQRPSEERICNAVSSSHGLDRKTVLEQ LELSVKDGTILKVSNKGLNSYKDPDNPGRIALPKPRNHGKLDNKQNVDWN KLIKRAVEGLAESGGSTLKSIERFLKGQKDVSALFGGSAASGFHQQLRLA IKRAIGHGRLLKDGPLYRLNTKATNVDGKESCESLSCLPPVSLLPHEKDK PVAEPIPICSFCLGTKEQNREKKPEELISCADCGNSGHPSCLKFSPELTV RVKALRWQCIECKTCSSCRDQGKNADNMLFCDSCDRGFHMECCDPPLTRM PKGMWICQICRPRKKGRKLLQKKAAQIKRRYTNPIGRPKNRLKKQNTVSK GPFSKVRTGPGRGRKRKITLSSQSASSSSEEGYLERIDGLDFCRDSNVSL KFNKKTKGLIDGLTKFFTPSPDGRKARGEVVDYSEQYRIRKRGNRKSSTS DWPTDNQDGWDGKQENEERLFGSQEIMTEKDMELFRDIQEQALQKVGVTG PPDPQVRCPSVIEFGKYEIHTWYSSPYPQEYSRLPKLYLCEFCLKYMKSR TILQQHMKKCGWFHPPANEIYRKNNISVFEVDGNVSTIYCQNLCLLAKLF LDHKTLYYDVEPFLFYVLTQNDVKGCHLVGYFSKEKHCQQKYNVSCIMIL PQYQRKGYGRFLIDFSYLLSKREGQAGSPEKPLSDLGRLSYMAYWKSVIL ECLYHQNDKQISIKKLSKLTGICPQDITSTLHHLRMLDFRSDQFVIIRRE KLIQDHMAKLQLNLRPVDVDPECLRWTPVIVSNSVVSEEEEEEAEEGENE EPQCQERELEISVLEKYPNTPMSHKEILQVIQREGLKEIRSGTSPLACLN AMLHTNSRGEEGIFYKVPGRMGVYTLKKDVPDGVKELSEGSEESSDGQSD SQSSENSSSSSDGGSNKEGKKSRWKRKVSSSSPQSGCPSPTIPAGKVISP SQKHSKKALKQALKQQQQKKQQQQCRPSISISSNQHLSLKTVKAASDSVP AKPATWEGKQSDGQTGSPQNSNSSFSSSVKVENTLLGLGKKSFQRSERLH TRQMKRTKCADIDVETPDSILVNTNLRALINKHTFSVLPGDCQQRLLLLL PEVDRQVGPDGLMKLNGSALNNEFFTSAAQGWKERLSEGEFTPEMQVRIR QEIEKEKKVEPWKEQFFESYYGQSSGLSLEDSKKLTASPSDPKVKKTPAE QPKSMPVSEASLIRIVPVVSQSECKEEALQMSSPGRKEECESQGEVQPNF STSSEPLLSSALNTHELSSILPIKCPKDEDLLEQKPVTSAEQESEKNHLT TASNYNKSESQESLVTSPSKPKSPGVEKPIVKPTAGAGPQETNMKEPLAT LVDQSPESLKRKSSLTQEEAPVSWEKRPRVTENRQHQQPFQVSPQPFLNR GDRIQVRKVPPLKIPVSRISPMPFHPSQVSPRARFPVSITSPNRTGARTL ADIKAKAQLVKAQRAAAAAAAAAAAAASVGGTIPGPGPGGGQGPGEGGEG QTARGGSPGSDRVSETGKGPTLELAGTGSRGGTRELLPCGPETQPQSETK TTPSQAQPHSVSGAQLQQTPPVPPTPAVSGACTSVPSPAHIEKLDNEKLN PTRATATVASVSHPQGPSSCRQEKAPSPTGPALISGASPVHCAADGTVEL KAGPSKNIPNPSASSKTDASVPVAVTPSPLTSLLTTATLEKLPVPQVSAT TAPAGSAPPSSTLPAASSLKTPGTSLNMNGPTLRPTSSIPANNPLVTQLL QGKDVPMEQILPKPLTKVEMKTVPLTAKEERGMGALIATNTTENSTREEV NERQSHPATQQQLGKTLQSKQLPQVPRPLQLFSAKELRDSSIDTHQYHEG LSKATQDQILQTLIQRVRRQNLLSVVPPSQFNFAHSGFQLEDISTSQRFM LGFAGRRTSKPAMAGHYLLNISTYGRGSESFRRTHSVNPEDRFCLSSPTE ALKMGYTDCKNATGESSSSKEDDTDEESTGDEQESVTVKEEPQVSQSAGK GDTSSGPHSRETLSTSDCLASKNVKAEIPLNEQTTLSKENYLFTRGQTFD EKTLARDLIQAAQKQMAHAVRGKAIRSSPELFSSTVLPLPADSPTHQPLL LPPLQTPKLYGSPTQIGPSYRGMINVSTSSDMDHNSAVPGSQVSSNVGDV MSFSVTVTTIPASQAMNPSSHGQTIPVQAFSEENSIEGTPSKCYCRLKAM | 2228 |
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pLDDT score distribution |
pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2 * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
KAT6A_pLDDT.png |
ASXL2_pLDDT.png |
pLDDT score distribution of the predicted fusion protein structures from AlphaFold2 * AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. |
KAT6A_ASXL2_1117_pLDDT_and_active_sites.png (AA BP:) |
KAT6A_ASXL2_1117_violinplot.png (AA BP:) |
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Ramachandran Plot of Fusion Protein Structure |
Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide. |
Fusion AA seq ID in FusionPDB and their Ramachandran plots |
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Potential Active Site Information |
The potential binding sites of these fusion proteins were identified using SiteMap, a module of the Schrodinger suite. |
Fusion AA seq ID in FusionPDB | Site score | Size | D score | Volume | Exposure | Enclosure | Contact | Phobic | Philic | Balance | Don/Acc | Residues |
1117 | 1.075 | 127 | 1.156 | 518.959 | 0.584 | 0.68 | 0.908 | 1.768 | 0.59 | 2.997 | 1.589 | Chain A: 1051,1054,1055,1057,1058,1059,1060,1061,1 062,1063,1070,1071,1074,1076,1079,1080,1084,1085,1 087,1088,1089,1096,1099,1100,1101,1104,1115,1120,1 124,1125,1128,1129,1132 |
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Potentially Interacting Small Molecules through Virtual Screening |
The FDA-approved small molecule library molecules were subjected to virtual screening using the Glide. |
Fusion AA seq ID in FusionPDB | ZINC ID | DrugBank ID | Drug name | Docking score | Glide gscore |
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Drug information from DrugBank of the top 20 interacting small molecules. |
ZINC ID | DrugBank ID | Drug name | Drug type | SMILES | Drug group |
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Biochemical Features of Small Molecules |
ADME (Absorption, Distribution, Metabolism, and Excretion) of drugs using QikProp(v3.9) |
ZINC ID | mol_MW | dipole | SASA | FOSA | FISA | PISA | WPSA | volume | donorHB | accptHB | IP | Human Oral Absorption | Percent Human Oral Absorption | Rule Of Five | Rule Of Three |
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Drug Toxicity Information |
Toxicity information of individual drugs using eToxPred |
ZINC ID | Smile | Surface Accessibility | Toxicity |
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Fusion Protein-Protein Interaction |
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 from validated records (BIOGRID-3.4.160) |
Gene | PPI interactors |
KAT6A | ING5, UBE2U, MAFK, BRPF1, HSPA4, TP53, EP300, MEAF6, HIST1H3A, HIST1H4A, RUNX1, CREBBP, ESR1, KMT2A, WDR5, HIST2H3C, ELAVL1, ATN1, ATXN1, RERE, H3F3C, HIST1H4I, HIST3H3, PML, SYMPK, AKT1, HIST4H4, CCNB1, CRK, RPL10, RNPS1, L1TD1, PHF14, TNRC6B, PNPLA8, RSF1, Myo1c, Rpl35, Tpx2, Srsf1, Tubgcp6, HEMGN, HNRNPL, KIAA1429, RANGAP1, BRD1, BRPF3, ING4, KAT7, JADE3, KAT6B, JADE2, JADE1, HIST1H2BO, HRG, CSNK2A2, APEX1, CENPA, DANCR, ZBTB2, CSNK2B, CSNK2A1, RFWD2, HSPD1, CMAS, HIST2H2BF, CASP2, TRIM65, HGH1, TTC4, PPP2R5C, OTUD3, DBNL, PIP4K2C, ATIC, NUDT12, B3GALTL, ATG4B, PABPN1, DEK, SF3A3, |
Protein-protein interactors based on sequence similarity (STRING) |
Gene | STRING network |
KAT6A | |
ASXL2 |
- Retained interactions in fusion protein (protein functional feature from UniProt). |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost interactions due to fusion (protein functional feature from UniProt). |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 1517_1741 | 812.0 | 2005.0 | PML |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 1517_1741 | 812.0 | 2005.0 | PML |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 1517_1741 | 812.0 | 2005.0 | PML |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000265713 | - | 14 | 17 | 1517_1642 | 812.0 | 2005.0 | RUNX1-2 |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000396930 | - | 15 | 18 | 1517_1642 | 812.0 | 2005.0 | RUNX1-2 |
Hgene | KAT6A | chr8:41800309 | chr2:26068436 | ENST00000406337 | - | 15 | 18 | 1517_1642 | 812.0 | 2005.0 | RUNX1-2 |
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Related Drugs to KAT6A-ASXL2 |
Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to KAT6A-ASXL2 |
Diseases that have this fusion gene. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | KAT6A | C4225396 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | KAT6A | C4511003 | Acute myeloid leukemia with t(8;16)(p11;p13) translocation | 2 | ORPHANET |
Hgene | KAT6A | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
Hgene | KAT6A | C0025149 | Medulloblastoma | 1 | CTD_human |
Hgene | KAT6A | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | KAT6A | C0205833 | Medullomyoblastoma | 1 | CTD_human |
Hgene | KAT6A | C0278510 | Childhood Medulloblastoma | 1 | CTD_human |
Hgene | KAT6A | C0278876 | Adult Medulloblastoma | 1 | CTD_human |
Hgene | KAT6A | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | KAT6A | C0751291 | Desmoplastic Medulloblastoma | 1 | CTD_human |
Hgene | KAT6A | C1275668 | Melanotic medulloblastoma | 1 | CTD_human |
Tgene | ASXL2 | C0005684 | Malignant neoplasm of urinary bladder | 1 | CTD_human |
Tgene | ASXL2 | C0005695 | Bladder Neoplasm | 1 | CTD_human |
Tgene | ASXL2 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
Tgene | ASXL2 | C0026998 | Acute Myeloid Leukemia, M1 | 1 | CTD_human |
Tgene | ASXL2 | C1879321 | Acute Myeloid Leukemia (AML-M2) | 1 | CTD_human |
Tgene | ASXL2 | C4310672 | SHASHI-PENA SYNDROME | 1 | GENOMICS_ENGLAND |