UTHEALTH HOME ABOUT SBMI A-Z WEBMAIL INSIDE THE UNIVERSITY |
|
Fusion Protein:RUNX1-CBFA2T2 |
Fusion Protein Summary |
Fusion gene summary |
Fusion partner gene information | Fusion gene name: RUNX1-CBFA2T2 | FusionPDB ID: 78645 | FusionGDB2.0 ID: 78645 | Hgene | Tgene | Gene symbol | RUNX1 | CBFA2T2 | Gene ID | 861 | 9139 |
Gene name | RUNX family transcription factor 1 | CBFA2/RUNX1 partner transcriptional co-repressor 2 | |
Synonyms | AML1|AML1-EVI-1|AMLCR1|CBF2alpha|CBFA2|EVI-1|PEBP2aB|PEBP2alpha | EHT|MTGR1|ZMYND3|p85 | |
Cytomap | 21q22.12 | 20q11.21-q11.22 | |
Type of gene | protein-coding | protein-coding | |
Description | runt-related transcription factor 1AML1-EVI-1 fusion proteinPEA2-alpha BPEBP2-alpha BSL3-3 enhancer factor 1 alpha B subunitSL3/AKV core-binding factor alpha B subunitacute myeloid leukemia 1 proteincore-binding factor, runt domain, alpha subunit 2 | protein CBFA2T2CBFA2/RUNX1 translocation partner 2ETO homolog on chromosome 20ETO homologous on chromosome 20MTG8-like proteinMTG8-related protein 1core-binding factor, runt domain, alpha subunit 2; translocated to, 2myeloid translocation gene-rela | |
Modification date | 20200322 | 20200313 | |
UniProtAcc | Q06455 | O43439 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000300305, ENST00000325074, ENST00000344691, ENST00000358356, ENST00000399240, ENST00000437180, ENST00000486278, ENST00000494829, | ENST00000344201, ENST00000346541, ENST00000359606, ENST00000397798, ENST00000397800, ENST00000492345, ENST00000491618, ENST00000543126, ENST00000342704, ENST00000375279, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 46 X 68 X 13=40664 | 17 X 18 X 9=2754 |
# samples | 89 | 25 | |
** MAII score | log2(89/40664*10)=-5.51380298959468 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(25/2754*10)=-3.46152855947288 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: RUNX1 [Title/Abstract] AND CBFA2T2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | RUNX1(36231874)-CBFA2T2(32194762), # samples:1 RUNX1(36231771)-CBFA2T2(32194762), # samples:1 RUNX1(36095625)-CBFA2T2(32161779), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | RUNX1-CBFA2T2 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. RUNX1-CBFA2T2 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. RUNX1-CBFA2T2 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. RUNX1-CBFA2T2 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. RUNX1-CBFA2T2 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF. RUNX1-CBFA2T2 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF. RUNX1-CBFA2T2 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF. RUNX1-CBFA2T2 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 | RUNX1 | GO:0030097 | hemopoiesis | 21873977 |
Hgene | RUNX1 | GO:0045893 | positive regulation of transcription, DNA-templated | 10207087|14970218 |
Hgene | RUNX1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 9199349|10207087|14970218|21873977 |
Tgene | CBFA2T2 | GO:0010976 | positive regulation of neuron projection development | 19026687 |
Tgene | CBFA2T2 | GO:0045892 | negative regulation of transcription, DNA-templated | 23251453 |
Fusion gene breakpoints across RUNX1 (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 CBFA2T2 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Top |
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 | acute myeloid leukemia | GU070940 | RUNX1 | chr21 | 36231874 | CBFA2T2 | chr20 | 32194762 | ||
ChiTaRS5.0 | N/A | GU070940 | RUNX1 | chr21 | 36231771 | - | CBFA2T2 | chr20 | 32194762 | + |
ChiTaRS5.0 | N/A | GU086368 | RUNX1 | chr21 | 36095625 | - | CBFA2T2 | chr20 | 32161779 | + |
Top |
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) |
ENST00000344691 | RUNX1 | chr21 | 36231771 | - | ENST00000342704 | CBFA2T2 | chr20 | 32194762 | + | 4759 | 2110 | 1578 | 3863 | 761 |
ENST00000344691 | RUNX1 | chr21 | 36231771 | - | ENST00000375279 | CBFA2T2 | chr20 | 32194762 | + | 9254 | 2110 | 1578 | 3863 | 761 |
ENST00000325074 | RUNX1 | chr21 | 36231771 | - | ENST00000342704 | CBFA2T2 | chr20 | 32194762 | + | 3226 | 577 | 0 | 2330 | 776 |
ENST00000325074 | RUNX1 | chr21 | 36231771 | - | ENST00000375279 | CBFA2T2 | chr20 | 32194762 | + | 7721 | 577 | 0 | 2330 | 776 |
ENST00000300305 | RUNX1 | chr21 | 36231771 | - | ENST00000342704 | CBFA2T2 | chr20 | 32194762 | + | 3707 | 1058 | 445 | 2811 | 788 |
ENST00000300305 | RUNX1 | chr21 | 36231771 | - | ENST00000375279 | CBFA2T2 | chr20 | 32194762 | + | 8202 | 1058 | 445 | 2811 | 788 |
ENST00000399240 | RUNX1 | chr21 | 36231771 | - | ENST00000342704 | CBFA2T2 | chr20 | 32194762 | + | 3252 | 603 | 71 | 2356 | 761 |
ENST00000399240 | RUNX1 | chr21 | 36231771 | - | ENST00000375279 | CBFA2T2 | chr20 | 32194762 | + | 7747 | 603 | 71 | 2356 | 761 |
ENST00000486278 | RUNX1 | chr21 | 36231771 | - | ENST00000342704 | CBFA2T2 | chr20 | 32194762 | + | 3406 | 757 | 144 | 2510 | 788 |
ENST00000486278 | RUNX1 | chr21 | 36231771 | - | ENST00000375279 | CBFA2T2 | chr20 | 32194762 | + | 7901 | 757 | 144 | 2510 | 788 |
ENST00000358356 | RUNX1 | chr21 | 36231771 | - | ENST00000342704 | CBFA2T2 | chr20 | 32194762 | + | 4759 | 2110 | 1578 | 3863 | 761 |
ENST00000358356 | RUNX1 | chr21 | 36231771 | - | ENST00000375279 | CBFA2T2 | chr20 | 32194762 | + | 9254 | 2110 | 1578 | 3863 | 761 |
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 |
ENST00000344691 | ENST00000342704 | RUNX1 | chr21 | 36231771 | - | CBFA2T2 | chr20 | 32194762 | + | 0.025929978 | 0.97407 |
ENST00000344691 | ENST00000375279 | RUNX1 | chr21 | 36231771 | - | CBFA2T2 | chr20 | 32194762 | + | 0.010579609 | 0.9894204 |
ENST00000325074 | ENST00000342704 | RUNX1 | chr21 | 36231771 | - | CBFA2T2 | chr20 | 32194762 | + | 0.034620833 | 0.9653791 |
ENST00000325074 | ENST00000375279 | RUNX1 | chr21 | 36231771 | - | CBFA2T2 | chr20 | 32194762 | + | 0.010153135 | 0.9898469 |
ENST00000300305 | ENST00000342704 | RUNX1 | chr21 | 36231771 | - | CBFA2T2 | chr20 | 32194762 | + | 0.030581225 | 0.9694188 |
ENST00000300305 | ENST00000375279 | RUNX1 | chr21 | 36231771 | - | CBFA2T2 | chr20 | 32194762 | + | 0.009457869 | 0.9905421 |
ENST00000399240 | ENST00000342704 | RUNX1 | chr21 | 36231771 | - | CBFA2T2 | chr20 | 32194762 | + | 0.03194837 | 0.9680517 |
ENST00000399240 | ENST00000375279 | RUNX1 | chr21 | 36231771 | - | CBFA2T2 | chr20 | 32194762 | + | 0.012388522 | 0.9876115 |
ENST00000486278 | ENST00000342704 | RUNX1 | chr21 | 36231771 | - | CBFA2T2 | chr20 | 32194762 | + | 0.03279186 | 0.96720815 |
ENST00000486278 | ENST00000375279 | RUNX1 | chr21 | 36231771 | - | CBFA2T2 | chr20 | 32194762 | + | 0.010144355 | 0.98985565 |
ENST00000358356 | ENST00000342704 | RUNX1 | chr21 | 36231771 | - | CBFA2T2 | chr20 | 32194762 | + | 0.025929978 | 0.97407 |
ENST00000358356 | ENST00000375279 | RUNX1 | chr21 | 36231771 | - | CBFA2T2 | chr20 | 32194762 | + | 0.010579609 | 0.9894204 |
Top |
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 >78645_78645_1_RUNX1-CBFA2T2_RUNX1_chr21_36231771_ENST00000300305_CBFA2T2_chr20_32194762_ENST00000342704_length(amino acids)=788AA_BP=205 MASDSIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELV RTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTITVF TNPPQVATYHRAIKITVDGPREPRIGPEKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSP PQRFSNGPASSTSSALTNQQLPATCGARQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIP FLKANLPLLQRELLHCARAAKQTPSQYLAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPA PRHSPALTVPLMNPGGQFHPTPPPLQHYTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALN CIMEMVEKTRRSMAVLRRCQESDREELNYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVN KVKIQAMSEVQKAVAEAEQKAFEVIATERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDW -------------------------------------------------------------- >78645_78645_2_RUNX1-CBFA2T2_RUNX1_chr21_36231771_ENST00000300305_CBFA2T2_chr20_32194762_ENST00000375279_length(amino acids)=788AA_BP=205 MASDSIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELV RTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTITVF TNPPQVATYHRAIKITVDGPREPRIGPEKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSP PQRFSNGPASSTSSALTNQQLPATCGARQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIP FLKANLPLLQRELLHCARAAKQTPSQYLAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPA PRHSPALTVPLMNPGGQFHPTPPPLQHYTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALN CIMEMVEKTRRSMAVLRRCQESDREELNYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVN KVKIQAMSEVQKAVAEAEQKAFEVIATERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDW -------------------------------------------------------------- >78645_78645_3_RUNX1-CBFA2T2_RUNX1_chr21_36231771_ENST00000325074_CBFA2T2_chr20_32194762_ENST00000342704_length(amino acids)=776AA_BP=193 MPAAPRGPAQGEAAARTRSRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTDSPNFLCSVL PTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRA IKITVDGPREPRIGPEKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASST SSALTNQQLPATCGARQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIPFLKANLPLLQRE LLHCARAAKQTPSQYLAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLM NPGGQFHPTPPPLQHYTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALNCIMEMVEKTRRS MAVLRRCQESDREELNYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVNKVKIQAMSEVQK AVAEAEQKAFEVIATERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDWERHHRLCGQNLH -------------------------------------------------------------- >78645_78645_4_RUNX1-CBFA2T2_RUNX1_chr21_36231771_ENST00000325074_CBFA2T2_chr20_32194762_ENST00000375279_length(amino acids)=776AA_BP=193 MPAAPRGPAQGEAAARTRSRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTDSPNFLCSVL PTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRA IKITVDGPREPRIGPEKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASST SSALTNQQLPATCGARQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIPFLKANLPLLQRE LLHCARAAKQTPSQYLAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLM NPGGQFHPTPPPLQHYTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALNCIMEMVEKTRRS MAVLRRCQESDREELNYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVNKVKIQAMSEVQK AVAEAEQKAFEVIATERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDWERHHRLCGQNLH -------------------------------------------------------------- >78645_78645_5_RUNX1-CBFA2T2_RUNX1_chr21_36231771_ENST00000344691_CBFA2T2_chr20_32194762_ENST00000342704_length(amino acids)=761AA_BP=178 MRIPVDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFK VVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRIGP EKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASSTSSALTNQQLPATCGA RQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARAAKQTPSQY LAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLMNPGGQFHPTPPPLQH YTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALNCIMEMVEKTRRSMAVLRRCQESDREEL NYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVNKVKIQAMSEVQKAVAEAEQKAFEVIAT ERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDWERHHRLCGQNLHGQSPHGQGRPLLPVG -------------------------------------------------------------- >78645_78645_6_RUNX1-CBFA2T2_RUNX1_chr21_36231771_ENST00000344691_CBFA2T2_chr20_32194762_ENST00000375279_length(amino acids)=761AA_BP=178 MRIPVDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFK VVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRIGP EKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASSTSSALTNQQLPATCGA RQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARAAKQTPSQY LAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLMNPGGQFHPTPPPLQH YTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALNCIMEMVEKTRRSMAVLRRCQESDREEL NYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVNKVKIQAMSEVQKAVAEAEQKAFEVIAT ERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDWERHHRLCGQNLHGQSPHGQGRPLLPVG -------------------------------------------------------------- >78645_78645_7_RUNX1-CBFA2T2_RUNX1_chr21_36231771_ENST00000358356_CBFA2T2_chr20_32194762_ENST00000342704_length(amino acids)=761AA_BP=178 MRIPVDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFK VVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRIGP EKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASSTSSALTNQQLPATCGA RQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARAAKQTPSQY LAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLMNPGGQFHPTPPPLQH YTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALNCIMEMVEKTRRSMAVLRRCQESDREEL NYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVNKVKIQAMSEVQKAVAEAEQKAFEVIAT ERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDWERHHRLCGQNLHGQSPHGQGRPLLPVG -------------------------------------------------------------- >78645_78645_8_RUNX1-CBFA2T2_RUNX1_chr21_36231771_ENST00000358356_CBFA2T2_chr20_32194762_ENST00000375279_length(amino acids)=761AA_BP=178 MRIPVDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFK VVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRIGP EKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASSTSSALTNQQLPATCGA RQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARAAKQTPSQY LAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLMNPGGQFHPTPPPLQH YTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALNCIMEMVEKTRRSMAVLRRCQESDREEL NYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVNKVKIQAMSEVQKAVAEAEQKAFEVIAT ERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDWERHHRLCGQNLHGQSPHGQGRPLLPVG -------------------------------------------------------------- >78645_78645_9_RUNX1-CBFA2T2_RUNX1_chr21_36231771_ENST00000399240_CBFA2T2_chr20_32194762_ENST00000342704_length(amino acids)=761AA_BP=178 MRIPVDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFK VVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRIGP EKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASSTSSALTNQQLPATCGA RQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARAAKQTPSQY LAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLMNPGGQFHPTPPPLQH YTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALNCIMEMVEKTRRSMAVLRRCQESDREEL NYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVNKVKIQAMSEVQKAVAEAEQKAFEVIAT ERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDWERHHRLCGQNLHGQSPHGQGRPLLPVG -------------------------------------------------------------- >78645_78645_10_RUNX1-CBFA2T2_RUNX1_chr21_36231771_ENST00000399240_CBFA2T2_chr20_32194762_ENST00000375279_length(amino acids)=761AA_BP=178 MRIPVDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFK VVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRIGP EKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASSTSSALTNQQLPATCGA RQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIPFLKANLPLLQRELLHCARAAKQTPSQY LAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLMNPGGQFHPTPPPLQH YTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALNCIMEMVEKTRRSMAVLRRCQESDREEL NYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVNKVKIQAMSEVQKAVAEAEQKAFEVIAT ERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDWERHHRLCGQNLHGQSPHGQGRPLLPVG -------------------------------------------------------------- >78645_78645_11_RUNX1-CBFA2T2_RUNX1_chr21_36231771_ENST00000486278_CBFA2T2_chr20_32194762_ENST00000342704_length(amino acids)=788AA_BP=205 MASDSIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELV RTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTITVF TNPPQVATYHRAIKITVDGPREPRIGPEKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSP PQRFSNGPASSTSSALTNQQLPATCGARQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIP FLKANLPLLQRELLHCARAAKQTPSQYLAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPA PRHSPALTVPLMNPGGQFHPTPPPLQHYTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALN CIMEMVEKTRRSMAVLRRCQESDREELNYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVN KVKIQAMSEVQKAVAEAEQKAFEVIATERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDW -------------------------------------------------------------- >78645_78645_12_RUNX1-CBFA2T2_RUNX1_chr21_36231771_ENST00000486278_CBFA2T2_chr20_32194762_ENST00000375279_length(amino acids)=788AA_BP=205 MASDSIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELV RTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTITVF TNPPQVATYHRAIKITVDGPREPRIGPEKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPRPVSFTPTALSNGINHSPPTLNGAPSP PQRFSNGPASSTSSALTNQQLPATCGARQLSKLKRFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIP FLKANLPLLQRELLHCARAAKQTPSQYLAQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPERREENSFDRDTIAPEPPAKRVCTISPA PRHSPALTVPLMNPGGQFHPTPPPLQHYTLEDIATSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALN CIMEMVEKTRRSMAVLRRCQESDREELNYWKRRYNENTELRKTGTELVSRQHSPGSADSLSNDSQREFNSRPGTGYVPVEFWKKTEEAVN KVKIQAMSEVQKAVAEAEQKAFEVIATERARMEQTIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDW -------------------------------------------------------------- |
Top |
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/chr21:36231874/chr20:32194762) - 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 |
RUNX1 | CBFA2T2 |
FUNCTION: Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199, PubMed:10688654). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). Can repress transactivation mediated by TCF12 (PubMed:16803958). Acts as a negative regulator of adipogenesis (By similarity). The AML1-MTG8/ETO fusion protein frequently found in leukemic cells is involved in leukemogenesis and contributes to hematopoietic stem/progenitor cell self-renewal (PubMed:23812588). {ECO:0000250|UniProtKB:Q61909, ECO:0000269|PubMed:10688654, ECO:0000269|PubMed:10973986, ECO:0000269|PubMed:16803958, ECO:0000269|PubMed:23251453, ECO:0000269|PubMed:23812588, ECO:0000303|PubMed:12559562, ECO:0000303|PubMed:15203199}. | FUNCTION: Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:12559562, PubMed:15203199). Via association with PRDM14 is involved in regulation of embryonic stem cell (ESC) pluripotency (PubMed:27281218). Involved in primordial germ cell (PCG) formation. Stabilizes PRDM14 and OCT4 on chromatin in a homooligomerization-dependent manner (By similarity). Can repress the expression of MMP7 in a ZBTB33-dependent manner (PubMed:23251453). May function as a complex with the chimeric protein RUNX1/AML1-CBFA2T1/MTG8 (AML1-MTG8/ETO fusion protein) which is produced in acute myeloid leukemia with the chromosomal translocation t(8;21). May thus be involved in the repression of AML1-dependent transcription and the induction of G-CSF/CSF3-dependent cell growth. May be a tumor suppressor gene candidate involved in myeloid tumors with the deletion of the 20q11 region. Through heteromerization with CBFA2T3/MTG16 may be involved in regulation of the proliferation and the differentiation of erythroid progenitors by repressing the expression of TAL1 target genes (By similarity). Required for the maintenance of the secretory cell lineage in the small intestine. Can inhibit Notch signaling probably by association with RBPJ and may be involved in GFI1-mediated Paneth cell differentiation (By similarity). {ECO:0000250|UniProtKB:O70374, ECO:0000269|PubMed:23251453, ECO:0000303|PubMed:12559562, ECO:0000303|PubMed:15203199}. |
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 | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000300305 | - | 5 | 8 | 50_178 | 204.33333333333334 | 481.0 | Domain | Runt |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000325074 | - | 4 | 7 | 50_178 | 192.33333333333334 | 469.0 | Domain | Runt |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000344691 | - | 3 | 6 | 50_178 | 177.33333333333334 | 454.0 | Domain | Runt |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000358356 | - | 3 | 5 | 50_178 | 177.33333333333334 | 251.0 | Domain | Runt |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000437180 | - | 6 | 9 | 50_178 | 204.33333333333334 | 481.0 | Domain | Runt |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000342704 | 0 | 11 | 451_491 | 11.333333333333334 | 596.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000344201 | 0 | 6 | 451_491 | 0 | 264.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000346541 | 1 | 12 | 451_491 | 20.333333333333332 | 605.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000359606 | 0 | 11 | 451_491 | 30.333333333333332 | 615.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000375279 | 1 | 12 | 451_491 | 20.333333333333332 | 605.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000397798 | 1 | 7 | 451_491 | 0 | 264.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000397800 | 0 | 11 | 451_491 | 0 | 576.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000492345 | 2 | 13 | 451_491 | 0 | 576.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000342704 | 0 | 11 | 33_97 | 11.333333333333334 | 596.0 | Compositional bias | Note=Pro-rich | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000344201 | 0 | 6 | 33_97 | 0 | 264.0 | Compositional bias | Note=Pro-rich | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000346541 | 1 | 12 | 33_97 | 20.333333333333332 | 605.0 | Compositional bias | Note=Pro-rich | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000359606 | 0 | 11 | 33_97 | 30.333333333333332 | 615.0 | Compositional bias | Note=Pro-rich | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000375279 | 1 | 12 | 33_97 | 20.333333333333332 | 605.0 | Compositional bias | Note=Pro-rich | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000397798 | 1 | 7 | 33_97 | 0 | 264.0 | Compositional bias | Note=Pro-rich | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000397800 | 0 | 11 | 33_97 | 0 | 576.0 | Compositional bias | Note=Pro-rich | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000492345 | 2 | 13 | 33_97 | 0 | 576.0 | Compositional bias | Note=Pro-rich | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000342704 | 0 | 11 | 113_208 | 11.333333333333334 | 596.0 | Domain | TAFH | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000344201 | 0 | 6 | 113_208 | 0 | 264.0 | Domain | TAFH | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000346541 | 1 | 12 | 113_208 | 20.333333333333332 | 605.0 | Domain | TAFH | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000359606 | 0 | 11 | 113_208 | 30.333333333333332 | 615.0 | Domain | TAFH | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000375279 | 1 | 12 | 113_208 | 20.333333333333332 | 605.0 | Domain | TAFH | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000397798 | 1 | 7 | 113_208 | 0 | 264.0 | Domain | TAFH | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000397800 | 0 | 11 | 113_208 | 0 | 576.0 | Domain | TAFH | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000492345 | 2 | 13 | 113_208 | 0 | 576.0 | Domain | TAFH | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000342704 | 0 | 11 | 331_377 | 11.333333333333334 | 596.0 | Region | Nervy homology region 2 (NHR2) | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000342704 | 0 | 11 | 435_484 | 11.333333333333334 | 596.0 | Region | Nervy homology region 3 (NHR3) | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000344201 | 0 | 6 | 331_377 | 0 | 264.0 | Region | Nervy homology region 2 (NHR2) | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000344201 | 0 | 6 | 435_484 | 0 | 264.0 | Region | Nervy homology region 3 (NHR3) | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000346541 | 1 | 12 | 331_377 | 20.333333333333332 | 605.0 | Region | Nervy homology region 2 (NHR2) | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000346541 | 1 | 12 | 435_484 | 20.333333333333332 | 605.0 | Region | Nervy homology region 3 (NHR3) | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000359606 | 0 | 11 | 331_377 | 30.333333333333332 | 615.0 | Region | Nervy homology region 2 (NHR2) | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000359606 | 0 | 11 | 435_484 | 30.333333333333332 | 615.0 | Region | Nervy homology region 3 (NHR3) | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000375279 | 1 | 12 | 331_377 | 20.333333333333332 | 605.0 | Region | Nervy homology region 2 (NHR2) | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000375279 | 1 | 12 | 435_484 | 20.333333333333332 | 605.0 | Region | Nervy homology region 3 (NHR3) | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000397798 | 1 | 7 | 331_377 | 0 | 264.0 | Region | Nervy homology region 2 (NHR2) | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000397798 | 1 | 7 | 435_484 | 0 | 264.0 | Region | Nervy homology region 3 (NHR3) | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000397800 | 0 | 11 | 331_377 | 0 | 576.0 | Region | Nervy homology region 2 (NHR2) | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000397800 | 0 | 11 | 435_484 | 0 | 576.0 | Region | Nervy homology region 3 (NHR3) | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000492345 | 2 | 13 | 331_377 | 0 | 576.0 | Region | Nervy homology region 2 (NHR2) | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000492345 | 2 | 13 | 435_484 | 0 | 576.0 | Region | Nervy homology region 3 (NHR3) | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000342704 | 0 | 11 | 517_553 | 11.333333333333334 | 596.0 | Zinc finger | MYND-type | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000344201 | 0 | 6 | 517_553 | 0 | 264.0 | Zinc finger | MYND-type | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000346541 | 1 | 12 | 517_553 | 20.333333333333332 | 605.0 | Zinc finger | MYND-type | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000359606 | 0 | 11 | 517_553 | 30.333333333333332 | 615.0 | Zinc finger | MYND-type | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000375279 | 1 | 12 | 517_553 | 20.333333333333332 | 605.0 | Zinc finger | MYND-type | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000397798 | 1 | 7 | 517_553 | 0 | 264.0 | Zinc finger | MYND-type | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000397800 | 0 | 11 | 517_553 | 0 | 576.0 | Zinc finger | MYND-type | |
Tgene | CBFA2T2 | chr21:36231771 | chr20:32194762 | ENST00000492345 | 2 | 13 | 517_553 | 0 | 576.0 | Zinc finger | MYND-type |
- 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 | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000300305 | - | 5 | 8 | 187_453 | 204.33333333333334 | 481.0 | Compositional bias | Note=Pro/Ser/Thr-rich |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000325074 | - | 4 | 7 | 187_453 | 192.33333333333334 | 469.0 | Compositional bias | Note=Pro/Ser/Thr-rich |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000344691 | - | 3 | 6 | 187_453 | 177.33333333333334 | 454.0 | Compositional bias | Note=Pro/Ser/Thr-rich |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000358356 | - | 3 | 5 | 187_453 | 177.33333333333334 | 251.0 | Compositional bias | Note=Pro/Ser/Thr-rich |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000437180 | - | 6 | 9 | 187_453 | 204.33333333333334 | 481.0 | Compositional bias | Note=Pro/Ser/Thr-rich |
Top |
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 |
RUNX1 | SUV39H1, KAT6B, CBFB, AES, PAX5, YAP1, JUN, FOS, SMAD3, SMAD1, SMAD2, SMAD5, VDR, ELF4, ELF2, CEBPB, TLE1, CBFA2T2, TRAF6, FHL2, MYOD1, HIPK2, EP300, HDAC1, HDAC3, KAT6A, tat, TCF12, TCF3, RUNX1T1, NCOR1, SIAH1, UBE2L6, RUNX1, PML, RARA, HDAC2, SIN3A, NR4A2, TRIM33, STUB1, Vdr, SMARCA4, SMARCB1, SMARCC1, CDK1, TAL1, COPRS, KMT2A, RBM14, SPEN, DNMT1, ELAVL1, CBFA2T3, PRMT1, HLA-DMA, CREBBP, UXT, CTBP2, NOTCH1, MYC, NCOR2, FOXP3, SOX2, CTBP1, HDAC11, RAG1, SPI1, ELF1, Cep72, CDK6, vif, KLF6, NFATC1, NFATC2, ZNF131, BRCA1, CDK9, FANCD2, Cbfb, CTNNB1, WWP1, RNF38, RNF44, DTX2, TRIM5, UHRF2, DZIP3, NEDD4, NKX2-1, HIF1A, ACTB, ARID1A, ARID3A, ASH2L, ACTL6A, BRD9, C2orf44, CCNK, CDC16, CDKN2AIP, CLTC, NELFB, CPSF3, CPSF6, CSTF2, CSTF2T, CTPS1, DDX1, DDX17, DDX21, DDX3X, DDX41, DDX5, DHX15, DHX36, DHX9, DPF2, EEF1A1, EEF1A2, EWSR1, EZR, FAF1, FERMT3, FIP1L1, FUBP1, FUS, GATAD2A, GATAD2B, GMPS, HIC2, HNRNPH1, HNRNPM, HNRNPR, HNRNPU, HSPA1A, HSPA2, HSPA5, HSPA8, HSPA9, IGF2BP1, INTS10, INTS9, KHSRP, KIF2B, LARP7, LCP1, LMNA, LMNB1, LRRC40, LRWD1, MED1, MED12, MED16, MED17, MED26, MEN1, MLLT1, MTA2, NDC80, NOP56, NONO, NUP85, ORC2, PABPC1, PABPC4, PAXIP1, PRMT5, PSIP1, PSPC1, RAD18, RANGAP1, RARS, RBBP5, RBM39, RPA1, RPAP2, SF1, SF3B2, SF3B3, SFPQ, SMARCC2, SMARCD1, SNRNP70, SNRPD1, SNX9, U2SURP, SRP68, SYNCRIP, TAF15, TFRC, TKT, TRAP1, TRIM25, TUBA1B, TUBB2A, UBP1, USP39, WDR76, XRCC6, XRN2, ZNF326, DMBT1, DNAJA3, DNAJB11, DPYSL2, DYNLL1, EIF3A, EIF3G, EIF4A2, EMG1, DCPS, IKZF3, IKZF1, MAD2L2, KIAA1429, Hipk2, HIST1H4A, ORF3b, MAPK1, TEAD2, SNRPC, BAG3, TEKT5, BAG4, NFKBID, VPS37C, FAM222B, OLIG3, GCC1, HGS, TEAD4, FBXO17, CIC, GSK3A, ATG7, FBXW12, RUNX2, FOXF2, NAAA, GPR55, BTF3, |
Protein-protein interactors based on sequence similarity (STRING) |
Gene | STRING network |
RUNX1 | |
CBFA2T2 |
- 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 | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000300305 | - | 5 | 8 | 362_402 | 204.33333333333334 | 481.0 | FOXP3 |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000325074 | - | 4 | 7 | 362_402 | 192.33333333333334 | 469.0 | FOXP3 |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000344691 | - | 3 | 6 | 362_402 | 177.33333333333334 | 454.0 | FOXP3 |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000358356 | - | 3 | 5 | 362_402 | 177.33333333333334 | 251.0 | FOXP3 |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000437180 | - | 6 | 9 | 362_402 | 204.33333333333334 | 481.0 | FOXP3 |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000300305 | - | 5 | 8 | 291_371 | 204.33333333333334 | 481.0 | KAT6A |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000325074 | - | 4 | 7 | 291_371 | 192.33333333333334 | 469.0 | KAT6A |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000344691 | - | 3 | 6 | 291_371 | 177.33333333333334 | 454.0 | KAT6A |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000358356 | - | 3 | 5 | 291_371 | 177.33333333333334 | 251.0 | KAT6A |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000437180 | - | 6 | 9 | 291_371 | 204.33333333333334 | 481.0 | KAT6A |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000300305 | - | 5 | 8 | 307_400 | 204.33333333333334 | 481.0 | KAT6B |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000325074 | - | 4 | 7 | 307_400 | 192.33333333333334 | 469.0 | KAT6B |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000344691 | - | 3 | 6 | 307_400 | 177.33333333333334 | 454.0 | KAT6B |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000358356 | - | 3 | 5 | 307_400 | 177.33333333333334 | 251.0 | KAT6B |
Hgene | RUNX1 | chr21:36231771 | chr20:32194762 | ENST00000437180 | - | 6 | 9 | 307_400 | 204.33333333333334 | 481.0 | KAT6B |
Top |
Related Drugs to RUNX1-CBFA2T2 |
Drugs used for this fusion-positive patient. (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
Top |
Related Diseases to RUNX1-CBFA2T2 |
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 | RUNX1 | C1832388 | Platelet Disorder, Familial, with Associated Myeloid Malignancy | 11 | CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | RUNX1 | C0023467 | Leukemia, Myelocytic, Acute | 4 | CGI;CTD_human;GENOMICS_ENGLAND |
Hgene | RUNX1 | C0026998 | Acute Myeloid Leukemia, M1 | 3 | CTD_human |
Hgene | RUNX1 | C1879321 | Acute Myeloid Leukemia (AML-M2) | 3 | CTD_human |
Hgene | RUNX1 | C0023485 | Precursor B-Cell Lymphoblastic Leukemia-Lymphoma | 2 | CTD_human |
Hgene | RUNX1 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
Hgene | RUNX1 | C0006413 | Burkitt Lymphoma | 1 | ORPHANET |
Hgene | RUNX1 | C0017636 | Glioblastoma | 1 | CTD_human |
Hgene | RUNX1 | C0023452 | Childhood Acute Lymphoblastic Leukemia | 1 | CTD_human |
Hgene | RUNX1 | C0023453 | L2 Acute Lymphoblastic Leukemia | 1 | CTD_human |
Hgene | RUNX1 | C0023473 | Myeloid Leukemia, Chronic | 1 | ORPHANET |
Hgene | RUNX1 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Hgene | RUNX1 | C0040034 | Thrombocytopenia | 1 | GENOMICS_ENGLAND |
Hgene | RUNX1 | C0334588 | Giant Cell Glioblastoma | 1 | CTD_human |
Hgene | RUNX1 | C0349639 | Juvenile Myelomonocytic Leukemia | 1 | CTD_human |
Hgene | RUNX1 | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human |
Hgene | RUNX1 | C1292769 | Precursor B-cell lymphoblastic leukemia | 1 | ORPHANET |
Hgene | RUNX1 | C1621958 | Glioblastoma Multiforme | 1 | CTD_human |
Hgene | RUNX1 | C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 1 | CTD_human |
Hgene | RUNX1 | C2713368 | Hematopoetic Myelodysplasia | 1 | CTD_human |
Hgene | RUNX1 | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | CTD_human |