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Fusion gene ID: 23024 |
FusionGeneSummary for MYH9_RAPGEF1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MYH9_RAPGEF1 | Fusion gene ID: 23024 | Hgene | Tgene | Gene symbol | MYH9 | RAPGEF1 | Gene ID | 4627 | 2889 |
| Gene name | myosin heavy chain 9 | Rap guanine nucleotide exchange factor 1 | |
| Synonyms | BDPLT6|DFNA17|EPSTS|FTNS|MHA|NMHC-II-A|NMMHC-IIA|NMMHCA | C3G|GRF2 | |
| Cytomap | 22q12.3 | 9q34.13 | |
| Type of gene | protein-coding | protein-coding | |
| Description | myosin-9cellular myosin heavy chain, type Amyosin, heavy chain 9, non-musclenon-muscle myosin heavy chain 9non-muscle myosin heavy chain Anon-muscle myosin heavy chain IIanon-muscle myosin heavy polypeptide 9nonmuscle myosin heavy chain II-A | rap guanine nucleotide exchange factor 1CRK SH3-binding GNRPRap guanine nucleotide exchange factor (GEF) 1guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene) | |
| Modification date | 20180522 | 20180522 | |
| UniProtAcc | P35579 | Q13905 | |
| Ensembl transtripts involved in fusion gene | ENST00000216181, ENST00000475726, ENST00000401701, | ENST00000372189, ENST00000372195, ENST00000372190, ENST00000481260, | |
| Fusion gene scores | * DoF score | 36 X 33 X 15=17820 | 4 X 4 X 1=16 |
| # samples | 50 | 4 | |
| ** MAII score | log2(50/17820*10)=-5.1554254317472 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/16*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MYH9 [Title/Abstract] AND RAPGEF1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 | MYH9 | GO:0001525 | angiogenesis | 16403913 |
| Hgene | MYH9 | GO:0006509 | membrane protein ectodomain proteolysis | 16186248 |
| Hgene | MYH9 | GO:0030048 | actin filament-based movement | 12237319|15845534 |
| Hgene | MYH9 | GO:0031032 | actomyosin structure organization | 24072716 |
| Tgene | RAPGEF1 | GO:0038180 | nerve growth factor signaling pathway | 17724123 |
| Tgene | RAPGEF1 | GO:0043547 | positive regulation of GTPase activity | 10548487 |
| Tgene | RAPGEF1 | GO:0071320 | cellular response to cAMP | 21840392 |
| Tgene | RAPGEF1 | GO:1990090 | cellular response to nerve growth factor stimulus | 17724123 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | BF988974 | MYH9 | chr22 | 36682838 | + | RAPGEF1 | chr9 | 134464340 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 |
| intron-3CDS | ENST00000216181 | ENST00000372189 | MYH9 | chr22 | 36682838 | + | RAPGEF1 | chr9 | 134464340 | + |
| intron-3CDS | ENST00000216181 | ENST00000372195 | MYH9 | chr22 | 36682838 | + | RAPGEF1 | chr9 | 134464340 | + |
| intron-3CDS | ENST00000216181 | ENST00000372190 | MYH9 | chr22 | 36682838 | + | RAPGEF1 | chr9 | 134464340 | + |
| intron-intron | ENST00000216181 | ENST00000481260 | MYH9 | chr22 | 36682838 | + | RAPGEF1 | chr9 | 134464340 | + |
| intron-3CDS | ENST00000475726 | ENST00000372189 | MYH9 | chr22 | 36682838 | + | RAPGEF1 | chr9 | 134464340 | + |
| intron-3CDS | ENST00000475726 | ENST00000372195 | MYH9 | chr22 | 36682838 | + | RAPGEF1 | chr9 | 134464340 | + |
| intron-3CDS | ENST00000475726 | ENST00000372190 | MYH9 | chr22 | 36682838 | + | RAPGEF1 | chr9 | 134464340 | + |
| intron-intron | ENST00000475726 | ENST00000481260 | MYH9 | chr22 | 36682838 | + | RAPGEF1 | chr9 | 134464340 | + |
| intron-3CDS | ENST00000401701 | ENST00000372189 | MYH9 | chr22 | 36682838 | + | RAPGEF1 | chr9 | 134464340 | + |
| intron-3CDS | ENST00000401701 | ENST00000372195 | MYH9 | chr22 | 36682838 | + | RAPGEF1 | chr9 | 134464340 | + |
| intron-3CDS | ENST00000401701 | ENST00000372190 | MYH9 | chr22 | 36682838 | + | RAPGEF1 | chr9 | 134464340 | + |
| intron-intron | ENST00000401701 | ENST00000481260 | MYH9 | chr22 | 36682838 | + | RAPGEF1 | chr9 | 134464340 | + |
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FusionProtFeatures for MYH9_RAPGEF1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MYH9 | RAPGEF1 |
| Cellular myosin that appears to play a role incytokinesis, cell shape, and specialized functions such assecretion and capping. During cell spreading, plays an importantrole in cytoskeleton reorganization, focal contacts formation (inthe margins but not the central part of spreading cells), andlamellipodial retraction; this function is mechanicallyantagonized by MYH10. {ECO:0000269|PubMed:20052411}. | Guanine nucleotide-releasing protein that binds to SH3domain of CRK and GRB2/ASH. Transduces signals from CRK toactivate RAS. Plays a role in the establishment of basalendothelial barrier function. Plays a role in nerve growth factor(NGF)-induced sustained activation of Rap1 and neurite outgrowth.{ECO:0000269|PubMed:17724123, ECO:0000269|PubMed:21840392,ECO:0000269|PubMed:7806500}. |
| 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 |
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FusionGeneSequence for MYH9_RAPGEF1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for MYH9_RAPGEF1 |
| 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 |
| MYH9 | EPB41, MARK4, ASCC2, MYL9, PRKCE, USP1, USP45, GRB2, RAC1, YWHAZ, EMD, TERF1, TERF2, CBL, PPP2R4, AGO3, YWHAQ, MME, HDAC5, NCOA3, CREBBP, UBE3A, ARRB1, ARRB2, SIRT7, TRAF4, SP1, ISG15, FBXO25, CDK2, CUL1, TRIM72, GRK5, UBASH3B, PIK3R2, SHC1, MYL6, SPTAN1, HSP90AB1, ACTA2, MYH10, HNRNPU, FLNA, ACTR1A, RAB11A, EIF4B, SEL1L, ATP5A1, SEPT7, RALA, HSPA5, TUBA4A, EIF3A, EIF3C, TPM4, MRPS18B, PSME3, HSPA1A, ESR1, TSGA10, EIF4A3, MAGOH, TRAF3IP1, MEN1, HSP90AA1, VCAM1, FN1, IQCB1, ITGA4, PAN2, ACE, ACTB, CSNK2A1, PIK3C3, PPP2CA, CASP4, TARDBP, AKAP10, CDC73, MYH14, OTUD6B, MYL12A, RPA1, RPA2, RPA3, LGR4, IVNS1ABP, TP53, HUWE1, ALK, UBE2I, EED, AMFR, OS9, SYVN1, ATG9A, USP7, HNRNPA1, ATP5L, MYO1E, SRSF5, SSB, NTRK1, ACTA1, ACTG1, ACTN4, ACTN1, AP2A1, AP2B1, ANXA2, APOB, DST, CALD1, CALM1, CALML3, CAPZA1, CAPZA2, CAPZB, CD44, CFL1, CFL2, AP2M1, CLTA, CLTB, CLTC, CPM, DAB2, DAPK3, DBN1, DSG2, CTTN, STOM, EPS15, FLII, FLNB, FYN, GNAI1, GNAI2, GNAS, GNB2, GSN, HIP1, ITPR2, ITPR3, JUP, LGALS1, ABLIM1, LMO7, LSS, LYN, MYO1B, MSN, PDLIM7, ANLN, MYO19, MYO18A, MYLK, MYO1C, MYO5A, MYO5B, MYO6, PPP1R12A, PPP1R12B, NAP1L1, PAWR, PIK3C2A, PLEC, PLS1, PPIA, PPP1CA, PPP1CB, PPP1CC, PSMB10, TWF1, PEX5, RPL22, SIPA1, SORD, SPTBN1, SPTBN2, SSFA2, ST5, SVIL, TCEA2, TMOD1, TNFAIP1, TPM1, TPM2, TPM3, CORO2A, YES1, LUZP1, PICALM, PIP5K1A, SORBS2, IQGAP1, HIP1R, GPRC5A, LRRFIP2, CLINT1, ARHGAP11A, ARHGEF17, SEC16A, WDR1, ARPC4, ARPC3, ARPC1B, ACTR3, ACTR2, ARPC2, BCAP31, FLOT1, BASP1, IMMT, RBPMS, DSTN, TRIOBP, CEP250, AKAP2, TWF2, SYNPO, CEP162, LIMCH1, PALLD, SIPA1L3, MPRIP, COBL, KIF13B, SPECC1L, ATP13A2, MACF1, CORO1C, STX12, GCA, PLEKHG3, RAI14, ZBTB20, AHDC1, PACSIN3, TMOD3, PNMA3, FCF1, CEP83, LIMA1, GTSE1, KDM3B, UACA, CDCA8, BMP2K, UNC45A, MYO5C, GNG12, MUC13, CORO1B, MICAL3, ARHGAP21, SHROOM3, AFAP1, INF2, NARFL, METTL17, AHNAK, EFHD2, CYBRD1, WDR76, DSN1, RNF170, TRIM56, ARPC5L, ANTXR1, LZTS2, PPP1R9B, CEP89, STON2, DOCK7, DIXDC1, SSH2, NEXN, ELMSAN1, SPECC1, CCDC102A, FCHO2, MISP, JMY, CD109, ACTRT1, MYL6B, CCDC50, OARD1, GAS2L3, TTLL6, TPRN, ACTBL2, MCM2, MCM5, SNW1, CDC5L, BOP1, PES1, EGFR, CDH1, C9orf156, MYL3, H2AFY, CYLD, TRIM25, BRCA1, HDAC6 | RAPGEF1 | BCAR1, HCK, CRKL, NEDD9, GRB2, CRK, SHC1, CBL, ATXN1, MBIP, RPS15, SLC20A1, MOV10, NXF1, ABL1, EGFR, SPATS2L, RAP1A, RAP2B |
| - 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 |
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RelatedDrugs for MYH9_RAPGEF1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | MYH9 | P35579 | DB11638 | Artenimol | Myosin-9 | small molecule | approved|investigational |
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RelatedDiseases for MYH9_RAPGEF1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MYH9 | C0403445 | Fechtner syndrome (disorder) | 9 | UNIPROT |
| Hgene | MYH9 | C0398641 | Epstein syndrome (disorder) | 7 | UNIPROT |
| Hgene | MYH9 | C0340978 | May-Hegglin anomaly | 6 | UNIPROT |
| Hgene | MYH9 | C0022661 | Kidney Failure, Chronic | 2 | CTD_human |
| Hgene | MYH9 | C1854520 | SEBASTIAN SYNDROME | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | MYH9 | C0017668 | Focal glomerulosclerosis | 1 | CTD_human |
| Hgene | MYH9 | C0020544 | Renal hypertension | 1 | CTD_human |
| Hgene | MYH9 | C0027706 | Hereditary nephritis | 1 | CTD_human |
| Hgene | MYH9 | C0036341 | Schizophrenia | 1 | PSYGENET |
| Hgene | MYH9 | C1863659 | DEAFNESS, AUTOSOMAL DOMINANT 17 | 1 | UNIPROT |
| Hgene | MYH9 | C2673482 | Increased susceptibility to schizophrenia | 1 | PSYGENET |
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