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Fusion gene ID: 30218 |
FusionGeneSummary for RAF1_IQSEC1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RAF1_IQSEC1 | Fusion gene ID: 30218 | Hgene | Tgene | Gene symbol | RAF1 | IQSEC1 | Gene ID | 5894 | 9922 |
| Gene name | Raf-1 proto-oncogene, serine/threonine kinase | IQ motif and Sec7 domain 1 | |
| Synonyms | CMD1NN|CRAF|NS5|Raf-1|c-Raf | ARF-GEP100|ARFGEP100|BRAG2|GEP100 | |
| Cytomap | 3p25.2 | 3p25.2-p25.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | RAF proto-oncogene serine/threonine-protein kinaseC-Raf proto-oncogene, serine/threonine kinaseOncogene RAF1proto-oncogene c-RAFraf proto-oncogene serine/threonine protein kinasev-raf-1 murine leukemia viral oncogene homolog 1v-raf-1 murine leukemia | IQ motif and SEC7 domain-containing protein 1ADP-ribosylation factors guanine nucleotide-exchange protein 100ADP-ribosylation factors guanine nucleotide-exchange protein 2brefeldin A-resistant ARF-GEF2brefeldin-resistant Arf-GEF 2 protein | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P04049 | Q6DN90 | |
| Ensembl transtripts involved in fusion gene | ENST00000251849, ENST00000442415, ENST00000534997, ENST00000542177, | ENST00000273221, ENST00000473088, | |
| Fusion gene scores | * DoF score | 13 X 7 X 14=1274 | 7 X 5 X 3=105 |
| # samples | 27 | 7 | |
| ** MAII score | log2(27/1274*10)=-2.23833396520547 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/105*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RAF1 [Title/Abstract] AND IQSEC1 [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 | RAF1 | GO:0000186 | activation of MAPKK activity | 10644344 |
| Hgene | RAF1 | GO:0007190 | activation of adenylate cyclase activity | 15385642 |
| Hgene | RAF1 | GO:0008285 | negative regulation of cell proliferation | 9765203 |
| Hgene | RAF1 | GO:0031333 | negative regulation of protein complex assembly | 19667065 |
| Hgene | RAF1 | GO:0033138 | positive regulation of peptidyl-serine phosphorylation | 19667065 |
| Hgene | RAF1 | GO:0043066 | negative regulation of apoptotic process | 19667065 |
| 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 |
| TCGA | RV | BLCA | TCGA-2F-A9KP-01A | RAF1 | chr3 | 12705312 | - | IQSEC1 | chr3 | 12983365 | - |
| * 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 |
| 5UTR-3CDS | ENST00000251849 | ENST00000273221 | RAF1 | chr3 | 12705312 | - | IQSEC1 | chr3 | 12983365 | - |
| 5UTR-5UTR | ENST00000251849 | ENST00000473088 | RAF1 | chr3 | 12705312 | - | IQSEC1 | chr3 | 12983365 | - |
| 5UTR-3CDS | ENST00000442415 | ENST00000273221 | RAF1 | chr3 | 12705312 | - | IQSEC1 | chr3 | 12983365 | - |
| 5UTR-5UTR | ENST00000442415 | ENST00000473088 | RAF1 | chr3 | 12705312 | - | IQSEC1 | chr3 | 12983365 | - |
| intron-3CDS | ENST00000534997 | ENST00000273221 | RAF1 | chr3 | 12705312 | - | IQSEC1 | chr3 | 12983365 | - |
| intron-5UTR | ENST00000534997 | ENST00000473088 | RAF1 | chr3 | 12705312 | - | IQSEC1 | chr3 | 12983365 | - |
| 5UTR-3CDS | ENST00000542177 | ENST00000273221 | RAF1 | chr3 | 12705312 | - | IQSEC1 | chr3 | 12983365 | - |
| 5UTR-5UTR | ENST00000542177 | ENST00000473088 | RAF1 | chr3 | 12705312 | - | IQSEC1 | chr3 | 12983365 | - |
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FusionProtFeatures for RAF1_IQSEC1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RAF1 | IQSEC1 |
| Serine/threonine-protein kinase that acts as aregulatory link between the membrane-associated Ras GTPases andthe MAPK/ERK cascade, and this critical regulatory link functionsas a switch determining cell fate decisions includingproliferation, differentiation, apoptosis, survival and oncogenictransformation. RAF1 activation initiates a mitogen-activatedprotein kinase (MAPK) cascade that comprises a sequentialphosphorylation of the dual-specific MAPK kinases (MAP2K1/MEK1 andMAP2K2/MEK2) and the extracellular signal-regulated kinases(MAPK3/ERK1 and MAPK1/ERK2). The phosphorylated form of RAF1 (onresidues Ser-338 and Ser-339, by PAK1) phosphorylates BAD/Bcl2-antagonist of cell death at 'Ser-75'. Phosphorylates adenylylcyclases: ADCY2, ADCY5 and ADCY6, resulting in their activation.Phosphorylates PPP1R12A resulting in inhibition of the phosphataseactivity. Phosphorylates TNNT2/cardiac muscle troponin T. Canpromote NF-kB activation and inhibit signal transducers involvedin motility (ROCK2), apoptosis (MAP3K5/ASK1 and STK3/MST2),proliferation and angiogenesis (RB1). Can protect cells fromapoptosis also by translocating to the mitochondria where it bindsBCL2 and displaces BAD/Bcl2-antagonist of cell death. RegulatesRho signaling and migration, and is required for normal woundhealing. Plays a role in the oncogenic transformation ofepithelial cells via repression of the TJ protein, occludin (OCLN)by inducing the up-regulation of a transcriptional repressorSNAI2/SLUG, which induces down-regulation of OCLN. Restrictscaspase activation in response to selected stimuli, notably Fasstimulation, pathogen-mediated macrophage apoptosis, and erythroiddifferentiation. {ECO:0000269|PubMed:11427728,ECO:0000269|PubMed:11719507, ECO:0000269|PubMed:15385642,ECO:0000269|PubMed:15618521, ECO:0000269|PubMed:15849194,ECO:0000269|PubMed:16892053, ECO:0000269|PubMed:16924233,ECO:0000269|PubMed:9360956}. | Guanine nucleotide exchange factor for ARF1 and ARF6(PubMed:24058294). Guanine nucleotide exchange factor activity isenhanced by lipid binding (PubMed:24058294). Accelerates GTPbinding by ARFs of all three classes. Guanine nucleotide exchangeprotein for ARF6, mediating internalisation of beta-1 integrin.{ECO:0000269|PubMed:11226253, ECO:0000269|PubMed:16461286,ECO:0000269|PubMed:24058294}. |
| 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 RAF1_IQSEC1 |
| 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 RAF1_IQSEC1 |
| 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 |
| RAF1 | YWHAQ, YWHAG, YWHAZ, SFN, HRAS, VDAC1, PEBP4, CNKSR1, RASD2, CNKSR2, ERAS, SPRY4, SPRY2, YWHAB, OIP5, PHKA2, CCT3, MYC, AR, MRAS, KRAS, LRPAP1, RRAS2, SHOC2, TSC22D3, STK26, MAPK1, MAPK3, PRKCE, BCL2, BCL2L1, PEBP1, MAP2K1, GRB10, NRAS, MAPK8IP3, AKT1, HSP90AA1, GNG4, GNB2, VAV1, RHEB, RAP1A, SRC, FYN, RB1, RBL2, PRKG1, JAK2, YWHAH, CFLAR, CDC25A, BRAF, MAP3K1, PDGFRB, MAP3K5, MAPK7, PHB, BAG1, PAK1, PRKCZ, RRAS, PRPF6, UBE2D2, YWHAE, NR3C1, LCK, LTK, JAK1, XIAP, BIRC2, BIRC3, STUB1, EEF1A1, HSPA8, HSPA5, CALM1, SGK1, NEDD4, SCNN1B, NEDD4L, STK3, BRAP, WDR83, KSR1, LATS1, MAP2K2, RFXANK, PPP1CC, VCP, HSPD1, BAD, BCL6, BIRC7, PIN1, MMS19, PPP2R1A, PPP2R2B, PPP2CA, HSPA4, RAF1, PPP2CB, MAPK8, RBBP8, YY1, PKM, CDK20, HIPK4, TBXA2R, SH3KBP1, ILK, GPRASP2, CDC37, IRS4, FAM96B, HUWE1, RANBP9, TMEM70, PACSIN3, NPLOC4, PRKAR1A, DCAF8, PURA, FYCO1, MYBPC1, COPS7A, MOV10, NXF1, EGFR, CALU, CCT8, DNAJA1, EMD, TIMM50, LOX, ARRB2, AGTR1, CASZ1, MRC2, PDLIM2, HERC2, XPO1, ACOX1, PCDH7, MAD2L1, SYNPO, TMEM63B, EEF1E1, COPS5, SS18L2, NUP133, RPGRIP1L, NCAPG2, NUP107, MSH2, LAS1L, AMER1, NUP160, EIF3D, SPATA7, NPHP4, DYNLL2, DYNLL1, IQCB1, RMDN3, TRIM25 | IQSEC1 | IRAK1, IRAK2, IRF7, APOE, GNAQ, WWOX, AGO2, RNF2, TFDP3, CENPJ, DYNLT1, XPO1, SRPR, CTNNA1, ARF6, FAM196A, APBA2, P4HA2, MLLT6, SKP2, TRIM25, HEY1 |
| - 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 RAF1_IQSEC1 |
| 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 | RAF1 | P04049 | DB08896 | Regorafenib | RAF proto-oncogene serine/threonine-protein kinase | small molecule | approved |
| Hgene | RAF1 | P04049 | DB00398 | Sorafenib | RAF proto-oncogene serine/threonine-protein kinase | small molecule | approved|investigational |
| Hgene | RAF1 | P04049 | DB08862 | Cholecystokinin | RAF proto-oncogene serine/threonine-protein kinase | small molecule | approved|investigational |
| Hgene | RAF1 | P04049 | DB08912 | Dabrafenib | RAF proto-oncogene serine/threonine-protein kinase | small molecule | approved|investigational |
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RelatedDiseases for RAF1_IQSEC1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RAF1 | C1969057 | Noonan Syndrome 5 | 3 | CTD_human;UNIPROT |
| Hgene | RAF1 | C0007194 | Hypertrophic Cardiomyopathy | 2 | CTD_human;HPO |
| Hgene | RAF1 | C0028326 | Noonan Syndrome | 2 | CTD_human;ORPHANET |
| Hgene | RAF1 | C0007131 | Non-Small Cell Lung Carcinoma | 1 | CTD_human |
| Hgene | RAF1 | C0007193 | Cardiomyopathy, Dilated | 1 | CTD_human;HPO |
| Hgene | RAF1 | C0017638 | Glioma | 1 | CTD_human |
| Hgene | RAF1 | C0020429 | Hyperalgesia | 1 | CTD_human |
| Hgene | RAF1 | C0022665 | Kidney Neoplasm | 1 | CTD_human |
| Hgene | RAF1 | C0023903 | Liver neoplasms | 1 | CTD_human |
| Hgene | RAF1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | RAF1 | C0175704 | LEOPARD Syndrome | 1 | CTD_human;ORPHANET |
| Hgene | RAF1 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| Hgene | RAF1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Hgene | RAF1 | C4014656 | CARDIOMYOPATHY, DILATED, 1NN | 1 | UNIPROT |
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