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Fusion gene ID: 30219 |
FusionGeneSummary for RAF1_MSS51 |
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Fusion gene information | Fusion gene name: RAF1_MSS51 | Fusion gene ID: 30219 | Hgene | Tgene | Gene symbol | RAF1 | MSS51 | Gene ID | 5894 | 118490 |
Gene name | Raf-1 proto-oncogene, serine/threonine kinase | MSS51 mitochondrial translational activator | |
Synonyms | CMD1NN|CRAF|NS5|Raf-1|c-Raf | ZMYND17 | |
Cytomap | 3p25.2 | 10q22.2 | |
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 | putative protein MSS51 homolog, mitochondrialMSS51 mitochondrial translational activator homologzinc finger MYND domain-containing protein 17zinc finger, MYND domain containing 17zinc finger, MYND-type containing 17 | |
Modification date | 20180523 | 20180522 | |
UniProtAcc | P04049 | Q4VC12 | |
Ensembl transtripts involved in fusion gene | ENST00000251849, ENST00000442415, ENST00000534997, ENST00000542177, | ENST00000299432, ENST00000372912, | |
Fusion gene scores | * DoF score | 13 X 7 X 14=1274 | 2 X 2 X 2=8 |
# samples | 27 | 3 | |
** MAII score | log2(27/1274*10)=-2.23833396520547 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/8*10)=1.90689059560852 | |
Context | PubMed: RAF1 [Title/Abstract] AND MSS51 [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) |
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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 |
![]() (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 | AA262871 | RAF1 | chr3 | 12637996 | - | MSS51 | chr10 | 75183877 | - | ||
ChiTaRS3.1 | AW968008 | RAF1 | chr3 | 12637996 | - | MSS51 | chr10 | 75183877 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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-3UTR | ENST00000251849 | ENST00000299432 | RAF1 | chr3 | 12637996 | - | MSS51 | chr10 | 75183877 | - |
intron-intron | ENST00000251849 | ENST00000372912 | RAF1 | chr3 | 12637996 | - | MSS51 | chr10 | 75183877 | - |
intron-3UTR | ENST00000442415 | ENST00000299432 | RAF1 | chr3 | 12637996 | - | MSS51 | chr10 | 75183877 | - |
intron-intron | ENST00000442415 | ENST00000372912 | RAF1 | chr3 | 12637996 | - | MSS51 | chr10 | 75183877 | - |
intron-3UTR | ENST00000534997 | ENST00000299432 | RAF1 | chr3 | 12637996 | - | MSS51 | chr10 | 75183877 | - |
intron-intron | ENST00000534997 | ENST00000372912 | RAF1 | chr3 | 12637996 | - | MSS51 | chr10 | 75183877 | - |
intron-3UTR | ENST00000542177 | ENST00000299432 | RAF1 | chr3 | 12637996 | - | MSS51 | chr10 | 75183877 | - |
intron-intron | ENST00000542177 | ENST00000372912 | RAF1 | chr3 | 12637996 | - | MSS51 | chr10 | 75183877 | - |
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FusionProtFeatures for RAF1_MSS51 |
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Hgene | Tgene |
RAF1 | MSS51 |
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}. |
![]() * 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_MSS51 |
![]() (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_MSS51 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RAF1_MSS51 |
![]() (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_MSS51 |
![]() (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 |
Tgene | MSS51 | C0036341 | Schizophrenia | 1 | PSYGENET |