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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 30217

FusionGeneSummary for RAF1_GXYLT2

check button Fusion gene summary
Fusion gene informationFusion gene name: RAF1_GXYLT2
Fusion gene ID: 30217
HgeneTgene
Gene symbol

RAF1

GXYLT2

Gene ID

5894

727936

Gene nameRaf-1 proto-oncogene, serine/threonine kinaseglucoside xylosyltransferase 2
SynonymsCMD1NN|CRAF|NS5|Raf-1|c-RafGLT8D4
Cytomap

3p25.2

3p13

Type of geneprotein-codingprotein-coding
DescriptionRAF 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 leukemiaglucoside xylosyltransferase 2glycosyltransferase 8 domain containing 4glycosyltransferase 8 domain-containing protein 4
Modification date2018052320180519
UniProtAcc

P04049

A0PJZ3

Ensembl transtripts involved in fusion geneENST00000251849, ENST00000442415, 
ENST00000534997, ENST00000542177, 
ENST00000389617, 
Fusion gene scores* DoF score13 X 7 X 14=12745 X 3 X 4=60
# samples 275
** MAII scorelog2(27/1274*10)=-2.23833396520547
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RAF1 [Title/Abstract] AND GXYLT2 [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneRAF1

GO:0000186

activation of MAPKK activity

10644344

HgeneRAF1

GO:0007190

activation of adenylate cyclase activity

15385642

HgeneRAF1

GO:0008285

negative regulation of cell proliferation

9765203

HgeneRAF1

GO:0031333

negative regulation of protein complex assembly

19667065

HgeneRAF1

GO:0033138

positive regulation of peptidyl-serine phosphorylation

19667065

HgeneRAF1

GO:0043066

negative regulation of apoptotic process

19667065

TgeneGXYLT2

GO:0016266

O-glycan processing

19940119


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVPRADTCGA-EJ-5497-01ARAF1chr3

12705312

-GXYLT2chr3

72957518

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5UTR-3CDSENST00000251849ENST00000389617RAF1chr3

12705312

-GXYLT2chr3

72957518

+
5UTR-3CDSENST00000442415ENST00000389617RAF1chr3

12705312

-GXYLT2chr3

72957518

+
intron-3CDSENST00000534997ENST00000389617RAF1chr3

12705312

-GXYLT2chr3

72957518

+
5UTR-3CDSENST00000542177ENST00000389617RAF1chr3

12705312

-GXYLT2chr3

72957518

+

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FusionProtFeatures for RAF1_GXYLT2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RAF1

P04049

GXYLT2

A0PJZ3

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}. Glycosyltransferase which elongates the O-linked glucoseattached to EGF-like repeats in the extracellular domain of Notchproteins by catalyzing the addition of xylose.{ECO:0000269|PubMed:19940119}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for RAF1_GXYLT2


check button 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_GXYLT2


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
RAF1YWHAQ, 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, TRIM25GXYLT2FBL, SRPK2, MGAT4C, CD70, NEUROG3, HLA-DPA1, SCGB2A2, KCNC4, KLRG2, TRIM25


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for RAF1_GXYLT2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneRAF1P04049DB08896RegorafenibRAF proto-oncogene serine/threonine-protein kinasesmall moleculeapproved
HgeneRAF1P04049DB00398SorafenibRAF proto-oncogene serine/threonine-protein kinasesmall moleculeapproved|investigational
HgeneRAF1P04049DB08862CholecystokininRAF proto-oncogene serine/threonine-protein kinasesmall moleculeapproved|investigational
HgeneRAF1P04049DB08912DabrafenibRAF proto-oncogene serine/threonine-protein kinasesmall moleculeapproved|investigational

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RelatedDiseases for RAF1_GXYLT2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRAF1C1969057Noonan Syndrome 53CTD_human;UNIPROT
HgeneRAF1C0007194Hypertrophic Cardiomyopathy2CTD_human;HPO
HgeneRAF1C0028326Noonan Syndrome2CTD_human;ORPHANET
HgeneRAF1C0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneRAF1C0007193Cardiomyopathy, Dilated1CTD_human;HPO
HgeneRAF1C0017638Glioma1CTD_human
HgeneRAF1C0020429Hyperalgesia1CTD_human
HgeneRAF1C0022665Kidney Neoplasm1CTD_human
HgeneRAF1C0023903Liver neoplasms1CTD_human
HgeneRAF1C0024121Lung Neoplasms1CTD_human
HgeneRAF1C0175704LEOPARD Syndrome1CTD_human;ORPHANET
HgeneRAF1C0345967Malignant mesothelioma1CTD_human
HgeneRAF1C1458155Mammary Neoplasms1CTD_human
HgeneRAF1C4014656CARDIOMYOPATHY, DILATED, 1NN1UNIPROT