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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: 3665

FusionGeneSummary for AXL_CDRT1

check button Fusion gene summary
Fusion gene informationFusion gene name: AXL_CDRT1
Fusion gene ID: 3665
HgeneTgene
Gene symbol

AXL

CDRT1

Gene ID

558

374286

Gene nameAXL receptor tyrosine kinaseCMT1A duplicated region transcript 1
SynonymsARK|JTK11|Tyro7|UFOC170RF1|C17ORF1|C17ORF1A|FBXW10B|FBXW10P1|HREP|SM25H2
Cytomap

19q13.2

17p12

Type of geneprotein-codingprotein-coding
Descriptiontyrosine-protein kinase receptor UFOAXL oncogeneAXL transforming sequence/geneCMT1A duplicated region transcript 1 proteinCharcot-Marie-Tooth duplicated region transcript 1F-box and WD repeat domain containing 10 pseudogene 1F-box and WD-40 domain protein 10 pseudogene 1
Modification date2018052720180329
UniProtAcc

P30530

O95170

Ensembl transtripts involved in fusion geneENST00000301178, ENST00000359092, 
ENST00000594880, ENST00000593513, 
ENST00000312127, ENST00000354433, 
ENST00000395906, ENST00000583965, 
Fusion gene scores* DoF score7 X 7 X 4=1961 X 1 X 1=1
# samples 71
** MAII scorelog2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(1/1*10)=3.32192809488736
Context

PubMed: AXL [Title/Abstract] AND CDRT1 [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
HgeneAXL

GO:0001961

positive regulation of cytokine-mediated signaling pathway

18840707

HgeneAXL

GO:0006909

phagocytosis

21501828

HgeneAXL

GO:0032689

negative regulation of interferon-gamma production

18840707

HgeneAXL

GO:0032825

positive regulation of natural killer cell differentiation

18840707

HgeneAXL

GO:0035457

cellular response to interferon-alpha

19657094

HgeneAXL

GO:0071222

cellular response to lipopolysaccharide

19657094

HgeneAXL

GO:2000669

negative regulation of dendritic cell apoptotic process

19657094


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
TCGALDPAADTCGA-HZ-A49I-01AAXLchr19

41737203

+CDRT1chr17

15469667

-
* 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
5CDS-intronENST00000301178ENST00000312127AXLchr19

41737203

+CDRT1chr17

15469667

-
5CDS-intronENST00000301178ENST00000354433AXLchr19

41737203

+CDRT1chr17

15469667

-
5CDS-intronENST00000301178ENST00000395906AXLchr19

41737203

+CDRT1chr17

15469667

-
5CDS-intronENST00000301178ENST00000583965AXLchr19

41737203

+CDRT1chr17

15469667

-
5CDS-intronENST00000359092ENST00000312127AXLchr19

41737203

+CDRT1chr17

15469667

-
5CDS-intronENST00000359092ENST00000354433AXLchr19

41737203

+CDRT1chr17

15469667

-
5CDS-intronENST00000359092ENST00000395906AXLchr19

41737203

+CDRT1chr17

15469667

-
5CDS-intronENST00000359092ENST00000583965AXLchr19

41737203

+CDRT1chr17

15469667

-
intron-intronENST00000594880ENST00000312127AXLchr19

41737203

+CDRT1chr17

15469667

-
intron-intronENST00000594880ENST00000354433AXLchr19

41737203

+CDRT1chr17

15469667

-
intron-intronENST00000594880ENST00000395906AXLchr19

41737203

+CDRT1chr17

15469667

-
intron-intronENST00000594880ENST00000583965AXLchr19

41737203

+CDRT1chr17

15469667

-
5UTR-intronENST00000593513ENST00000312127AXLchr19

41737203

+CDRT1chr17

15469667

-
5UTR-intronENST00000593513ENST00000354433AXLchr19

41737203

+CDRT1chr17

15469667

-
5UTR-intronENST00000593513ENST00000395906AXLchr19

41737203

+CDRT1chr17

15469667

-
5UTR-intronENST00000593513ENST00000583965AXLchr19

41737203

+CDRT1chr17

15469667

-

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FusionProtFeatures for AXL_CDRT1


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

P30530

CDRT1

O95170

Receptor tyrosine kinase that transduces signals fromthe extracellular matrix into the cytoplasm by binding growthfactor GAS6 and which is thus regulating many physiologicalprocesses including cell survival, cell proliferation, migrationand differentiation. Ligand binding at the cell surface inducesdimerization and autophosphorylation of AXL. Following activationby ligand, ALX binds and induces tyrosine phosphorylation of PI3-kinase subunits PIK3R1, PIK3R2 and PIK3R3; but also GRB2, PLCG1,LCK and PTPN11. Other downstream substrate candidates for AXL areCBL, NCK2, SOCS1 and TNS2. Recruitment of GRB2 andphosphatidylinositol 3 kinase regulatory subunits by AXL leads tothe downstream activation of the AKT kinase. GAS6/AXL signalingplays a role in various processes such as endothelial cellsurvival during acidification by preventing apoptosis, optimalcytokine signaling during human natural killer cell development,hepatic regeneration, gonadotropin-releasing hormone neuronsurvival and migration, platelet activation, or regulation ofthrombotic responses. Plays also an important role in inhibitionof Toll-like receptors (TLRs)-mediated innate immune response.{ECO:0000269|PubMed:10403904, ECO:0000269|PubMed:11484958,ECO:0000269|PubMed:12364394, ECO:0000269|PubMed:12490074,ECO:0000269|PubMed:15507525, ECO:0000269|PubMed:15733062,ECO:0000269|PubMed:1656220, ECO:0000269|PubMed:18840707}. (Microbial infection) Acts as a receptor for lassa virusand lymphocytic choriomeningitis virus, possibly through GAS6binding to phosphatidyl-serine at the surface of virion envelope.{ECO:0000269|PubMed:17005688, ECO:0000269|PubMed:21501828,ECO:0000269|PubMed:22156524, ECO:0000269|PubMed:25277499}. (Microbial infection) Acts as a receptor for Ebolavirus,possibly through GAS6 binding to phosphatidyl-serine at thesurface of virion envelope. {ECO:0000269|PubMed:22673088}.

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 AXL_CDRT1


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 AXL_CDRT1


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
AXLTENC1, GRB2, LCK, SRC, PIK3R1, PIK3R2, GAS6, CBL, ELAVL1, TNK2, ERRFI1, HSP90AA1, HSPA1A, STUB1, FBXO25, RANBP9, TYRO3, ABL2CDRT1


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 AXL_CDRT1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for AXL_CDRT1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAXLC0007131Non-Small Cell Lung Carcinoma1CTD_human
HgeneAXLC0011881Diabetic Nephropathy1CTD_human
HgeneAXLC0022665Kidney Neoplasm1CTD_human
HgeneAXLC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneAXLC0027809Neurilemmoma1CTD_human
HgeneAXLC0206728Plexiform Neurofibroma1CTD_human