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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: 8585

FusionGeneSummary for CSF1R_RCOR1

check button Fusion gene summary
Fusion gene informationFusion gene name: CSF1R_RCOR1
Fusion gene ID: 8585
HgeneTgene
Gene symbol

CSF1R

RCOR1

Gene ID

1436

23186

Gene namecolony stimulating factor 1 receptorREST corepressor 1
SynonymsC-FMS|CD115|CSF-1R|CSFR|FIM2|FMS|HDLS|M-CSF-RCOREST|RCOR
Cytomap

5q32

14q32.31-q32.32

Type of geneprotein-codingprotein-coding
Descriptionmacrophage colony-stimulating factor 1 receptorCD115 antigenCSF-1 receptorFMS proto-oncogeneMcDonough feline sarcoma viral (v-fms) oncogene homologmacrophage colony stimulating factor I receptorproto-oncogene c-FmsREST corepressor 1
Modification date2018052720180523
UniProtAcc

P07333

Q9UKL0

Ensembl transtripts involved in fusion geneENST00000286301, ENST00000515239, 
ENST00000543093, 
ENST00000262241, 
ENST00000570597, 
Fusion gene scores* DoF score3 X 3 X 1=96 X 7 X 4=168
# samples 57
** MAII scorelog2(5/9*10)=2.47393118833241
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/168*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CSF1R [Title/Abstract] AND RCOR1 [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
HgeneCSF1R

GO:0018108

peptidyl-tyrosine phosphorylation

20504948

HgeneCSF1R

GO:0046777

protein autophosphorylation

20504948

TgeneRCOR1

GO:0045892

negative regulation of transcription, DNA-templated

10449787

TgeneRCOR1

GO:0070933

histone H4 deacetylation

17555596


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
ChiTaRS3.1BI050908CSF1Rchr5

149449829

+RCOR1chr14

103084883

+
* 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
intron-intronENST00000286301ENST00000262241CSF1Rchr5

149449829

+RCOR1chr14

103084883

+
intron-intronENST00000286301ENST00000570597CSF1Rchr5

149449829

+RCOR1chr14

103084883

+
intron-intronENST00000515239ENST00000262241CSF1Rchr5

149449829

+RCOR1chr14

103084883

+
intron-intronENST00000515239ENST00000570597CSF1Rchr5

149449829

+RCOR1chr14

103084883

+
intron-intronENST00000543093ENST00000262241CSF1Rchr5

149449829

+RCOR1chr14

103084883

+
intron-intronENST00000543093ENST00000570597CSF1Rchr5

149449829

+RCOR1chr14

103084883

+

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FusionProtFeatures for CSF1R_RCOR1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CSF1R

P07333

RCOR1

Q9UKL0

Tyrosine-protein kinase that acts as cell-surfacereceptor for CSF1 and IL34 and plays an essential role in theregulation of survival, proliferation and differentiation ofhematopoietic precursor cells, especially mononuclear phagocytes,such as macrophages and monocytes. Promotes the release ofproinflammatory chemokines in response to IL34 and CSF1, andthereby plays an important role in innate immunity and ininflammatory processes. Plays an important role in the regulationof osteoclast proliferation and differentiation, the regulation ofbone resorption, and is required for normal bone and toothdevelopment. Required for normal male and female fertility, andfor normal development of milk ducts and acinar structures in themammary gland during pregnancy. Promotes reorganization of theactin cytoskeleton, regulates formation of membrane ruffles, celladhesion and cell migration, and promotes cancer cell invasion.Activates several signaling pathways in response to ligandbinding. Phosphorylates PIK3R1, PLCG2, GRB2, SLA2 and CBL.Activation of PLCG2 leads to the production of the cellularsignaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, that then lead to the activation of protein kinaseC family members, especially PRKCD. Phosphorylation of PIK3R1, theregulatory subunit of phosphatidylinositol 3-kinase, leads toactivation of the AKT1 signaling pathway. Activated CSF1R alsomediates activation of the MAP kinases MAPK1/ERK2 and/orMAPK3/ERK1, and of the SRC family kinases SRC, FYN and YES1.Activated CSF1R transmits signals both via proteins that directlyinteract with phosphorylated tyrosine residues in itsintracellular domain, or via adapter proteins, such as GRB2.Promotes activation of STAT family members STAT3, STAT5A and/orSTAT5B. Promotes tyrosine phosphorylation of SHC1 and INPP5D/SHIP-1. Receptor signaling is down-regulated by protein phosphatases,such as INPP5D/SHIP-1, that dephosphorylate the receptor and itsdownstream effectors, and by rapid internalization of theactivated receptor. {ECO:0000269|PubMed:12882960,ECO:0000269|PubMed:15117969, ECO:0000269|PubMed:16170366,ECO:0000269|PubMed:16337366, ECO:0000269|PubMed:16648572,ECO:0000269|PubMed:17121910, ECO:0000269|PubMed:18467591,ECO:0000269|PubMed:18814279, ECO:0000269|PubMed:19193011,ECO:0000269|PubMed:19934330, ECO:0000269|PubMed:20489731,ECO:0000269|PubMed:20504948, ECO:0000269|PubMed:20829061,ECO:0000269|PubMed:7683918}. Essential component of the BHC complex, a corepressorcomplex that represses transcription of neuron-specific genes innon-neuronal cells. The BHC complex is recruited at RE1/NRSE sitesby REST and acts by deacetylating and demethylating specific siteson histones, thereby acting as a chromatin modifier. In the BHCcomplex, it serves as a molecular beacon for the recruitment ofmolecular machinery, including MeCP2 and SUV39H1, that imposessilencing across a chromosomal interval. Plays a central role indemethylation of Lys-4 of histone H3 by promoting demethylaseactivity of KDM1A on core histones and nucleosomal substrates. Italso protects KDM1A from the proteasome. Component of aRCOR/GFI/KDM1A/HDAC complex that suppresses, via histonedeacetylase (HDAC) recruitment, a number of genes implicated inmultilineage blood cell development and controls hematopoieticdifferentiation. {ECO:0000269|PubMed:11171972,ECO:0000269|PubMed:11516394, ECO:0000269|PubMed:12032298,ECO:0000269|PubMed:12399542, ECO:0000269|PubMed:12493763,ECO:0000269|PubMed:16079794, ECO:0000269|PubMed:16140033}.

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 CSF1R_RCOR1


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 CSF1R_RCOR1


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


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 CSF1R_RCOR1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCSF1RP07333DB00619ImatinibMacrophage colony-stimulating factor 1 receptorsmall moleculeapproved
HgeneCSF1RP07333DB01268SunitinibMacrophage colony-stimulating factor 1 receptorsmall moleculeapproved|investigational

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RelatedDiseases for CSF1R_RCOR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCSF1RC3711381Hereditary Diffuse Leukoencephalopathy with Spheroids2ORPHANET;UNIPROT
HgeneCSF1RC0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneCSF1RC0023893Liver Cirrhosis, Experimental1CTD_human
HgeneCSF1RC0027627Neoplasm Metastasis1CTD_human
HgeneCSF1RC0270612Leukoencephalopathies1CTD_human;HPO
HgeneCSF1RC1458155Mammary Neoplasms1CTD_human
TgeneRCOR1C0009375Colonic Neoplasms1CTD_human