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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: 9068

FusionGeneSummary for CXCR4_CFLAR

check button Fusion gene summary
Fusion gene informationFusion gene name: CXCR4_CFLAR
Fusion gene ID: 9068
HgeneTgene
Gene symbol

CXCR4

CFLAR

Gene ID

7852

8837

Gene nameC-X-C motif chemokine receptor 4CASP8 and FADD like apoptosis regulator
SynonymsCD184|D2S201E|FB22|HM89|HSY3RR|LAP-3|LAP3|LCR1|LESTR|NPY3R|NPYR|NPYRL|NPYY3R|WHIM|WHIMSCASH|CASP8AP1|CLARP|Casper|FLAME|FLAME-1|FLAME1|FLIP|I-FLICE|MRIT|c-FLIP|c-FLIPL|c-FLIPR|c-FLIPS
Cytomap

2q22.1

2q33.1

Type of geneprotein-codingprotein-coding
DescriptionC-X-C chemokine receptor type 4CD184 antigenLPS-associated protein 3SDF-1 receptorchemokine (C-X-C motif) receptor 4chemokine receptorfusinleukocyte-derived seven transmembrane domain receptorlipopolysaccharide-associated protein 3neuropeptide Y CASP8 and FADD-like apoptosis regulatorFADD-like antiapoptotic molecule 1MACH-related inducer of toxicitycaspase homologcaspase-eight-related proteincaspase-like apoptosis regulatory proteincaspase-related inducer of apoptosiscellular FLICE-like in
Modification date2018052720180523
UniProtAcc

P61073

O15519

Ensembl transtripts involved in fusion geneENST00000409817, ENST00000241393, 
ENST00000466288, 		ENST00000309955, 
ENST00000443227, ENST00000341222, 
ENST00000340870, ENST00000355558, 
ENST00000341582, ENST00000342795, 
ENST00000395148, ENST00000423241, 
ENST00000490965, ENST00000440180, 
ENST00000457277, ENST00000494258, 
ENST00000479953, 
Fusion gene scores* DoF score3 X 1 X 2=69 X 6 X 6=324
# samples 310
** MAII scorelog2(3/6*10)=2.32192809488736log2(10/324*10)=-1.6959938131099
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CXCR4 [Title/Abstract] AND CFLAR [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
HgeneCXCR4

GO:0007186

G-protein coupled receptor signaling pathway

10644702

HgeneCXCR4

GO:0071345

cellular response to cytokine stimulus

21540189

TgeneCFLAR

GO:0060544

regulation of necroptotic process

21737330

TgeneCFLAR

GO:1902042

negative regulation of extrinsic apoptotic signaling pathway via death domain receptors

26582200

TgeneCFLAR

GO:2001237

negative regulation of extrinsic apoptotic signaling pathway

9208847


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
TCGARVDLBCTCGA-FA-A6HN-01ACXCR4chr2

136875616

-CFLARchr2

201994452

+
* 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-5UTRENST00000409817ENST00000309955CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-intronENST00000409817ENST00000443227CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-5UTRENST00000409817ENST00000341222CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-5UTRENST00000409817ENST00000340870CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-5UTRENST00000409817ENST00000355558CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-5UTRENST00000409817ENST00000341582CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-5UTRENST00000409817ENST00000342795CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-5UTRENST00000409817ENST00000395148CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-5UTRENST00000409817ENST00000423241CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-intronENST00000409817ENST00000490965CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-5UTRENST00000409817ENST00000440180CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-intronENST00000409817ENST00000457277CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-intronENST00000409817ENST00000494258CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-intronENST00000409817ENST00000479953CXCR4chr2

136875616

-CFLARchr2

201994452

+
5CDS-5UTRENST00000241393ENST00000309955CXCR4chr2

136875616

-CFLARchr2

201994452

+
5CDS-intronENST00000241393ENST00000443227CXCR4chr2

136875616

-CFLARchr2

201994452

+
5CDS-5UTRENST00000241393ENST00000341222CXCR4chr2

136875616

-CFLARchr2

201994452

+
5CDS-5UTRENST00000241393ENST00000340870CXCR4chr2

136875616

-CFLARchr2

201994452

+
5CDS-5UTRENST00000241393ENST00000355558CXCR4chr2

136875616

-CFLARchr2

201994452

+
5CDS-5UTRENST00000241393ENST00000341582CXCR4chr2

136875616

-CFLARchr2

201994452

+
5CDS-5UTRENST00000241393ENST00000342795CXCR4chr2

136875616

-CFLARchr2

201994452

+
5CDS-5UTRENST00000241393ENST00000395148CXCR4chr2

136875616

-CFLARchr2

201994452

+
5CDS-5UTRENST00000241393ENST00000423241CXCR4chr2

136875616

-CFLARchr2

201994452

+
5CDS-intronENST00000241393ENST00000490965CXCR4chr2

136875616

-CFLARchr2

201994452

+
5CDS-5UTRENST00000241393ENST00000440180CXCR4chr2

136875616

-CFLARchr2

201994452

+
5CDS-intronENST00000241393ENST00000457277CXCR4chr2

136875616

-CFLARchr2

201994452

+
5CDS-intronENST00000241393ENST00000494258CXCR4chr2

136875616

-CFLARchr2

201994452

+
5CDS-intronENST00000241393ENST00000479953CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-5UTRENST00000466288ENST00000309955CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-intronENST00000466288ENST00000443227CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-5UTRENST00000466288ENST00000341222CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-5UTRENST00000466288ENST00000340870CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-5UTRENST00000466288ENST00000355558CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-5UTRENST00000466288ENST00000341582CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-5UTRENST00000466288ENST00000342795CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-5UTRENST00000466288ENST00000395148CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-5UTRENST00000466288ENST00000423241CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-intronENST00000466288ENST00000490965CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-5UTRENST00000466288ENST00000440180CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-intronENST00000466288ENST00000457277CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-intronENST00000466288ENST00000494258CXCR4chr2

136875616

-CFLARchr2

201994452

+
intron-intronENST00000466288ENST00000479953CXCR4chr2

136875616

-CFLARchr2

201994452

+

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FusionProtFeatures for CXCR4_CFLAR


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CXCR4

P61073

CFLAR

O15519

Receptor for the C-X-C chemokine CXCL12/SDF-1 thattransduces a signal by increasing intracellular calcium ion levelsand enhancing MAPK1/MAPK3 activation. Acts as a receptor forextracellular ubiquitin; leading to enhanced intracellular calciumions and reduced cellular cAMP levels. Involved in hematopoiesisand in cardiac ventricular septum formation. Also plays anessential role in vascularization of the gastrointestinal tract,probably by regulating vascular branching and/or remodelingprocesses in endothelial cells. Involved in cerebellardevelopment. In the CNS, could mediate hippocampal-neuronsurvival. {ECO:0000269|PubMed:10074102,ECO:0000269|PubMed:10644702, ECO:0000269|PubMed:10825158,ECO:0000269|PubMed:11276205, ECO:0000269|PubMed:17197449,ECO:0000269|PubMed:20048153, ECO:0000269|PubMed:20228059,ECO:0000269|PubMed:20505072, ECO:0000269|PubMed:8752280,ECO:0000269|PubMed:8752281}. (Microbial infection) Acts as a coreceptor (CD4 beingthe primary receptor) for human immunodeficiency virus-1/HIV-1 X4isolates and as a primary receptor for some HIV-2 isolates.Promotes Env-mediated fusion of the virus (PubMed:9427609,PubMed:10074122, PubMed:10756055). {ECO:0000269|PubMed:10074122,ECO:0000269|PubMed:10756055, ECO:0000269|PubMed:9427609}. (Microbial infection) Binds bacterial lipopolysaccharide(LPS) et mediates LPS-induced inflammatory response, including TNFsecretion by monocytes. {ECO:0000269|PubMed:11276205}.

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 CXCR4_CFLAR


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 CXCR4_CFLAR


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
CXCR4CCR5, JAK3, JAK2, PTPN6, ADRBK2, PTK2, SOCS3, CD4, ITCH, USP14, STAM, CAV1, PTPN11, CXCL12, ATP13A2, ST13, P4HB, MYBL2, CXCR5, GNA13, B2M, HLA-B, GOLT1B, TMEM63B, CD79B, LPAR1, IPPK, VIPR2, GCNT3, B4GAT1, TMEM171, CCDC107, NTRK3, NT5E, SLC1A1CFLARSF3B3, DOK2, CASP8, CASP10, RIPK2, FADD, FAS, CASP3, TRAF1, TRAF2, CFLAR, TNFRSF10A, TNFRSF10B, NOD1, TRAF3, RIPK1, RAF1, BCL2L1, DEDD2, DEDD, MAP3K14, NOL3, TP53, ITCH, XRCC6, TNFSF10, ATG3, CBLB, DAXX, FASLG, STUB1, HSP90AA1, SPATS1, SMAD3, GSN, TICAM1, PLIN5, REV3L, USP8


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 CXCR4_CFLAR


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneCXCR4P61073DB00452FramycetinC-X-C chemokine receptor type 4small moleculeapproved
HgeneCXCR4P61073DB06809PlerixaforC-X-C chemokine receptor type 4small moleculeapproved

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RelatedDiseases for CXCR4_CFLAR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCXCR4C0027627Neoplasm Metastasis2CTD_human
HgeneCXCR4C3495559Juvenile arthritis2CTD_human
HgeneCXCR4C0003873Rheumatoid Arthritis1CTD_human
HgeneCXCR4C0007621Neoplastic Cell Transformation1CTD_human
HgeneCXCR4C0027626Neoplasm Invasiveness1CTD_human
HgeneCXCR4C0027796Neuralgia1CTD_human
HgeneCXCR4C0472817WHIM syndrome1CTD_human;ORPHANET
HgeneCXCR4C1458155Mammary Neoplasms1CTD_human
TgeneCFLARC0019829Hodgkin Disease1CTD_human
TgeneCFLARC0023418leukemia1CTD_human
TgeneCFLARC0030297Pancreatic Neoplasm1CTD_human
TgeneCFLARC1955906Lymphoma, Extranodal NK-T-Cell1CTD_human
TgeneCFLARC3463824MYELODYSPLASTIC SYNDROME1CTD_human