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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: 14034

FusionGeneSummary for FTL_CXCR4

check button Fusion gene summary
Fusion gene informationFusion gene name: FTL_CXCR4
Fusion gene ID: 14034
HgeneTgene
Gene symbol

FTL

CXCR4

Gene ID

2512

7852

Gene nameferritin light chainC-X-C motif chemokine receptor 4
SynonymsLFTD|NBIA3CD184|D2S201E|FB22|HM89|HSY3RR|LAP-3|LAP3|LCR1|LESTR|NPY3R|NPYR|NPYRL|NPYY3R|WHIM|WHIMS
Cytomap

19q13.33

2q22.1

Type of geneprotein-codingprotein-coding
Descriptionferritin light chainferritin L subunitferritin L-chainferritin light polypeptide-like 3ferritin, light polypeptideC-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
Modification date2018052320180527
UniProtAcc

P02792

P61073

Ensembl transtripts involved in fusion geneENST00000331825, ENST00000409817, 
ENST00000241393, ENST00000466288, 
Fusion gene scores* DoF score13 X 16 X 4=8323 X 3 X 2=18
# samples 173
** MAII scorelog2(17/832*10)=-2.29104878200339
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: FTL [Title/Abstract] AND CXCR4 [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
TgeneCXCR4

GO:0007186

G-protein coupled receptor signaling pathway

10644702

TgeneCXCR4

GO:0071345

cellular response to cytokine stimulus

21540189


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
ChiTaRS3.1CD101873FTLchr19

49468728

+CXCR4chr2

136871977

-
* 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-3UTRENST00000331825ENST00000409817FTLchr19

49468728

+CXCR4chr2

136871977

-
5UTR-3UTRENST00000331825ENST00000241393FTLchr19

49468728

+CXCR4chr2

136871977

-
5UTR-intronENST00000331825ENST00000466288FTLchr19

49468728

+CXCR4chr2

136871977

-

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FusionProtFeatures for FTL_CXCR4


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

P02792

CXCR4

P61073

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 FTL_CXCR4


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 FTL_CXCR4


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 FTL_CXCR4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCXCR4P61073DB00452FramycetinC-X-C chemokine receptor type 4small moleculeapproved
TgeneCXCR4P61073DB06809PlerixaforC-X-C chemokine receptor type 4small moleculeapproved

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RelatedDiseases for FTL_CXCR4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneFTLC0011581Depressive disorder1CTD_human
HgeneFTLC0012715Iron Metabolism Disorders1CTD_human
HgeneFTLC0022548Keloid1CTD_human
HgeneFTLC0027626Neoplasm Invasiveness1CTD_human
HgeneFTLC0027627Neoplasm Metastasis1CTD_human
HgeneFTLC0028754Obesity1CTD_human
HgeneFTLC0029408Degenerative polyarthritis1CTD_human
HgeneFTLC0033975Psychotic Disorders1PSYGENET
HgeneFTLC0349204Nonorganic psychosis1PSYGENET
HgeneFTLC0751870Heredodegenerative Disorders, Nervous System1CTD_human
HgeneFTLC1833213Hyperferritinemia, hereditary, with congenital cataracts1CTD_human;ORPHANET;UNIPROT
HgeneFTLC1853578Neuroferritinopathy1CTD_human;ORPHANET;UNIPROT
TgeneCXCR4C0027627Neoplasm Metastasis2CTD_human
TgeneCXCR4C3495559Juvenile arthritis2CTD_human
TgeneCXCR4C0003873Rheumatoid Arthritis1CTD_human
TgeneCXCR4C0007621Neoplastic Cell Transformation1CTD_human
TgeneCXCR4C0027626Neoplasm Invasiveness1CTD_human
TgeneCXCR4C0027796Neuralgia1CTD_human
TgeneCXCR4C0472817WHIM syndrome1CTD_human;ORPHANET
TgeneCXCR4C1458155Mammary Neoplasms1CTD_human