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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: 10877

FusionGeneSummary for ECD_CXCL12

check button Fusion gene summary
Fusion gene informationFusion gene name: ECD_CXCL12
Fusion gene ID: 10877
HgeneTgene
Gene symbol

ECD

CXCL12

Gene ID

11319

6387

Gene nameecdysoneless cell cycle regulatorC-X-C motif chemokine ligand 12
SynonymsGCR2|HSGT1|SGT1IRH|PBSF|SCYB12|SDF1|TLSF|TPAR1
Cytomap

10q22.2

10q11.21

Type of geneprotein-codingprotein-coding
Descriptionprotein ecdysoneless homologecdysoneless homologhuman suppressor of GCR twoprotein SGT1suppressor of GCR2suppressor of S. cerevisiae gcr2stromal cell-derived factor 1chemokine (C-X-C motif) ligand 12intercrine reduced in hepatomaspre-B cell growth-stimulating factor
Modification date2018052320180527
UniProtAcc

O95905

P48061

Ensembl transtripts involved in fusion geneENST00000372979, ENST00000454759, 
ENST00000430082, ENST00000610256, 
ENST00000395795, ENST00000374429, 
ENST00000395793, ENST00000374426, 
ENST00000343575, ENST00000395794, 
ENST00000496375, 
Fusion gene scores* DoF score4 X 3 X 3=364 X 2 X 4=32
# samples 44
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ECD [Title/Abstract] AND CXCL12 [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
HgeneECD

GO:0045944

positive regulation of transcription by RNA polymerase II

19919181

TgeneCXCL12

GO:0033622

integrin activation

29301984

TgeneCXCL12

GO:0045785

positive regulation of cell adhesion

23620790

TgeneCXCL12

GO:0060326

cell chemotaxis

18308860

TgeneCXCL12

GO:0070098

chemokine-mediated signaling pathway

20388803

TgeneCXCL12

GO:0090026

positive regulation of monocyte chemotaxis

18802065

TgeneCXCL12

GO:1902230

negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage

20388803

TgeneCXCL12

GO:1903237

negative regulation of leukocyte tethering or rolling

18308860

TgeneCXCL12

GO:2000406

positive regulation of T cell migration

23620790

TgeneCXCL12

GO:2000669

negative regulation of dendritic cell apoptotic process

15059845


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
TCGARVBRCATCGA-E2-A1LA-01AECDchr10

74923491

-CXCL12chr10

44793345

-
* 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
Frame-shitENST00000372979ENST00000395795ECDchr10

74923491

-CXCL12chr10

44793345

-
5CDS-intronENST00000372979ENST00000374429ECDchr10

74923491

-CXCL12chr10

44793345

-
5CDS-intronENST00000372979ENST00000395793ECDchr10

74923491

-CXCL12chr10

44793345

-
5CDS-intronENST00000372979ENST00000374426ECDchr10

74923491

-CXCL12chr10

44793345

-
5CDS-intronENST00000372979ENST00000343575ECDchr10

74923491

-CXCL12chr10

44793345

-
5CDS-intronENST00000372979ENST00000395794ECDchr10

74923491

-CXCL12chr10

44793345

-
5CDS-intronENST00000372979ENST00000496375ECDchr10

74923491

-CXCL12chr10

44793345

-
Frame-shitENST00000454759ENST00000395795ECDchr10

74923491

-CXCL12chr10

44793345

-
5CDS-intronENST00000454759ENST00000374429ECDchr10

74923491

-CXCL12chr10

44793345

-
5CDS-intronENST00000454759ENST00000395793ECDchr10

74923491

-CXCL12chr10

44793345

-
5CDS-intronENST00000454759ENST00000374426ECDchr10

74923491

-CXCL12chr10

44793345

-
5CDS-intronENST00000454759ENST00000343575ECDchr10

74923491

-CXCL12chr10

44793345

-
5CDS-intronENST00000454759ENST00000395794ECDchr10

74923491

-CXCL12chr10

44793345

-
5CDS-intronENST00000454759ENST00000496375ECDchr10

74923491

-CXCL12chr10

44793345

-
Frame-shitENST00000430082ENST00000395795ECDchr10

74923491

-CXCL12chr10

44793345

-
5CDS-intronENST00000430082ENST00000374429ECDchr10

74923491

-CXCL12chr10

44793345

-
5CDS-intronENST00000430082ENST00000395793ECDchr10

74923491

-CXCL12chr10

44793345

-
5CDS-intronENST00000430082ENST00000374426ECDchr10

74923491

-CXCL12chr10

44793345

-
5CDS-intronENST00000430082ENST00000343575ECDchr10

74923491

-CXCL12chr10

44793345

-
5CDS-intronENST00000430082ENST00000395794ECDchr10

74923491

-CXCL12chr10

44793345

-
5CDS-intronENST00000430082ENST00000496375ECDchr10

74923491

-CXCL12chr10

44793345

-
5UTR-3CDSENST00000610256ENST00000395795ECDchr10

74923491

-CXCL12chr10

44793345

-
5UTR-intronENST00000610256ENST00000374429ECDchr10

74923491

-CXCL12chr10

44793345

-
5UTR-intronENST00000610256ENST00000395793ECDchr10

74923491

-CXCL12chr10

44793345

-
5UTR-intronENST00000610256ENST00000374426ECDchr10

74923491

-CXCL12chr10

44793345

-
5UTR-intronENST00000610256ENST00000343575ECDchr10

74923491

-CXCL12chr10

44793345

-
5UTR-intronENST00000610256ENST00000395794ECDchr10

74923491

-CXCL12chr10

44793345

-
5UTR-intronENST00000610256ENST00000496375ECDchr10

74923491

-CXCL12chr10

44793345

-

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FusionProtFeatures for ECD_CXCL12


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

O95905

CXCL12

P48061

Regulator of p53/TP53 stability and function. InhibitsMDM2-mediated degradation of p53/TP53 possibly by cooperating inpart with TXNIP (PubMed:16849563, PubMed:23880345). May beinvolved transcriptional regulation. In vitro has intrinsictransactivation activity enhanced by EP300. May be atranscriptional activator required for the expression ofglycolytic genes (PubMed:19919181, PubMed:9928932). Involved inregulation of cell cycle progression. Proposed to disrupt Rb-E2Fbinding leading to transcriptional activation of E2F proteins(PubMed:19640839). The cell cycle -regulating function may dependon its RUVBL1-mediated association with the R2TP complex(PubMed:26711270). May play a role in regulation of pre-mRNAsplicing (PubMed:24722212). {ECO:0000269|PubMed:16849563,ECO:0000269|PubMed:19640839, ECO:0000269|PubMed:19919181,ECO:0000269|PubMed:23880345, ECO:0000269|PubMed:26711270,ECO:0000305|PubMed:24722212, ECO:0000305|PubMed:9928932}.

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 ECD_CXCL12


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 ECD_CXCL12


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
ECDNR3C1, EWSR1, PSEN2, PRPF8, PSMD1, PSMC5, PSMD2, PSMC3, TXNIP, TP53, GCFC2, VTI1B, TSSC4, EAPP, SNRNP40, PNKD, AAR2, PTGER3, LIPH, MED4, AHI1, KIAA0753, CEP128, CEP44, CEP63, NPHP1, CEP19, POC1A, RPGRIP1, XPO1, GRIA2, PDK3, MED12, ANAPC15, PIH1D1, CSNK2A1, RUVBL1, TTC27, MYH7, KIAA1143, GPBP1L1, WDR83, GPR156, SNRNP200, ZNHIT2, LYPD4, NCDN, CD2BP2, ECD, EFTUD2, NONO, PARP1, POLR1A, PRPF19, SART3, SLC7A6OS, WDR92CXCL12FN1, CXCL12, PF4, VCAN, CXCR4, DAZAP2


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 ECD_CXCL12


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCXCL12P48061DB06822TinzaparinStromal cell-derived factor 1small moleculeapproved

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RelatedDiseases for ECD_CXCL12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCXCL12C0027626Neoplasm Invasiveness3CTD_human
TgeneCXCL12C0027627Neoplasm Metastasis2CTD_human
TgeneCXCL12C0022116Ischemia1CTD_human
TgeneCXCL12C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCXCL12C0033578Prostatic Neoplasms1CTD_human
TgeneCXCL12C0266929Chronic Periodontitis1CTD_human
TgeneCXCL12C0345967Malignant mesothelioma1CTD_human
TgeneCXCL12C1458155Mammary Neoplasms1CTD_human
TgeneCXCL12C1956346Coronary Artery Disease1CTD_human
TgeneCXCL12C2239176Liver carcinoma1CTD_human