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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: 10934

FusionGeneSummary for EDF1_ASPSCR1

check button Fusion gene summary
Fusion gene informationFusion gene name: EDF1_ASPSCR1
Fusion gene ID: 10934
HgeneTgene
Gene symbol

EDF1

ASPSCR1

Gene ID

8721

79058

Gene nameendothelial differentiation related factor 1ASPSCR1, UBX domain containing tether for SLC2A4
SynonymsCFAP280|EDF-1|MBF1ASPCR1|ASPL|ASPS|RCC17|TUG|UBXD9|UBXN9
Cytomap

9q34.3

17q25.3

Type of geneprotein-codingprotein-coding
Descriptionendothelial differentiation-related factor 1multiprotein bridging factor 1tether containing UBX domain for GLUT4UBX domain protein 9UBX domain-containing protein 9alveolar soft part sarcoma chromosomal region candidate gene 1 proteinalveolar soft part sarcoma chromosome region, candidate 1alveolar soft part sarcoma locusr
Modification date2018052320180519
UniProtAcc

O60869

Q9BZE9

Ensembl transtripts involved in fusion geneENST00000371649, ENST00000224073, 
ENST00000371648, 
ENST00000306729, 
ENST00000306739, ENST00000580534, 
ENST00000581647, ENST00000582404, 
Fusion gene scores* DoF score3 X 3 X 3=276 X 5 X 6=180
# samples 36
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: EDF1 [Title/Abstract] AND ASPSCR1 [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
HgeneEDF1

GO:0043388

positive regulation of DNA binding

10567391


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
TCGALDUCSTCGA-N5-A4RA-01AEDF1chr9

139757358

-ASPSCR1chr17

79974352

+
* 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-shitENST00000371649ENST00000306729EDF1chr9

139757358

-ASPSCR1chr17

79974352

+
Frame-shitENST00000371649ENST00000306739EDF1chr9

139757358

-ASPSCR1chr17

79974352

+
Frame-shitENST00000371649ENST00000580534EDF1chr9

139757358

-ASPSCR1chr17

79974352

+
5CDS-intronENST00000371649ENST00000581647EDF1chr9

139757358

-ASPSCR1chr17

79974352

+
5CDS-3UTRENST00000371649ENST00000582404EDF1chr9

139757358

-ASPSCR1chr17

79974352

+
Frame-shitENST00000224073ENST00000306729EDF1chr9

139757358

-ASPSCR1chr17

79974352

+
Frame-shitENST00000224073ENST00000306739EDF1chr9

139757358

-ASPSCR1chr17

79974352

+
Frame-shitENST00000224073ENST00000580534EDF1chr9

139757358

-ASPSCR1chr17

79974352

+
5CDS-intronENST00000224073ENST00000581647EDF1chr9

139757358

-ASPSCR1chr17

79974352

+
5CDS-3UTRENST00000224073ENST00000582404EDF1chr9

139757358

-ASPSCR1chr17

79974352

+
intron-3CDSENST00000371648ENST00000306729EDF1chr9

139757358

-ASPSCR1chr17

79974352

+
intron-3CDSENST00000371648ENST00000306739EDF1chr9

139757358

-ASPSCR1chr17

79974352

+
intron-3CDSENST00000371648ENST00000580534EDF1chr9

139757358

-ASPSCR1chr17

79974352

+
intron-intronENST00000371648ENST00000581647EDF1chr9

139757358

-ASPSCR1chr17

79974352

+
intron-3UTRENST00000371648ENST00000582404EDF1chr9

139757358

-ASPSCR1chr17

79974352

+

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FusionProtFeatures for EDF1_ASPSCR1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EDF1

O60869

ASPSCR1

Q9BZE9

Transcriptional coactivator stimulating NR5A1 andligand-dependent NR1H3/LXRA and PPARG transcriptional activities.Enhances the DNA-binding activity of ATF1, ATF2, CREB1 and NR5A1.Regulates nitric oxid synthase activity probably by sequesteringcalmodulin in the cytoplasm. May function in endothelial cellsdifferentiation, hormone-induced cardiomyocytes hypertrophy andlipid metabolism. {ECO:0000269|PubMed:10567391,ECO:0000269|PubMed:12040021, ECO:0000269|PubMed:15112053,ECO:0000269|PubMed:9813014}. Tethering protein that sequesters GLUT4-containingvesicles in the cytoplasm in the absence of insulin. Modulates theamount of GLUT4 that is available at the cell surface (Bysimilarity). Enhances VCP methylation catalyzed by VCPKMT.{ECO:0000250, ECO:0000269|PubMed:23349634}.

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 EDF1_ASPSCR1


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 EDF1_ASPSCR1


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
EDF1NR5A2, NR1H3, PPARG, RXRA, TBP, NR5A1, JUN, NRL, CEBPA, MAPK6, UBE2I, IDH3G, MEOX2, MOV10, SOX4, DNAJB1, DHX29, IMPDH1, RNASEH2A, HNRNPF, HIST1H3A, EWSR1, DPPA4, NANOG, RC3H1, TRIM25ASPSCR1UBC, VCP, ALPP, NPLOC4, UFD1L, VCPIP1, PHAX, NEDD4, UBXN6, APP, VCPKMT, DCAF11, KRT31, TCF4, TACC3, ADAMTSL4, KRTAP10-8, NOTCH2NL, EZH2, GAPDH, GLUL, UBXN2B, HPD, MAT1A, NSF, AGL, BANF1, DERA, YTHDF1, YTHDF2, NTRK1, UBXN2A, UBXN7, NSFL1C, UBXN10, FAF1, KCTD3, FAM136A, SHKBP1, HAO2, ASNA1, HK1, HACL1, SERPINB2, GLTP, FADS1


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 EDF1_ASPSCR1


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 EDF1_ASPSCR1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource