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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: 15798

FusionGeneSummary for HACE1_FBLN1

check button Fusion gene summary
Fusion gene informationFusion gene name: HACE1_FBLN1
Fusion gene ID: 15798
HgeneTgene
Gene symbol

HACE1

FBLN1

Gene ID

57531

2192

Gene nameHECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1fibulin 1
SynonymsSPPRSFBLN|FIBL1
Cytomap

6q16.3

22q13.31

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase HACE1HECT-type E3 ubiquitin transferase HACE1fibulin-1
Modification date2018052320180522
UniProtAcc

Q8IYU2

P23142

Ensembl transtripts involved in fusion geneENST00000262903, ENST00000369125, 
ENST00000517995, 
ENST00000348697, 
ENST00000402984, ENST00000262722, 
ENST00000327858, ENST00000442170, 
ENST00000340923, ENST00000476366, 
Fusion gene scores* DoF score3 X 3 X 3=2712 X 11 X 7=924
# samples 313
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(13/924*10)=-2.8293812283876
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HACE1 [Title/Abstract] AND FBLN1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneHACE1

GO:0006511

ubiquitin-dependent protein catabolic process

22036506

HgeneHACE1

GO:0007030

Golgi organization

21988917

HgeneHACE1

GO:0016567

protein ubiquitination

21988917

HgeneHACE1

GO:0070936

protein K48-linked ubiquitination

22036506

TgeneFBLN1

GO:0001933

negative regulation of protein phosphorylation

11792823

TgeneFBLN1

GO:0007162

negative regulation of cell adhesion

11792823

TgeneFBLN1

GO:0007229

integrin-mediated signaling pathway

11792823

TgeneFBLN1

GO:0070373

negative regulation of ERK1 and ERK2 cascade

11792823

TgeneFBLN1

GO:0072378

blood coagulation, fibrin clot formation

7642629

TgeneFBLN1

GO:1900025

negative regulation of substrate adhesion-dependent cell spreading

11792823

TgeneFBLN1

GO:2000146

negative regulation of cell motility

11792823

TgeneFBLN1

GO:2000647

negative regulation of stem cell proliferation

11238726


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-A109-01AHACE1chr6

105280917

-FBLN1chr22

45914562

+
* 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-shitENST00000262903ENST00000348697HACE1chr6

105280917

-FBLN1chr22

45914562

+
Frame-shitENST00000262903ENST00000402984HACE1chr6

105280917

-FBLN1chr22

45914562

+
Frame-shitENST00000262903ENST00000262722HACE1chr6

105280917

-FBLN1chr22

45914562

+
Frame-shitENST00000262903ENST00000327858HACE1chr6

105280917

-FBLN1chr22

45914562

+
Frame-shitENST00000262903ENST00000442170HACE1chr6

105280917

-FBLN1chr22

45914562

+
Frame-shitENST00000262903ENST00000340923HACE1chr6

105280917

-FBLN1chr22

45914562

+
5CDS-intronENST00000262903ENST00000476366HACE1chr6

105280917

-FBLN1chr22

45914562

+
Frame-shitENST00000369125ENST00000348697HACE1chr6

105280917

-FBLN1chr22

45914562

+
Frame-shitENST00000369125ENST00000402984HACE1chr6

105280917

-FBLN1chr22

45914562

+
Frame-shitENST00000369125ENST00000262722HACE1chr6

105280917

-FBLN1chr22

45914562

+
Frame-shitENST00000369125ENST00000327858HACE1chr6

105280917

-FBLN1chr22

45914562

+
Frame-shitENST00000369125ENST00000442170HACE1chr6

105280917

-FBLN1chr22

45914562

+
Frame-shitENST00000369125ENST00000340923HACE1chr6

105280917

-FBLN1chr22

45914562

+
5CDS-intronENST00000369125ENST00000476366HACE1chr6

105280917

-FBLN1chr22

45914562

+
intron-3CDSENST00000517995ENST00000348697HACE1chr6

105280917

-FBLN1chr22

45914562

+
intron-3CDSENST00000517995ENST00000402984HACE1chr6

105280917

-FBLN1chr22

45914562

+
intron-3CDSENST00000517995ENST00000262722HACE1chr6

105280917

-FBLN1chr22

45914562

+
intron-3CDSENST00000517995ENST00000327858HACE1chr6

105280917

-FBLN1chr22

45914562

+
intron-3CDSENST00000517995ENST00000442170HACE1chr6

105280917

-FBLN1chr22

45914562

+
intron-3CDSENST00000517995ENST00000340923HACE1chr6

105280917

-FBLN1chr22

45914562

+
intron-intronENST00000517995ENST00000476366HACE1chr6

105280917

-FBLN1chr22

45914562

+

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FusionProtFeatures for HACE1_FBLN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HACE1

Q8IYU2

FBLN1

P23142


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 HACE1_FBLN1


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 HACE1_FBLN1


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
HACE1RAB4A, RAC1, IRF7, RARG, RARB, RARA, UBE2L3, NOXA1, OPTN, YBX1, HACE1FBLN1MPG, APP, NID1, ELN, FBLN1, FGB, FN1, NOV, CTGF, CACNA1A, ATN1, GFI1B, SKIL, SMAD4, TCF7L2, ADAMTSL4, TAF9, SMAD3, NOTCH3, PLSCR1, TDGF1, LTBP4, TANK, YWHAQ, NEDD1, APOA1, BHLHE40, ADAMTSL2, EDC4, DKK1, LGALS9, FCN1, PLSCR4, SFRP4, KCTD9, PTPRK, PSG1, PSG3, WNT4, ZFP41, IFI30, NLGN3, DDIAS, OCLN, DEFA1, COLQ, WNT7A, IRF9, PAK7, EFEMP1, ZNF517, NELL1, FAM19A3, PLA2G10, CCDC89, TYW3, AGRP, TRIM25, MCPH1


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 HACE1_FBLN1


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 HACE1_FBLN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHACE1C0027819Neuroblastoma1CTD_human;ORPHANET
TgeneFBLN1C0014175Endometriosis1CTD_human
TgeneFBLN1C0033578Prostatic Neoplasms1CTD_human