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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: 3021

FusionGeneSummary for ASPH_RSF1

check button Fusion gene summary
Fusion gene informationFusion gene name: ASPH_RSF1
Fusion gene ID: 3021
HgeneTgene
Gene symbol

ASPH

RSF1

Gene ID

444

51773

Gene nameaspartate beta-hydroxylaseremodeling and spacing factor 1
SynonymsAAH|BAH|CASQ2BP1|FDLAB|HAAH|JCTN|junctinHBXAP|RSF-1|XAP8|p325
Cytomap

8q12.3

11q14.1

Type of geneprotein-codingprotein-coding
Descriptionaspartyl/asparaginyl beta-hydroxylaseA beta H-J-JASP beta-hydroxylasecardiac junctinhumbugjunctatepeptide-aspartate beta-dioxygenaseremodeling and spacing factor 1HBV pX-associated protein 8hepatitis B virus x-associated proteinp325 subunit of RSF chromatin-remodeling complex
Modification date2018051920180523
UniProtAcc

Q12797

Q96T23

Ensembl transtripts involved in fusion geneENST00000541428, ENST00000379454, 
ENST00000523897, ENST00000522919, 
ENST00000356457, ENST00000518068, 
ENST00000517903, ENST00000445642, 
ENST00000517847, ENST00000522835, 
ENST00000517856, ENST00000389204, 
ENST00000522603, ENST00000379449, 
ENST00000517661, 
ENST00000308488, 
ENST00000360355, ENST00000480887, 
ENST00000530604, 
Fusion gene scores* DoF score11 X 9 X 6=59410 X 8 X 7=560
# samples 1211
** MAII scorelog2(12/594*10)=-2.30742852519225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/560*10)=-2.34792330342031
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ASPH [Title/Abstract] AND RSF1 [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
HgeneASPH

GO:0045862

positive regulation of proteolysis

18387192

HgeneASPH

GO:0097202

activation of cysteine-type endopeptidase activity

18387192

TgeneRSF1

GO:0006334

nucleosome assembly

12972596

TgeneRSF1

GO:0006338

chromatin remodeling

9836642

TgeneRSF1

GO:0006352

DNA-templated transcription, initiation

9836642

TgeneRSF1

GO:0016584

nucleosome positioning

9836642

TgeneRSF1

GO:0043392

negative regulation of DNA binding

12972596

TgeneRSF1

GO:0045892

negative regulation of transcription, DNA-templated

11944984

TgeneRSF1

GO:0045893

positive regulation of transcription, DNA-templated

11788598

TgeneRSF1

GO:0050434

positive regulation of viral transcription

11788598


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-A2-A3KD-01AASPHchr8

62430087

-RSF1chr11

77413540

-
* 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-shitENST00000541428ENST00000308488ASPHchr8

62430087

-RSF1chr11

77413540

-
Frame-shitENST00000541428ENST00000360355ASPHchr8

62430087

-RSF1chr11

77413540

-
5CDS-5UTRENST00000541428ENST00000480887ASPHchr8

62430087

-RSF1chr11

77413540

-
5CDS-intronENST00000541428ENST00000530604ASPHchr8

62430087

-RSF1chr11

77413540

-
Frame-shitENST00000379454ENST00000308488ASPHchr8

62430087

-RSF1chr11

77413540

-
Frame-shitENST00000379454ENST00000360355ASPHchr8

62430087

-RSF1chr11

77413540

-
5CDS-5UTRENST00000379454ENST00000480887ASPHchr8

62430087

-RSF1chr11

77413540

-
5CDS-intronENST00000379454ENST00000530604ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000523897ENST00000308488ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000523897ENST00000360355ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-5UTRENST00000523897ENST00000480887ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-intronENST00000523897ENST00000530604ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000522919ENST00000308488ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000522919ENST00000360355ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-5UTRENST00000522919ENST00000480887ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-intronENST00000522919ENST00000530604ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000356457ENST00000308488ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000356457ENST00000360355ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-5UTRENST00000356457ENST00000480887ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-intronENST00000356457ENST00000530604ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000518068ENST00000308488ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000518068ENST00000360355ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-5UTRENST00000518068ENST00000480887ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-intronENST00000518068ENST00000530604ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000517903ENST00000308488ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000517903ENST00000360355ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-5UTRENST00000517903ENST00000480887ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-intronENST00000517903ENST00000530604ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000445642ENST00000308488ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000445642ENST00000360355ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-5UTRENST00000445642ENST00000480887ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-intronENST00000445642ENST00000530604ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000517847ENST00000308488ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000517847ENST00000360355ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-5UTRENST00000517847ENST00000480887ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-intronENST00000517847ENST00000530604ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000522835ENST00000308488ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000522835ENST00000360355ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-5UTRENST00000522835ENST00000480887ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-intronENST00000522835ENST00000530604ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000517856ENST00000308488ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000517856ENST00000360355ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-5UTRENST00000517856ENST00000480887ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-intronENST00000517856ENST00000530604ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000389204ENST00000308488ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000389204ENST00000360355ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-5UTRENST00000389204ENST00000480887ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-intronENST00000389204ENST00000530604ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000522603ENST00000308488ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000522603ENST00000360355ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-5UTRENST00000522603ENST00000480887ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-intronENST00000522603ENST00000530604ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000379449ENST00000308488ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000379449ENST00000360355ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-5UTRENST00000379449ENST00000480887ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-intronENST00000379449ENST00000530604ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000517661ENST00000308488ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-3CDSENST00000517661ENST00000360355ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-5UTRENST00000517661ENST00000480887ASPHchr8

62430087

-RSF1chr11

77413540

-
intron-intronENST00000517661ENST00000530604ASPHchr8

62430087

-RSF1chr11

77413540

-

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FusionProtFeatures for ASPH_RSF1


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

Q12797

RSF1

Q96T23

Required for assembly of regular nucleosome arrays bythe RSF chromatin-remodeling complex (PubMed:12972596).Facilitates transcription of hepatitis B virus (HBV) genes by thepX transcription activator. In case of infection by HBV, togetherwith pX, it represses TNF-alpha induced NF-kappa-B transcriptionactivation. Represses transcription when artificially recruited tochromatin by fusion to a heterogeneous DNA binding domain(PubMed:11944984, PubMed:11788598). {ECO:0000269|PubMed:11788598,ECO:0000269|PubMed:11944984, ECO:0000269|PubMed:12972596}.

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 ASPH_RSF1


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 ASPH_RSF1


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
ASPHSQSTM1, CUL3, APP, IQCB1, NOS2, TARDBP, ASNA1, PVRL3, HLA-E, FBLN7, PTCH1, OLFM1, ATL3, TCTN1, CCDC109B, MCU, STEAP3, FAM162A, TMEM160, STX4, SMDT1, NDUFAF1, WDYHV1, LEMD2, LYZL2, TMEM192, NELL2, ECSIT, CD93, STXBP3, BCHE, LRRC59, STX8, VTI1B, SERPINA12, EXD2, BNIP1, ACAD9, HTR2C, SLC7A6OS, TRIM25RSF1NFKB1, SMARCA5, CENPA, SIRT7, SP1, COPS6, CSNK2A1, HIST1H2BG, HIST1H3A, EWSR1, MARK2, ATXN3, KAT6A, MCM2


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 ASPH_RSF1


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 ASPH_RSF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneASPHC1832167Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism1ORPHANET;UNIPROT