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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: 3017

FusionGeneSummary for ASPH_EIF4EBP1

check button Fusion gene summary
Fusion gene informationFusion gene name: ASPH_EIF4EBP1
Fusion gene ID: 3017
HgeneTgene
Gene symbol

ASPH

EIF4EBP1

Gene ID

444

1978

Gene nameaspartate beta-hydroxylaseeukaryotic translation initiation factor 4E binding protein 1
SynonymsAAH|BAH|CASQ2BP1|FDLAB|HAAH|JCTN|junctin4E-BP1|4EBP1|BP-1|PHAS-I
Cytomap

8q12.3

8p11.23

Type of geneprotein-codingprotein-coding
Descriptionaspartyl/asparaginyl beta-hydroxylaseA beta H-J-JASP beta-hydroxylasecardiac junctinhumbugjunctatepeptide-aspartate beta-dioxygenaseeukaryotic translation initiation factor 4E-binding protein 1eIF4E-binding protein 1phosphorylated heat- and acid-stable protein regulated by insulin 1
Modification date2018051920180523
UniProtAcc

Q12797

Q13541

Ensembl transtripts involved in fusion geneENST00000541428, ENST00000379454, 
ENST00000523897, ENST00000522919, 
ENST00000356457, ENST00000518068, 
ENST00000517903, ENST00000445642, 
ENST00000517847, ENST00000522835, 
ENST00000517856, ENST00000389204, 
ENST00000522603, ENST00000379449, 
ENST00000517661, 		ENST00000338825, 
ENST00000520657, 
Fusion gene scores* DoF score11 X 9 X 6=5949 X 1 X 5=45
# samples 129
** MAII scorelog2(12/594*10)=-2.30742852519225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/45*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ASPH [Title/Abstract] AND EIF4EBP1 [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

TgeneEIF4EBP1

GO:0031929

TOR signaling

12150926|22578813

TgeneEIF4EBP1

GO:0045947

negative regulation of translational initiation

22578813


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
TCGARVLIHCTCGA-KR-A7K8-01AASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
* 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-shiftENST00000541428ENST00000338825ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
5CDS-3UTRENST00000541428ENST00000520657ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
Frame-shiftENST00000379454ENST00000338825ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
5CDS-3UTRENST00000379454ENST00000520657ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3CDSENST00000523897ENST00000338825ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3UTRENST00000523897ENST00000520657ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3CDSENST00000522919ENST00000338825ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3UTRENST00000522919ENST00000520657ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3CDSENST00000356457ENST00000338825ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3UTRENST00000356457ENST00000520657ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3CDSENST00000518068ENST00000338825ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3UTRENST00000518068ENST00000520657ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3CDSENST00000517903ENST00000338825ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3UTRENST00000517903ENST00000520657ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3CDSENST00000445642ENST00000338825ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3UTRENST00000445642ENST00000520657ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3CDSENST00000517847ENST00000338825ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3UTRENST00000517847ENST00000520657ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3CDSENST00000522835ENST00000338825ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3UTRENST00000522835ENST00000520657ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3CDSENST00000517856ENST00000338825ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3UTRENST00000517856ENST00000520657ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3CDSENST00000389204ENST00000338825ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3UTRENST00000389204ENST00000520657ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3CDSENST00000522603ENST00000338825ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3UTRENST00000522603ENST00000520657ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3CDSENST00000379449ENST00000338825ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3UTRENST00000379449ENST00000520657ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3CDSENST00000517661ENST00000338825ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+
intron-3UTRENST00000517661ENST00000520657ASPHchr8

62430087

-EIF4EBP1chr8

37914599

+

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FusionProtFeatures for ASPH_EIF4EBP1


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

Q12797

EIF4EBP1

Q13541

Repressor of translation initiation that regulates EIF4Eactivity by preventing its assembly into the eIF4F complex:hypophosphorylated form competes with EIF4G1/EIF4G3 and stronglybinds to EIF4E, leading to repress translation. In contrast,hyperphosphorylated form dissociates from EIF4E, allowinginteraction between EIF4G1/EIF4G3 and EIF4E, leading to initiationof translation. Mediates the regulation of protein translation byhormones, growth factors and other stimuli that signal through theMAP kinase and mTORC1 pathways. {ECO:0000269|PubMed:22578813,ECO:0000269|PubMed:7935836}.

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_EIF4EBP1


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_EIF4EBP1


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, TRIM25EIF4EBP1CHTF8, EIF4E, UBAC1, ATM, MTOR, LRPAP1, PPP2R2A, RPTOR, GSK3B, IRAK4, PRKCA, KLHL25, MAPK1, AGO2, LRRK2, MAPK14, STK3, PPP2R4, PRKDC, LATS1, SLMAP, MLST8, REL, TCF4, AKT2, AKT3, CCDC94, CHMP2A, DDX1, FLNB, GGA1, HNRNPA1, SHMT2, HNRNPAB, AKT1, BUB1, MAPKAPK5, TRIM25


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_EIF4EBP1


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_EIF4EBP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneASPHC1832167Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism1ORPHANET;UNIPROT
TgeneEIF4EBP1C0019693HIV Infections1CTD_human
TgeneEIF4EBP1C0022665Kidney Neoplasm1CTD_human
TgeneEIF4EBP1C0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneEIF4EBP1C0334634Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse1CTD_human