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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: 3763

FusionGeneSummary for BAALC_EIF3E

check button Fusion gene summary
Fusion gene informationFusion gene name: BAALC_EIF3E
Fusion gene ID: 3763
HgeneTgene
Gene symbol

BAALC

EIF3E

Gene ID

79870

3646

Gene nameBAALC, MAP3K1 and KLF4 bindingeukaryotic translation initiation factor 3 subunit E
Synonyms-EIF3-P48|EIF3S6|INT6|eIF3-p46
Cytomap

8q22.3

8q23.1

Type of geneprotein-codingprotein-coding
Descriptionbrain and acute leukemia cytoplasmic proteinBAALC, MEKK1 and KLF4 bindingbrain and acute leukemia, cytoplasmiceukaryotic translation initiation factor 3 subunit EeIF-3 p48eukaryotic translation initiation factor 3 subunit 6eukaryotic translation initiation factor 3 subunit E isoform 2 transcripteukaryotic translation initiation factor 3, subunit 6 (48kD)euka
Modification date2018051920180523
UniProtAcc

Q8WXS3

P60228

Ensembl transtripts involved in fusion geneENST00000309982, ENST00000438105, 
ENST00000297574, ENST00000330955, 
ENST00000306391, ENST00000523754, 
ENST00000220849, ENST00000519030, 
ENST00000519517, 
Fusion gene scores* DoF score3 X 2 X 3=184 X 2 X 4=32
# samples 34
** MAII scorelog2(3/18*10)=0.736965594166206
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: BAALC [Title/Abstract] AND EIF3E [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
TgeneEIF3E

GO:0006413

translational initiation

17581632


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
TCGALDKICHTCGA-KL-8341-01ABAALCchr8

104153285

+EIF3Echr8

109215732

-
* 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-shiftENST00000309982ENST00000220849BAALCchr8

104153285

+EIF3Echr8

109215732

-
Frame-shiftENST00000309982ENST00000519030BAALCchr8

104153285

+EIF3Echr8

109215732

-
5CDS-5UTRENST00000309982ENST00000519517BAALCchr8

104153285

+EIF3Echr8

109215732

-
Frame-shiftENST00000438105ENST00000220849BAALCchr8

104153285

+EIF3Echr8

109215732

-
Frame-shiftENST00000438105ENST00000519030BAALCchr8

104153285

+EIF3Echr8

109215732

-
5CDS-5UTRENST00000438105ENST00000519517BAALCchr8

104153285

+EIF3Echr8

109215732

-
Frame-shiftENST00000297574ENST00000220849BAALCchr8

104153285

+EIF3Echr8

109215732

-
Frame-shiftENST00000297574ENST00000519030BAALCchr8

104153285

+EIF3Echr8

109215732

-
5CDS-5UTRENST00000297574ENST00000519517BAALCchr8

104153285

+EIF3Echr8

109215732

-
Frame-shiftENST00000330955ENST00000220849BAALCchr8

104153285

+EIF3Echr8

109215732

-
Frame-shiftENST00000330955ENST00000519030BAALCchr8

104153285

+EIF3Echr8

109215732

-
5CDS-5UTRENST00000330955ENST00000519517BAALCchr8

104153285

+EIF3Echr8

109215732

-
Frame-shiftENST00000306391ENST00000220849BAALCchr8

104153285

+EIF3Echr8

109215732

-
Frame-shiftENST00000306391ENST00000519030BAALCchr8

104153285

+EIF3Echr8

109215732

-
5CDS-5UTRENST00000306391ENST00000519517BAALCchr8

104153285

+EIF3Echr8

109215732

-
intron-3CDSENST00000523754ENST00000220849BAALCchr8

104153285

+EIF3Echr8

109215732

-
intron-3CDSENST00000523754ENST00000519030BAALCchr8

104153285

+EIF3Echr8

109215732

-
intron-5UTRENST00000523754ENST00000519517BAALCchr8

104153285

+EIF3Echr8

109215732

-

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FusionProtFeatures for BAALC_EIF3E


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

Q8WXS3

EIF3E

P60228

May play a synaptic role at the postsynaptic lipid raftspossibly through interaction with CAMK2A.{ECO:0000250|UniProtKB:Q920K5}. Component of the eukaryotic translation initiationfactor 3 (eIF-3) complex, which is required for several steps inthe initiation of protein synthesis (PubMed:17581632,PubMed:25849773, PubMed:27462815). The eIF-3 complex associateswith the 40S ribosome and facilitates the recruitment of eIF-1,eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5 to form the 43S pre-initiation complex (43S PIC). The eIF-3 complex stimulates mRNArecruitment to the 43S PIC and scanning of the mRNA for AUGrecognition. The eIF-3 complex is also required for disassemblyand recycling of post-termination ribosomal complexes andsubsequently prevents premature joining of the 40S and 60Sribosomal subunits prior to initiation (PubMed:17581632). The eIF-3 complex specifically targets and initiates translation of asubset of mRNAs involved in cell proliferation, including cellcycling, differentiation and apoptosis, and uses different modesof RNA stem-loop binding to exert either translational activationor repression (PubMed:25849773). Required for nonsense-mediatedmRNA decay (NMD); may act in conjunction with UPF2 to divert mRNAsfrom translation to the NMD pathway (PubMed:17468741). Mayinteract with MCM7 and EPAS1 and regulate the proteasome-mediateddegradation of these proteins (PubMed:17310990, PubMed:17324924).{ECO:0000255|HAMAP-Rule:MF_03004, ECO:0000269|PubMed:17310990,ECO:0000269|PubMed:17324924, ECO:0000269|PubMed:17468741,ECO:0000269|PubMed:17581632, ECO:0000269|PubMed:25849773,ECO:0000269|PubMed:27462815}.

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 BAALC_EIF3E


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 BAALC_EIF3E


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
BAALCMDFI, ATXN1, CHEK2, MAP3K1, KLF4, ATP1B3, RNF2, CHD1L, CINP, OSBPL1A, AP1G1EIF3EPRRC2A, GPBP1L1, RUNDC3A, EIF3A, EIF1B, CNTF, SAP18, MAGED1, RGS2, DDX24, HAP1, GPAA1, NSF, EIF3L, CSN3, COPS6, IFIT1, TRIM27, EIF3H, EIF3F, USP20, DCC, PSMD12, EIF3D, PSMC6, FBXW7, NCOA3, EIF3B, NDRG1, ATM, SIRT7, COPS2, CDK2, EIF3C, EIF3G, EIF3I, EIF3J, EIF3K, SHBG, EIF3M, NAP1L4, SMURF1, YWHAE, POLR2C, DDX3X, FN1, VCAM1, SMAD9, ITGA4, CD81, IGSF8, ICAM1, NPM1, FBXO6, DYNC1LI1, EIF3CL, GNB2L1, RPS10, RPS12, RPS18, RPS19, RPS2, RPS20, RPS23, RPS3, RPS3A, LARP1, RPS25, RPS28, RPS8, RPS9, GPRASP2, STAU1, TRIM63, TRIM55, HUWE1, C4orf19, ZDHHC17, RSPH9, UNK, ANP32A, DIEXF, NIP7, NUMA1, SUPT4H1, NTRK1, HERC2, MAPK1IP1L, XPO1, RPL10, ZNF746, CDH1, EIF4A1, PRRC2B, PTPN22, OCRL, CYLD, SOD1, G3BP1, BRCA1


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 BAALC_EIF3E


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 BAALC_EIF3E


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBAALCC0023467Leukemia, Myelocytic, Acute1CTD_human