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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: 27622

FusionGeneSummary for PLEKHF1_EIF3B

check button Fusion gene summary
Fusion gene informationFusion gene name: PLEKHF1_EIF3B
Fusion gene ID: 27622
HgeneTgene
Gene symbol

PLEKHF1

EIF3B

Gene ID

79156

8662

Gene namepleckstrin homology and FYVE domain containing 1eukaryotic translation initiation factor 3 subunit B
SynonymsAPPD|LAPF|PHAFIN1|ZFYVE15EIF3-ETA|EIF3-P110|EIF3-P116|EIF3S9|PRT1
Cytomap

19q12

7p22.3

Type of geneprotein-codingprotein-coding
Descriptionpleckstrin homology domain-containing family F member 1PH and FYVE domain-containing protein 1PH domain-containing family F member 1apoptosis-inducing protein Dlysosome-associated apoptosis-inducing protein containing PH and FYVE domainsphafin 1pleceukaryotic translation initiation factor 3 subunit Beukaryotic translation initiation factor 3 subunit 9eukaryotic translation initiation factor 3, subunit 9 (eta, 116kD)eukaryotic translation initiation factor 3, subunit 9 eta, 116kDaprt1 homolog
Modification date2018052320180523
UniProtAcc

Q96S99

P55884

Ensembl transtripts involved in fusion geneENST00000436066, ENST00000592810, 
ENST00000360876, ENST00000397011, 
Fusion gene scores* DoF score4 X 3 X 4=489 X 11 X 5=495
# samples 411
** MAII scorelog2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/495*10)=-2.16992500144231
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PLEKHF1 [Title/Abstract] AND EIF3B [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
HgenePLEKHF1

GO:0010508

positive regulation of autophagy

22115783

TgeneEIF3B

GO:0006413

translational initiation

8995410|17581632

TgeneEIF3B

GO:0006446

regulation of translational initiation

8995410

TgeneEIF3B

GO:0075522

IRES-dependent viral translational initiation

9573242

TgeneEIF3B

GO:0075525

viral translational termination-reinitiation

21347434


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
ChiTaRS3.1AI909918PLEKHF1chr19

30166214

-EIF3Bchr7

2419072

+
* 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
3UTR-3CDSENST00000436066ENST00000360876PLEKHF1chr19

30166214

-EIF3Bchr7

2419072

+
3UTR-3CDSENST00000436066ENST00000397011PLEKHF1chr19

30166214

-EIF3Bchr7

2419072

+
intron-3CDSENST00000592810ENST00000360876PLEKHF1chr19

30166214

-EIF3Bchr7

2419072

+
intron-3CDSENST00000592810ENST00000397011PLEKHF1chr19

30166214

-EIF3Bchr7

2419072

+

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FusionProtFeatures for PLEKHF1_EIF3B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
PLEKHF1

Q96S99

EIF3B

P55884

May induce apoptosis through the lysosomal-mitochondrialpathway. Translocates to the lysosome initiating thepermeabilization of lysosomal membrane (LMP) and resulting in therelease of CTSD and CTSL to the cytoplasm. Triggers the caspase-independent apoptosis by altering mitochondrial membranepermeabilization (MMP) resulting in the release of PDCD8.{ECO:0000269|PubMed:16188880}. RNA-binding component of the eukaryotic translationinitiation factor 3 (eIF-3) complex, which is required for severalsteps in the initiation of protein synthesis (PubMed:9388245,PubMed:17581632, PubMed:25849773, PubMed:27462815). The eIF-3complex associates with the 40S ribosome and facilitates therecruitment of eIF-1, eIF-1A, eIF-2:GTP:methionyl-tRNAi and eIF-5to form the 43S pre-initiation complex (43S PIC). The eIF-3complex stimulates mRNA recruitment to the 43S PIC and scanning ofthe mRNA for AUG recognition. The eIF-3 complex is also requiredfor disassembly and recycling of post-termination ribosomalcomplexes and subsequently prevents premature joining of the 40Sand 60S ribosomal subunits prior to initiation (PubMed:9388245,PubMed:17581632). The eIF-3 complex specifically targets andinitiates translation of a subset of mRNAs involved in cellproliferation, including cell cycling, differentiation andapoptosis, and uses different modes of RNA stem-loop binding toexert either translational activation or repression(PubMed:25849773). {ECO:0000255|HAMAP-Rule:MF_03001,ECO:0000269|PubMed:17581632, ECO:0000269|PubMed:25849773,ECO:0000269|PubMed:27462815, ECO:0000269|PubMed:9388245}. (Microbial infection) In case of FCV infection, plays arole in the ribosomal termination-reinitiation event leading tothe translation of VP2 (PubMed:18056426).{ECO:0000269|PubMed:18056426}.

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 PLEKHF1_EIF3B


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 PLEKHF1_EIF3B


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


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 PLEKHF1_EIF3B


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 PLEKHF1_EIF3B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePLEKHF1C0919267ovarian neoplasm1CTD_human
TgeneEIF3BC0019693HIV Infections1CTD_human