FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 11204

FusionGeneSummary for EIF2AK3_UGT2B4

check button Fusion gene summary
Fusion gene informationFusion gene name: EIF2AK3_UGT2B4
Fusion gene ID: 11204
HgeneTgene
Gene symbol

EIF2AK3

UGT2B4

Gene ID

9451

7363

Gene nameeukaryotic translation initiation factor 2 alpha kinase 3UDP glucuronosyltransferase family 2 member B4
SynonymsPEK|PERK|WRSHLUG25|UDPGT2B4|UDPGTH1|UDPGTh-1|UGT2B11
Cytomap

2p11.2

4q13.3

Type of geneprotein-codingprotein-coding
Descriptioneukaryotic translation initiation factor 2-alpha kinase 3PRKR-like endoplasmic reticulum kinasepancreatic EIF2-alpha kinaseUDP-glucuronosyltransferase 2B4UDP glucuronosyltransferase 2 family, polypeptide B4UDP-glucuronyltransferase, family 2, beta-4UDPGT 2B4hyodeoxycholic acidhyodeoxycholic acid-specific UDPGT
Modification date2018052320180523
UniProtAcc

Q9NZJ5

P06133

Ensembl transtripts involved in fusion geneENST00000419748, ENST00000303236, 
ENST00000470706, 
ENST00000381096, 
ENST00000512583, ENST00000305107, 
ENST00000506580, 
Fusion gene scores* DoF score3 X 4 X 2=241 X 1 X 1=1
# samples 41
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: EIF2AK3 [Title/Abstract] AND UGT2B4 [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
HgeneEIF2AK3

GO:0006983

ER overload response

10677345|11907036

HgeneEIF2AK3

GO:0030968

endoplasmic reticulum unfolded protein response

10677345|11907036|22169477

HgeneEIF2AK3

GO:0046777

protein autophosphorylation

10026192|11907036

TgeneUGT2B4

GO:0052695

cellular glucuronidation

20056724


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
ChiTaRS3.1AI114505EIF2AK3chr2

88922517

+UGT2B4chr4

70346360

-
* 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
intron-3CDSENST00000419748ENST00000381096EIF2AK3chr2

88922517

+UGT2B4chr4

70346360

-
intron-3UTRENST00000419748ENST00000512583EIF2AK3chr2

88922517

+UGT2B4chr4

70346360

-
intron-3UTRENST00000419748ENST00000305107EIF2AK3chr2

88922517

+UGT2B4chr4

70346360

-
intron-5UTRENST00000419748ENST00000506580EIF2AK3chr2

88922517

+UGT2B4chr4

70346360

-
intron-3CDSENST00000303236ENST00000381096EIF2AK3chr2

88922517

+UGT2B4chr4

70346360

-
intron-3UTRENST00000303236ENST00000512583EIF2AK3chr2

88922517

+UGT2B4chr4

70346360

-
intron-3UTRENST00000303236ENST00000305107EIF2AK3chr2

88922517

+UGT2B4chr4

70346360

-
intron-5UTRENST00000303236ENST00000506580EIF2AK3chr2

88922517

+UGT2B4chr4

70346360

-
intron-3CDSENST00000470706ENST00000381096EIF2AK3chr2

88922517

+UGT2B4chr4

70346360

-
intron-3UTRENST00000470706ENST00000512583EIF2AK3chr2

88922517

+UGT2B4chr4

70346360

-
intron-3UTRENST00000470706ENST00000305107EIF2AK3chr2

88922517

+UGT2B4chr4

70346360

-
intron-5UTRENST00000470706ENST00000506580EIF2AK3chr2

88922517

+UGT2B4chr4

70346360

-

Top

FusionProtFeatures for EIF2AK3_UGT2B4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
EIF2AK3

Q9NZJ5

UGT2B4

P06133

Metabolic-stress sensing protein kinase thatphosphorylates the alpha subunit of eukaryotic translationinitiation factor 2 (eIF-2-alpha/EIF2S1) on 'Ser-52' during theunfolded protein response (UPR) and in response to low amino acidavailability. Converts phosphorylated eIF-2-alpha/EIF2S1 either ina global protein synthesis inhibitor, leading to a reduced overallutilization of amino acids, or to a translation initiationactivator of specific mRNAs, such as the transcriptional activatorATF4, and hence allowing ATF4-mediated reprogramming of amino acidbiosynthetic gene expression to alleviate nutrient depletion.Serves as a critical effector of unfolded protein response (UPR)-induced G1 growth arrest due to the loss of cyclin-D1 (CCND1).Involved in control of mitochondrial morphology and function.{ECO:0000250|UniProtKB:Q9Z2B5}.

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


Top

FusionGeneSequence for EIF2AK3_UGT2B4


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).

Top

FusionGenePPI for EIF2AK3_UGT2B4


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


Top

RelatedDrugs for EIF2AK3_UGT2B4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for EIF2AK3_UGT2B4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneEIF2AK3C0038220Status Epilepticus1CTD_human
HgeneEIF2AK3C0038868Progressive supranuclear palsy1CTD_human
HgeneEIF2AK3C0151744Myocardial Ischemia1CTD_human
HgeneEIF2AK3C0432217Wolcott-Rallison syndrome1CTD_human;ORPHANET;UNIPROT