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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: 14573

FusionGeneSummary for GFPT1_EIF2S3

check button Fusion gene summary
Fusion gene informationFusion gene name: GFPT1_EIF2S3
Fusion gene ID: 14573
HgeneTgene
Gene symbol

GFPT1

EIF2S3

Gene ID

2673

1968

Gene nameglutamine--fructose-6-phosphate transaminase 1eukaryotic translation initiation factor 2 subunit gamma
SynonymsCMS12|CMSTA1|GFA|GFAT|GFAT 1|GFAT1|GFAT1m|GFPT|GFPT1L|MSLGEIF2|EIF2G|EIF2gamma|MEHMO|MRXSBRK|eIF-2gA
Cytomap

2p13.3

Xp22.11

Type of geneprotein-codingprotein-coding
Descriptionglutamine--fructose-6-phosphate aminotransferase [isomerizing] 1D-fructose-6-phosphate amidotransferase 1glucosamine--fructose-6-phosphate aminotransferase [isomerizing] 1glutamine:fructose-6-phosphate amidotransferase 1hexosephosphate aminotransferaseukaryotic translation initiation factor 2 subunit 3eIF-2-gamma XeIF-2gXeukaryotic translation initiation factor 2 subunit gamma Xeukaryotic translation initiation factor 2, subunit 3 gamma, 52kDaeukaryotic translation initiation factor 2G
Modification date2018052320180523
UniProtAcc

Q06210

P41091

Ensembl transtripts involved in fusion geneENST00000357308, ENST00000361060, 
ENST00000494201, 
ENST00000253039, 
ENST00000460032, 
Fusion gene scores* DoF score3 X 4 X 6=726 X 6 X 2=72
# samples 66
** MAII scorelog2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GFPT1 [Title/Abstract] AND EIF2S3 [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
TgeneEIF2S3

GO:0006413

translational initiation

10900014


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
ChiTaRS3.1AW580222GFPT1chr2

69560231

+EIF2S3chrX

24080683

-
* 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-3CDSENST00000357308ENST00000253039GFPT1chr2

69560231

+EIF2S3chrX

24080683

-
intron-intronENST00000357308ENST00000460032GFPT1chr2

69560231

+EIF2S3chrX

24080683

-
intron-3CDSENST00000361060ENST00000253039GFPT1chr2

69560231

+EIF2S3chrX

24080683

-
intron-intronENST00000361060ENST00000460032GFPT1chr2

69560231

+EIF2S3chrX

24080683

-
intron-3CDSENST00000494201ENST00000253039GFPT1chr2

69560231

+EIF2S3chrX

24080683

-
intron-intronENST00000494201ENST00000460032GFPT1chr2

69560231

+EIF2S3chrX

24080683

-

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FusionProtFeatures for GFPT1_EIF2S3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GFPT1

Q06210

EIF2S3

P41091

Controls the flux of glucose into the hexosaminepathway. Most likely involved in regulating the availability ofprecursors for N- and O-linked glycosylation of proteins.Regulates the circadian expression of clock genes ARNTL/BMAL1 andCRY1. As a subunit of eukaryotic initiation factor 2 (eIF2),involved in the early steps of protein synthesis. In the presenceof GTP, eIF2 forms a ternary complex with initiator tRNA Met-tRNAiand then recruits the 40S ribosomal complex, a step thatdetermines the rate of protein translation. This step is followedby mRNA binding to form the 43S pre-initiation complex. Junctionof the 60S ribosomal subunit to form the 80S initiation complex ispreceded by hydrolysis of the GTP bound to eIF2 and release of aneIF2-GDP binary complex. In order for eIF2 to recycle and catalyzeanother round of initiation, the GDP bound to eIF2 must exchangewith GTP by way of a reaction catalyzed by eIF2B (By similarity).Along with its paralog on chromosome Y, may contribute tospermatogenesis up to the round spermatid stage (By similarity).{ECO:0000250, ECO:0000250|UniProtKB:Q9Z0N1}.

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 GFPT1_EIF2S3


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 GFPT1_EIF2S3


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 GFPT1_EIF2S3


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 GFPT1_EIF2S3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGFPT1C0028754Obesity1CTD_human
HgeneGFPT1C3552335MYASTHENIC SYNDROME, CONGENITAL, 121UNIPROT