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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: 41720

FusionGeneSummary for WARS2_HMGCS2

check button Fusion gene summary
Fusion gene informationFusion gene name: WARS2_HMGCS2
Fusion gene ID: 41720
HgeneTgene
Gene symbol

WARS2

HMGCS2

Gene ID

10352

3158

Gene nametryptophanyl tRNA synthetase 2, mitochondrial3-hydroxy-3-methylglutaryl-CoA synthase 2
SynonymsNEMMLAS|TrpRS-
Cytomap

1p12

1p12

Type of geneprotein-codingprotein-coding
Descriptiontryptophan--tRNA ligase, mitochondrial(Mt)TrpRStryptophan tRNA ligase 2, mitochondrialhydroxymethylglutaryl-CoA synthase, mitochondrial3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)HMG-CoA synthasetesticular tissue protein Li 88
Modification date2018052320180523
UniProtAcc

Q9UGM6

P54868

Ensembl transtripts involved in fusion geneENST00000369426, ENST00000235521, 
ENST00000537870, ENST00000497761, 
ENST00000369406, ENST00000544913, 
ENST00000476640, 
Fusion gene scores* DoF score12 X 5 X 10=6003 X 3 X 2=18
# samples 123
** MAII scorelog2(12/600*10)=-2.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: WARS2 [Title/Abstract] AND HMGCS2 [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

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
TCGALDLIHCTCGA-BC-A216-01AWARS2chr1

119584887

-HMGCS2chr1

120307249

-
* 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-shiftENST00000369426ENST00000369406WARS2chr1

119584887

-HMGCS2chr1

120307249

-
Frame-shiftENST00000369426ENST00000544913WARS2chr1

119584887

-HMGCS2chr1

120307249

-
Frame-shiftENST00000369426ENST00000476640WARS2chr1

119584887

-HMGCS2chr1

120307249

-
Frame-shiftENST00000235521ENST00000369406WARS2chr1

119584887

-HMGCS2chr1

120307249

-
Frame-shiftENST00000235521ENST00000544913WARS2chr1

119584887

-HMGCS2chr1

120307249

-
Frame-shiftENST00000235521ENST00000476640WARS2chr1

119584887

-HMGCS2chr1

120307249

-
Frame-shiftENST00000537870ENST00000369406WARS2chr1

119584887

-HMGCS2chr1

120307249

-
Frame-shiftENST00000537870ENST00000544913WARS2chr1

119584887

-HMGCS2chr1

120307249

-
Frame-shiftENST00000537870ENST00000476640WARS2chr1

119584887

-HMGCS2chr1

120307249

-
intron-3CDSENST00000497761ENST00000369406WARS2chr1

119584887

-HMGCS2chr1

120307249

-
intron-3CDSENST00000497761ENST00000544913WARS2chr1

119584887

-HMGCS2chr1

120307249

-
intron-3CDSENST00000497761ENST00000476640WARS2chr1

119584887

-HMGCS2chr1

120307249

-

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FusionProtFeatures for WARS2_HMGCS2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
WARS2

Q9UGM6

HMGCS2

P54868

Mitochondrial aminoacyl-tRNA synthetase that activateand transfer the amino acids to their corresponding tRNAs duringthe translation of mitochondrial genes and protein synthesis.{ECO:0000305|PubMed:28650581}. This enzyme condenses acetyl-CoA with acetoacetyl-CoA toform HMG-CoA, which is the substrate for HMG-CoA reductase.

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 WARS2_HMGCS2


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 WARS2_HMGCS2


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
WARS2APP, RMND5AHMGCS2YWHAQ, APP, HSD17B10, NFATC1, PDE4DIP


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 WARS2_HMGCS2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneWARS2Q9UGM6DB00150L-TryptophanTryptophan--tRNA ligase, mitochondrialsmall moleculeapproved|nutraceutical|withdrawn

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RelatedDiseases for WARS2_HMGCS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneHMGCS2C27515323-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency3CTD_human;ORPHANET;UNIPROT
TgeneHMGCS2C0009375Colonic Neoplasms1CTD_human
TgeneHMGCS2C0151744Myocardial Ischemia1CTD_human