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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: 16460

FusionGeneSummary for HMGB2_EARS2

check button Fusion gene summary
Fusion gene informationFusion gene name: HMGB2_EARS2
Fusion gene ID: 16460
HgeneTgene
Gene symbol

HMGB2

EARS2

Gene ID

3148

124454

Gene namehigh mobility group box 2glutamyl-tRNA synthetase 2, mitochondrial
SynonymsHMG2COXPD12|MSE1|gluRS
Cytomap

4q34.1

16p12.2

Type of geneprotein-codingprotein-coding
Descriptionhigh mobility group protein B2HMG-2high mobility group protein 2high-mobility group (nonhistone chromosomal) protein 2probable glutamate--tRNA ligase, mitochondrialglutamate tRNA ligase 2, mitochondrialglutamate--tRNA ligaseprobable glutamyl-tRNA synthetase, mitochondrial
Modification date2018052320180523
UniProtAcc

P26583

Q5JPH6

Ensembl transtripts involved in fusion geneENST00000296503, ENST00000438704, 
ENST00000446922, 
ENST00000449606, 
ENST00000563459, ENST00000564987, 
ENST00000564501, ENST00000563232, 
Fusion gene scores* DoF score4 X 4 X 1=161 X 1 X 1=1
# samples 41
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(1/1*10)=3.32192809488736
Context

PubMed: HMGB2 [Title/Abstract] AND EARS2 [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
HgeneHMGB2

GO:0001938

positive regulation of endothelial cell proliferation

19811285

HgeneHMGB2

GO:0006357

regulation of transcription by RNA polymerase II

7797075

HgeneHMGB2

GO:0032075

positive regulation of nuclease activity

978439

HgeneHMGB2

GO:0043388

positive regulation of DNA binding

19965638

HgeneHMGB2

GO:0045892

negative regulation of transcription, DNA-templated

9636147

HgeneHMGB2

GO:0045893

positive regulation of transcription, DNA-templated

19965638

HgeneHMGB2

GO:0045944

positive regulation of transcription by RNA polymerase II

19223331|19965638

HgeneHMGB2

GO:0050829

defense response to Gram-negative bacterium

23877675

HgeneHMGB2

GO:0050830

defense response to Gram-positive bacterium

23877675

HgeneHMGB2

GO:0060326

cell chemotaxis

19811285

TgeneEARS2

GO:0006424

glutamyl-tRNA aminoacylation

19805282

TgeneEARS2

GO:0070127

tRNA aminoacylation for mitochondrial protein translation

19805282


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
ChiTaRS3.1AW605160HMGB2chr4

174253196

-EARS2chr16

23535431

+
* 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-3UTRENST00000296503ENST00000449606HMGB2chr4

174253196

-EARS2chr16

23535431

+
intron-3UTRENST00000296503ENST00000563459HMGB2chr4

174253196

-EARS2chr16

23535431

+
intron-5UTRENST00000296503ENST00000564987HMGB2chr4

174253196

-EARS2chr16

23535431

+
intron-intronENST00000296503ENST00000564501HMGB2chr4

174253196

-EARS2chr16

23535431

+
intron-intronENST00000296503ENST00000563232HMGB2chr4

174253196

-EARS2chr16

23535431

+
intron-3UTRENST00000438704ENST00000449606HMGB2chr4

174253196

-EARS2chr16

23535431

+
intron-3UTRENST00000438704ENST00000563459HMGB2chr4

174253196

-EARS2chr16

23535431

+
intron-5UTRENST00000438704ENST00000564987HMGB2chr4

174253196

-EARS2chr16

23535431

+
intron-intronENST00000438704ENST00000564501HMGB2chr4

174253196

-EARS2chr16

23535431

+
intron-intronENST00000438704ENST00000563232HMGB2chr4

174253196

-EARS2chr16

23535431

+
intron-3UTRENST00000446922ENST00000449606HMGB2chr4

174253196

-EARS2chr16

23535431

+
intron-3UTRENST00000446922ENST00000563459HMGB2chr4

174253196

-EARS2chr16

23535431

+
intron-5UTRENST00000446922ENST00000564987HMGB2chr4

174253196

-EARS2chr16

23535431

+
intron-intronENST00000446922ENST00000564501HMGB2chr4

174253196

-EARS2chr16

23535431

+
intron-intronENST00000446922ENST00000563232HMGB2chr4

174253196

-EARS2chr16

23535431

+

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FusionProtFeatures for HMGB2_EARS2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
HMGB2

P26583

EARS2

Q5JPH6

Multifunctional protein with various roles in differentcellular compartments. May act in a redox sensitive manner. In thenucleus is an abundant chromatin-associated non-histone proteininvolved in transcription, chromatin remodeling and V(D)Jrecombination and probably other processes. Binds DNA with apreference to non-canonical DNA structures such as single-strandedDNA. Can bent DNA and enhance DNA flexibility by looping thusproviding a mechanism to promote activities on various genepromoters by enhancing transcription factor binding and/orbringing distant regulatory sequences into close proximity(PubMed:7797075, PubMed:11909973, PubMed:19522541,PubMed:18413230, PubMed:19965638, PubMed:20123072). Involved inV(D)J recombination by acting as a cofactor of the RAG complex:acts by stimulating cleavage and RAG protein binding at the 23 bpspacer of conserved recombination signal sequences (RSS) (Bysimilarity). Proposed to be involved in the innate immune responseto nucleic acids by acting as a promiscuous immunogenic DNA/RNAsensor which cooperates with subsequent discriminative sensing byspecific pattern recognition receptors (By similarity). In theextracellular compartment acts as a chemokine. Promotesproliferation and migration of endothelial cells implicatingAGER/RAGE (PubMed:19811285). Has antimicrobial activity ingastrointestinal epithelial tissues (PubMed:23877675). Involved ininflammatory response to antigenic stimulus coupled withproinflammatory activity (By similarity). Involved in modulationof neurogenesis probably by regulation of neural stemproliferation (By similarity). Involved in articular cartilagesurface maintenance implicating LEF1 and the Wnt/beta-cateninpathway (By similarity). {ECO:0000250|UniProtKB:P09429,ECO:0000250|UniProtKB:P30681, ECO:0000269|PubMed:11909973,ECO:0000269|PubMed:18413230, ECO:0000269|PubMed:19522541,ECO:0000269|PubMed:19811285, ECO:0000269|PubMed:19965638,ECO:0000269|PubMed:23877675, ECO:0000269|PubMed:7797075,ECO:0000305|PubMed:20123072}. Catalyzes the attachment of glutamate to tRNA(Glu) in atwo-step reaction: glutamate is first activated by ATP to formGlu-AMP and then transferred to the acceptor end of tRNA(Glu).{ECO:0000250}.

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 HMGB2_EARS2


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 HMGB2_EARS2


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 HMGB2_EARS2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneEARS2Q5JPH6DB00142Glutamic AcidProbable glutamate--tRNA ligase, mitochondrialsmall moleculeapproved|nutraceutical

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RelatedDiseases for HMGB2_EARS2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneHMGB2C0028754Obesity1CTD_human
HgeneHMGB2C0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneHMGB2C2239176Liver carcinoma1CTD_human
TgeneEARS2C3554079COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 123ORPHANET;UNIPROT