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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: 23427

FusionGeneSummary for NARS2_HMGB2

check button Fusion gene summary
Fusion gene informationFusion gene name: NARS2_HMGB2
Fusion gene ID: 23427
HgeneTgene
Gene symbol

NARS2

HMGB2

Gene ID

79731

3148

Gene nameasparaginyl-tRNA synthetase 2, mitochondrialhigh mobility group box 2
SynonymsDFNB94|SLM5|asnRSHMG2
Cytomap

11q14.1

4q34.1

Type of geneprotein-codingprotein-coding
Descriptionprobable asparagine--tRNA ligase, mitochondrialasparagine tRNA ligase 2, mitochondrial (putative)asparaginyl-tRNA synthetase 2, mitochondrial (putative)deafness, autosomal recessive 94probable asparaginyl-tRNA synthetase, mitochondrialhigh mobility group protein B2HMG-2high mobility group protein 2high-mobility group (nonhistone chromosomal) protein 2
Modification date2018051920180523
UniProtAcc

Q96I59

P26583

Ensembl transtripts involved in fusion geneENST00000281038, ENST00000528850, 
ENST00000296503, ENST00000438704, 
ENST00000446922, 
Fusion gene scores* DoF score12 X 8 X 5=4803 X 3 X 1=9
# samples 133
** MAII scorelog2(13/480*10)=-1.88452278258006
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NARS2 [Title/Abstract] AND HMGB2 [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
TgeneHMGB2

GO:0001938

positive regulation of endothelial cell proliferation

19811285

TgeneHMGB2

GO:0006357

regulation of transcription by RNA polymerase II

7797075

TgeneHMGB2

GO:0032075

positive regulation of nuclease activity

978439

TgeneHMGB2

GO:0043388

positive regulation of DNA binding

19965638

TgeneHMGB2

GO:0045892

negative regulation of transcription, DNA-templated

9636147

TgeneHMGB2

GO:0045893

positive regulation of transcription, DNA-templated

19965638

TgeneHMGB2

GO:0045944

positive regulation of transcription by RNA polymerase II

19223331|19965638

TgeneHMGB2

GO:0050829

defense response to Gram-negative bacterium

23877675

TgeneHMGB2

GO:0050830

defense response to Gram-positive bacterium

23877675

TgeneHMGB2

GO:0060326

cell chemotaxis

19811285


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
ChiTaRS3.1BQ371623NARS2chr11

78147707

-HMGB2chr4

174254340

-
* 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-3CDSENST00000281038ENST00000296503NARS2chr11

78147707

-HMGB2chr4

174254340

-
intron-3CDSENST00000281038ENST00000438704NARS2chr11

78147707

-HMGB2chr4

174254340

-
intron-3CDSENST00000281038ENST00000446922NARS2chr11

78147707

-HMGB2chr4

174254340

-
intron-3CDSENST00000528850ENST00000296503NARS2chr11

78147707

-HMGB2chr4

174254340

-
intron-3CDSENST00000528850ENST00000438704NARS2chr11

78147707

-HMGB2chr4

174254340

-
intron-3CDSENST00000528850ENST00000446922NARS2chr11

78147707

-HMGB2chr4

174254340

-

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FusionProtFeatures for NARS2_HMGB2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NARS2

Q96I59

HMGB2

P26583

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}.

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 NARS2_HMGB2


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 NARS2_HMGB2


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 NARS2_HMGB2


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 NARS2_HMGB2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNARS2C0023264Leigh Disease1UNIPROT
HgeneNARS2C4015643COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 241ORPHANET;UNIPROT
TgeneHMGB2C0028754Obesity1CTD_human
TgeneHMGB2C0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneHMGB2C2239176Liver carcinoma1CTD_human