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: 25460

FusionGeneSummary for OR2A9P_HMGB1

check button Fusion gene summary
Fusion gene informationFusion gene name: OR2A9P_HMGB1
Fusion gene ID: 25460
HgeneTgene
Gene symbol

OR2A9P

HMGB1

Gene ID

441295

3146

Gene nameolfactory receptor family 2 subfamily A member 9 pseudogenehigh mobility group box 1
SynonymsFKSG35|HSDJ0798C17|OR2A19|OR2A22P|OR2A9HMG-1|HMG1|HMG3|SBP-1
Cytomap

7q35

13q12.3

Type of genepseudoprotein-coding
Descriptionolfactory receptor, family 2, subfamily A, member 19olfactory receptor, family 2, subfamily A, member 22 pseudogenehigh mobility group protein B1AmphoterinSulfoglucuronyl carbohydrate binding proteinhigh-mobility group (nonhistone chromosomal) protein 1
Modification date2018032920180529
UniProtAcc

P09429

Ensembl transtripts involved in fusion geneENST00000461471, ENST00000405805, 
ENST00000339872, ENST00000341423, 
ENST00000399489, ENST00000399494, 
ENST00000326004, ENST00000468384, 
Fusion gene scores* DoF score1 X 1 X 1=14 X 4 X 1=16
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: OR2A9P [Title/Abstract] AND HMGB1 [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
TgeneHMGB1

GO:0002218

activation of innate immune response

24971542

TgeneHMGB1

GO:0002643

regulation of tolerance induction

18631454

TgeneHMGB1

GO:0006357

regulation of transcription by RNA polymerase II

11748232

TgeneHMGB1

GO:0006954

inflammatory response

23146691

TgeneHMGB1

GO:0007204

positive regulation of cytosolic calcium ion concentration

22370717

TgeneHMGB1

GO:0017055

negative regulation of RNA polymerase II transcriptional preinitiation complex assembly

8006019

TgeneHMGB1

GO:0032072

regulation of restriction endodeoxyribonuclease activity

17803946

TgeneHMGB1

GO:0032425

positive regulation of mismatch repair

15014079

TgeneHMGB1

GO:0032689

negative regulation of interferon-gamma production

22473704

TgeneHMGB1

GO:0032733

positive regulation of interleukin-10 production

22473704

TgeneHMGB1

GO:0033151

V(D)J recombination

9166431

TgeneHMGB1

GO:0035711

T-helper 1 cell activation

22473704

TgeneHMGB1

GO:0043065

positive regulation of apoptotic process

19800306

TgeneHMGB1

GO:0043277

apoptotic cell clearance

18768881

TgeneHMGB1

GO:0043280

positive regulation of cysteine-type endopeptidase activity involved in apoptotic process

19800306

TgeneHMGB1

GO:0043371

negative regulation of CD4-positive, alpha-beta T cell differentiation

22473704

TgeneHMGB1

GO:0043388

positive regulation of DNA binding

11748232|19223331

TgeneHMGB1

GO:0043410

positive regulation of MAPK cascade

12765338

TgeneHMGB1

GO:0043537

negative regulation of blood vessel endothelial cell migration

23148224

TgeneHMGB1

GO:0045944

positive regulation of transcription by RNA polymerase II

19223331

TgeneHMGB1

GO:0046330

positive regulation of JNK cascade

12765338

TgeneHMGB1

GO:0050716

positive regulation of interleukin-1 secretion

12765338

TgeneHMGB1

GO:0070374

positive regulation of ERK1 and ERK2 cascade

22370717

TgeneHMGB1

GO:0090026

positive regulation of monocyte chemotaxis

22370717

TgeneHMGB1

GO:0097350

neutrophil clearance

18768881

TgeneHMGB1

GO:1990774

tumor necrosis factor secretion

12765338

TgeneHMGB1

GO:2000426

negative regulation of apoptotic cell clearance

20826760

TgeneHMGB1

GO:2000778

positive regulation of interleukin-6 secretion

12765338


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
ChiTaRS3.1AI125119OR2A9Pchr7

144051921

+HMGB1chr13

31063904

-
* 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-intronENST00000461471ENST00000405805OR2A9Pchr7

144051921

+HMGB1chr13

31063904

-
intron-intronENST00000461471ENST00000339872OR2A9Pchr7

144051921

+HMGB1chr13

31063904

-
intron-intronENST00000461471ENST00000341423OR2A9Pchr7

144051921

+HMGB1chr13

31063904

-
intron-intronENST00000461471ENST00000399489OR2A9Pchr7

144051921

+HMGB1chr13

31063904

-
intron-intronENST00000461471ENST00000399494OR2A9Pchr7

144051921

+HMGB1chr13

31063904

-
intron-intronENST00000461471ENST00000326004OR2A9Pchr7

144051921

+HMGB1chr13

31063904

-
intron-intronENST00000461471ENST00000468384OR2A9Pchr7

144051921

+HMGB1chr13

31063904

-

Top

FusionProtFeatures for OR2A9P_HMGB1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
OR2A9P

HMGB1

P09429

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Multifunctional redox sensitive protein with variousroles in different cellular compartments. In the nucleus is one ofthe major chromatin-associated non-histone proteins and acts as aDNA chaperone involved in replication, transcription, chromatinremodeling, V(D)J recombination, DNA repair and genome stability.Proposed to be an universal biosensor for nucleic acids. Promoteshost inflammatory response to sterile and infectious signals andis involved in the coordination and integration of innate andadaptive immune responses. In the cytoplasm functions as sensorand/or chaperone for immunogenic nucleic acids implicating theactivation of TLR9-mediated immune responses, and mediatesautophagy. Acts as danger associated molecular pattern (DAMP)molecule that amplifies immune responses during tissue injury(PubMed:27362237). Released to the extracellular environment canbind DNA, nucleosomes, IL-1 beta, CXCL12, AGER isoform 2/sRAGE,lipopolysaccharide (LPS) and lipoteichoic acid (LTA), andactivates cells through engagement of multiple surface receptors.In the extracellular compartment fully reduced HMGB1 (released bynecrosis) acts as a chemokine, disulfide HMGB1 (actively secreted)as a cytokine, and sulfonyl HMGB1 (released from apoptotic cells)promotes immunological tolerance (PubMed:23519706,PubMed:23446148, PubMed:23994764, PubMed:25048472). Hasproangiogdenic activity (By similarity). May be involved inplatelet activation (By similarity). Binds to phosphatidylserineand phosphatidylethanolamide (By similarity). Bound to RAGEmediates signaling for neuronal outgrowth (By similarity). Mayplay a role in accumulation of expanded polyglutamine (polyQ)proteins such as huntingtin (HTT) or TBP (PubMed:23303669,PubMed:25549101). {ECO:0000250|UniProtKB:P10103,ECO:0000250|UniProtKB:P12682, ECO:0000250|UniProtKB:P63158,ECO:0000250|UniProtKB:P63159, ECO:0000269|PubMed:23303669,ECO:0000269|PubMed:25549101, ECO:0000269|PubMed:27362237,ECO:0000305|PubMed:23446148, ECO:0000305|PubMed:23519706,ECO:0000305|PubMed:23994764, ECO:0000305|PubMed:25048472}. Nuclear functions are attributed to fully reduced HGMB1.Associates with chromatin and binds DNA with a preference to non-canonical DNA structures such as single-stranded DNA, DNA-containing cruciforms or bent structures, supercoiled DNA andZDNA. 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:20123072). May have an enhancing role in nucleotideexcision repair (NER) (By similarity). However, effects in NERusing in vitro systems have been reported conflictingly(PubMed:19446504, PubMed:19360789). May be involved in mismatchrepair (MMR) and base excision repair (BER) pathways(PubMed:15014079, PubMed:16143102, PubMed:17803946). May beinvolved in double strand break repair such as non-homologous endjoining (NHEJ) (By similarity). Involved in V(D)J recombination byacting as a cofactor of the RAG complex: acts by stimulatingcleavage and RAG protein binding at the 23 bp spacer of conservedrecombination signal sequences (RSS) (By similarity). In vitro candisplace histone H1 from highly bent DNA (By similarity). Canrestructure the canonical nucleosome leading to relaxation ofstructural constraints for transcription factor-binding (Bysimilarity). Enhances binding of sterol regulatory element-bindingproteins (SREBPs) such as SREBF1 to their cognate DNA sequencesand increases their transcriptional activities (By similarity).Facilitates binding of TP53 to DNA (PubMed:23063560). Proposed tobe involved in mitochondrial quality control and autophagy in atranscription-dependent fashion implicating HSPB1; however, thisfunction has been questioned (By similarity). Can modulate theactivity of the telomerase complex and may be involved in telomeremaintenance (By similarity). {ECO:0000250|UniProtKB:P10103,ECO:0000250|UniProtKB:P63158, ECO:0000250|UniProtKB:P63159,ECO:0000269|PubMed:15014079, ECO:0000269|PubMed:16143102,ECO:0000269|PubMed:17803946, ECO:0000269|PubMed:19446504,ECO:0000269|PubMed:23063560, ECO:0000305|PubMed:19360789,ECO:0000305|PubMed:20123072}. In the cytoplasm proposed to dissociate the BECN1:BCL2complex via competitive interaction with BECN1 leading toautophagy activation (PubMed:20819940). Involved in oxidativestress-mediated autophagy (PubMed:21395369). Can protect BECN1 andATG5 from calpain-mediated cleavage and thus proposed to controltheir proautophagic and proapoptotic functions and to regulate theextent and severity of inflammation-associated cellular injury (Bysimilarity). In myeloid cells has a protective role againstendotoxemia and bacterial infection by promoting autophagy (Bysimilarity). Involved in endosomal translocation and activation ofTLR9 in response to CpG-DNA in macrophages (By similarity).{ECO:0000250|UniProtKB:P63158, ECO:0000269|PubMed:20819940,ECO:0000269|PubMed:21395369}. In the extracellular compartment (following eitheractive secretion or passive release) involved in regulation of theinflammatory response. Fully reduced HGMB1 (which subsequentlygets oxidized after release) in association with CXCL12 mediatesthe recruitment of inflammatory cells during the initial phase oftissue injury; the CXCL12:HMGB1 complex triggers CXCR4homodimerization (PubMed:22370717). Induces the migration ofmonocyte-derived immature dendritic cells and seems to regulateadhesive and migratory functions of neutrophils implicatingAGER/RAGE and ITGAM (By similarity). Can bind to various types ofDNA and RNA including microbial unmethylated CpG-DNA to enhancethe innate immune response to nucleic acids. Proposed to act inpromiscuous DNA/RNA sensing which cooperates with subsequentdiscriminative sensing by specific pattern recognition receptors(By similarity). Promotes extracellular DNA-induced AIM2inflammasome activation implicating AGER/RAGE (PubMed:24971542).Disulfide HMGB1 binds to transmembrane receptors, such asAGER/RAGE, TLR2, TLR4 and probably TREM1, thus activating theirsignal transduction pathways. Mediates the release ofcytokines/chemokines such as TNF, IL-1, IL-6, IL-8, CCL2, CCL3,CCL4 and CXCL10 (PubMed:12765338, PubMed:18354232,PubMed:19264983, PubMed:20547845, PubMed:24474694). Promotessecretion of interferon-gamma by macrophage-stimulated naturalkiller (NK) cells in concert with other cytokines like IL-2 or IL-12 (PubMed:15607795). TLR4 is proposed to be the primary receptorpromoting macrophage activation and signaling through TLR4 seemsto implicate LY96/MD-2 (PubMed:20547845). In bacterial LPS- orLTA-mediated inflammatory responses binds to the endotoxins andtransfers them to CD14 for signaling to the respective TLR4:LY96and TLR2 complexes (PubMed:18354232, PubMed:21660935,PubMed:25660311). Contributes to tumor proliferation byassociation with ACER/RAGE (By similarity). Can bind to IL1-betaand signals through the IL1R1:IL1RAP receptor complex(PubMed:18250463). Binding to class A CpG activates cytokineproduction in plasmacytoid dendritic cells implicating TLR9, MYD88and AGER/RAGE and can activate autoreactive B cells. Via HMGB1-containing chromatin immune complexes may also promote B cellresponses to endogenous TLR9 ligands through a B-cell receptor(BCR)-dependent and ACER/RAGE-independent mechanism (Bysimilarity). Inhibits phagocytosis of apoptotic cells bymacrophages; the function is dependent on poly-ADP-ribosylationand involves binding to phosphatidylserine on the cell surface ofapoptotic cells (By similarity). In adaptive immunity may beinvolved in enhancing immunity through activation of effector Tcells and suppression of regulatory T (TReg) cells(PubMed:15944249, PubMed:22473704). In contrast, withoutimplicating effector or regulatory T-cells, required for tumorinfiltration and activation of T-cells expressing the lymphotoxinLTA:LTB heterotrimer thus promoting tumor malignant progression(By similarity). Also reported to limit proliferation of T-cells(By similarity). Released HMGB1:nucleosome complexes formed duringapoptosis can signal through TLR2 to induce cytokine production(PubMed:19064698). Involved in induction of immunologicaltolerance by apoptotic cells; its pro-inflammatory activities whenreleased by apoptotic cells are neutralized by reactive oxygenspecies (ROS)-dependent oxidation specifically on Cys-106(PubMed:18631454). During macrophage activation by activatedlymphocyte-derived self apoptotic DNA (ALD-DNA) promotesrecruitment of ALD-DNA to endosomes (By similarity).{ECO:0000250|UniProtKB:P10103, ECO:0000250|UniProtKB:P63158,ECO:0000250|UniProtKB:P63159, ECO:0000269|PubMed:12765338,ECO:0000269|PubMed:15607795, ECO:0000269|PubMed:15944249,ECO:0000269|PubMed:18250463, ECO:0000269|PubMed:18354232,ECO:0000269|PubMed:18631454, ECO:0000269|PubMed:19064698,ECO:0000269|PubMed:19264983, ECO:0000269|PubMed:20547845,ECO:0000269|PubMed:21660935, ECO:0000269|PubMed:22370717,ECO:0000269|PubMed:22473704, ECO:0000269|PubMed:24474694,ECO:0000269|PubMed:24971542, ECO:0000269|PubMed:25660311,ECO:0000269|Ref.8}.

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 OR2A9P_HMGB1


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 OR2A9P_HMGB1


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 OR2A9P_HMGB1


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 OR2A9P_HMGB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneHMGB1C0021368Inflammation5CTD_human
TgeneHMGB1C0027540Necrosis2CTD_human
TgeneHMGB1C0243026Sepsis2CTD_human
TgeneHMGB1C0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneHMGB1C0015967Fever1CTD_human
TgeneHMGB1C0020429Hyperalgesia1CTD_human
TgeneHMGB1C0026766Multiple Organ Failure1CTD_human
TgeneHMGB1C0027051Myocardial Infarction1CTD_human
TgeneHMGB1C0027055Myocardial Reperfusion Injury1CTD_human
TgeneHMGB1C0027796Neuralgia1CTD_human
TgeneHMGB1C0034069Pulmonary Fibrosis1CTD_human
TgeneHMGB1C0041755Adverse reaction to drug1CTD_human
TgeneHMGB1C0151744Myocardial Ischemia1CTD_human
TgeneHMGB1C0264939Systemic Vasculitis1CTD_human
TgeneHMGB1C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneHMGB1C1850383Neuropathy, Painful1CTD_human
TgeneHMGB1C4277682Chemical and Drug Induced Liver Injury1CTD_human