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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:KIAA1841-HMGB1 (FusionGDB2 ID:HG84542TG3146)

Fusion Gene Summary for KIAA1841-HMGB1

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA1841-HMGB1
Fusion gene ID: hg84542tg3146
HgeneTgene
Gene symbol

KIAA1841

HMGB1

Gene ID

84542

3146

Gene nameKIAA1841high mobility group box 1
Synonyms-HMG-1|HMG1|HMG3|SBP-1
Cytomap('KIAA1841')('HMGB1')

2p15

13q12.3

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein KIAA1841high mobility group protein B1AmphoterinSulfoglucuronyl carbohydrate binding proteinhigh-mobility group (nonhistone chromosomal) protein 1
Modification date2020031320200329
UniProtAcc

Q6NSI8

.
Ensembl transtripts involved in fusion geneENST00000295031, ENST00000356719, 
ENST00000402291, ENST00000453873, 
ENST00000482513, 
Fusion gene scores* DoF score5 X 5 X 3=7528 X 10 X 6=1680
# samples 521
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(21/1680*10)=-3
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KIAA1841 [Title/Abstract] AND HMGB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKIAA1841(61345251)-HMGB1(31037831), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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:0032755

positive regulation of interleukin-6 production

26961863

TgeneHMGB1

GO:0032757

positive regulation of interleukin-8 production

26961863

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:2000343

positive regulation of chemokine (C-X-C motif) ligand 2 production

26961863

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 two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4Non-CancerERR315360KIAA1841chr2

61345251

+HMGB1chr13

31037831

-


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Fusion Gene ORF analysis for KIAA1841-HMGB1

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
5CDS-5UTRENST00000295031ENST00000326004KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000295031ENST00000339872KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000295031ENST00000341423KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000295031ENST00000399489KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000295031ENST00000399494KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000295031ENST00000405805KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000295031ENST00000468384KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000356719ENST00000326004KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000356719ENST00000339872KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000356719ENST00000341423KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000356719ENST00000399489KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000356719ENST00000399494KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000356719ENST00000405805KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000356719ENST00000468384KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000402291ENST00000326004KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000402291ENST00000339872KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000402291ENST00000341423KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000402291ENST00000399489KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000402291ENST00000399494KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000402291ENST00000405805KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000402291ENST00000468384KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000453873ENST00000326004KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000453873ENST00000339872KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000453873ENST00000341423KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000453873ENST00000399489KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000453873ENST00000399494KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000453873ENST00000405805KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
5CDS-5UTRENST00000453873ENST00000468384KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
intron-5UTRENST00000482513ENST00000326004KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
intron-5UTRENST00000482513ENST00000339872KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
intron-5UTRENST00000482513ENST00000341423KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
intron-5UTRENST00000482513ENST00000399489KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
intron-5UTRENST00000482513ENST00000399494KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
intron-5UTRENST00000482513ENST00000405805KIAA1841chr2

61345251

+HMGB1chr13

31037831

-
intron-5UTRENST00000482513ENST00000468384KIAA1841chr2

61345251

+HMGB1chr13

31037831

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for KIAA1841-HMGB1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for KIAA1841-HMGB1


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:61345251/:31037831)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KIAA1841

Q6NSI8

.
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {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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Fusion Gene Sequence for KIAA1841-HMGB1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for KIAA1841-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


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Related Drugs for KIAA1841-HMGB1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for KIAA1841-HMGB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0021368Inflammation5CTD_human
TgeneC0027540Necrosis2CTD_human
TgeneC0034189Pyemia2CTD_human
TgeneC0036690Septicemia2CTD_human
TgeneC0243026Sepsis2CTD_human
TgeneC1719672Severe Sepsis2CTD_human
TgeneC0001973Alcoholic Intoxication, Chronic1PSYGENET
TgeneC0005398Cholestasis, Extrahepatic1CTD_human
TgeneC0013221Drug toxicity1CTD_human
TgeneC0015967Fever1CTD_human
TgeneC0019193Hepatitis, Toxic1CTD_human
TgeneC0020429Hyperalgesia1CTD_human
TgeneC0026766Multiple Organ Failure1CTD_human
TgeneC0027051Myocardial Infarction1CTD_human
TgeneC0027055Myocardial Reperfusion Injury1CTD_human
TgeneC0027796Neuralgia1CTD_human
TgeneC0034069Pulmonary Fibrosis1CTD_human
TgeneC0038870Neuralgia, Supraorbital1CTD_human
TgeneC0041755Adverse reaction to drug1CTD_human
TgeneC0042656Neuralgia, Vidian1CTD_human
TgeneC0151744Myocardial Ischemia1CTD_human
TgeneC0234247Neuralgia, Atypical1CTD_human
TgeneC0234249Neuralgia, Stump1CTD_human
TgeneC0264939Systemic Vasculitis1CTD_human
TgeneC0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneC0282548Leukostasis1CTD_human
TgeneC0423711Neuralgia, Perineal1CTD_human
TgeneC0423712Neuralgia, Iliohypogastric Nerve1CTD_human
TgeneC0458247Allodynia1CTD_human
TgeneC0751211Hyperalgesia, Primary1CTD_human
TgeneC0751212Hyperalgesia, Secondary1CTD_human
TgeneC0751213Tactile Allodynia1CTD_human
TgeneC0751214Hyperalgesia, Thermal1CTD_human
TgeneC0751371Neuralgia, Ilioinguinal1CTD_human
TgeneC0751372Nerve Pain1CTD_human
TgeneC0751373Paroxysmal Nerve Pain1CTD_human
TgeneC0860207Drug-Induced Liver Disease1CTD_human
TgeneC1262760Hepatitis, Drug-Induced1CTD_human
TgeneC1850383Neuropathy, Painful1CTD_human
TgeneC2936719Mechanical Allodynia1CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury1CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury1CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity1CTD_human
TgeneC4721507Alveolitis, Fibrosing1CTD_human