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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:AHSG-KNG1 (FusionGDB2 ID:HG197TG3827)

Fusion Gene Summary for AHSG-KNG1

check button Fusion gene summary
Fusion gene informationFusion gene name: AHSG-KNG1
Fusion gene ID: hg197tg3827
HgeneTgene
Gene symbol

AHSG

KNG1

Gene ID

197

3827

Gene namealpha 2-HS glycoproteinkininogen 1
SynonymsA2HS|AHS|APMR1|FETUA|HSGABDK|BK|HMWK|KNG
Cytomap('AHSG')('KNG1')

3q27.3

3q27.3

Type of geneprotein-codingprotein-coding
Descriptionalpha-2-HS-glycoproteinalpha-2-Z-globulinba-alpha-2-glycoproteinfetuin-Akininogen-1alpha-2-thiol proteinase inhibitorbradykininfitzgerald factorhigh molecular weight kininogenwilliams-Fitzgerald-Flaujeac factor
Modification date2020032920200315
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000273784, ENST00000411641, 
Fusion gene scores* DoF score13 X 6 X 4=3127 X 7 X 4=196
# samples 149
** MAII scorelog2(14/312*10)=-1.15611920191728
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(9/196*10)=-1.12285674778553
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AHSG [Title/Abstract] AND KNG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointAHSG(186335139)-KNG1(186461493), # 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
HgeneAHSG

GO:0006953

acute-phase response

12153747

HgeneAHSG

GO:0050766

positive regulation of phagocytosis

12725640

TgeneKNG1

GO:0007162

negative regulation of cell adhesion

11970955

TgeneKNG1

GO:0007204

positive regulation of cytosolic calcium ion concentration

16014619

TgeneKNG1

GO:0030195

negative regulation of blood coagulation

11970955

TgeneKNG1

GO:0045861

negative regulation of proteolysis

3488317



check button Fusion gene information
* 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
ChimerDB4LIHCTCGA-DD-AACGAHSGchr3

186335139

+KNG1chr3

186461493

+


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Fusion Gene ORF analysis for AHSG-KNG1

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-intronENST00000273784ENST00000265023AHSGchr3

186335139

+KNG1chr3

186461493

+
5CDS-intronENST00000273784ENST00000447445AHSGchr3

186335139

+KNG1chr3

186461493

+
5CDS-intronENST00000411641ENST00000265023AHSGchr3

186335139

+KNG1chr3

186461493

+
5CDS-intronENST00000411641ENST00000447445AHSGchr3

186335139

+KNG1chr3

186461493

+
Frame-shiftENST00000273784ENST00000287611AHSGchr3

186335139

+KNG1chr3

186461493

+
Frame-shiftENST00000411641ENST00000287611AHSGchr3

186335139

+KNG1chr3

186461493

+

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 AHSG-KNG1


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)
AHSGchr3186335139+KNG1chr3186461493+0.0008243050.9991757
AHSGchr3186335139+KNG1chr3186461493+0.0008243050.9991757


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for AHSG-KNG1


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/:186335139/:186461493)
- 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
..
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}.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 AHSG-KNG1


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 AHSG-KNG1


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 AHSG-KNG1


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 AHSG-KNG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAHSGC0006663Calcinosis1CTD_human
HgeneAHSGC0013221Drug toxicity1CTD_human
HgeneAHSGC0022660Kidney Failure, Acute1CTD_human
HgeneAHSGC0041755Adverse reaction to drug1CTD_human
HgeneAHSGC0263628Tumoral calcinosis1CTD_human
HgeneAHSGC0521174Microcalcification1CTD_human
HgeneAHSGC1565662Acute Kidney Insufficiency1CTD_human
HgeneAHSGC1859878Alopecia-Mental Retardation Syndrome 11CTD_human;UNIPROT
HgeneAHSGC2609414Acute kidney injury1CTD_human
HgeneAHSGC2931280Perniola Krajewska Carnevale syndrome1ORPHANET
TgeneC0020429Hyperalgesia17CTD_human
TgeneC0458247Allodynia17CTD_human
TgeneC0751211Hyperalgesia, Primary17CTD_human
TgeneC0751212Hyperalgesia, Secondary17CTD_human
TgeneC0751213Tactile Allodynia17CTD_human
TgeneC0751214Hyperalgesia, Thermal17CTD_human
TgeneC2936719Mechanical Allodynia17CTD_human
TgeneC0020649Hypotension9CTD_human
TgeneC0030193Pain7CTD_human
TgeneC0234230Pain, Burning7CTD_human
TgeneC0234238Ache7CTD_human
TgeneC0234254Radiating pain7CTD_human
TgeneC0458257Pain, Splitting7CTD_human
TgeneC0458259Pain, Crushing7CTD_human
TgeneC0751407Pain, Migratory7CTD_human
TgeneC0751408Suffering, Physical7CTD_human
TgeneC0272340High molecular weight kininogen deficiency3CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0011609Drug Eruptions2CTD_human
TgeneC0019193Hepatitis, Toxic2CTD_human
TgeneC0022660Kidney Failure, Acute2CTD_human
TgeneC0027055Myocardial Reperfusion Injury2CTD_human
TgeneC0406537Morbilliform Drug Reaction2CTD_human
TgeneC0860207Drug-Induced Liver Disease2CTD_human
TgeneC1262760Hepatitis, Drug-Induced2CTD_human
TgeneC1565662Acute Kidney Insufficiency2CTD_human
TgeneC2609414Acute kidney injury2CTD_human
TgeneC3658290Drug-Induced Acute Liver Injury2CTD_human
TgeneC4277682Chemical and Drug Induced Liver Injury2CTD_human
TgeneC4279912Chemically-Induced Liver Toxicity2CTD_human
TgeneC0002792anaphylaxis1CTD_human
TgeneC0003811Cardiac Arrhythmia1CTD_human
TgeneC0010200Coughing1CTD_human
TgeneC0013604Edema1CTD_human
TgeneC0015378Extravasation of Contrast Media1CTD_human
TgeneC0019243Angioedemas, Hereditary1CTD_human
TgeneC0020452Hyperemia1CTD_human
TgeneC0020453Hyperesthesia1CTD_human
TgeneC0020517Hypersensitivity1CTD_human
TgeneC0020538Hypertensive disease1CTD_human
TgeneC0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC0024667Animal Mammary Neoplasms1CTD_human
TgeneC0028796Dermatitis, Occupational1CTD_human
TgeneC0039231Tachycardia1CTD_human
TgeneC0042484Venous Engorgement1CTD_human
TgeneC0080203Tachyarrhythmia1CTD_human
TgeneC0086457Industrial Dermatosis1CTD_human
TgeneC0151603Anasarca1CTD_human
TgeneC0178824Reactive Hyperemia1CTD_human
TgeneC0333233Active Hyperemia1CTD_human
TgeneC0428977Bradycardia1CTD_human
TgeneC0751215Hyperesthesia, Tactile1CTD_human
TgeneC0751216Hyperesthesia, Thermal1CTD_human
TgeneC1257925Mammary Carcinoma, Animal1CTD_human
TgeneC1527304Allergic Reaction1CTD_human
TgeneC2931758Acquired angioedema1CTD_human