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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:SHH-KNG1 (FusionGDB2 ID:81114)

Fusion Gene Summary for SHH-KNG1

check button Fusion gene summary
Fusion gene informationFusion gene name: SHH-KNG1
Fusion gene ID: 81114
HgeneTgene
Gene symbol

SHH

KNG1

Gene ID

6469

3827

Gene namesonic hedgehog signaling moleculekininogen 1
SynonymsHHG1|HLP3|HPE3|MCOPCB5|SMMCI|ShhNC|TPT|TPTPSBDK|BK|HMWK|KNG
Cytomap

7q36.3

3q27.3

Type of geneprotein-codingprotein-coding
Descriptionsonic hedgehog proteinshh unprocessed N-terminal signaling and C-terminal autoprocessing domainssonic hedgehog homologkininogen-1alpha-2-thiol proteinase inhibitorbradykininfitzgerald factorhigh molecular weight kininogenwilliams-Fitzgerald-Flaujeac factor
Modification date2020032820200315
UniProtAcc.

P01042

Ensembl transtripts involved in fusion geneENST00000297261, ENST00000472308, 
ENST00000287611, ENST00000265023, 
ENST00000447445, 
Fusion gene scores* DoF score2 X 2 X 2=87 X 7 X 4=196
# samples 29
** MAII scorelog2(2/8*10)=1.32192809488736log2(9/196*10)=-1.12285674778553
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointSHH(155595728)-KNG1(186459311), # samples:2
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
HgeneSHH

GO:0008284

positive regulation of cell proliferation

11331587

HgeneSHH

GO:0043369

CD4-positive or CD8-positive, alpha-beta T cell lineage commitment

17227833

HgeneSHH

GO:0045880

positive regulation of smoothened signaling pathway

19561609

HgeneSHH

GO:0045893

positive regulation of transcription, DNA-templated

10654605

HgeneSHH

GO:0051781

positive regulation of cell division

11331587

HgeneSHH

GO:0060738

epithelial-mesenchymal signaling involved in prostate gland development

12221011

HgeneSHH

GO:0061189

positive regulation of sclerotome development

10654605

HgeneSHH

GO:1900180

regulation of protein localization to nucleus

11331587

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 buttonFusion gene breakpoints across SHH (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across KNG1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4LIHCTCGA-FV-A495-01ASHHchr7

155595728

-KNG1chr3

186459311

+
ChimerDB4LIHCTCGA-FV-A495-01ASHHchr7

155595728

-KNG1chr3

186459311

+


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Fusion Gene ORF analysis for SHH-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
intron-3CDSENST00000297261ENST00000287611SHHchr7

155595728

-KNG1chr3

186459311

+
intron-3CDSENST00000297261ENST00000265023SHHchr7

155595728

-KNG1chr3

186459311

+
intron-3CDSENST00000297261ENST00000447445SHHchr7

155595728

-KNG1chr3

186459311

+
intron-3CDSENST00000472308ENST00000287611SHHchr7

155595728

-KNG1chr3

186459311

+
intron-3CDSENST00000472308ENST00000265023SHHchr7

155595728

-KNG1chr3

186459311

+
intron-3CDSENST00000472308ENST00000447445SHHchr7

155595728

-KNG1chr3

186459311

+

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 SHH-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)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

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.

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Fusion Protein Features for SHH-KNG1


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.KNG1

P01042

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: (1) Kininogens are inhibitors of thiol proteases; (2) HMW-kininogen plays an important role in blood coagulation by helping to position optimally prekallikrein and factor XI next to factor XII; (3) HMW-kininogen inhibits the thrombin- and plasmin-induced aggregation of thrombocytes; (4) the active peptide bradykinin that is released from HMW-kininogen shows a variety of physiological effects: (4A) influence in smooth muscle contraction, (4B) induction of hypotension, (4C) natriuresis and diuresis, (4D) decrease in blood glucose level, (4E) it is a mediator of inflammation and causes (4E1) increase in vascular permeability, (4E2) stimulation of nociceptors (4E3) release of other mediators of inflammation (e.g. prostaglandins), (4F) it has a cardioprotective effect (directly via bradykinin action, indirectly via endothelium-derived relaxing factor action); (5) LMW-kininogen inhibits the aggregation of thrombocytes; (6) LMW-kininogen is in contrast to HMW-kininogen not involved in blood clotting.

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 SHH-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 SHH-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 SHH-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
TgeneKNG1P01042DB14548Zinc sulfate, unspecified formCofactorSmall moleculeApproved|Experimental
TgeneKNG1P01042DB14548Zinc sulfate, unspecified formCofactorSmall moleculeApproved|Experimental
TgeneKNG1P01042DB14548Zinc sulfate, unspecified formCofactorSmall moleculeApproved|Experimental
TgeneKNG1P01042DB01593ZincSmall moleculeApproved|Investigational
TgeneKNG1P01042DB01593ZincSmall moleculeApproved|Investigational
TgeneKNG1P01042DB01593ZincSmall moleculeApproved|Investigational
TgeneKNG1P01042DB09130CopperSmall moleculeApproved|Investigational
TgeneKNG1P01042DB09130CopperSmall moleculeApproved|Investigational
TgeneKNG1P01042DB09130CopperSmall moleculeApproved|Investigational
TgeneKNG1P01042DB14487Zinc acetateSmall moleculeApproved|Investigational
TgeneKNG1P01042DB14487Zinc acetateSmall moleculeApproved|Investigational
TgeneKNG1P01042DB14487Zinc acetateSmall moleculeApproved|Investigational
TgeneKNG1P01042DB14533Zinc chlorideCofactorSmall moleculeApproved|Investigational
TgeneKNG1P01042DB14533Zinc chlorideCofactorSmall moleculeApproved|Investigational
TgeneKNG1P01042DB14533Zinc chlorideCofactorSmall moleculeApproved|Investigational

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Related Diseases for SHH-KNG1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSHHC1840529HOLOPROSENCEPHALY 315CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneSHHC0079541Holoprosencephaly6CTD_human;GENOMICS_ENGLAND
HgeneSHHC0078982Arhinencephaly4CTD_human
HgeneSHHC0431362Lobar Holoprosencephaly4CTD_human;ORPHANET
HgeneSHHC0431363Alobar Holoprosencephaly4CTD_human;ORPHANET
HgeneSHHC0751617Semilobar Holoprosencephaly4CTD_human;ORPHANET
HgeneSHHC1840235SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR4CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneSHHC1868114POLYDACTYLY, PREAXIAL II (disorder)4GENOMICS_ENGLAND;ORPHANET
HgeneSHHC1968843MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5 (disorder)3CTD_human;GENOMICS_ENGLAND
HgeneSHHC0015393Eye Abnormalities1CTD_human
HgeneSHHC0030569Secondary Parkinson Disease1CTD_human
HgeneSHHC0152427Polydactyly1GENOMICS_ENGLAND
HgeneSHHC0265581Longitudinal deficiency of radius1ORPHANET
HgeneSHHC0266484Schizencephaly1GENOMICS_ENGLAND
HgeneSHHC0266667Cyclocephaly1GENOMICS_ENGLAND
HgeneSHHC0345354Radial polydactyly1GENOMICS_ENGLAND
HgeneSHHC0751414Parkinson Disease, Secondary Vascular1CTD_human
HgeneSHHC0751415Atherosclerotic Parkinsonism1CTD_human
HgeneSHHC1856892Facial Dysmorphism with Multiple Malformations1CTD_human
HgeneSHHC2239176Liver carcinoma1CTD_human
HgeneSHHC2931501Microphthalmia associated with colobomatous cyst1ORPHANET
TgeneKNG1C0020429Hyperalgesia17CTD_human
TgeneKNG1C0458247Allodynia17CTD_human
TgeneKNG1C0751211Hyperalgesia, Primary17CTD_human
TgeneKNG1C0751212Hyperalgesia, Secondary17CTD_human
TgeneKNG1C0751213Tactile Allodynia17CTD_human
TgeneKNG1C0751214Hyperalgesia, Thermal17CTD_human
TgeneKNG1C2936719Mechanical Allodynia17CTD_human
TgeneKNG1C0020649Hypotension9CTD_human
TgeneKNG1C0030193Pain7CTD_human
TgeneKNG1C0234230Pain, Burning7CTD_human
TgeneKNG1C0234238Ache7CTD_human
TgeneKNG1C0234254Radiating pain7CTD_human
TgeneKNG1C0458257Pain, Splitting7CTD_human
TgeneKNG1C0458259Pain, Crushing7CTD_human
TgeneKNG1C0751407Pain, Migratory7CTD_human
TgeneKNG1C0751408Suffering, Physical7CTD_human
TgeneKNG1C0272340High molecular weight kininogen deficiency3CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneKNG1C0011609Drug Eruptions2CTD_human
TgeneKNG1C0019193Hepatitis, Toxic2CTD_human
TgeneKNG1C0022660Kidney Failure, Acute2CTD_human
TgeneKNG1C0027055Myocardial Reperfusion Injury2CTD_human
TgeneKNG1C0406537Morbilliform Drug Reaction2CTD_human
TgeneKNG1C0860207Drug-Induced Liver Disease2CTD_human
TgeneKNG1C1262760Hepatitis, Drug-Induced2CTD_human
TgeneKNG1C1565662Acute Kidney Insufficiency2CTD_human
TgeneKNG1C2609414Acute kidney injury2CTD_human
TgeneKNG1C3658290Drug-Induced Acute Liver Injury2CTD_human
TgeneKNG1C4277682Chemical and Drug Induced Liver Injury2CTD_human
TgeneKNG1C4279912Chemically-Induced Liver Toxicity2CTD_human
TgeneKNG1C0002792anaphylaxis1CTD_human
TgeneKNG1C0003811Cardiac Arrhythmia1CTD_human
TgeneKNG1C0010200Coughing1CTD_human
TgeneKNG1C0013604Edema1CTD_human
TgeneKNG1C0015378Extravasation of Contrast Media1CTD_human
TgeneKNG1C0019243Angioedemas, Hereditary1CTD_human
TgeneKNG1C0020452Hyperemia1CTD_human
TgeneKNG1C0020453Hyperesthesia1CTD_human
TgeneKNG1C0020517Hypersensitivity1CTD_human
TgeneKNG1C0020538Hypertensive disease1CTD_human
TgeneKNG1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneKNG1C0024667Animal Mammary Neoplasms1CTD_human
TgeneKNG1C0028796Dermatitis, Occupational1CTD_human
TgeneKNG1C0039231Tachycardia1CTD_human
TgeneKNG1C0042484Venous Engorgement1CTD_human
TgeneKNG1C0080203Tachyarrhythmia1CTD_human
TgeneKNG1C0086457Industrial Dermatosis1CTD_human
TgeneKNG1C0151603Anasarca1CTD_human
TgeneKNG1C0178824Reactive Hyperemia1CTD_human
TgeneKNG1C0333233Active Hyperemia1CTD_human
TgeneKNG1C0428977Bradycardia1CTD_human
TgeneKNG1C0751215Hyperesthesia, Tactile1CTD_human
TgeneKNG1C0751216Hyperesthesia, Thermal1CTD_human
TgeneKNG1C1257925Mammary Carcinoma, Animal1CTD_human
TgeneKNG1C1527304Allergic Reaction1CTD_human
TgeneKNG1C2931758Acquired angioedema1CTD_human