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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:GCH1-SLC7A11-AS1 (FusionGDB2 ID:HG2643TG641364)

Fusion Gene Summary for GCH1-SLC7A11-AS1

check button Fusion gene summary
Fusion gene informationFusion gene name: GCH1-SLC7A11-AS1
Fusion gene ID: hg2643tg641364
HgeneTgene
Gene symbol

GCH1

SLC7A11-AS1

Gene ID

2643

641364

Gene nameGTP cyclohydrolase 1SLC7A11 antisense RNA 1
SynonymsDYT14|DYT5|DYT5a|GCH|GTP-CH-1|GTPCH1|HPABH4B-
Cytomap('GCH1')('SLC7A11-AS1')

14q22.2

4q28.3

Type of geneprotein-codingncRNA
DescriptionGTP cyclohydrolase 1GTP cyclohydrolase IGTP-CH-Idystonia 14guanosine 5'-triphosphate cyclohydrolase ISLC7A11 antisense RNA 1 (non-protein coding)
Modification date2020032020200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000254299, ENST00000491895, 
ENST00000543643, ENST00000395514, 
ENST00000536224, 
Fusion gene scores* DoF score4 X 4 X 1=163 X 3 X 1=9
# samples 43
** MAII scorelog2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
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: GCH1 [Title/Abstract] AND SLC7A11-AS1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGCH1(55308734)-SLC7A11-AS1(139060937), # 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
HgeneGCH1

GO:0006729

tetrahydrobiopterin biosynthetic process

7678411|9445252

HgeneGCH1

GO:0032496

response to lipopolysaccharide

7678411|9445252

HgeneGCH1

GO:0034341

response to interferon-gamma

7678411|9445252|12607127

HgeneGCH1

GO:0034612

response to tumor necrosis factor

9445252

HgeneGCH1

GO:0042416

dopamine biosynthetic process

16338639

HgeneGCH1

GO:0042559

pteridine-containing compound biosynthetic process

2463916|3753653|15721862

HgeneGCH1

GO:0051000

positive regulation of nitric-oxide synthase activity

12176133|15721862



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


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Fusion Gene ORF analysis for GCH1-SLC7A11-AS1

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

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 GCH1-SLC7A11-AS1


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 GCH1-SLC7A11-AS1


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/:55308734/:139060937)
- 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 GCH1-SLC7A11-AS1


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 GCH1-SLC7A11-AS1


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 GCH1-SLC7A11-AS1


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 GCH1-SLC7A11-AS1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGCH1C1851920Dopa-Responsive Dystonia19CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneGCH1C0268467Hyperphenylalaninemia, BH4-Deficient, B8CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneGCH1C0013421Dystonia2CTD_human;GENOMICS_ENGLAND
HgeneGCH1C0013386Dyskinesia, Drug-Induced1CTD_human
HgeneGCH1C0020538Hypertensive disease1CTD_human
HgeneGCH1C0026837Muscle Rigidity1CTD_human
HgeneGCH1C0026858Musculoskeletal Pain1CTD_human
HgeneGCH1C0030193Pain1CTD_human
HgeneGCH1C0033975Psychotic Disorders1PSYGENET
HgeneGCH1C0036341Schizophrenia1PSYGENET
HgeneGCH1C0036572Seizures1GENOMICS_ENGLAND
HgeneGCH1C0037772Spastic Paraplegia1GENOMICS_ENGLAND
HgeneGCH1C0086439Hypokinesia1CTD_human
HgeneGCH1C0151564Cogwheel Rigidity1CTD_human
HgeneGCH1C0151744Myocardial Ischemia1CTD_human
HgeneGCH1C0231519Gegenhalten1CTD_human
HgeneGCH1C0233565Bradykinesia1CTD_human
HgeneGCH1C0233608Catatonic Rigidity1CTD_human
HgeneGCH1C0234230Pain, Burning1CTD_human
HgeneGCH1C0234238Ache1CTD_human
HgeneGCH1C0234254Radiating pain1CTD_human
HgeneGCH1C0239325Extensor Rigidity1CTD_human
HgeneGCH1C0242684Hypodynamia1CTD_human
HgeneGCH1C0277821Extrapyramidal Rigidity1CTD_human
HgeneGCH1C0349204Nonorganic psychosis1PSYGENET
HgeneGCH1C0393588Dystonia, Paroxysmal1CTD_human
HgeneGCH1C0393610Dystonia, Diurnal1CTD_human
HgeneGCH1C0458257Pain, Splitting1CTD_human
HgeneGCH1C0458259Pain, Crushing1CTD_human
HgeneGCH1C0751088Dyskinesia, Medication-Induced1CTD_human
HgeneGCH1C0751093Dystonia, Limb1CTD_human
HgeneGCH1C0751407Pain, Migratory1CTD_human
HgeneGCH1C0751408Suffering, Physical1CTD_human
HgeneGCH1C0751701Hypokinesia, Antiorthostatic1CTD_human
HgeneGCH1C1320474Nuchal Rigidity1CTD_human
HgeneGCH1C1855483Progressive spastic paraplegia1GENOMICS_ENGLAND