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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:G6PD-STAT6 (FusionGDB2 ID:HG2539TG6778)

Fusion Gene Summary for G6PD-STAT6

check button Fusion gene summary
Fusion gene informationFusion gene name: G6PD-STAT6
Fusion gene ID: hg2539tg6778
HgeneTgene
Gene symbol

G6PD

STAT6

Gene ID

2539

6778

Gene nameglucose-6-phosphate dehydrogenasesignal transducer and activator of transcription 6
SynonymsG6PD1D12S1644|IL-4-STAT|STAT6B|STAT6C
Cytomap('G6PD')('STAT6')

Xq28

12q13.3

Type of geneprotein-codingprotein-coding
Descriptionglucose-6-phosphate 1-dehydrogenaseepididymis secretory sperm binding proteinsignal transducer and activator of transcription 6STAT, interleukin4-inducedsignal transducer and activator of transcription 6, interleukin-4 inducedtranscription factor IL-4 STAT
Modification date2020031320200329
UniProtAcc

P11413

P42226

Ensembl transtripts involved in fusion geneENST00000393562, ENST00000369620, 
ENST00000393564, ENST00000497281, 
Fusion gene scores* DoF score8 X 11 X 4=35242 X 21 X 17=14994
# samples 1246
** MAII scorelog2(12/352*10)=-1.55254102302878
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(46/14994*10)=-5.02660763586348
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: G6PD [Title/Abstract] AND STAT6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointG6PD(153759606)-STAT6(57496773), # 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
HgeneG6PD

GO:0006098

pentose-phosphate shunt

2297768

HgeneG6PD

GO:0006739

NADP metabolic process

15858258

HgeneG6PD

GO:0019322

pentose biosynthetic process

5643703

HgeneG6PD

GO:0051156

glucose 6-phosphate metabolic process

15858258

TgeneSTAT6

GO:0045944

positive regulation of transcription by RNA polymerase II

8810328



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
ChimerDB4UCECTCGA-D1-A3JP-01AG6PDchrX

153759606

-STAT6chr12

57496773

-


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Fusion Gene ORF analysis for G6PD-STAT6

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-intronENST00000393562ENST00000300134G6PDchrX

153759606

-STAT6chr12

57496773

-
5CDS-intronENST00000393562ENST00000454075G6PDchrX

153759606

-STAT6chr12

57496773

-
5CDS-intronENST00000393562ENST00000537215G6PDchrX

153759606

-STAT6chr12

57496773

-
5CDS-intronENST00000393562ENST00000538913G6PDchrX

153759606

-STAT6chr12

57496773

-
5CDS-intronENST00000393562ENST00000543873G6PDchrX

153759606

-STAT6chr12

57496773

-
5CDS-intronENST00000393562ENST00000556155G6PDchrX

153759606

-STAT6chr12

57496773

-
intron-intronENST00000369620ENST00000300134G6PDchrX

153759606

-STAT6chr12

57496773

-
intron-intronENST00000369620ENST00000454075G6PDchrX

153759606

-STAT6chr12

57496773

-
intron-intronENST00000369620ENST00000537215G6PDchrX

153759606

-STAT6chr12

57496773

-
intron-intronENST00000369620ENST00000538913G6PDchrX

153759606

-STAT6chr12

57496773

-
intron-intronENST00000369620ENST00000543873G6PDchrX

153759606

-STAT6chr12

57496773

-
intron-intronENST00000369620ENST00000556155G6PDchrX

153759606

-STAT6chr12

57496773

-
intron-intronENST00000393564ENST00000300134G6PDchrX

153759606

-STAT6chr12

57496773

-
intron-intronENST00000393564ENST00000454075G6PDchrX

153759606

-STAT6chr12

57496773

-
intron-intronENST00000393564ENST00000537215G6PDchrX

153759606

-STAT6chr12

57496773

-
intron-intronENST00000393564ENST00000538913G6PDchrX

153759606

-STAT6chr12

57496773

-
intron-intronENST00000393564ENST00000543873G6PDchrX

153759606

-STAT6chr12

57496773

-
intron-intronENST00000393564ENST00000556155G6PDchrX

153759606

-STAT6chr12

57496773

-
intron-intronENST00000497281ENST00000300134G6PDchrX

153759606

-STAT6chr12

57496773

-
intron-intronENST00000497281ENST00000454075G6PDchrX

153759606

-STAT6chr12

57496773

-
intron-intronENST00000497281ENST00000537215G6PDchrX

153759606

-STAT6chr12

57496773

-
intron-intronENST00000497281ENST00000538913G6PDchrX

153759606

-STAT6chr12

57496773

-
intron-intronENST00000497281ENST00000543873G6PDchrX

153759606

-STAT6chr12

57496773

-
intron-intronENST00000497281ENST00000556155G6PDchrX

153759606

-STAT6chr12

57496773

-

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 G6PD-STAT6


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 G6PD-STAT6


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/:153759606/:57496773)
- 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
G6PD

P11413

STAT6

P42226

FUNCTION: Catalyzes the rate-limiting step of the oxidative pentose-phosphate pathway, which represents a route for the dissimilation of carbohydrates besides glycolysis. The main function of this enzyme is to provide reducing power (NADPH) and pentose phosphates for fatty acid and nucleic acid synthesis. {ECO:0000269|PubMed:15858258, ECO:0000269|PubMed:24769394, ECO:0000269|PubMed:26479991, ECO:0000269|PubMed:743300}.FUNCTION: Carries out a dual function: signal transduction and activation of transcription. Involved in IL4/interleukin-4- and IL3/interleukin-3-mediated signaling. {ECO:0000269|PubMed:17210636}.

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 G6PD-STAT6


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 G6PD-STAT6


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 G6PD-STAT6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneG6PDP11413DB03085Glycolic acidInhibitorSmall moleculeApproved|Investigational

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Related Diseases for G6PD-STAT6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneG6PDC2720289ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY21CTD_human;GENOMICS_ENGLAND;UNIPROT
HgeneG6PDC0005586Bipolar Disorder5PSYGENET
HgeneG6PDC0002878Anemia, Hemolytic4CTD_human;GENOMICS_ENGLAND
HgeneG6PDC0002879Anemia, Hemolytic, Acquired3CTD_human
HgeneG6PDC0002889Anemia, Microangiopathic3CTD_human
HgeneG6PDC0022660Kidney Failure, Acute3CTD_human
HgeneG6PDC0221021Microangiopathic hemolytic anemia3CTD_human
HgeneG6PDC1565662Acute Kidney Insufficiency3CTD_human
HgeneG6PDC2609414Acute kidney injury3CTD_human
HgeneG6PDC2939465Deficiency of glucose-6-phosphate dehydrogenase3CTD_human
HgeneG6PDC0002882Anemia, Hemolytic, Congenital Nonspherocytic2CTD_human
HgeneG6PDC0015702Favism2CTD_human
HgeneG6PDC0019054Hemolysis (disorder)2CTD_human
HgeneG6PDC0235574Intravascular hemolysis2CTD_human
HgeneG6PDC0312854Extravascular Hemolysis2CTD_human
HgeneG6PDC0520572Enzymopathy2GENOMICS_ENGLAND
HgeneG6PDC0011616Contact Dermatitis1CTD_human
HgeneG6PDC0018203Chronic granulomatous disease1CTD_human
HgeneG6PDC0031306Phagocyte Bactericidal Dysfunction1CTD_human
HgeneG6PDC0162351Contact hypersensitivity1CTD_human
HgeneG6PDC1844376Granulomatous Disease, Chronic, X-Linked1CTD_human
HgeneG6PDC3661525Autosomal Recessive Chronic Granulomatous Disease1CTD_human
HgeneG6PDC3714514Infection1GENOMICS_ENGLAND
TgeneC0018922hemangiopericytoma2ORPHANET
TgeneC1266119Solitary fibrous tumor2CTD_human;ORPHANET
TgeneC0011615Dermatitis, Atopic1CTD_human
TgeneC0013604Edema1CTD_human
TgeneC0018671Head and Neck Neoplasms1CTD_human
TgeneC0018675Head Neoplasms1CTD_human
TgeneC0027533Neck Neoplasms1CTD_human
TgeneC0034069Pulmonary Fibrosis1CTD_human
TgeneC0086196Eczema, Infantile1CTD_human
TgeneC0151603Anasarca1CTD_human
TgeneC0278996Malignant Head and Neck Neoplasm1CTD_human
TgeneC0746787Cancer of Neck1CTD_human
TgeneC0751177Cancer of Head1CTD_human
TgeneC0887900Upper Aerodigestive Tract Neoplasms1CTD_human
TgeneC4721507Alveolitis, Fibrosing1CTD_human