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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:GSK3B-SGIP1 (FusionGDB2 ID:34927)

Fusion Gene Summary for GSK3B-SGIP1

check button Fusion gene summary
Fusion gene informationFusion gene name: GSK3B-SGIP1
Fusion gene ID: 34927
HgeneTgene
Gene symbol

GSK3B

SGIP1

Gene ID

2932

84251

Gene nameglycogen synthase kinase 3 betaSH3GL interacting endocytic adaptor 1
Synonyms--
Cytomap

3q13.33

1p31.3

Type of geneprotein-codingprotein-coding
Descriptionglycogen synthase kinase-3 betaGSK-3 betaGSK3beta isoformserine/threonine-protein kinase GSK3BSH3-containing GRB2-like protein 3-interacting protein 1SH3 domain GRB2 like endophilin interacting protein 1endophilin-3-interacting protein
Modification date2020031520200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000264235, ENST00000316626, 
ENST00000473886, 		ENST00000237247, 
ENST00000371039, ENST00000371035, 
ENST00000468286, ENST00000371036, 
ENST00000371037, ENST00000435165, 
Fusion gene scores* DoF score31 X 22 X 12=81847 X 7 X 3=147
# samples 368
** MAII scorelog2(36/8184*10)=-4.50673733341565
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/147*10)=-0.877744249949002
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GSK3B [Title/Abstract] AND SGIP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGSK3B(119696071)-SGIP1(67185044), # 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
HgeneGSK3B

GO:0005977

glycogen metabolic process

8638126

HgeneGSK3B

GO:0006468

protein phosphorylation

11035810|16315267|20937854

HgeneGSK3B

GO:0006983

ER overload response

14744935

HgeneGSK3B

GO:0018105

peptidyl-serine phosphorylation

8638126|11104755|11955436|14744935|17139249

HgeneGSK3B

GO:0018107

peptidyl-threonine phosphorylation

11955436|17139249|25897075

HgeneGSK3B

GO:0031175

neuron projection development

19830702

HgeneGSK3B

GO:0031334

positive regulation of protein complex assembly

8638126

HgeneGSK3B

GO:0032091

negative regulation of protein binding

16890161

HgeneGSK3B

GO:0032436

positive regulation of proteasomal ubiquitin-dependent protein catabolic process

19364825

HgeneGSK3B

GO:0035556

intracellular signal transduction

14749367

HgeneGSK3B

GO:0043066

negative regulation of apoptotic process

14744935

HgeneGSK3B

GO:0046777

protein autophosphorylation

23184662

HgeneGSK3B

GO:0046827

positive regulation of protein export from nucleus

14744935

HgeneGSK3B

GO:1901215

negative regulation of neuron death

19830702

HgeneGSK3B

GO:1901216

positive regulation of neuron death

18508033

HgeneGSK3B

GO:2000300

regulation of synaptic vesicle exocytosis

17989287


check buttonFusion gene breakpoints across GSK3B (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 SGIP1 (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
ChiTaRS5.0N/AR11870GSK3Bchr3

119696071

-SGIP1chr1

67185044

+


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Fusion Gene ORF analysis for GSK3B-SGIP1

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-3CDSENST00000264235ENST00000237247GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-3CDSENST00000264235ENST00000371039GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-3CDSENST00000264235ENST00000371035GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-intronENST00000264235ENST00000468286GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-intronENST00000264235ENST00000371036GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-intronENST00000264235ENST00000371037GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-intronENST00000264235ENST00000435165GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-3CDSENST00000316626ENST00000237247GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-3CDSENST00000316626ENST00000371039GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-3CDSENST00000316626ENST00000371035GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-intronENST00000316626ENST00000468286GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-intronENST00000316626ENST00000371036GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-intronENST00000316626ENST00000371037GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-intronENST00000316626ENST00000435165GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-3CDSENST00000473886ENST00000237247GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-3CDSENST00000473886ENST00000371039GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-3CDSENST00000473886ENST00000371035GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-intronENST00000473886ENST00000468286GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-intronENST00000473886ENST00000371036GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-intronENST00000473886ENST00000371037GSK3Bchr3

119696071

-SGIP1chr1

67185044

+
intron-intronENST00000473886ENST00000435165GSK3Bchr3

119696071

-SGIP1chr1

67185044

+

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 GSK3B-SGIP1


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 GSK3B-SGIP1


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
..
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: 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.

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 GSK3B-SGIP1


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 GSK3B-SGIP1


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 GSK3B-SGIP1


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 GSK3B-SGIP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGSK3BC0005586Bipolar Disorder6CTD_human;PSYGENET
HgeneGSK3BC0011581Depressive disorder5CTD_human;PSYGENET
HgeneGSK3BC1269683Major Depressive Disorder5PSYGENET
HgeneGSK3BC0011570Mental Depression3PSYGENET
HgeneGSK3BC0002395Alzheimer's Disease2CTD_human
HgeneGSK3BC0011265Presenile dementia2CTD_human
HgeneGSK3BC0011573Endogenous depression2CTD_human
HgeneGSK3BC0025193Melancholia2CTD_human
HgeneGSK3BC0033578Prostatic Neoplasms2CTD_human
HgeneGSK3BC0036341Schizophrenia2CTD_human
HgeneGSK3BC0041696Unipolar Depression2CTD_human
HgeneGSK3BC0086133Depressive Syndrome2CTD_human
HgeneGSK3BC0276496Familial Alzheimer Disease (FAD)2CTD_human
HgeneGSK3BC0282126Depression, Neurotic2CTD_human
HgeneGSK3BC0376358Malignant neoplasm of prostate2CTD_human
HgeneGSK3BC0494463Alzheimer Disease, Late Onset2CTD_human
HgeneGSK3BC0525045Mood Disorders2PSYGENET
HgeneGSK3BC0546126Acute Confusional Senile Dementia2CTD_human
HgeneGSK3BC0750900Alzheimer's Disease, Focal Onset2CTD_human
HgeneGSK3BC0750901Alzheimer Disease, Early Onset2CTD_human
HgeneGSK3BC0000772Multiple congenital anomalies1CTD_human
HgeneGSK3BC0003865Arthritis, Adjuvant-Induced1CTD_human
HgeneGSK3BC0005587Depression, Bipolar1CTD_human
HgeneGSK3BC0007621Neoplastic Cell Transformation1CTD_human
HgeneGSK3BC0009241Cognition Disorders1CTD_human
HgeneGSK3BC0018800Cardiomegaly1CTD_human
HgeneGSK3BC0018801Heart failure1CTD_human
HgeneGSK3BC0018802Congestive heart failure1CTD_human
HgeneGSK3BC0020538Hypertensive disease1CTD_human
HgeneGSK3BC0022660Kidney Failure, Acute1CTD_human
HgeneGSK3BC0023212Left-Sided Heart Failure1CTD_human
HgeneGSK3BC0024713Manic Disorder1CTD_human
HgeneGSK3BC0026846Muscular Atrophy1CTD_human
HgeneGSK3BC0027051Myocardial Infarction1CTD_human
HgeneGSK3BC0031154Peritonitis1CTD_human
HgeneGSK3BC0235527Heart Failure, Right-Sided1CTD_human
HgeneGSK3BC0270948Neurogenic Muscular Atrophy1CTD_human
HgeneGSK3BC0334634Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse1CTD_human
HgeneGSK3BC0338831Manic1CTD_human
HgeneGSK3BC0751958Lymphoma, Lymphocytic, Intermediate1CTD_human
HgeneGSK3BC0949664Tauopathies1CTD_human
HgeneGSK3BC0971858Arthritis, Collagen-Induced1CTD_human
HgeneGSK3BC0993582Arthritis, Experimental1CTD_human
HgeneGSK3BC1383860Cardiac Hypertrophy1CTD_human
HgeneGSK3BC1449646Primary Peritonitis1CTD_human
HgeneGSK3BC1449647Secondary Peritonitis1CTD_human
HgeneGSK3BC1565662Acute Kidney Insufficiency1CTD_human
HgeneGSK3BC1866282CEROID LIPOFUSCINOSIS, NEURONAL, 61CTD_human
HgeneGSK3BC1959583Myocardial Failure1CTD_human
HgeneGSK3BC1961112Heart Decompensation1CTD_human
HgeneGSK3BC2609414Acute kidney injury1CTD_human
TgeneSGIP1C0001973Alcoholic Intoxication, Chronic2PSYGENET