FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:PPARG-IQSEC1 (FusionGDB2 ID:66923)

Fusion Gene Summary for PPARG-IQSEC1

check button Fusion gene summary
Fusion gene informationFusion gene name: PPARG-IQSEC1
Fusion gene ID: 66923
HgeneTgene
Gene symbol

PPARG

IQSEC1

Gene ID

5468

9922

Gene nameperoxisome proliferator activated receptor gammaIQ motif and Sec7 domain ArfGEF 1
SynonymsCIMT1|GLM1|NR1C3|PPARG1|PPARG2|PPARgammaARF-GEP100|ARFGEP100|BRAG2|GEP100|IDDSSBA
Cytomap

3p25.2

3p25.2-p25.1

Type of geneprotein-codingprotein-coding
Descriptionperoxisome proliferator-activated receptor gammaPPAR-gammanuclear receptor subfamily 1 group C member 3peroxisome proliferator-activated nuclear receptor gamma variant 1IQ motif and SEC7 domain-containing protein 1ADP-ribosylation factors guanine nucleotide-exchange protein 100ADP-ribosylation factors guanine nucleotide-exchange protein 2IQ motif and Sec7 domain 1brefeldin A-resistant ARF-GEF2brefeldin-resistant Arf
Modification date2020032920200313
UniProtAcc.

Q6DN90

Ensembl transtripts involved in fusion geneENST00000397010, ENST00000309576, 
ENST00000397015, ENST00000397012, 
ENST00000397026, ENST00000397000, 
ENST00000539812, ENST00000287820, 
ENST00000273221, ENST00000473088, 
Fusion gene scores* DoF score7 X 9 X 5=3158 X 5 X 3=120
# samples 138
** MAII scorelog2(13/315*10)=-1.27684020535882
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/120*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PPARG [Title/Abstract] AND IQSEC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPPARG(12458653)-IQSEC1(12983365), # samples:2
Anticipated loss of major functional domain due to fusion event.PPARG-IQSEC1 seems lost the major protein functional domain in Hgene partner, which is a transcription factor due to the frame-shifted ORF.
PPARG-IQSEC1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
PPARG-IQSEC1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
PPARG-IQSEC1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
PPARG-IQSEC1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
PPARG-IQSEC1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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
HgenePPARG

GO:0000122

negative regulation of transcription by RNA polymerase II

12700342

HgenePPARG

GO:0006919

activation of cysteine-type endopeptidase activity involved in apoptotic process

18293083

HgenePPARG

GO:0007165

signal transduction

9568716

HgenePPARG

GO:0010742

macrophage derived foam cell differentiation

26504087

HgenePPARG

GO:0010745

negative regulation of macrophage derived foam cell differentiation

19114110

HgenePPARG

GO:0010871

negative regulation of receptor biosynthetic process

12700342

HgenePPARG

GO:0010887

negative regulation of cholesterol storage

19114110

HgenePPARG

GO:0010891

negative regulation of sequestering of triglyceride

12700342

HgenePPARG

GO:0016525

negative regulation of angiogenesis

28566713

HgenePPARG

GO:0030224

monocyte differentiation

9568716

HgenePPARG

GO:0032526

response to retinoic acid

16239304

HgenePPARG

GO:0042953

lipoprotein transport

9568716

HgenePPARG

GO:0043537

negative regulation of blood vessel endothelial cell migration

28566713

HgenePPARG

GO:0045713

low-density lipoprotein particle receptor biosynthetic process

9568716

HgenePPARG

GO:0045944

positive regulation of transcription by RNA polymerase II

9568715|12700342|16239304|17611579

HgenePPARG

GO:0048469

cell maturation

9568716

HgenePPARG

GO:0048662

negative regulation of smooth muscle cell proliferation

20622039

HgenePPARG

GO:0051091

positive regulation of DNA-binding transcription factor activity

18293083

HgenePPARG

GO:0061614

pri-miRNA transcription by RNA polymerase II

28566713

HgenePPARG

GO:0071404

cellular response to low-density lipoprotein particle stimulus

9568716

HgenePPARG

GO:1904706

negative regulation of vascular smooth muscle cell proliferation

28522568


check buttonFusion gene breakpoints across PPARG (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 IQSEC1 (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
ChimerDB4BLCATCGA-GV-A3JV-01APPARGchr3

12458653

+IQSEC1chr3

12983365

-
ChimerDB4BLCATCGA-GV-A3JV-01APPARGchr3

12458653

+IQSEC1chr3

12983365

-


Top

Fusion Gene ORF analysis for PPARG-IQSEC1

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
Frame-shiftENST00000397010ENST00000273221PPARGchr3

12458653

+IQSEC1chr3

12983365

-
5CDS-5UTRENST00000397010ENST00000473088PPARGchr3

12458653

+IQSEC1chr3

12983365

-
Frame-shiftENST00000309576ENST00000273221PPARGchr3

12458653

+IQSEC1chr3

12983365

-
5CDS-5UTRENST00000309576ENST00000473088PPARGchr3

12458653

+IQSEC1chr3

12983365

-
Frame-shiftENST00000397015ENST00000273221PPARGchr3

12458653

+IQSEC1chr3

12983365

-
5CDS-5UTRENST00000397015ENST00000473088PPARGchr3

12458653

+IQSEC1chr3

12983365

-
Frame-shiftENST00000397012ENST00000273221PPARGchr3

12458653

+IQSEC1chr3

12983365

-
5CDS-5UTRENST00000397012ENST00000473088PPARGchr3

12458653

+IQSEC1chr3

12983365

-
Frame-shiftENST00000397026ENST00000273221PPARGchr3

12458653

+IQSEC1chr3

12983365

-
5CDS-5UTRENST00000397026ENST00000473088PPARGchr3

12458653

+IQSEC1chr3

12983365

-
intron-3CDSENST00000397000ENST00000273221PPARGchr3

12458653

+IQSEC1chr3

12983365

-
intron-5UTRENST00000397000ENST00000473088PPARGchr3

12458653

+IQSEC1chr3

12983365

-
intron-3CDSENST00000539812ENST00000273221PPARGchr3

12458653

+IQSEC1chr3

12983365

-
intron-5UTRENST00000539812ENST00000473088PPARGchr3

12458653

+IQSEC1chr3

12983365

-
Frame-shiftENST00000287820ENST00000273221PPARGchr3

12458653

+IQSEC1chr3

12983365

-
5CDS-5UTRENST00000287820ENST00000473088PPARGchr3

12458653

+IQSEC1chr3

12983365

-

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

Top

Fusion Genomic Features for PPARG-IQSEC1


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.

Top

Fusion Protein Features for PPARG-IQSEC1


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
.IQSEC1

Q6DN90

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: Guanine nucleotide exchange factor for ARF1 and ARF6 (PubMed:24058294, PubMed:11226253). Guanine nucleotide exchange factor activity is enhanced by lipid binding (PubMed:24058294). Accelerates GTP binding by ARFs of all three classes. Guanine nucleotide exchange protein for ARF6, mediating internalisation of beta-1 integrin (PubMed:16461286). Involved in neuronal development (Probable). In neurons, plays a role in the control of vesicle formation by endocytoc cargo. Upon long term depression, interacts with GRIA2 and mediates the activation of ARF6 to internalize synaptic AMPAR receptors (By similarity). {ECO:0000250|UniProtKB:A0A0G2JUG7, ECO:0000269|PubMed:11226253, ECO:0000269|PubMed:16461286, ECO:0000269|PubMed:24058294, ECO:0000305|PubMed:31607425}.

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


Top

Fusion Gene Sequence for PPARG-IQSEC1


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.

Top

Fusion Gene PPI Analysis for PPARG-IQSEC1


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


Top

Related Drugs for PPARG-IQSEC1


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

Top

Related Diseases for PPARG-IQSEC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePPARGC0011860Diabetes Mellitus, Non-Insulin-Dependent6CTD_human;GENOMICS_ENGLAND
HgenePPARGC0238463Papillary thyroid carcinoma4ORPHANET
HgenePPARGC0002152Alloxan Diabetes3CTD_human
HgenePPARGC0002395Alzheimer's Disease3CTD_human
HgenePPARGC0011265Presenile dementia3CTD_human
HgenePPARGC0011853Diabetes Mellitus, Experimental3CTD_human
HgenePPARGC0020538Hypertensive disease3CTD_human
HgenePPARGC0021655Insulin Resistance3CTD_human
HgenePPARGC0022660Kidney Failure, Acute3CTD_human
HgenePPARGC0028754Obesity3CTD_human;GENOMICS_ENGLAND;UNIPROT
HgenePPARGC0035126Reperfusion Injury3CTD_human
HgenePPARGC0038433Streptozotocin Diabetes3CTD_human
HgenePPARGC0276496Familial Alzheimer Disease (FAD)3CTD_human
HgenePPARGC0494463Alzheimer Disease, Late Onset3CTD_human
HgenePPARGC0546126Acute Confusional Senile Dementia3CTD_human
HgenePPARGC0750900Alzheimer's Disease, Focal Onset3CTD_human
HgenePPARGC0750901Alzheimer Disease, Early Onset3CTD_human
HgenePPARGC0920563Insulin Sensitivity3CTD_human
HgenePPARGC1565662Acute Kidney Insufficiency3CTD_human
HgenePPARGC1720861Familial Partial Lipodystrophy, Type 33CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgenePPARGC2609414Acute kidney injury3CTD_human
HgenePPARGC0021368Inflammation2CTD_human
HgenePPARGC0022116Ischemia2CTD_human
HgenePPARGC0024623Malignant neoplasm of stomach2CTD_human
HgenePPARGC0025202melanoma2CTD_human
HgenePPARGC0030297Pancreatic Neoplasm2CTD_human
HgenePPARGC0038356Stomach Neoplasms2CTD_human
HgenePPARGC0346647Malignant neoplasm of pancreas2CTD_human
HgenePPARGC1708349Hereditary Diffuse Gastric Cancer2CTD_human
HgenePPARGC0001418Adenocarcinoma1CTD_human
HgenePPARGC0004153Atherosclerosis1CTD_human
HgenePPARGC0004763Barrett Esophagus1CTD_human
HgenePPARGC0007102Malignant tumor of colon1CTD_human;UNIPROT
HgenePPARGC0009375Colonic Neoplasms1CTD_human
HgenePPARGC0009402Colorectal Carcinoma1CTD_human
HgenePPARGC0009404Colorectal Neoplasms1CTD_human
HgenePPARGC0010346Crohn Disease1CTD_human
HgenePPARGC0011849Diabetes Mellitus1CTD_human
HgenePPARGC0011859Lipoatrophic Diabetes Mellitus1ORPHANET
HgenePPARGC0011881Diabetic Nephropathy1CTD_human
HgenePPARGC0017658Glomerulonephritis1CTD_human
HgenePPARGC0017667Nodular glomerulosclerosis1CTD_human
HgenePPARGC0018801Heart failure1CTD_human
HgenePPARGC0018802Congestive heart failure1CTD_human
HgenePPARGC0023212Left-Sided Heart Failure1CTD_human
HgenePPARGC0023645Lichen planus follicularis1GENOMICS_ENGLAND
HgenePPARGC0023794Lipoidosis1CTD_human
HgenePPARGC0023903Liver neoplasms1CTD_human
HgenePPARGC0025517Metabolic Diseases1CTD_human
HgenePPARGC0027746Nerve Degeneration1CTD_human
HgenePPARGC0029408Degenerative polyarthritis1CTD_human
HgenePPARGC0030246Pustulosis of Palms and Soles1CTD_human
HgenePPARGC0030625Passive Cutaneous Anaphylaxis1GENOMICS_ENGLAND
HgenePPARGC0033860Psoriasis1CTD_human
HgenePPARGC0035078Kidney Failure1CTD_human
HgenePPARGC0038525Subarachnoid Hemorrhage1CTD_human
HgenePPARGC0040136Thyroid Neoplasm1CTD_human
HgenePPARGC0079772T-Cell Lymphoma1CTD_human
HgenePPARGC0085278Antiphospholipid Syndrome1CTD_human
HgenePPARGC0085413Polycystic Kidney, Autosomal Dominant1CTD_human
HgenePPARGC0086743Osteoarthrosis Deformans1CTD_human
HgenePPARGC0086873Pseudopelade1GENOMICS_ENGLAND
HgenePPARGC0151468Thyroid Gland Follicular Adenoma1CTD_human
HgenePPARGC0156147Crohn's disease of large bowel1CTD_human
HgenePPARGC0205641Adenocarcinoma, Basal Cell1CTD_human
HgenePPARGC0205642Adenocarcinoma, Oxyphilic1CTD_human
HgenePPARGC0205643Carcinoma, Cribriform1CTD_human
HgenePPARGC0205644Carcinoma, Granular Cell1CTD_human
HgenePPARGC0205645Adenocarcinoma, Tubular1CTD_human
HgenePPARGC0206726gliosarcoma1ORPHANET
HgenePPARGC0221032Familial generalized lipodystrophy1ORPHANET
HgenePPARGC0221406Pituitary-dependent Cushing's disease1CTD_human
HgenePPARGC0235527Heart Failure, Right-Sided1CTD_human
HgenePPARGC0236811Chronobiology Disorders1CTD_human
HgenePPARGC0242339Dyslipidemias1CTD_human
HgenePPARGC0242488Acute Lung Injury1CTD_human
HgenePPARGC0267380Crohn's disease of the ileum1CTD_human
HgenePPARGC0270192Perinatal Subarachnoid Hemorrhage1CTD_human
HgenePPARGC0271694Familial partial lipodystrophy1CTD_human
HgenePPARGC0282548Leukostasis1CTD_human
HgenePPARGC0334588Giant Cell Glioblastoma1ORPHANET
HgenePPARGC0345904Malignant neoplasm of liver1CTD_human
HgenePPARGC0472383Subarachnoid Hemorrhage, Spontaneous1CTD_human
HgenePPARGC0525045Mood Disorders1PSYGENET
HgenePPARGC0549473Thyroid carcinoma1CTD_human
HgenePPARGC0598784Dyslipoproteinemias1CTD_human
HgenePPARGC0678202Regional enteritis1CTD_human
HgenePPARGC0751220Inappropriate ACTH Secretion Syndrome1CTD_human
HgenePPARGC0751530Subarachnoid Hemorrhage, Aneurysmal1CTD_human
HgenePPARGC0795688Subarachnoid Hemorrhage, Intracranial1CTD_human
HgenePPARGC0813142Circadian Rhythm Disorders1CTD_human
HgenePPARGC0887800Psychogenic Inversion of Circadian Rhythm1CTD_human
HgenePPARGC0887850Polycystic Kidney, Type 1 Autosomal Dominant Disease1CTD_human
HgenePPARGC0949272IIeocolitis1CTD_human
HgenePPARGC1258085Barrett Epithelium1CTD_human
HgenePPARGC1563937Atherogenesis1CTD_human
HgenePPARGC1565489Renal Insufficiency1CTD_human
HgenePPARGC1704377Bright Disease1CTD_human
HgenePPARGC1720859Familial Partial Lipodystrophy, Type 11CTD_human
HgenePPARGC1720860Familial Partial Lipodystrophy, Type 21CTD_human
HgenePPARGC1959583Myocardial Failure1CTD_human
HgenePPARGC1961112Heart Decompensation1CTD_human
HgenePPARGC2239176Liver carcinoma1CTD_human
HgenePPARGC2751306Polycystic kidney disease, type 21CTD_human
HgenePPARGC2931367Thyroid cancer, follicular1CTD_human
HgenePPARGC2936846Scarring alopecia1GENOMICS_ENGLAND
TgeneIQSEC1C0013336Dwarfism1GENOMICS_ENGLAND
TgeneIQSEC1C0024121Lung Neoplasms1CTD_human
TgeneIQSEC1C0233514Abnormal behavior1GENOMICS_ENGLAND
TgeneIQSEC1C0242379Malignant neoplasm of lung1CTD_human
TgeneIQSEC1C0349588Short stature1GENOMICS_ENGLAND
TgeneIQSEC1C0557874Global developmental delay1GENOMICS_ENGLAND
TgeneIQSEC1C1842364Central hypotonia1GENOMICS_ENGLAND
TgeneIQSEC1C2919142Short Stature, CTCAE1GENOMICS_ENGLAND
TgeneIQSEC1C3714756Intellectual Disability1GENOMICS_ENGLAND