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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:GTF2E2-ACE (FusionGDB2 ID:HG2961TG1636)

Fusion Gene Summary for GTF2E2-ACE

check button Fusion gene summary
Fusion gene informationFusion gene name: GTF2E2-ACE
Fusion gene ID: hg2961tg1636
HgeneTgene
Gene symbol

GTF2E2

ACE

Gene ID

2961

1636

Gene namegeneral transcription factor IIE subunit 2angiotensin I converting enzyme
SynonymsFE|TF2E2|TFIIE-B|TTD6ACE1|CD143|DCP|DCP1
Cytomap('GTF2E2')('ACE')

8p12

17q23.3

Type of geneprotein-codingprotein-coding
Descriptiontranscription initiation factor IIE subunit betaTFIIE beta subunitTFIIE-betageneral transcription factor IIE, polypeptide 2, beta 34kDaangiotensin-converting enzymeCD143 antigenangiotensin I converting enzyme (peptidyl-dipeptidase A) 1angiotensin converting enzyme, somatic isoformcarboxycathepsindipeptidyl carboxypeptidase 1dipeptidyl carboxypeptidase Ikininase IIpeptidase P
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000355904, ENST00000522833, 
Fusion gene scores* DoF score12 X 9 X 7=7568 X 10 X 8=640
# samples 1511
** MAII scorelog2(15/756*10)=-2.33342373372519
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/640*10)=-2.5405683813627
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GTF2E2 [Title/Abstract] AND ACE [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGTF2E2(30510950)-ACE(61561691), # samples:3
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
HgeneGTF2E2

GO:0006366

transcription by RNA polymerase II

27193682

TgeneACE

GO:0042447

hormone catabolic process

7876104

TgeneACE

GO:0043171

peptide catabolic process

4322742|15283675

TgeneACE

GO:0050435

amyloid-beta metabolic process

18495113|19773553

TgeneACE

GO:0050482

arachidonic acid secretion

17077303

TgeneACE

GO:0060177

regulation of angiotensin metabolic process

1851160



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
ChimerDB4LUADTCGA-95-7948-01AGTF2E2chr8

30510950

-ACEchr17

61561691

+


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Fusion Gene ORF analysis for GTF2E2-ACE

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-intronENST00000355904ENST00000290863GTF2E2chr8

30510950

-ACEchr17

61561691

+
5CDS-intronENST00000355904ENST00000290866GTF2E2chr8

30510950

-ACEchr17

61561691

+
5CDS-intronENST00000355904ENST00000413513GTF2E2chr8

30510950

-ACEchr17

61561691

+
5CDS-intronENST00000355904ENST00000421982GTF2E2chr8

30510950

-ACEchr17

61561691

+
5CDS-intronENST00000355904ENST00000428043GTF2E2chr8

30510950

-ACEchr17

61561691

+
5CDS-intronENST00000355904ENST00000490216GTF2E2chr8

30510950

-ACEchr17

61561691

+
5CDS-intronENST00000355904ENST00000538928GTF2E2chr8

30510950

-ACEchr17

61561691

+
5CDS-intronENST00000355904ENST00000577647GTF2E2chr8

30510950

-ACEchr17

61561691

+
5CDS-intronENST00000355904ENST00000584529GTF2E2chr8

30510950

-ACEchr17

61561691

+
intron-intronENST00000522833ENST00000290863GTF2E2chr8

30510950

-ACEchr17

61561691

+
intron-intronENST00000522833ENST00000290866GTF2E2chr8

30510950

-ACEchr17

61561691

+
intron-intronENST00000522833ENST00000413513GTF2E2chr8

30510950

-ACEchr17

61561691

+
intron-intronENST00000522833ENST00000421982GTF2E2chr8

30510950

-ACEchr17

61561691

+
intron-intronENST00000522833ENST00000428043GTF2E2chr8

30510950

-ACEchr17

61561691

+
intron-intronENST00000522833ENST00000490216GTF2E2chr8

30510950

-ACEchr17

61561691

+
intron-intronENST00000522833ENST00000538928GTF2E2chr8

30510950

-ACEchr17

61561691

+
intron-intronENST00000522833ENST00000577647GTF2E2chr8

30510950

-ACEchr17

61561691

+
intron-intronENST00000522833ENST00000584529GTF2E2chr8

30510950

-ACEchr17

61561691

+

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 GTF2E2-ACE


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)
GTF2E2chr830510949-ACEchr1761561690+8.05E-091
GTF2E2chr830510949-ACEchr1761561690+8.05E-091


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.
genomic feature of top 1%

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Fusion Protein Features for GTF2E2-ACE


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/:30510950/:61561691)
- 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 GTF2E2-ACE


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 GTF2E2-ACE


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 GTF2E2-ACE


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 GTF2E2-ACE


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGTF2E2C1955934Trichothiodystrophy Syndromes1ORPHANET
HgeneGTF2E2C4310785TRICHOTHIODYSTROPHY 6, NONPHOTOSENSITIVE1CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0002395Alzheimer's Disease5CTD_human;GENOMICS_ENGLAND
TgeneC0011265Presenile dementia5CTD_human
TgeneC0276496Familial Alzheimer Disease (FAD)5CTD_human
TgeneC0494463Alzheimer Disease, Late Onset5CTD_human
TgeneC0546126Acute Confusional Senile Dementia5CTD_human
TgeneC0750900Alzheimer's Disease, Focal Onset5CTD_human
TgeneC0750901Alzheimer Disease, Early Onset5CTD_human
TgeneC0005586Bipolar Disorder4PSYGENET
TgeneC0011881Diabetic Nephropathy4CTD_human
TgeneC0017667Nodular glomerulosclerosis4CTD_human
TgeneC0036341Schizophrenia4PSYGENET
TgeneC0001973Alcoholic Intoxication, Chronic3PSYGENET
TgeneC0007222Cardiovascular Diseases3CTD_human
TgeneC0020538Hypertensive disease3CTD_human
TgeneC0266313Allanson Pantzar McLeod syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0344315Depressed mood3PSYGENET
TgeneC0010200Coughing2CTD_human
TgeneC0017661IGA Glomerulonephritis2CTD_human
TgeneC0022661Kidney Failure, Chronic2CTD_human
TgeneC0027051Myocardial Infarction2CTD_human
TgeneC0041696Unipolar Depression2PSYGENET
TgeneC1269683Major Depressive Disorder2PSYGENET
TgeneC2678367Renal Tubular Dysgenesis With Choanal Atresia And Athelia2ORPHANET
TgeneC0001418Adenocarcinoma1CTD_human
TgeneC0001925Albuminuria1CTD_human
TgeneC0002152Alloxan Diabetes1CTD_human
TgeneC0003811Cardiac Arrhythmia1CTD_human
TgeneC0004238Atrial Fibrillation1CTD_human
TgeneC0004352Autistic Disorder1CTD_human
TgeneC0005138Berylliosis1CTD_human
TgeneC0007570Celiac Disease1CTD_human
TgeneC0007786Brain Ischemia1CTD_human
TgeneC0010054Coronary Arteriosclerosis1CTD_human
TgeneC0010068Coronary heart disease1CTD_human
TgeneC0011071Sudden death1CTD_human
TgeneC0011581Depressive disorder1PSYGENET
TgeneC0011853Diabetes Mellitus, Experimental1CTD_human
TgeneC0013182Drug Allergy1CTD_human
TgeneC0017205Gaucher Disease1CTD_human
TgeneC0017924Glycogen Storage Disease Type V1CTD_human
TgeneC0018801Heart failure1CTD_human
TgeneC0018802Congestive heart failure1CTD_human
TgeneC0020542Pulmonary Hypertension1CTD_human
TgeneC0020649Hypotension1CTD_human
TgeneC0021295Infant, Premature, Diseases1CTD_human
TgeneC0021364Male infertility1CTD_human
TgeneC0022658Kidney Diseases1CTD_human
TgeneC0023212Left-Sided Heart Failure1CTD_human
TgeneC0024115Lung diseases1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0025303Meningococcal Infections1CTD_human
TgeneC0027627Neoplasm Metastasis1CTD_human
TgeneC0032310Pneumonia, Viral1CTD_human
TgeneC0032914Pre-Eclampsia1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0033937Psychoses, Drug1CTD_human
TgeneC0033941Psychoses, Substance-Induced1CTD_human
TgeneC0035078Kidney Failure1CTD_human
TgeneC0035242Respiratory Tract Diseases1CTD_human
TgeneC0038160Staphylococcal Infections1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0038433Streptozotocin Diabetes1CTD_human
TgeneC0038454Cerebrovascular accident1CTD_human
TgeneC0043094Weight Gain1CTD_human
TgeneC0086132Depressive Symptoms1PSYGENET
TgeneC0149721Left Ventricular Hypertrophy1CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneC0205643Carcinoma, Cribriform1CTD_human
TgeneC0205644Carcinoma, Granular Cell1CTD_human
TgeneC0205645Adenocarcinoma, Tubular1CTD_human
TgeneC0221765Chronic schizophrenia1PSYGENET
TgeneC0235480Paroxysmal atrial fibrillation1CTD_human
TgeneC0235527Heart Failure, Right-Sided1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0268250Gaucher Disease, Type 2 (disorder)1CTD_human
TgeneC0268251Gaucher Disease, Type 3 (disorder)1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0400966Non-alcoholic Fatty Liver Disease1CTD_human
TgeneC0455503H/O: depression1PSYGENET
TgeneC0751956Acute Cerebrovascular Accidents1CTD_human
TgeneC0848676Subfertility, Male1CTD_human
TgeneC0917731Male sterility1CTD_human
TgeneC0917798Cerebral Ischemia1CTD_human
TgeneC0948480Coronary Restenosis1CTD_human
TgeneC1175175Severe Acute Respiratory Syndrome1CTD_human
TgeneC1318973Staphylococcus aureus infection1CTD_human
TgeneC1565489Renal Insufficiency1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC1956346Coronary Artery Disease1CTD_human
TgeneC1959583Myocardial Failure1CTD_human
TgeneC1961112Heart Decompensation1CTD_human
TgeneC1961835Gaucher Disease, Type 11CTD_human
TgeneC2239176Liver carcinoma1CTD_human
TgeneC2350873Beryllium Disease1CTD_human
TgeneC2585653Persistent atrial fibrillation1CTD_human
TgeneC2937358Cerebral Hemorrhage1CTD_human
TgeneC3241937Nonalcoholic Steatohepatitis1CTD_human
TgeneC3468561familial atrial fibrillation1CTD_human