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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:ACE-CCDC47 (FusionGDB2 ID:HG1636TG57003)

Fusion Gene Summary for ACE-CCDC47

check button Fusion gene summary
Fusion gene informationFusion gene name: ACE-CCDC47
Fusion gene ID: hg1636tg57003
HgeneTgene
Gene symbol

ACE

CCDC47

Gene ID

1636

57003

Gene nameangiotensin I converting enzymecoiled-coil domain containing 47
SynonymsACE1|CD143|DCP|DCP1GK001|MSTP041|THNS
Cytomap('ACE')('CCDC47')

17q23.3

17q23.3

Type of geneprotein-codingprotein-coding
Descriptionangiotensin-converting enzymeCD143 antigenangiotensin I converting enzyme (peptidyl-dipeptidase A) 1angiotensin converting enzyme, somatic isoformcarboxycathepsindipeptidyl carboxypeptidase 1dipeptidyl carboxypeptidase Ikininase IIpeptidase Pcoiled-coil domain-containing protein 47Calumin
Modification date2020032920200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000290863, ENST00000290866, 
ENST00000413513, ENST00000421982, 
ENST00000428043, ENST00000490216, 
ENST00000577647, ENST00000538928, 
ENST00000584529, 
Fusion gene scores* DoF score3 X 3 X 2=188 X 7 X 5=280
# samples 38
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(8/280*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ACE [Title/Abstract] AND CCDC47 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointACE(61570941)-CCDC47(61850987), # 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
HgeneACE

GO:0042447

hormone catabolic process

7876104

HgeneACE

GO:0043171

peptide catabolic process

4322742|15283675

HgeneACE

GO:0050435

amyloid-beta metabolic process

18495113|19773553

HgeneACE

GO:0050482

arachidonic acid secretion

17077303

HgeneACE

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
ChimerDB4BRCATCGA-AO-A0J5-01AACEchr17

61570941

+CCDC47chr17

61850987

-


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Fusion Gene ORF analysis for ACE-CCDC47

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-5UTRENST00000290863ENST00000225726ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-5UTRENST00000290866ENST00000225726ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-5UTRENST00000413513ENST00000225726ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-5UTRENST00000421982ENST00000225726ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-5UTRENST00000428043ENST00000225726ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-5UTRENST00000490216ENST00000225726ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-5UTRENST00000577647ENST00000225726ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-intronENST00000290863ENST00000403162ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-intronENST00000290863ENST00000582252ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-intronENST00000290866ENST00000403162ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-intronENST00000290866ENST00000582252ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-intronENST00000413513ENST00000403162ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-intronENST00000413513ENST00000582252ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-intronENST00000421982ENST00000403162ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-intronENST00000421982ENST00000582252ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-intronENST00000428043ENST00000403162ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-intronENST00000428043ENST00000582252ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-intronENST00000490216ENST00000403162ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-intronENST00000490216ENST00000582252ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-intronENST00000577647ENST00000403162ACEchr17

61570941

+CCDC47chr17

61850987

-
5CDS-intronENST00000577647ENST00000582252ACEchr17

61570941

+CCDC47chr17

61850987

-
intron-5UTRENST00000538928ENST00000225726ACEchr17

61570941

+CCDC47chr17

61850987

-
intron-5UTRENST00000584529ENST00000225726ACEchr17

61570941

+CCDC47chr17

61850987

-
intron-intronENST00000538928ENST00000403162ACEchr17

61570941

+CCDC47chr17

61850987

-
intron-intronENST00000538928ENST00000582252ACEchr17

61570941

+CCDC47chr17

61850987

-
intron-intronENST00000584529ENST00000403162ACEchr17

61570941

+CCDC47chr17

61850987

-
intron-intronENST00000584529ENST00000582252ACEchr17

61570941

+CCDC47chr17

61850987

-

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 ACE-CCDC47


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 ACE-CCDC47


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/:61570941/:61850987)
- 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 ACE-CCDC47


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 ACE-CCDC47


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 ACE-CCDC47


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 ACE-CCDC47


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneACEC0002395Alzheimer's Disease5CTD_human;GENOMICS_ENGLAND
HgeneACEC0011265Presenile dementia5CTD_human
HgeneACEC0276496Familial Alzheimer Disease (FAD)5CTD_human
HgeneACEC0494463Alzheimer Disease, Late Onset5CTD_human
HgeneACEC0546126Acute Confusional Senile Dementia5CTD_human
HgeneACEC0750900Alzheimer's Disease, Focal Onset5CTD_human
HgeneACEC0750901Alzheimer Disease, Early Onset5CTD_human
HgeneACEC0005586Bipolar Disorder4PSYGENET
HgeneACEC0011881Diabetic Nephropathy4CTD_human
HgeneACEC0017667Nodular glomerulosclerosis4CTD_human
HgeneACEC0036341Schizophrenia4PSYGENET
HgeneACEC0001973Alcoholic Intoxication, Chronic3PSYGENET
HgeneACEC0007222Cardiovascular Diseases3CTD_human
HgeneACEC0020538Hypertensive disease3CTD_human
HgeneACEC0266313Allanson Pantzar McLeod syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneACEC0344315Depressed mood3PSYGENET
HgeneACEC0010200Coughing2CTD_human
HgeneACEC0017661IGA Glomerulonephritis2CTD_human
HgeneACEC0022661Kidney Failure, Chronic2CTD_human
HgeneACEC0027051Myocardial Infarction2CTD_human
HgeneACEC0041696Unipolar Depression2PSYGENET
HgeneACEC1269683Major Depressive Disorder2PSYGENET
HgeneACEC2678367Renal Tubular Dysgenesis With Choanal Atresia And Athelia2ORPHANET
HgeneACEC0001418Adenocarcinoma1CTD_human
HgeneACEC0001925Albuminuria1CTD_human
HgeneACEC0002152Alloxan Diabetes1CTD_human
HgeneACEC0003811Cardiac Arrhythmia1CTD_human
HgeneACEC0004238Atrial Fibrillation1CTD_human
HgeneACEC0004352Autistic Disorder1CTD_human
HgeneACEC0005138Berylliosis1CTD_human
HgeneACEC0007570Celiac Disease1CTD_human
HgeneACEC0007786Brain Ischemia1CTD_human
HgeneACEC0010054Coronary Arteriosclerosis1CTD_human
HgeneACEC0010068Coronary heart disease1CTD_human
HgeneACEC0011071Sudden death1CTD_human
HgeneACEC0011581Depressive disorder1PSYGENET
HgeneACEC0011853Diabetes Mellitus, Experimental1CTD_human
HgeneACEC0013182Drug Allergy1CTD_human
HgeneACEC0017205Gaucher Disease1CTD_human
HgeneACEC0017924Glycogen Storage Disease Type V1CTD_human
HgeneACEC0018801Heart failure1CTD_human
HgeneACEC0018802Congestive heart failure1CTD_human
HgeneACEC0020542Pulmonary Hypertension1CTD_human
HgeneACEC0020649Hypotension1CTD_human
HgeneACEC0021295Infant, Premature, Diseases1CTD_human
HgeneACEC0021364Male infertility1CTD_human
HgeneACEC0022658Kidney Diseases1CTD_human
HgeneACEC0023212Left-Sided Heart Failure1CTD_human
HgeneACEC0024115Lung diseases1CTD_human
HgeneACEC0024121Lung Neoplasms1CTD_human
HgeneACEC0024623Malignant neoplasm of stomach1CTD_human
HgeneACEC0025303Meningococcal Infections1CTD_human
HgeneACEC0027627Neoplasm Metastasis1CTD_human
HgeneACEC0032310Pneumonia, Viral1CTD_human
HgeneACEC0032914Pre-Eclampsia1CTD_human
HgeneACEC0033578Prostatic Neoplasms1CTD_human
HgeneACEC0033937Psychoses, Drug1CTD_human
HgeneACEC0033941Psychoses, Substance-Induced1CTD_human
HgeneACEC0035078Kidney Failure1CTD_human
HgeneACEC0035242Respiratory Tract Diseases1CTD_human
HgeneACEC0038160Staphylococcal Infections1CTD_human
HgeneACEC0038356Stomach Neoplasms1CTD_human
HgeneACEC0038433Streptozotocin Diabetes1CTD_human
HgeneACEC0038454Cerebrovascular accident1CTD_human
HgeneACEC0043094Weight Gain1CTD_human
HgeneACEC0086132Depressive Symptoms1PSYGENET
HgeneACEC0149721Left Ventricular Hypertrophy1CTD_human
HgeneACEC0205641Adenocarcinoma, Basal Cell1CTD_human
HgeneACEC0205642Adenocarcinoma, Oxyphilic1CTD_human
HgeneACEC0205643Carcinoma, Cribriform1CTD_human
HgeneACEC0205644Carcinoma, Granular Cell1CTD_human
HgeneACEC0205645Adenocarcinoma, Tubular1CTD_human
HgeneACEC0221765Chronic schizophrenia1PSYGENET
HgeneACEC0235480Paroxysmal atrial fibrillation1CTD_human
HgeneACEC0235527Heart Failure, Right-Sided1CTD_human
HgeneACEC0242379Malignant neoplasm of lung1CTD_human
HgeneACEC0268250Gaucher Disease, Type 2 (disorder)1CTD_human
HgeneACEC0268251Gaucher Disease, Type 3 (disorder)1CTD_human
HgeneACEC0376358Malignant neoplasm of prostate1CTD_human
HgeneACEC0400966Non-alcoholic Fatty Liver Disease1CTD_human
HgeneACEC0455503H/O: depression1PSYGENET
HgeneACEC0751956Acute Cerebrovascular Accidents1CTD_human
HgeneACEC0848676Subfertility, Male1CTD_human
HgeneACEC0917731Male sterility1CTD_human
HgeneACEC0917798Cerebral Ischemia1CTD_human
HgeneACEC0948480Coronary Restenosis1CTD_human
HgeneACEC1175175Severe Acute Respiratory Syndrome1CTD_human
HgeneACEC1318973Staphylococcus aureus infection1CTD_human
HgeneACEC1565489Renal Insufficiency1CTD_human
HgeneACEC1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneACEC1956346Coronary Artery Disease1CTD_human
HgeneACEC1959583Myocardial Failure1CTD_human
HgeneACEC1961112Heart Decompensation1CTD_human
HgeneACEC1961835Gaucher Disease, Type 11CTD_human
HgeneACEC2239176Liver carcinoma1CTD_human
HgeneACEC2350873Beryllium Disease1CTD_human
HgeneACEC2585653Persistent atrial fibrillation1CTD_human
HgeneACEC2937358Cerebral Hemorrhage1CTD_human
HgeneACEC3241937Nonalcoholic Steatohepatitis1CTD_human
HgeneACEC3468561familial atrial fibrillation1CTD_human
TgeneC0343073Wooly hair1GENOMICS_ENGLAND
TgeneC0557874Global developmental delay1GENOMICS_ENGLAND
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND
TgeneC4021780Abnormality of the liver1GENOMICS_ENGLAND
TgeneC4748898TRICHOHEPATONEURODEVELOPMENTAL SYNDROME1GENOMICS_ENGLAND