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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:CCDC47-TERT (FusionGDB2 ID:HG57003TG7015)

Fusion Gene Summary for CCDC47-TERT

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC47-TERT
Fusion gene ID: hg57003tg7015
HgeneTgene
Gene symbol

CCDC47

TERT

Gene ID

57003

7015

Gene namecoiled-coil domain containing 47telomerase reverse transcriptase
SynonymsGK001|MSTP041|THNSCMM9|DKCA2|DKCB4|EST2|PFBMFT1|TCS1|TP2|TRT|hEST2|hTRT
Cytomap('CCDC47')('TERT')

17q23.3

5p15.33

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil domain-containing protein 47Calumintelomerase reverse transcriptasetelomerase catalytic subunittelomerase-associated protein 2
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000225726, ENST00000403162, 
ENST00000582252, 
Fusion gene scores* DoF score6 X 5 X 5=15022 X 7 X 15=2310
# samples 631
** MAII scorelog2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(31/2310*10)=-2.89755273102918
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointCCDC47(61850772)-TERT(1282739), # 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
TgeneTERT

GO:0001172

transcription, RNA-templated

19701182

TgeneTERT

GO:0006278

RNA-dependent DNA biosynthetic process

9398860

TgeneTERT

GO:0007004

telomere maintenance via telomerase

9443919|16043710|17940095|19701182|21531765|29695869

TgeneTERT

GO:0007005

mitochondrion organization

21937513

TgeneTERT

GO:0010629

negative regulation of gene expression

11927518

TgeneTERT

GO:0022616

DNA strand elongation

16043710

TgeneTERT

GO:0030422

production of siRNA involved in RNA interference

19701182

TgeneTERT

GO:0031647

regulation of protein stability

24415760|26194824

TgeneTERT

GO:0032092

positive regulation of protein binding

24415760

TgeneTERT

GO:0051000

positive regulation of nitric-oxide synthase activity

11927518

TgeneTERT

GO:0070200

establishment of protein localization to telomere

25589350

TgeneTERT

GO:0071897

DNA biosynthetic process

9398860|19701182

TgeneTERT

GO:1903704

negative regulation of production of siRNA involved in RNA interference

19701182

TgeneTERT

GO:1904751

positive regulation of protein localization to nucleolus

24415760

TgeneTERT

GO:2000773

negative regulation of cellular senescence

11927518



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
ChimerDB4ACCTCGA-OR-A5JS-01ACCDC47chr17

61850772

-TERTchr5

1282739

-


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Fusion Gene ORF analysis for CCDC47-TERT

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
5UTR-3CDSENST00000225726ENST00000296820CCDC47chr17

61850772

-TERTchr5

1282739

-
5UTR-3CDSENST00000225726ENST00000310581CCDC47chr17

61850772

-TERTchr5

1282739

-
5UTR-3CDSENST00000225726ENST00000334602CCDC47chr17

61850772

-TERTchr5

1282739

-
5UTR-3CDSENST00000225726ENST00000508104CCDC47chr17

61850772

-TERTchr5

1282739

-
5UTR-3CDSENST00000403162ENST00000296820CCDC47chr17

61850772

-TERTchr5

1282739

-
5UTR-3CDSENST00000403162ENST00000310581CCDC47chr17

61850772

-TERTchr5

1282739

-
5UTR-3CDSENST00000403162ENST00000334602CCDC47chr17

61850772

-TERTchr5

1282739

-
5UTR-3CDSENST00000403162ENST00000508104CCDC47chr17

61850772

-TERTchr5

1282739

-
5UTR-3CDSENST00000582252ENST00000296820CCDC47chr17

61850772

-TERTchr5

1282739

-
5UTR-3CDSENST00000582252ENST00000310581CCDC47chr17

61850772

-TERTchr5

1282739

-
5UTR-3CDSENST00000582252ENST00000334602CCDC47chr17

61850772

-TERTchr5

1282739

-
5UTR-3CDSENST00000582252ENST00000508104CCDC47chr17

61850772

-TERTchr5

1282739

-
5UTR-intronENST00000225726ENST00000522877CCDC47chr17

61850772

-TERTchr5

1282739

-
5UTR-intronENST00000403162ENST00000522877CCDC47chr17

61850772

-TERTchr5

1282739

-
5UTR-intronENST00000582252ENST00000522877CCDC47chr17

61850772

-TERTchr5

1282739

-

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 CCDC47-TERT


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 CCDC47-TERT


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/:61850772/:1282739)
- 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 CCDC47-TERT


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 CCDC47-TERT


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 CCDC47-TERT


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 CCDC47-TERT


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCCDC47C0343073Wooly hair1GENOMICS_ENGLAND
HgeneCCDC47C0557874Global developmental delay1GENOMICS_ENGLAND
HgeneCCDC47C3714756Intellectual Disability1GENOMICS_ENGLAND
HgeneCCDC47C4021780Abnormality of the liver1GENOMICS_ENGLAND
HgeneCCDC47C4748898TRICHOHEPATONEURODEVELOPMENTAL SYNDROME1GENOMICS_ENGLAND
TgeneC3151443DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 211CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC3553617PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 18CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0002874Aplastic Anemia6CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0265965Dyskeratosis Congenita5CTD_human;GENOMICS_ENGLAND
TgeneC1800706Idiopathic Pulmonary Fibrosis5CTD_human;ORPHANET
TgeneC4721508Hamman-Rich Disease5CTD_human
TgeneC4721509Usual Interstitial Pneumonia5CTD_human
TgeneC4721952Familial Idiopathic Pulmonary Fibrosis5CTD_human
TgeneC2239176Liver carcinoma4CTD_human
TgeneC0023467Leukemia, Myelocytic, Acute3CTD_human;GENOMICS_ENGLAND
TgeneC1148551X-Linked Dyskeratosis Congenita3CTD_human
TgeneC1956346Coronary Artery Disease3CTD_human;GENOMICS_ENGLAND
TgeneC0017638Glioma2CTD_human
TgeneC0024121Lung Neoplasms2CTD_human
TgeneC0025202melanoma2CTD_human;GENOMICS_ENGLAND
TgeneC0030297Pancreatic Neoplasm2CTD_human
TgeneC0033578Prostatic Neoplasms2CTD_human
TgeneC0242379Malignant neoplasm of lung2CTD_human
TgeneC0259783mixed gliomas2CTD_human
TgeneC0334488Clear cell sarcoma of kidney2ORPHANET
TgeneC0346647Malignant neoplasm of pancreas2CTD_human
TgeneC0348890Aplastic anemia, idiopathic2ORPHANET
TgeneC0376358Malignant neoplasm of prostate2CTD_human
TgeneC0555198Malignant Glioma2CTD_human
TgeneC1846142HOYERAAL-HREIDARSSON SYNDROME2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC3554574MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 92CTD_human;GENOMICS_ENGLAND
TgeneC0005684Malignant neoplasm of urinary bladder1CTD_human
TgeneC0005695Bladder Neoplasm1CTD_human
TgeneC0006142Malignant neoplasm of breast1CTD_human
TgeneC0006826Malignant Neoplasms1CTD_human
TgeneC0007131Non-Small Cell Lung Carcinoma1CTD_human
TgeneC0007873Uterine Cervical Neoplasm1CTD_human
TgeneC0010054Coronary Arteriosclerosis1CTD_human
TgeneC0010314Cri-du-Chat Syndrome1CTD_human
TgeneC0022658Kidney Diseases1CTD_human
TgeneC0023448Lymphoid leukemia1CTD_human
TgeneC0023473Myeloid Leukemia, Chronic1CTD_human
TgeneC0023903Liver neoplasms1CTD_human
TgeneC0024115Lung diseases1GENOMICS_ENGLAND
TgeneC0024141Lupus Erythematosus, Systemic1CTD_human
TgeneC0027022Myeloproliferative disease1CTD_human
TgeneC0027651Neoplasms1CTD_human
TgeneC0027819Neuroblastoma1CTD_human
TgeneC0035126Reperfusion Injury1CTD_human
TgeneC0040136Thyroid Neoplasm1CTD_human
TgeneC0041696Unipolar Depression1PSYGENET
TgeneC0085786Hamman-Rich syndrome1ORPHANET
TgeneC0086692Benign Neoplasm1CTD_human
TgeneC0151468Thyroid Gland Follicular Adenoma1CTD_human
TgeneC0178416Hypoplastic anemia1CTD_human
TgeneC0206686Adrenocortical carcinoma1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0242380Libman-Sacks Disease1CTD_human
TgeneC0345904Malignant neoplasm of liver1CTD_human
TgeneC0549473Thyroid carcinoma1CTD_human
TgeneC0678222Breast Carcinoma1CTD_human
TgeneC0919267ovarian neoplasm1CTD_human
TgeneC1140680Malignant neoplasm of ovary1CTD_human
TgeneC1257931Mammary Neoplasms, Human1CTD_human
TgeneC1269683Major Depressive Disorder1PSYGENET
TgeneC1368275Pigmented Basal Cell Carcinoma1CTD_human
TgeneC1458155Mammary Neoplasms1CTD_human
TgeneC2314896Familial Atypical Mole Melanoma Syndrome1ORPHANET
TgeneC3151444DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 41GENOMICS_ENGLAND
TgeneC4048328cervical cancer1CTD_human
TgeneC4704874Mammary Carcinoma, Human1CTD_human
TgeneC4721806Carcinoma, Basal Cell1CTD_human