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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:ORAOV1-CCND1 (FusionGDB2 ID:61264)

Fusion Gene Summary for ORAOV1-CCND1

check button Fusion gene summary
Fusion gene informationFusion gene name: ORAOV1-CCND1
Fusion gene ID: 61264
HgeneTgene
Gene symbol

ORAOV1

CCND1

Gene ID

220064

595

Gene nameLTO1 maturation factor of ABCE1cyclin D1
SynonymsCIAB1|ORAOV1|TAOS1BCL1|D11S287E|PRAD1|U21B31
Cytomap

11q13.3

11q13.3

Type of geneprotein-codingprotein-coding
Descriptionprotein LTO1 homologLTO1, ABCE1 maturation factororal cancer overexpressed 1oral cancer overexpressed protein 1-Aoral cancer-overexpressed protein 1tumor-amplified and overexpressed sequence 1G1/S-specific cyclin-D1B-cell CLL/lymphoma 1B-cell lymphoma 1 proteinBCL-1 oncogenePRAD1 oncogene
Modification date2020031320200327
UniProtAcc.

P24385

Ensembl transtripts involved in fusion geneENST00000542515, ENST00000279147, 
ENST00000536870, ENST00000535657, 
ENST00000539414, ENST00000542341, 
ENST00000227507, ENST00000536559, 
Fusion gene scores* DoF score9 X 7 X 7=44115 X 16 X 5=1200
# samples 916
** MAII scorelog2(9/441*10)=-2.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1200*10)=-2.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ORAOV1 [Title/Abstract] AND CCND1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointORAOV1(69489958)-CCND1(69457799), # samples:2
CCND1(69467285)-ORAOV1(69469292), # 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
HgeneORAOV1

GO:0106035

protein maturation by [4Fe-4S] cluster transfer

26182403

TgeneCCND1

GO:0000082

G1/S transition of mitotic cell cycle

19412162

TgeneCCND1

GO:0000122

negative regulation of transcription by RNA polymerase II

16569215|18417529

TgeneCCND1

GO:0001934

positive regulation of protein phosphorylation

8114739

TgeneCCND1

GO:0006974

cellular response to DNA damage stimulus

19412162

TgeneCCND1

GO:0010971

positive regulation of G2/M transition of mitotic cell cycle

19124461

TgeneCCND1

GO:0031571

mitotic G1 DNA damage checkpoint

19412162

TgeneCCND1

GO:0044321

response to leptin

17344214

TgeneCCND1

GO:0045737

positive regulation of cyclin-dependent protein serine/threonine kinase activity

8114739

TgeneCCND1

GO:0070141

response to UV-A

18483258

TgeneCCND1

GO:0071157

negative regulation of cell cycle arrest

19124461


check buttonFusion gene breakpoints across ORAOV1 (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 CCND1 (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
ChimerDB4HNSCTCGA-DQ-7589ORAOV1chr11

69489958

-CCND1chr11

69457799

+
ChimerDB4HNSCTCGA-DQ-7589-01AORAOV1chr11

69489958

-CCND1chr11

69457799

+


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Fusion Gene ORF analysis for ORAOV1-CCND1

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-3CDSENST00000542515ENST00000227507ORAOV1chr11

69489958

-CCND1chr11

69457799

+
intron-intronENST00000542515ENST00000536559ORAOV1chr11

69489958

-CCND1chr11

69457799

+
In-frameENST00000279147ENST00000227507ORAOV1chr11

69489958

-CCND1chr11

69457799

+
5CDS-intronENST00000279147ENST00000536559ORAOV1chr11

69489958

-CCND1chr11

69457799

+
In-frameENST00000536870ENST00000227507ORAOV1chr11

69489958

-CCND1chr11

69457799

+
5CDS-intronENST00000536870ENST00000536559ORAOV1chr11

69489958

-CCND1chr11

69457799

+
In-frameENST00000535657ENST00000227507ORAOV1chr11

69489958

-CCND1chr11

69457799

+
5CDS-intronENST00000535657ENST00000536559ORAOV1chr11

69489958

-CCND1chr11

69457799

+
In-frameENST00000539414ENST00000227507ORAOV1chr11

69489958

-CCND1chr11

69457799

+
5CDS-intronENST00000539414ENST00000536559ORAOV1chr11

69489958

-CCND1chr11

69457799

+
In-frameENST00000542341ENST00000227507ORAOV1chr11

69489958

-CCND1chr11

69457799

+
5CDS-intronENST00000542341ENST00000536559ORAOV1chr11

69489958

-CCND1chr11

69457799

+

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 ORAOV1-CCND1


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)
ORAOV1chr1169489957-CCND1chr1169457798+0.0001969710.999803
ORAOV1chr1169489957-CCND1chr1169457798+0.0001969710.999803
ORAOV1chr1169489957-CCND1chr1169457798+0.0001969710.999803
ORAOV1chr1169489957-CCND1chr1169457798+0.0001969710.999803

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 ORAOV1-CCND1


check button Go to

FGviewer for the breakpoints of chr11:69489958-chr11:69457799

.
- 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
.CCND1

P24385

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: Regulatory component of the cyclin D1-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition. Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression through the G(1) phase. Hypophosphorylates RB1 in early G(1) phase. Cyclin D-CDK4 complexes are major integrators of various mitogenenic and antimitogenic signals. Also substrate for SMAD3, phosphorylating SMAD3 in a cell-cycle-dependent manner and repressing its transcriptional activity. Component of the ternary complex, cyclin D1/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex. Exhibits transcriptional corepressor activity with INSM1 on the NEUROD1 and INS promoters in a cell cycle-independent manner. {ECO:0000269|PubMed:15241418, ECO:0000269|PubMed:16569215, ECO:0000269|PubMed:18417529, ECO:0000269|PubMed:9106657}.

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
TgeneCCND1chr11:69489958chr11:69457799ENST0000022750705272_28066.0296.0Compositional biasNote=Poly-Glu

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneCCND1chr11:69489958chr11:69457799ENST000002275070528_15266.0296.0DomainNote=Cyclin N-terminal


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Fusion Gene Sequence for ORAOV1-CCND1


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 ORAOV1-CCND1


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 ORAOV1-CCND1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneCCND1P24385DB01169Arsenic trioxideAntagonistSmall moleculeApproved|Investigational
TgeneCCND1P24385DB01169Arsenic trioxideAntagonistSmall moleculeApproved|Investigational
TgeneCCND1P24385DB01169Arsenic trioxideAntagonistSmall moleculeApproved|Investigational
TgeneCCND1P24385DB11718EncorafenibInhibitorSmall moleculeApproved|Investigational
TgeneCCND1P24385DB11718EncorafenibInhibitorSmall moleculeApproved|Investigational
TgeneCCND1P24385DB11718EncorafenibInhibitorSmall moleculeApproved|Investigational
TgeneCCND1P24385DB00945Acetylsalicylic acidDownregulatorSmall moleculeApproved|Vet_approved
TgeneCCND1P24385DB00945Acetylsalicylic acidDownregulatorSmall moleculeApproved|Vet_approved
TgeneCCND1P24385DB00945Acetylsalicylic acidDownregulatorSmall moleculeApproved|Vet_approved

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Related Diseases for ORAOV1-CCND1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCCND1C0006142Malignant neoplasm of breast6CTD_human
TgeneCCND1C0678222Breast Carcinoma6CTD_human
TgeneCCND1C1257931Mammary Neoplasms, Human6CTD_human
TgeneCCND1C1458155Mammary Neoplasms6CTD_human
TgeneCCND1C4704874Mammary Carcinoma, Human6CTD_human
TgeneCCND1C2239176Liver carcinoma5CTD_human
TgeneCCND1C0007097Carcinoma4CTD_human
TgeneCCND1C0007102Malignant tumor of colon4CTD_human
TgeneCCND1C0009375Colonic Neoplasms4CTD_human
TgeneCCND1C0024667Animal Mammary Neoplasms4CTD_human
TgeneCCND1C0205696Anaplastic carcinoma4CTD_human
TgeneCCND1C0205697Carcinoma, Spindle-Cell4CTD_human
TgeneCCND1C0205698Undifferentiated carcinoma4CTD_human
TgeneCCND1C0205699Carcinomatosis4CTD_human
TgeneCCND1C1257925Mammary Carcinoma, Animal4CTD_human
TgeneCCND1C0024668Mammary Neoplasms, Experimental3CTD_human
TgeneCCND1C0006118Brain Neoplasms2CTD_human
TgeneCCND1C0007621Neoplastic Cell Transformation2CTD_human
TgeneCCND1C0020507Hyperplasia2CTD_human
TgeneCCND1C0024121Lung Neoplasms2CTD_human
TgeneCCND1C0153633Malignant neoplasm of brain2CTD_human
TgeneCCND1C0242379Malignant neoplasm of lung2CTD_human
TgeneCCND1C0334634Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse2CTD_human
TgeneCCND1C0496899Benign neoplasm of brain, unspecified2CTD_human
TgeneCCND1C0750974Brain Tumor, Primary2CTD_human
TgeneCCND1C0750977Recurrent Brain Neoplasm2CTD_human
TgeneCCND1C0750979Primary malignant neoplasm of brain2CTD_human
TgeneCCND1C0751958Lymphoma, Lymphocytic, Intermediate2CTD_human
TgeneCCND1C1168401Squamous cell carcinoma of the head and neck2CTD_human
TgeneCCND1C1527390Neoplasms, Intracranial2CTD_human
TgeneCCND1C0001418Adenocarcinoma1CTD_human
TgeneCCND1C0006079Bowen's Disease1CTD_human
TgeneCCND1C0007137Squamous cell carcinoma1CTD_human
TgeneCCND1C0007138Carcinoma, Transitional Cell1CTD_human
TgeneCCND1C0007528Cecal Neoplasms1CTD_human
TgeneCCND1C0007873Uterine Cervical Neoplasm1CTD_human
TgeneCCND1C0010606Adenoid Cystic Carcinoma1CTD_human
TgeneCCND1C0014170Endometrial Neoplasms1CTD_human
TgeneCCND1C0014859Esophageal Neoplasms1CTD_human
TgeneCCND1C0018923Hemangiosarcoma1CTD_human
TgeneCCND1C0019207Hepatoma, Morris1CTD_human
TgeneCCND1C0019208Hepatoma, Novikoff1CTD_human
TgeneCCND1C0020502Hyperparathyroidism1CTD_human
TgeneCCND1C0021846Intestinal Polyps1CTD_human
TgeneCCND1C0022665Kidney Neoplasm1CTD_human
TgeneCCND1C0023418leukemia1CTD_human
TgeneCCND1C0023903Liver neoplasms1CTD_human
TgeneCCND1C0023904Liver Neoplasms, Experimental1CTD_human
TgeneCCND1C0024623Malignant neoplasm of stomach1CTD_human
TgeneCCND1C0026764Multiple Myeloma1CTD_human;ORPHANET
TgeneCCND1C0027659Neoplasms, Experimental1CTD_human
TgeneCCND1C0030354Papilloma1CTD_human
TgeneCCND1C0032927Precancerous Conditions1CTD_human
TgeneCCND1C0033578Prostatic Neoplasms1CTD_human
TgeneCCND1C0036095Salivary Gland Neoplasms1CTD_human
TgeneCCND1C0036341Schizophrenia1PSYGENET
TgeneCCND1C0038356Stomach Neoplasms1CTD_human
TgeneCCND1C0040136Thyroid Neoplasm1CTD_human
TgeneCCND1C0041696Unipolar Depression1PSYGENET
TgeneCCND1C0042076Urologic Neoplasms1CTD_human
TgeneCCND1C0086404Experimental Hepatoma1CTD_human
TgeneCCND1C0151468Thyroid Gland Follicular Adenoma1CTD_human
TgeneCCND1C0151744Myocardial Ischemia1CTD_human
TgeneCCND1C0153437Malignant neoplasm of cecum1CTD_human
TgeneCCND1C0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneCCND1C0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneCCND1C0205643Carcinoma, Cribriform1CTD_human
TgeneCCND1C0205644Carcinoma, Granular Cell1CTD_human
TgeneCCND1C0205645Adenocarcinoma, Tubular1CTD_human
TgeneCCND1C0205874Papilloma, Squamous Cell1CTD_human
TgeneCCND1C0205875Papillomatosis1CTD_human
TgeneCCND1C0220636Malignant neoplasm of salivary gland1CTD_human
TgeneCCND1C0235874Disease Exacerbation1CTD_human
TgeneCCND1C0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneCCND1C0282313Condition, Preneoplastic1CTD_human
TgeneCCND1C0345904Malignant neoplasm of liver1CTD_human
TgeneCCND1C0376358Malignant neoplasm of prostate1CTD_human
TgeneCCND1C0476089Endometrial Carcinoma1CTD_human
TgeneCCND1C0546837Malignant neoplasm of esophagus1CTD_human
TgeneCCND1C0549473Thyroid carcinoma1CTD_human
TgeneCCND1C0740457Malignant neoplasm of kidney1CTD_human
TgeneCCND1C0751571Cancer of Urinary Tract1CTD_human
TgeneCCND1C0919532Genomic Instability1CTD_human
TgeneCCND1C1269683Major Depressive Disorder1PSYGENET
TgeneCCND1C1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneCCND1C2931822Nasopharyngeal carcinoma1CTD_human
TgeneCCND1C4048328cervical cancer1CTD_human