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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:CCND2-CCND2 (FusionGDB2 ID:HG894TG894)

Fusion Gene Summary for CCND2-CCND2

check button Fusion gene summary
Fusion gene informationFusion gene name: CCND2-CCND2
Fusion gene ID: hg894tg894
HgeneTgene
Gene symbol

CCND2

CCND2

Gene ID

894

894

Gene namecyclin D2cyclin D2
SynonymsKIAK0002|MPPH3KIAK0002|MPPH3
Cytomap('CCND2')('CCND2')

12p13.32

12p13.32

Type of geneprotein-codingprotein-coding
DescriptionG1/S-specific cyclin-D2G1/S-specific cyclin-D2
Modification date2020031320200313
UniProtAcc

P30279

P30279

Ensembl transtripts involved in fusion geneENST00000261254, ENST00000541542, 
ENST00000261254, ENST00000541542, 
Fusion gene scores* DoF score5 X 6 X 2=604 X 6 X 3=72
# samples 66
** MAII scorelog2(6/60*10)=0log2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CCND2 [Title/Abstract] AND CCND2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCND2(4411335)-CCND2(4413194), # samples:1
CCND2(4410395)-CCND2(4411810), # 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
HgeneCCND2

GO:0001934

positive regulation of protein phosphorylation

8114739

HgeneCCND2

GO:0045737

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

8114739

TgeneCCND2

GO:0001934

positive regulation of protein phosphorylation

8114739

TgeneCCND2

GO:0045737

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

8114739



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


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Fusion Gene ORF analysis for CCND2-CCND2

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

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 CCND2-CCND2


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 CCND2-CCND2


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/:4411335/:4413194)
- 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
CCND2

P30279

CCND2

P30279

FUNCTION: Regulatory component of the cyclin D2-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 D2/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex (By similarity). {ECO:0000250}.FUNCTION: Regulatory component of the cyclin D2-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 D2/CDK4/CDKN1B, required for nuclear translocation and activity of the cyclin D-CDK4 complex (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 CCND2-CCND2


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 CCND2-CCND2


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 CCND2-CCND2


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 CCND2-CCND2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCCND2C1863924Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome2CTD_human;ORPHANET
HgeneCCND2C0007102Malignant tumor of colon1CTD_human
HgeneCCND2C0009375Colonic Neoplasms1CTD_human
HgeneCCND2C0009402Colorectal Carcinoma1CTD_human
HgeneCCND2C0009404Colorectal Neoplasms1CTD_human
HgeneCCND2C0009451Communicating Hydrocephalus1CTD_human
HgeneCCND2C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneCCND2C0016059Fibrosis1CTD_human
HgeneCCND2C0018800Cardiomegaly1CTD_human
HgeneCCND2C0020255Hydrocephalus1CTD_human
HgeneCCND2C0020256Congenital Hydrocephalus1CTD_human
HgeneCCND2C0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneCCND2C0026998Acute Myeloid Leukemia, M11CTD_human
HgeneCCND2C0033578Prostatic Neoplasms1CTD_human
HgeneCCND2C0036341Schizophrenia1PSYGENET
HgeneCCND2C0151744Myocardial Ischemia1CTD_human
HgeneCCND2C0152427Polydactyly1GENOMICS_ENGLAND
HgeneCCND2C0220697POLYDACTYLY, POSTAXIAL1CTD_human
HgeneCCND2C0221355Macrocephaly1CTD_human
HgeneCCND2C0270720Hydrocephalus Ex-Vacuo1CTD_human
HgeneCCND2C0376358Malignant neoplasm of prostate1CTD_human
HgeneCCND2C0477432Post-Traumatic Hydrocephalus1CTD_human
HgeneCCND2C0549423Obstructive Hydrocephalus1CTD_human
HgeneCCND2C0919267ovarian neoplasm1CTD_human
HgeneCCND2C1140680Malignant neoplasm of ovary1CTD_human
HgeneCCND2C1383860Cardiac Hypertrophy1CTD_human
HgeneCCND2C1531647Cerebral ventriculomegaly1CTD_human
HgeneCCND2C1623038Cirrhosis1CTD_human
HgeneCCND2C1845668Perisylvian syndrome1CTD_human
HgeneCCND2C1868120POSTAXIAL POLYDACTYLY, TYPE B1CTD_human
HgeneCCND2C1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
HgeneCCND2C1879677Alcohol Toxicity1PSYGENET
HgeneCCND2C2936718Fetal Cerebral Ventriculomegaly1CTD_human
HgeneCCND2C2936786Aqueductal Stenosis1CTD_human
HgeneCCND2C3887487Postaxial polydactyly type A1CTD_human
HgeneCCND2C4014742MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 31GENOMICS_ENGLAND;UNIPROT
HgeneCCND2C4282400Polydactyly, Postaxial, Type A11CTD_human
TgeneC1863924Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome2CTD_human;ORPHANET
TgeneC0007102Malignant tumor of colon1CTD_human
TgeneC0009375Colonic Neoplasms1CTD_human
TgeneC0009402Colorectal Carcinoma1CTD_human
TgeneC0009404Colorectal Neoplasms1CTD_human
TgeneC0009451Communicating Hydrocephalus1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0016059Fibrosis1CTD_human
TgeneC0018800Cardiomegaly1CTD_human
TgeneC0020255Hydrocephalus1CTD_human
TgeneC0020256Congenital Hydrocephalus1CTD_human
TgeneC0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneC0026998Acute Myeloid Leukemia, M11CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0151744Myocardial Ischemia1CTD_human
TgeneC0152427Polydactyly1GENOMICS_ENGLAND
TgeneC0220697POLYDACTYLY, POSTAXIAL1CTD_human
TgeneC0221355Macrocephaly1CTD_human
TgeneC0270720Hydrocephalus Ex-Vacuo1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0477432Post-Traumatic Hydrocephalus1CTD_human
TgeneC0549423Obstructive Hydrocephalus1CTD_human
TgeneC0919267ovarian neoplasm1CTD_human
TgeneC1140680Malignant neoplasm of ovary1CTD_human
TgeneC1383860Cardiac Hypertrophy1CTD_human
TgeneC1531647Cerebral ventriculomegaly1CTD_human
TgeneC1623038Cirrhosis1CTD_human
TgeneC1845668Perisylvian syndrome1CTD_human
TgeneC1868120POSTAXIAL POLYDACTYLY, TYPE B1CTD_human
TgeneC1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
TgeneC1879677Alcohol Toxicity1PSYGENET
TgeneC2936718Fetal Cerebral Ventriculomegaly1CTD_human
TgeneC2936786Aqueductal Stenosis1CTD_human
TgeneC3887487Postaxial polydactyly type A1CTD_human
TgeneC4014742MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 31GENOMICS_ENGLAND;UNIPROT
TgeneC4282400Polydactyly, Postaxial, Type A11CTD_human