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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:MBNL3-CCND1 (FusionGDB2 ID:HG55796TG595)

Fusion Gene Summary for MBNL3-CCND1

check button Fusion gene summary
Fusion gene informationFusion gene name: MBNL3-CCND1
Fusion gene ID: hg55796tg595
HgeneTgene
Gene symbol

MBNL3

CCND1

Gene ID

55796

595

Gene namemuscleblind like splicing regulator 3cyclin D1
SynonymsCHCR|MBLX|MBLX39|MBXLBCL1|D11S287E|PRAD1|U21B31
Cytomap('MBNL3')('CCND1')

Xq26.2

11q13.3

Type of geneprotein-codingprotein-coding
Descriptionmuscleblind-like protein 3Cys3His CCG1-required proteinmuscleblind-like 3muscleblind-like X-linked proteinG1/S-specific cyclin-D1B-cell CLL/lymphoma 1B-cell lymphoma 1 proteinBCL-1 oncogenePRAD1 oncogene
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000370839, ENST00000370844, 
ENST00000370849, ENST00000370853, 
ENST00000370857, ENST00000394311, 
ENST00000473364, ENST00000538204, 
Fusion gene scores* DoF score2 X 2 X 1=415 X 16 X 5=1200
# samples 216
** MAII scorelog2(2/4*10)=2.32192809488736log2(16/1200*10)=-2.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MBNL3 [Title/Abstract] AND CCND1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMBNL3(131508312)-CCND1(69467548), # 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
HgeneMBNL3

GO:0043484

regulation of RNA splicing

15257297

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 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
ChiTaRS5.0N/ADA845111MBNL3chrX

131508312

-CCND1chr11

69467548

+


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Fusion Gene ORF analysis for MBNL3-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-3UTRENST00000370839ENST00000227507MBNL3chrX

131508312

-CCND1chr11

69467548

+
intron-3UTRENST00000370844ENST00000227507MBNL3chrX

131508312

-CCND1chr11

69467548

+
intron-3UTRENST00000370849ENST00000227507MBNL3chrX

131508312

-CCND1chr11

69467548

+
intron-3UTRENST00000370853ENST00000227507MBNL3chrX

131508312

-CCND1chr11

69467548

+
intron-3UTRENST00000370857ENST00000227507MBNL3chrX

131508312

-CCND1chr11

69467548

+
intron-3UTRENST00000394311ENST00000227507MBNL3chrX

131508312

-CCND1chr11

69467548

+
intron-3UTRENST00000473364ENST00000227507MBNL3chrX

131508312

-CCND1chr11

69467548

+
intron-3UTRENST00000538204ENST00000227507MBNL3chrX

131508312

-CCND1chr11

69467548

+
intron-intronENST00000370839ENST00000536559MBNL3chrX

131508312

-CCND1chr11

69467548

+
intron-intronENST00000370844ENST00000536559MBNL3chrX

131508312

-CCND1chr11

69467548

+
intron-intronENST00000370849ENST00000536559MBNL3chrX

131508312

-CCND1chr11

69467548

+
intron-intronENST00000370853ENST00000536559MBNL3chrX

131508312

-CCND1chr11

69467548

+
intron-intronENST00000370857ENST00000536559MBNL3chrX

131508312

-CCND1chr11

69467548

+
intron-intronENST00000394311ENST00000536559MBNL3chrX

131508312

-CCND1chr11

69467548

+
intron-intronENST00000473364ENST00000536559MBNL3chrX

131508312

-CCND1chr11

69467548

+
intron-intronENST00000538204ENST00000536559MBNL3chrX

131508312

-CCND1chr11

69467548

+

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 MBNL3-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)


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Fusion Protein Features for MBNL3-CCND1


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/:131508312/:69467548)
- 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 MBNL3-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 MBNL3-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 MBNL3-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

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Related Diseases for MBNL3-CCND1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0006142Malignant neoplasm of breast6CTD_human
TgeneC0678222Breast Carcinoma6CTD_human
TgeneC1257931Mammary Neoplasms, Human6CTD_human
TgeneC1458155Mammary Neoplasms6CTD_human
TgeneC4704874Mammary Carcinoma, Human6CTD_human
TgeneC2239176Liver carcinoma5CTD_human
TgeneC0007097Carcinoma4CTD_human
TgeneC0007102Malignant tumor of colon4CTD_human
TgeneC0009375Colonic Neoplasms4CTD_human
TgeneC0024667Animal Mammary Neoplasms4CTD_human
TgeneC0205696Anaplastic carcinoma4CTD_human
TgeneC0205697Carcinoma, Spindle-Cell4CTD_human
TgeneC0205698Undifferentiated carcinoma4CTD_human
TgeneC0205699Carcinomatosis4CTD_human
TgeneC1257925Mammary Carcinoma, Animal4CTD_human
TgeneC0024668Mammary Neoplasms, Experimental3CTD_human
TgeneC0006118Brain Neoplasms2CTD_human
TgeneC0007621Neoplastic Cell Transformation2CTD_human
TgeneC0020507Hyperplasia2CTD_human
TgeneC0024121Lung Neoplasms2CTD_human
TgeneC0153633Malignant neoplasm of brain2CTD_human
TgeneC0242379Malignant neoplasm of lung2CTD_human
TgeneC0334634Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse2CTD_human
TgeneC0496899Benign neoplasm of brain, unspecified2CTD_human
TgeneC0750974Brain Tumor, Primary2CTD_human
TgeneC0750977Recurrent Brain Neoplasm2CTD_human
TgeneC0750979Primary malignant neoplasm of brain2CTD_human
TgeneC0751958Lymphoma, Lymphocytic, Intermediate2CTD_human
TgeneC1168401Squamous cell carcinoma of the head and neck2CTD_human
TgeneC1527390Neoplasms, Intracranial2CTD_human
TgeneC0001418Adenocarcinoma1CTD_human
TgeneC0006079Bowen's Disease1CTD_human
TgeneC0007137Squamous cell carcinoma1CTD_human
TgeneC0007138Carcinoma, Transitional Cell1CTD_human
TgeneC0007528Cecal Neoplasms1CTD_human
TgeneC0007873Uterine Cervical Neoplasm1CTD_human
TgeneC0010606Adenoid Cystic Carcinoma1CTD_human
TgeneC0014170Endometrial Neoplasms1CTD_human
TgeneC0014859Esophageal Neoplasms1CTD_human
TgeneC0018923Hemangiosarcoma1CTD_human
TgeneC0019207Hepatoma, Morris1CTD_human
TgeneC0019208Hepatoma, Novikoff1CTD_human
TgeneC0020502Hyperparathyroidism1CTD_human
TgeneC0021846Intestinal Polyps1CTD_human
TgeneC0022665Kidney Neoplasm1CTD_human
TgeneC0023418leukemia1CTD_human
TgeneC0023903Liver neoplasms1CTD_human
TgeneC0023904Liver Neoplasms, Experimental1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0026764Multiple Myeloma1CTD_human;ORPHANET
TgeneC0027659Neoplasms, Experimental1CTD_human
TgeneC0030354Papilloma1CTD_human
TgeneC0032927Precancerous Conditions1CTD_human
TgeneC0033578Prostatic Neoplasms1CTD_human
TgeneC0036095Salivary Gland Neoplasms1CTD_human
TgeneC0036341Schizophrenia1PSYGENET
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0040136Thyroid Neoplasm1CTD_human
TgeneC0041696Unipolar Depression1PSYGENET
TgeneC0042076Urologic Neoplasms1CTD_human
TgeneC0086404Experimental Hepatoma1CTD_human
TgeneC0151468Thyroid Gland Follicular Adenoma1CTD_human
TgeneC0151744Myocardial Ischemia1CTD_human
TgeneC0153437Malignant neoplasm of cecum1CTD_human
TgeneC0205641Adenocarcinoma, Basal Cell1CTD_human
TgeneC0205642Adenocarcinoma, Oxyphilic1CTD_human
TgeneC0205643Carcinoma, Cribriform1CTD_human
TgeneC0205644Carcinoma, Granular Cell1CTD_human
TgeneC0205645Adenocarcinoma, Tubular1CTD_human
TgeneC0205874Papilloma, Squamous Cell1CTD_human
TgeneC0205875Papillomatosis1CTD_human
TgeneC0220636Malignant neoplasm of salivary gland1CTD_human
TgeneC0235874Disease Exacerbation1CTD_human
TgeneC0279626Squamous cell carcinoma of esophagus1CTD_human
TgeneC0282313Condition, Preneoplastic1CTD_human
TgeneC0345904Malignant neoplasm of liver1CTD_human
TgeneC0376358Malignant neoplasm of prostate1CTD_human
TgeneC0476089Endometrial Carcinoma1CTD_human
TgeneC0546837Malignant neoplasm of esophagus1CTD_human
TgeneC0549473Thyroid carcinoma1CTD_human
TgeneC0740457Malignant neoplasm of kidney1CTD_human
TgeneC0751571Cancer of Urinary Tract1CTD_human
TgeneC0919532Genomic Instability1CTD_human
TgeneC1269683Major Depressive Disorder1PSYGENET
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC2931822Nasopharyngeal carcinoma1CTD_human
TgeneC4048328cervical cancer1CTD_human