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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:CDK6-POR (FusionGDB2 ID:15296)

Fusion Gene Summary for CDK6-POR

check button Fusion gene summary
Fusion gene informationFusion gene name: CDK6-POR
Fusion gene ID: 15296
HgeneTgene
Gene symbol

CDK6

POR

Gene ID

1021

7417

Gene namecyclin dependent kinase 6voltage dependent anion channel 2
SynonymsMCPH12|PLSTIREPOR
Cytomap

7q21.2

10q22.2

Type of geneprotein-codingprotein-coding
Descriptioncyclin-dependent kinase 6cell division protein kinase 6serine/threonine-protein kinase PLSTIREvoltage-dependent anion-selective channel protein 2epididymis secretory sperm binding proteinouter mitochondrial membrane protein porin 2
Modification date2020032920200313
UniProtAcc

Q00534

TMEM123

Ensembl transtripts involved in fusion geneENST00000265734, ENST00000424848, 
ENST00000491250, 
ENST00000394893, 
ENST00000419840, ENST00000461988, 
ENST00000439269, ENST00000450476, 
ENST00000475509, ENST00000545601, 
Fusion gene scores* DoF score12 X 9 X 7=7568 X 5 X 5=200
# samples 179
** MAII scorelog2(17/756*10)=-2.15285148808337
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/200*10)=-1.15200309344505
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CDK6 [Title/Abstract] AND POR [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCDK6(92462405)-POR(75583307), # 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
HgeneCDK6

GO:0001954

positive regulation of cell-matrix adhesion

10205165

HgeneCDK6

GO:0003323

type B pancreatic cell development

20668294

HgeneCDK6

GO:0006468

protein phosphorylation

8114739

HgeneCDK6

GO:0010468

regulation of gene expression

15254224

HgeneCDK6

GO:0045638

negative regulation of myeloid cell differentiation

17431401

HgeneCDK6

GO:0045656

negative regulation of monocyte differentiation

26542173

HgeneCDK6

GO:0045668

negative regulation of osteoblast differentiation

15254224

HgeneCDK6

GO:0045786

negative regulation of cell cycle

14985467

HgeneCDK6

GO:2000773

negative regulation of cellular senescence

17420273

TgenePOR

GO:0006820

anion transport

8420959


check buttonFusion gene breakpoints across CDK6 (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 POR (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
ChimerDB4STADTCGA-BR-8059-01ACDK6chr7

92462405

-PORchr7

75583307

+


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Fusion Gene ORF analysis for CDK6-POR

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-5UTRENST00000265734ENST00000394893CDK6chr7

92462405

-PORchr7

75583307

+
5CDS-5UTRENST00000265734ENST00000419840CDK6chr7

92462405

-PORchr7

75583307

+
5CDS-5UTRENST00000265734ENST00000461988CDK6chr7

92462405

-PORchr7

75583307

+
5CDS-5UTRENST00000424848ENST00000394893CDK6chr7

92462405

-PORchr7

75583307

+
5CDS-5UTRENST00000424848ENST00000419840CDK6chr7

92462405

-PORchr7

75583307

+
5CDS-5UTRENST00000424848ENST00000461988CDK6chr7

92462405

-PORchr7

75583307

+
5CDS-intronENST00000265734ENST00000439269CDK6chr7

92462405

-PORchr7

75583307

+
5CDS-intronENST00000265734ENST00000450476CDK6chr7

92462405

-PORchr7

75583307

+
5CDS-intronENST00000265734ENST00000475509CDK6chr7

92462405

-PORchr7

75583307

+
5CDS-intronENST00000265734ENST00000545601CDK6chr7

92462405

-PORchr7

75583307

+
5CDS-intronENST00000424848ENST00000439269CDK6chr7

92462405

-PORchr7

75583307

+
5CDS-intronENST00000424848ENST00000450476CDK6chr7

92462405

-PORchr7

75583307

+
5CDS-intronENST00000424848ENST00000475509CDK6chr7

92462405

-PORchr7

75583307

+
5CDS-intronENST00000424848ENST00000545601CDK6chr7

92462405

-PORchr7

75583307

+
intron-5UTRENST00000491250ENST00000394893CDK6chr7

92462405

-PORchr7

75583307

+
intron-5UTRENST00000491250ENST00000419840CDK6chr7

92462405

-PORchr7

75583307

+
intron-5UTRENST00000491250ENST00000461988CDK6chr7

92462405

-PORchr7

75583307

+
intron-intronENST00000491250ENST00000439269CDK6chr7

92462405

-PORchr7

75583307

+
intron-intronENST00000491250ENST00000450476CDK6chr7

92462405

-PORchr7

75583307

+
intron-intronENST00000491250ENST00000475509CDK6chr7

92462405

-PORchr7

75583307

+
intron-intronENST00000491250ENST00000545601CDK6chr7

92462405

-PORchr7

75583307

+

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 CDK6-POR


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)
CDK6chr792462404-PORchr775583306+2.16E-070.99999976
CDK6chr792462404-PORchr775583306+2.16E-070.99999976

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.
genomic feature of top 1%

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Fusion Protein Features for CDK6-POR


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/:92462405/:75583307)
- 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
CDK6

Q00534

POR

TMEM123

FUNCTION: Serine/threonine-protein kinase involved in the control of the cell cycle and differentiation; promotes G1/S transition. Phosphorylates pRB/RB1 and NPM1. Interacts with D-type G1 cyclins during interphase at G1 to form a pRB/RB1 kinase and controls the entrance into the cell cycle. Involved in initiation and maintenance of cell cycle exit during cell differentiation; prevents cell proliferation and regulates negatively cell differentiation, but is required for the proliferation of specific cell types (e.g. erythroid and hematopoietic cells). Essential for cell proliferation within the dentate gyrus of the hippocampus and the subventricular zone of the lateral ventricles. Required during thymocyte development. Promotes the production of newborn neurons, probably by modulating G1 length. Promotes, at least in astrocytes, changes in patterns of gene expression, changes in the actin cytoskeleton including loss of stress fibers, and enhanced motility during cell differentiation. Prevents myeloid differentiation by interfering with RUNX1 and reducing its transcription transactivation activity, but promotes proliferation of normal myeloid progenitors. Delays senescence. Promotes the proliferation of beta-cells in pancreatic islets of Langerhans. May play a role in the centrosome organization during the cell cycle phases (PubMed:23918663). {ECO:0000269|PubMed:12833137, ECO:0000269|PubMed:14985467, ECO:0000269|PubMed:15254224, ECO:0000269|PubMed:15809340, ECO:0000269|PubMed:17420273, ECO:0000269|PubMed:17431401, ECO:0000269|PubMed:20333249, ECO:0000269|PubMed:20668294, ECO:0000269|PubMed:23918663, ECO:0000269|PubMed:8114739}.208

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 CDK6-POR


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 CDK6-POR


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 CDK6-POR


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 CDK6-POR


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource