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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:RCC1-DNM2 (FusionGDB2 ID:73175)

Fusion Gene Summary for RCC1-DNM2

Fusion gene summary

Fusion gene information	Fusion gene name: RCC1-DNM2
	Fusion gene ID: 73175
		Hgene	Tgene
	Gene symbol	RCC1	DNM2
	Gene ID	1104	1785
	Gene name	regulator of chromosome condensation 1	dynamin 2
	Synonyms	CHC1\|RCC1-I\|SNHG3-RCC1	CMT2M\|CMTDI1\|CMTDIB\|DI-CMTB\|DYN2\|DYNII\|LCCS5
	Cytomap	1p35.3	19p13.2
	Type of gene	protein-coding	protein-coding
	Description	regulator of chromosome condensationSNHG3-RCC1 readthroughcell cycle regulatory proteinguanine nucleotide-releasing protein	dynamin-2dynamin II
	Modification date	20200313	20200329
	UniProtAcc	RCCD1	P50570
	Ensembl transtripts involved in fusion gene	ENST00000373833, ENST00000398958, ENST00000373831, ENST00000373832, ENST00000429051,	ENST00000314646, ENST00000355667, ENST00000359692, ENST00000389253, ENST00000408974, ENST00000585892, ENST00000591819,
Fusion gene scores	* DoF score	139 X 16 X 21=46704	19 X 24 X 14=6384
	# samples	136	34
	** MAII score	log2(136/46704*10)=-5.10186755936457 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(34/6384*10)=-4.23085400008464 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: RCC1 [Title/Abstract] AND DNM2 [Title/Abstract] AND fusion [Title/Abstract]
Most frequent breakpoint	RCC1(28835417)-DNM2(10939711), # 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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	RCC1	GO:0007052	mitotic spindle organization	15014043
Hgene	RCC1	GO:0007088	regulation of mitotic nuclear division	15014043
Tgene	DNM2	GO:1903526	negative regulation of membrane tubulation	18388313

Fusion gene breakpoints across RCC1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion gene breakpoints across DNM2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	STAD	TCGA-CD-A4MJ	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+

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Fusion Gene ORF analysis for RCC1-DNM2

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5UTR-3CDS	ENST00000373833	ENST00000314646	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
5UTR-3CDS	ENST00000373833	ENST00000355667	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
5UTR-3CDS	ENST00000373833	ENST00000359692	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
5UTR-3CDS	ENST00000373833	ENST00000389253	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
5UTR-3CDS	ENST00000373833	ENST00000408974	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
5UTR-3CDS	ENST00000373833	ENST00000585892	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
5UTR-3CDS	ENST00000398958	ENST00000314646	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
5UTR-3CDS	ENST00000398958	ENST00000355667	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
5UTR-3CDS	ENST00000398958	ENST00000359692	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
5UTR-3CDS	ENST00000398958	ENST00000389253	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
5UTR-3CDS	ENST00000398958	ENST00000408974	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
5UTR-3CDS	ENST00000398958	ENST00000585892	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
5UTR-intron	ENST00000373833	ENST00000591819	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
5UTR-intron	ENST00000398958	ENST00000591819	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-3CDS	ENST00000373831	ENST00000314646	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-3CDS	ENST00000373831	ENST00000355667	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-3CDS	ENST00000373831	ENST00000359692	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-3CDS	ENST00000373831	ENST00000389253	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-3CDS	ENST00000373831	ENST00000408974	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-3CDS	ENST00000373831	ENST00000585892	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-3CDS	ENST00000373832	ENST00000314646	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-3CDS	ENST00000373832	ENST00000355667	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-3CDS	ENST00000373832	ENST00000359692	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-3CDS	ENST00000373832	ENST00000389253	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-3CDS	ENST00000373832	ENST00000408974	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-3CDS	ENST00000373832	ENST00000585892	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-3CDS	ENST00000429051	ENST00000314646	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-3CDS	ENST00000429051	ENST00000355667	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-3CDS	ENST00000429051	ENST00000359692	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-3CDS	ENST00000429051	ENST00000389253	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-3CDS	ENST00000429051	ENST00000408974	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-3CDS	ENST00000429051	ENST00000585892	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-intron	ENST00000373831	ENST00000591819	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-intron	ENST00000373832	ENST00000591819	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+
intron-intron	ENST00000429051	ENST00000591819	RCC1	chr1	28835417	+	DNM2	chr19	10939711	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

DeepORF 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.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

No-coding score

Coding score

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Fusion Genomic Features for RCC1-DNM2

FusionAI 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.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
RCC1	chr1	28835413	+	DNM2	chr19	10939711	+	4.05E-09	1
RCC1	chr1	28835413	+	DNM2	chr19	10939711	+	4.05E-09	1

Distribution 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.

Distribution 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 RCC1-DNM2

Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:28835417/:10939711)
- 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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
RCC1 RCCD1	DNM2 P50570
376	FUNCTION: Microtubule-associated force-producing protein involved in producing microtubule bundles and able to bind and hydrolyze GTP. Plays a role in the regulation of neuron morphology, axon growth and formation of neuronal growth cones (By similarity). Plays an important role in vesicular trafficking processes, in particular endocytosis. Involved in cytokinesis (PubMed:12498685). Regulates maturation of apoptotic cell corpse-containing phagosomes by recruiting PIK3C3 to the phagosome membrane (By similarity). {ECO:0000250\|UniProtKB:P39052, ECO:0000250\|UniProtKB:P39054, ECO:0000269\|PubMed:12498685}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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Fusion Gene Sequence for RCC1-DNM2

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 RCC1-DNM2

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for RCC1-DNM2

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for RCC1-DNM2

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source