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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:RCC1-SUMO1 (FusionGDB2 ID:HG1104TG7341)

Fusion Gene Summary for RCC1-SUMO1

check button Fusion gene summary
Fusion gene informationFusion gene name: RCC1-SUMO1
Fusion gene ID: hg1104tg7341
HgeneTgene
Gene symbol

RCC1

SUMO1

Gene ID

1104

7341

Gene nameregulator of chromosome condensation 1small ubiquitin like modifier 1
SynonymsCHC1|RCC1-I|SNHG3-RCC1DAP1|GMP1|OFC10|PIC1|SENP2|SMT3|SMT3C|SMT3H3|UBL1
Cytomap('RCC1')('SUMO1')

1p35.3

2q33.1

Type of geneprotein-codingprotein-coding
Descriptionregulator of chromosome condensationSNHG3-RCC1 readthroughcell cycle regulatory proteinguanine nucleotide-releasing proteinsmall ubiquitin-related modifier 1GAP modifying protein 1SMT3 homolog 3SMT3 suppressor of mif two 3 homolog 1sentrinubiquitin-homology domain protein PIC1ubiquitin-like protein SMT3Cubiquitin-like protein UBL1
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000373833, ENST00000398958, 
ENST00000373831, ENST00000373832, 
ENST00000429051, 
Fusion gene scores* DoF score139 X 16 X 21=467044 X 3 X 2=24
# samples 1364
** MAII scorelog2(136/46704*10)=-5.10186755936457
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: RCC1 [Title/Abstract] AND SUMO1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRCC1(28834672)-SUMO1(203079157), # 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
HgeneRCC1

GO:0007052

mitotic spindle organization

15014043

HgeneRCC1

GO:0007088

regulation of mitotic nuclear division

15014043

TgeneSUMO1

GO:0016925

protein sumoylation

11889051|14752048|15572661|15637059|15959518|17696781|19223394|21965678|24651376

TgeneSUMO1

GO:0031334

positive regulation of protein complex assembly

18579533

TgeneSUMO1

GO:0032436

positive regulation of proteasomal ubiquitin-dependent protein catabolic process

18408734

TgeneSUMO1

GO:0034605

cellular response to heat

11514557

TgeneSUMO1

GO:0043392

negative regulation of DNA binding

16626738

TgeneSUMO1

GO:0045759

negative regulation of action potential

19223394

TgeneSUMO1

GO:0045892

negative regulation of transcription, DNA-templated

15572661

TgeneSUMO1

GO:0050821

protein stabilization

21968017

TgeneSUMO1

GO:0071276

cellular response to cadmium ion

11514557

TgeneSUMO1

GO:1902260

negative regulation of delayed rectifier potassium channel activity

19223394



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
ChimerDB4OVTCGA-23-1024RCC1chr1

28834672

+SUMO1chr2

203079157

-


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Fusion Gene ORF analysis for RCC1-SUMO1

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
5UTR-3CDSENST00000373833ENST00000392244RCC1chr1

28834672

+SUMO1chr2

203079157

-
5UTR-3CDSENST00000373833ENST00000392245RCC1chr1

28834672

+SUMO1chr2

203079157

-
5UTR-3CDSENST00000373833ENST00000392246RCC1chr1

28834672

+SUMO1chr2

203079157

-
5UTR-3CDSENST00000373833ENST00000409181RCC1chr1

28834672

+SUMO1chr2

203079157

-
5UTR-3CDSENST00000373833ENST00000409368RCC1chr1

28834672

+SUMO1chr2

203079157

-
5UTR-3CDSENST00000373833ENST00000409712RCC1chr1

28834672

+SUMO1chr2

203079157

-
5UTR-3CDSENST00000398958ENST00000392244RCC1chr1

28834672

+SUMO1chr2

203079157

-
5UTR-3CDSENST00000398958ENST00000392245RCC1chr1

28834672

+SUMO1chr2

203079157

-
5UTR-3CDSENST00000398958ENST00000392246RCC1chr1

28834672

+SUMO1chr2

203079157

-
5UTR-3CDSENST00000398958ENST00000409181RCC1chr1

28834672

+SUMO1chr2

203079157

-
5UTR-3CDSENST00000398958ENST00000409368RCC1chr1

28834672

+SUMO1chr2

203079157

-
5UTR-3CDSENST00000398958ENST00000409712RCC1chr1

28834672

+SUMO1chr2

203079157

-
5UTR-5UTRENST00000373833ENST00000409205RCC1chr1

28834672

+SUMO1chr2

203079157

-
5UTR-5UTRENST00000373833ENST00000409498RCC1chr1

28834672

+SUMO1chr2

203079157

-
5UTR-5UTRENST00000373833ENST00000469034RCC1chr1

28834672

+SUMO1chr2

203079157

-
5UTR-5UTRENST00000398958ENST00000409205RCC1chr1

28834672

+SUMO1chr2

203079157

-
5UTR-5UTRENST00000398958ENST00000409498RCC1chr1

28834672

+SUMO1chr2

203079157

-
5UTR-5UTRENST00000398958ENST00000469034RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-3CDSENST00000373831ENST00000392244RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-3CDSENST00000373831ENST00000392245RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-3CDSENST00000373831ENST00000392246RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-3CDSENST00000373831ENST00000409181RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-3CDSENST00000373831ENST00000409368RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-3CDSENST00000373831ENST00000409712RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-3CDSENST00000373832ENST00000392244RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-3CDSENST00000373832ENST00000392245RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-3CDSENST00000373832ENST00000392246RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-3CDSENST00000373832ENST00000409181RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-3CDSENST00000373832ENST00000409368RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-3CDSENST00000373832ENST00000409712RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-3CDSENST00000429051ENST00000392244RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-3CDSENST00000429051ENST00000392245RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-3CDSENST00000429051ENST00000392246RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-3CDSENST00000429051ENST00000409181RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-3CDSENST00000429051ENST00000409368RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-3CDSENST00000429051ENST00000409712RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-5UTRENST00000373831ENST00000409205RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-5UTRENST00000373831ENST00000409498RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-5UTRENST00000373831ENST00000469034RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-5UTRENST00000373832ENST00000409205RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-5UTRENST00000373832ENST00000409498RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-5UTRENST00000373832ENST00000469034RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-5UTRENST00000429051ENST00000409205RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-5UTRENST00000429051ENST00000409498RCC1chr1

28834672

+SUMO1chr2

203079157

-
intron-5UTRENST00000429051ENST00000469034RCC1chr1

28834672

+SUMO1chr2

203079157

-

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 RCC1-SUMO1


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 RCC1-SUMO1


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/:28834672/:203079157)
- 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 RCC1-SUMO1


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 RCC1-SUMO1


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 RCC1-SUMO1


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 RCC1-SUMO1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0008924Cleft upper lip1CTD_human
TgeneC0008925Cleft Palate1CTD_human
TgeneC0027626Neoplasm Invasiveness1CTD_human
TgeneC0810364Cleft Lip with or without Cleft Palate1GENOMICS_ENGLAND
TgeneC1837210OROFACIAL CLEFT 51GENOMICS_ENGLAND
TgeneC1837218Cleft palate, isolated1CTD_human
TgeneC1866070OROFACIAL CLEFT 101CTD_human;GENOMICS_ENGLAND