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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:CUL1-CUL1 (FusionGDB2 ID:20648)

Fusion Gene Summary for CUL1-CUL1

check button Fusion gene summary
Fusion gene informationFusion gene name: CUL1-CUL1
Fusion gene ID: 20648
HgeneTgene
Gene symbol

CUL1

CUL1

Gene ID

8454

8454

Gene namecullin 1cullin 1
Synonyms--
Cytomap

7q36.1

7q36.1

Type of geneprotein-codingprotein-coding
Descriptioncullin-1CUL-1cullin-1CUL-1
Modification date2020032720200327
UniProtAcc.

Q13616

Ensembl transtripts involved in fusion geneENST00000409469, ENST00000602748, 
ENST00000325222, 		ENST00000409469, 
ENST00000602748, ENST00000325222, 
Fusion gene scores* DoF score6 X 8 X 3=1447 X 9 X 4=252
# samples 811
** MAII scorelog2(8/144*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/252*10)=-1.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CUL1 [Title/Abstract] AND CUL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCUL1(148484065)-CUL1(148484150), # samples:1
CUL1(148497664)-CUL1(148496416), # samples:1
CUL1(148496416)-CUL1(148497664), # samples:1
Anticipated loss of major functional domain due to fusion event.CUL1-CUL1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
CUL1-CUL1 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF.
CUL1-CUL1 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF.
CUL1-CUL1 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF.
* 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
HgeneCUL1

GO:0016567

protein ubiquitination

15103331

HgeneCUL1

GO:0031146

SCF-dependent proteasomal ubiquitin-dependent protein catabolic process

15103331

TgeneCUL1

GO:0016567

protein ubiquitination

15103331

TgeneCUL1

GO:0031146

SCF-dependent proteasomal ubiquitin-dependent protein catabolic process

15103331


check buttonFusion gene breakpoints across CUL1 (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 CUL1 (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
ChiTaRS5.0N/ABE168218CUL1chr7

148484065

+CUL1chr7

148484150

-
ChiTaRS5.0N/ABM127921CUL1chr7

148497664

-CUL1chr7

148496416

+
ChiTaRS5.0N/ABM128230CUL1chr7

148496416

-CUL1chr7

148497664

+


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Fusion Gene ORF analysis for CUL1-CUL1

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-3CDSENST00000409469ENST00000409469CUL1chr7

148484065

+CUL1chr7

148484150

-
intron-3CDSENST00000409469ENST00000602748CUL1chr7

148484065

+CUL1chr7

148484150

-
intron-3CDSENST00000409469ENST00000325222CUL1chr7

148484065

+CUL1chr7

148484150

-
intron-3CDSENST00000602748ENST00000409469CUL1chr7

148484065

+CUL1chr7

148484150

-
intron-3CDSENST00000602748ENST00000602748CUL1chr7

148484065

+CUL1chr7

148484150

-
intron-3CDSENST00000602748ENST00000325222CUL1chr7

148484065

+CUL1chr7

148484150

-
intron-3CDSENST00000325222ENST00000409469CUL1chr7

148484065

+CUL1chr7

148484150

-
intron-3CDSENST00000325222ENST00000602748CUL1chr7

148484065

+CUL1chr7

148484150

-
intron-3CDSENST00000325222ENST00000325222CUL1chr7

148484065

+CUL1chr7

148484150

-
In-frameENST00000409469ENST00000409469CUL1chr7

148497664

-CUL1chr7

148496416

+
In-frameENST00000409469ENST00000602748CUL1chr7

148497664

-CUL1chr7

148496416

+
In-frameENST00000409469ENST00000325222CUL1chr7

148497664

-CUL1chr7

148496416

+
Frame-shiftENST00000602748ENST00000409469CUL1chr7

148497664

-CUL1chr7

148496416

+
Frame-shiftENST00000602748ENST00000602748CUL1chr7

148497664

-CUL1chr7

148496416

+
Frame-shiftENST00000602748ENST00000325222CUL1chr7

148497664

-CUL1chr7

148496416

+
Frame-shiftENST00000325222ENST00000409469CUL1chr7

148497664

-CUL1chr7

148496416

+
Frame-shiftENST00000325222ENST00000602748CUL1chr7

148497664

-CUL1chr7

148496416

+
Frame-shiftENST00000325222ENST00000325222CUL1chr7

148497664

-CUL1chr7

148496416

+
In-frameENST00000409469ENST00000409469CUL1chr7

148496416

-CUL1chr7

148497664

+
Frame-shiftENST00000409469ENST00000602748CUL1chr7

148496416

-CUL1chr7

148497664

+
Frame-shiftENST00000409469ENST00000325222CUL1chr7

148496416

-CUL1chr7

148497664

+
In-frameENST00000602748ENST00000409469CUL1chr7

148496416

-CUL1chr7

148497664

+
Frame-shiftENST00000602748ENST00000602748CUL1chr7

148496416

-CUL1chr7

148497664

+
Frame-shiftENST00000602748ENST00000325222CUL1chr7

148496416

-CUL1chr7

148497664

+
In-frameENST00000325222ENST00000409469CUL1chr7

148496416

-CUL1chr7

148497664

+
Frame-shiftENST00000325222ENST00000602748CUL1chr7

148496416

-CUL1chr7

148497664

+
Frame-shiftENST00000325222ENST00000325222CUL1chr7

148496416

-CUL1chr7

148497664

+

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 CUL1-CUL1


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)

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.

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Fusion Protein Features for CUL1-CUL1


check button Go to

FGviewer for the breakpoints of chr7:148497664-chr7:148496416

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.CUL1

Q13616

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Core component of multiple cullin-RING-based SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complexes, which mediate the ubiquitination of proteins involved in cell cycle progression, signal transduction and transcription. SCF complexes and ARIH1 collaborate in tandem to mediate ubiquitination of target proteins (PubMed:27565346). In the SCF complex, serves as a rigid scaffold that organizes the SKP1-F-box protein and RBX1 subunits. May contribute to catalysis through positioning of the substrate and the ubiquitin-conjugating enzyme. The E3 ubiquitin-protein ligase activity of the complex is dependent on the neddylation of the cullin subunit and exchange of the substrate recognition component is mediated by TIP120A/CAND1. The functional specificity of the SCF complex depends on the F-box protein as substrate recognition component. SCF(BTRC) and SCF(FBXW11) direct ubiquitination of CTNNB1 and participate in Wnt signaling. SCF(FBXW11) directs ubiquitination of phosphorylated NFKBIA. SCF(BTRC) directs ubiquitination of NFKBIB, NFKBIE, ATF4, SMAD3, SMAD4, CDC25A, FBXO5 and probably NFKB2. SCF(BTRC) and/or SCF(FBXW11) direct ubiquitination of CEP68 (PubMed:25704143, PubMed:25503564). SCF(SKP2) directs ubiquitination of phosphorylated CDKN1B/p27kip and is involved in regulation of G1/S transition. SCF(SKP2) directs ubiquitination of ORC1, CDT1, RBL2, ELF4, CDKN1A, RAG2, FOXO1A, and probably MYC and TAL1. SCF(FBXW7) directs ubiquitination of CCNE1, NOTCH1 released notch intracellular domain (NICD), and probably PSEN1. SCF(FBXW2) directs ubiquitination of GCM1. SCF(FBXO32) directs ubiquitination of MYOD1. SCF(FBXO7) directs ubiquitination of BIRC2 and DLGAP5. SCF(FBXO33) directs ubiquitination of YBX1. SCF(FBXO1) directs ubiquitination of BCL6 and DTL but does not seem to direct ubiquitination of TP53. SCF(BTRC) mediates the ubiquitination of NFKBIA at 'Lys-21' and 'Lys-22'; the degradation frees the associated NFKB1-RELA dimer to translocate into the nucleus and to activate transcription. SCF(CCNF) directs ubiquitination of CCP110. SCF(FBXL3) and SCF(FBXL21) direct ubiquitination of CRY1 and CRY2. SCF(FBXO9) directs ubiquitination of TTI1 and TELO2. SCF(FBXO10) directs ubiquitination of BCL2. {ECO:0000269|PubMed:15531760, ECO:0000269|PubMed:15640526, ECO:0000269|PubMed:18644861, ECO:0000269|PubMed:19679664, ECO:0000269|PubMed:22113614, ECO:0000269|PubMed:22405651, ECO:0000269|PubMed:23263282, ECO:0000269|PubMed:23431138, ECO:0000269|PubMed:25503564, ECO:0000269|PubMed:25704143, ECO:0000269|PubMed:27565346, ECO:0000269|PubMed:9663463}.

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 CUL1-CUL1


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 CUL1-CUL1


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 CUL1-CUL1


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 CUL1-CUL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCUL1C0014518Toxic Epidermal Necrolysis1CTD_human
HgeneCUL1C0038325Stevens-Johnson Syndrome1CTD_human
HgeneCUL1C1274933Drug-Induced Stevens Johnson Syndrome1CTD_human
HgeneCUL1C3658301Mycoplasma-Induced Stevens-Johnson Syndrome1CTD_human
HgeneCUL1C3658302Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum1CTD_human
TgeneCUL1C0014518Toxic Epidermal Necrolysis1CTD_human
TgeneCUL1C0038325Stevens-Johnson Syndrome1CTD_human
TgeneCUL1C1274933Drug-Induced Stevens Johnson Syndrome1CTD_human
TgeneCUL1C3658301Mycoplasma-Induced Stevens-Johnson Syndrome1CTD_human
TgeneCUL1C3658302Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum1CTD_human