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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:COG5-CBLL1 (FusionGDB2 ID:18015)

Fusion Gene Summary for COG5-CBLL1

check button Fusion gene summary
Fusion gene informationFusion gene name: COG5-CBLL1
Fusion gene ID: 18015
HgeneTgene
Gene symbol

COG5

CBLL1

Gene ID

10466

79872

Gene namecomponent of oligomeric golgi complex 5Cbl proto-oncogene like 1
SynonymsCDG2I|GOLTC1|GTC90HAKAI|RNF188
Cytomap

7q22.3

7q22.3

Type of geneprotein-codingprotein-coding
Descriptionconserved oligomeric Golgi complex subunit 513S golgi transport complex 1 90 kDa subunitCOG complex subunit 5conserved oligomeric Golgi complex protein 5E3 ubiquitin-protein ligase HakaiCas-Br-M (murine) ecotropic retroviral transforming sequence-like 1Cbl proto-oncogene like 1, E3 ubiquitin protein ligaseCbl proto-oncogene, E3 ubiquitin protein ligase-like 1E-cadherin binding protein E7RING finger p
Modification date2020031320200313
UniProtAcc

Q9UP83

Q75N03

Ensembl transtripts involved in fusion geneENST00000475638, ENST00000297135, 
ENST00000347053, ENST00000393603, 
ENST00000222597, ENST00000415884, 
ENST00000440859, 
Fusion gene scores* DoF score18 X 12 X 10=21602 X 2 X 2=8
# samples 192
** MAII scorelog2(19/2160*10)=-3.50695998871988
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: COG5 [Title/Abstract] AND CBLL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOG5(107052947)-CBLL1(107398588), # samples:2
Anticipated loss of major functional domain due to fusion event.COG5-CBLL1 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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
HgeneCOG5

GO:0048219

inter-Golgi cisterna vesicle-mediated transport

9792665

TgeneCBLL1

GO:0098609

cell-cell adhesion

11836526


check buttonFusion gene breakpoints across COG5 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across CBLL1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4LUADTCGA-38-4631-01ACOG5chr7

107052947

-CBLL1chr7

107398588

+


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Fusion Gene ORF analysis for COG5-CBLL1

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-3CDSENST00000475638ENST00000222597COG5chr7

107052947

-CBLL1chr7

107398588

+
5UTR-3CDSENST00000475638ENST00000415884COG5chr7

107052947

-CBLL1chr7

107398588

+
5UTR-3CDSENST00000475638ENST00000440859COG5chr7

107052947

-CBLL1chr7

107398588

+
Frame-shiftENST00000297135ENST00000222597COG5chr7

107052947

-CBLL1chr7

107398588

+
Frame-shiftENST00000297135ENST00000440859COG5chr7

107052947

-CBLL1chr7

107398588

+
Frame-shiftENST00000347053ENST00000222597COG5chr7

107052947

-CBLL1chr7

107398588

+
Frame-shiftENST00000347053ENST00000440859COG5chr7

107052947

-CBLL1chr7

107398588

+
Frame-shiftENST00000393603ENST00000222597COG5chr7

107052947

-CBLL1chr7

107398588

+
Frame-shiftENST00000393603ENST00000440859COG5chr7

107052947

-CBLL1chr7

107398588

+
In-frameENST00000297135ENST00000415884COG5chr7

107052947

-CBLL1chr7

107398588

+
In-frameENST00000347053ENST00000415884COG5chr7

107052947

-CBLL1chr7

107398588

+
In-frameENST00000393603ENST00000415884COG5chr7

107052947

-CBLL1chr7

107398588

+

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)
ENST00000347053COG5chr7107052947-ENST00000415884CBLL1chr7107398588+124281318818266
ENST00000297135COG5chr7107052947-ENST00000415884CBLL1chr7107398588+171612874921292266
ENST00000393603COG5chr7107052947-ENST00000415884CBLL1chr7107398588+146310342391039266

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
ENST00000347053ENST00000415884COG5chr7107052947-CBLL1chr7107398588+0.0007323120.99926764
ENST00000297135ENST00000415884COG5chr7107052947-CBLL1chr7107398588+0.0025625530.9974375
ENST00000393603ENST00000415884COG5chr7107052947-CBLL1chr7107398588+0.0016564410.9983436

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Fusion Genomic Features for COG5-CBLL1


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)
COG5chr7107052946-CBLL1chr7107398587+3.55E-070.99999964
COG5chr7107052946-CBLL1chr7107398587+3.55E-070.99999964

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.
genomic feature

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 COG5-CBLL1


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/chr7:107052947/chr7:107398588)
- 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
COG5

Q9UP83

CBLL1

Q75N03

FUNCTION: Required for normal Golgi function. {ECO:0000250}.FUNCTION: E3 ubiquitin-protein ligase that mediates ubiquitination of several tyrosine-phosphorylated Src substrates, including CDH1, CTTN and DOK1 (By similarity). Targets CDH1 for endocytosis and degradation (By similarity). Associated component of the WMM complex, a complex that mediates N6-methyladenosine (m6A) methylation of RNAs, a modification that plays a role in the efficiency of mRNA splicing and RNA processing (PubMed:29507755). Its function in the WMM complex is unknown (PubMed:29507755). {ECO:0000250|UniProtKB:Q9JIY2, ECO:0000269|PubMed:29507755}.

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
TgeneCBLL1chr7:107052947chr7:107398588ENST0000044085946207_481146492.0Compositional biasNote=Pro-rich
TgeneCBLL1chr7:107052947chr7:107398588ENST0000044085946148_206146492.0RegionHYB domain
TgeneCBLL1chr7:107052947chr7:107398588ENST0000044085946164_190146492.0Zinc fingerNote=C2H2-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneCBLL1chr7:107052947chr7:107398588ENST0000044085946109_149146492.0Zinc fingerRING-type


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Fusion Gene Sequence for COG5-CBLL1


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.
>18015_18015_1_COG5-CBLL1_COG5_chr7_107052947_ENST00000297135_CBLL1_chr7_107398588_ENST00000415884_length(transcript)=1716nt_BP=1287nt
ATTGGTCCTTTTATGGTTCAGACTTCCTTCTTCATCGACTCTCCCTAATTCTCTTCACTGTTCATCCCCAGCAACTTTTCTTCCCAAGCA
TTTCCTGCGGGCTTTTATTACCCCAGGAGTGCCAATCAAGGCGTGGAACAGATAAAGCTGTGTAGCAACTAACGCGTGACTCTTGTGAGT
GTGGAGGGCAAACGAAGCTCCCTGAAACCTCCGCTCTGCTCTCCTGCCTTACGCCGCGCGGCCCCTGTTCTGAGGTTTAATACTTGCTTC
ACAGATAAGCGCTGCGGCCACGTTCCGGTGCCCACCTTCTCCTTGGCTAGGGCACGACGCCAGCCCAGGGGGCGCGGCCCTGAGCTGCTG
CGAGAGACAGCTGAAAGCGCCGGCCCGACGGCCTTGGCTCCCTCGGTGCGCTGGGCGCAGAGCACTCGGACCCTGGGCGCCCACTGCTCG
AGTACCTGCGCGGCTCCTAGCCAGGCTTAGCCCAGGCGCGGGCTGAGAGTCAGTTCGCCAGGTGGGCCTGGAGCCATGGGCTGGGTGGGC
GGGCGGCGCCGGGATTCTGCGTCACCACCTGGGCGGAGCCGTTCTGCTGCTGACGACATCAACCCGGCACCTGCCAACATGGAAGGTGGC
GGCGGCAGCGTCGCTGTAGCTGGCCTCGGAGCTCGAGGCTCTGGAGCGGCTGCAGCTACAGTCCGGGAACTTCTGCAGGACGGGTGTTAT
AGTGACTTTTTAAACGAAGACTTTGATGTAAAGACTTATACTTCTCAATCTATTCATCAAGCTGTAATTGCTGAACAACTAGCAAAACTT
GCCCAAGGAATCAGTCAGTTGGACAGAGAACTACACTTACAGGTTGTTGCAAGACATGAAGATTTACTGGCACAAGCAACTGGGATTGAG
TCGTTGGAAGGTGTTCTTCAGATGATGCAGACGAGAATTGGGGCTTTACAGGGAGCTGTTGATAGGATAAAAGCAAAAATTGTTGAACCA
TACAATAAGATAGTTGCCCGGACTGCACAACTAGCAAGACTTCAGGTTGCCTGTGATTTGCTTCGGAGGATTATTCGTATCTTGAATCTC
AGTAAGAGACTCCAAGGACAACTGCAAGGGGGAAGTAGAGAGATAACAAAAGCTGCTCAGAGTCTCAATGAACTTGATTATCTTTCTCAA
GGAATAGATCTTTCTGGAATAGAAGTGATAGAAAATGATCTACTTTTTATTGCAAGAGCCCGACTTGAAGTGGAAAATCAAGCTAAGCGC
CTACTAGAGCAGGGTTTGGAGACTCAGCTGTAGTGATCCTGTGCAGCGAATTGAGCAGTGTACACGAGGTTCTCTCTTCATGTGTAGCAT
TGTTCAAGGGTGCAAGAGAACATATTTGTCTCAGAGAGACTTACAGGCTCATATCAACCATCGCCATATGAGAGCTGGAAAACCTGTTAC
CCGTGCTTCACTTGAAAATGTTCATCCTCCTATTGCCCCACCACCAACTGAAATCCCTGAGCGTTTTATAATGCCACCAGACAAGCACCA
TATGAGCCATATTCCGCCAAAGCAGCACATCATGATGCCACCACCTCCTTTGCAACATGTGCCACATGAGCACTATAATCAGCCACATGA
GGATATTCGTGCTCCTCCAGCAGAATTGTCCATGGCTCCACCTCCACCTCGATCGGTCAGTCAGGAAACCTTTCGTATTTCAACAAGAAA

>18015_18015_1_COG5-CBLL1_COG5_chr7_107052947_ENST00000297135_CBLL1_chr7_107398588_ENST00000415884_length(amino acids)=266AA_BP=
MRVSSPGGPGAMGWVGGRRRDSASPPGRSRSAADDINPAPANMEGGGGSVAVAGLGARGSGAAAATVRELLQDGCYSDFLNEDFDVKTYT
SQSIHQAVIAEQLAKLAQGISQLDRELHLQVVARHEDLLAQATGIESLEGVLQMMQTRIGALQGAVDRIKAKIVEPYNKIVARTAQLARL

--------------------------------------------------------------
>18015_18015_2_COG5-CBLL1_COG5_chr7_107052947_ENST00000347053_CBLL1_chr7_107398588_ENST00000415884_length(transcript)=1242nt_BP=813nt
GCTTAGCCCAGGCGCGGGCTGAGAGTCAGTTCGCCAGGTGGGCCTGGAGCCATGGGCTGGGTGGGCGGGCGGCGCCGGGATTCTGCGTCA
CCACCTGGGCGGAGCCGTTCTGCTGCTGACGACATCAACCCGGCACCTGCCAACATGGAAGGTGGCGGCGGCAGCGTCGCTGTAGCTGGC
CTCGGAGCTCGAGGCTCTGGAGCGGCTGCAGCTACAGTCCGGGAACTTCTGCAGGACGGGTGTTATAGTGACTTTTTAAACGAAGACTTT
GATGTAAAGACTTATACTTCTCAATCTATTCATCAAGCTGTAATTGCTGAACAACTAGCAAAACTTGCCCAAGGAATCAGTCAGTTGGAC
AGAGAACTACACTTACAGGTTGTTGCAAGACATGAAGATTTACTGGCACAAGCAACTGGGATTGAGTCGTTGGAAGGTGTTCTTCAGATG
ATGCAGACGAGAATTGGGGCTTTACAGGGAGCTGTTGATAGGATAAAAGCAAAAATTGTTGAACCATACAATAAGATAGTTGCCCGGACT
GCACAACTAGCAAGACTTCAGGTTGCCTGTGATTTGCTTCGGAGGATTATTCGTATCTTGAATCTCAGTAAGAGACTCCAAGGACAACTG
CAAGGGGGAAGTAGAGAGATAACAAAAGCTGCTCAGAGTCTCAATGAACTTGATTATCTTTCTCAAGGAATAGATCTTTCTGGAATAGAA
GTGATAGAAAATGATCTACTTTTTATTGCAAGAGCCCGACTTGAAGTGGAAAATCAAGCTAAGCGCCTACTAGAGCAGGGTTTGGAGACT
CAGCTGTAGTGATCCTGTGCAGCGAATTGAGCAGTGTACACGAGGTTCTCTCTTCATGTGTAGCATTGTTCAAGGGTGCAAGAGAACATA
TTTGTCTCAGAGAGACTTACAGGCTCATATCAACCATCGCCATATGAGAGCTGGAAAACCTGTTACCCGTGCTTCACTTGAAAATGTTCA
TCCTCCTATTGCCCCACCACCAACTGAAATCCCTGAGCGTTTTATAATGCCACCAGACAAGCACCATATGAGCCATATTCCGCCAAAGCA
GCACATCATGATGCCACCACCTCCTTTGCAACATGTGCCACATGAGCACTATAATCAGCCACATGAGGATATTCGTGCTCCTCCAGCAGA

>18015_18015_2_COG5-CBLL1_COG5_chr7_107052947_ENST00000347053_CBLL1_chr7_107398588_ENST00000415884_length(amino acids)=266AA_BP=
MRVSSPGGPGAMGWVGGRRRDSASPPGRSRSAADDINPAPANMEGGGGSVAVAGLGARGSGAAAATVRELLQDGCYSDFLNEDFDVKTYT
SQSIHQAVIAEQLAKLAQGISQLDRELHLQVVARHEDLLAQATGIESLEGVLQMMQTRIGALQGAVDRIKAKIVEPYNKIVARTAQLARL

--------------------------------------------------------------
>18015_18015_3_COG5-CBLL1_COG5_chr7_107052947_ENST00000393603_CBLL1_chr7_107398588_ENST00000415884_length(transcript)=1463nt_BP=1034nt
GGTTTAATACTTGCTTCACAGATAAGCGCTGCGGCCACGTTCCGGTGCCCACCTTCTCCTTGGCTAGGGCACGACGCCAGCCCAGGGGGC
GCGGCCCTGAGCTGCTGCGAGAGACAGCTGAAAGCGCCGGCCCGACGGCCTTGGCTCCCTCGGTGCGCTGGGCGCAGAGCACTCGGACCC
TGGGCGCCCACTGCTCGAGTACCTGCGCGGCTCCTAGCCAGGCTTAGCCCAGGCGCGGGCTGAGAGTCAGTTCGCCAGGTGGGCCTGGAG
CCATGGGCTGGGTGGGCGGGCGGCGCCGGGATTCTGCGTCACCACCTGGGCGGAGCCGTTCTGCTGCTGACGACATCAACCCGGCACCTG
CCAACATGGAAGGTGGCGGCGGCAGCGTCGCTGTAGCTGGCCTCGGAGCTCGAGGCTCTGGAGCGGCTGCAGCTACAGTCCGGGAACTTC
TGCAGGACGGGTGTTATAGTGACTTTTTAAACGAAGACTTTGATGTAAAGACTTATACTTCTCAATCTATTCATCAAGCTGTAATTGCTG
AACAACTAGCAAAACTTGCCCAAGGAATCAGTCAGTTGGACAGAGAACTACACTTACAGGTTGTTGCAAGACATGAAGATTTACTGGCAC
AAGCAACTGGGATTGAGTCGTTGGAAGGTGTTCTTCAGATGATGCAGACGAGAATTGGGGCTTTACAGGGAGCTGTTGATAGGATAAAAG
CAAAAATTGTTGAACCATACAATAAGATAGTTGCCCGGACTGCACAACTAGCAAGACTTCAGGTTGCCTGTGATTTGCTTCGGAGGATTA
TTCGTATCTTGAATCTCAGTAAGAGACTCCAAGGACAACTGCAAGGGGGAAGTAGAGAGATAACAAAAGCTGCTCAGAGTCTCAATGAAC
TTGATTATCTTTCTCAAGGAATAGATCTTTCTGGAATAGAAGTGATAGAAAATGATCTACTTTTTATTGCAAGAGCCCGACTTGAAGTGG
AAAATCAAGCTAAGCGCCTACTAGAGCAGGGTTTGGAGACTCAGCTGTAGTGATCCTGTGCAGCGAATTGAGCAGTGTACACGAGGTTCT
CTCTTCATGTGTAGCATTGTTCAAGGGTGCAAGAGAACATATTTGTCTCAGAGAGACTTACAGGCTCATATCAACCATCGCCATATGAGA
GCTGGAAAACCTGTTACCCGTGCTTCACTTGAAAATGTTCATCCTCCTATTGCCCCACCACCAACTGAAATCCCTGAGCGTTTTATAATG
CCACCAGACAAGCACCATATGAGCCATATTCCGCCAAAGCAGCACATCATGATGCCACCACCTCCTTTGCAACATGTGCCACATGAGCAC
TATAATCAGCCACATGAGGATATTCGTGCTCCTCCAGCAGAATTGTCCATGGCTCCACCTCCACCTCGATCGGTCAGTCAGGAAACCTTT

>18015_18015_3_COG5-CBLL1_COG5_chr7_107052947_ENST00000393603_CBLL1_chr7_107398588_ENST00000415884_length(amino acids)=266AA_BP=
MRVSSPGGPGAMGWVGGRRRDSASPPGRSRSAADDINPAPANMEGGGGSVAVAGLGARGSGAAAATVRELLQDGCYSDFLNEDFDVKTYT
SQSIHQAVIAEQLAKLAQGISQLDRELHLQVVARHEDLLAQATGIESLEGVLQMMQTRIGALQGAVDRIKAKIVEPYNKIVARTAQLARL

--------------------------------------------------------------

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Fusion Gene PPI Analysis for COG5-CBLL1


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 COG5-CBLL1


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 COG5-CBLL1


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