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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:CDS1-UGT1A8 (FusionGDB2 ID:HG1040TG54576)

Fusion Gene Summary for CDS1-UGT1A8

check button Fusion gene summary
Fusion gene informationFusion gene name: CDS1-UGT1A8
Fusion gene ID: hg1040tg54576
HgeneTgene
Gene symbol

CDS1

UGT1A8

Gene ID

1040

54576

Gene nameCDP-diacylglycerol synthase 1UDP glucuronosyltransferase family 1 member A8
SynonymsCDS 1GNT1|UDPGT|UDPGT 1-8|UGT-1A|UGT-1H|UGT1|UGT1-01|UGT1-08|UGT1.1|UGT1.8|UGT1A|UGT1A1|UGT1A8S|UGT1H|hUG-BR1
Cytomap('CDS1')('UGT1A8')

4q21.23

2q37.1

Type of geneprotein-codingprotein-coding
Descriptionphosphatidate cytidylyltransferase 1CDP-DAG synthase 1CDP-DG synthase 1CDP-DG synthetase 1CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1CDP-diglyceride pyrophosphorylase 1CDP-diglyceride synthase 1CDP-diglyceride synthetase 1CTUDP-glucuronosyltransferase 1-8Bilirubin-specific UDPGT isozyme 1UDP glucuronosyltransferase 1 family, polypeptide A8UDP glycosyltransferase 1 family, polypeptide A8UDP-glucuronosyltransferase 1 family polypeptide A8sUDP-glucuronosyltransferase 1-1U
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000295887, 
Fusion gene scores* DoF score10 X 2 X 2=405 X 1 X 6=30
# samples 36
** MAII scorelog2(3/40*10)=-0.415037499278844
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/30*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CDS1 [Title/Abstract] AND UGT1A8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCDS1(85530678)-UGT1A8(234675680), # samples:2
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
HgeneCDS1

GO:0006661

phosphatidylinositol biosynthetic process

9407135

HgeneCDS1

GO:0016024

CDP-diacylglycerol biosynthetic process

9407135

TgeneUGT1A8

GO:0051552

flavone metabolic process

18052087

TgeneUGT1A8

GO:0052696

flavonoid glucuronidation

20056724

TgeneUGT1A8

GO:0052697

xenobiotic glucuronidation

20056724


check buttonFusion gene breakpoints across CDS1 (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 UGT1A8 (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
* 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
ChimerDB4BLCATCGA-2F-A9KW-01ACDS1chr4

85530678

+UGT1A8chr2

234675680

+


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Fusion Gene ORF analysis for CDS1-UGT1A8

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
In-frameENST00000295887ENST00000305208CDS1chr4

85530678

+UGT1A8chr2

234675680

+

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)
ENST00000295887CDS1chr485530678+ENST00000305208UGT1A8chr2234675680+22437653271502391

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
ENST00000295887ENST00000305208CDS1chr485530678+UGT1A8chr2234675680+0.0014013090.99859864

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Fusion Genomic Features for CDS1-UGT1A8


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)
CDS1chr485530678+UGT1A8chr2234675679+1.00E-040.9999
CDS1chr485530678+UGT1A8chr2234675679+1.00E-040.9999

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 CDS1-UGT1A8


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/chr4:85530678/chr2:234675680)
- 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
HgeneCDS1chr4:85530678chr2:234675680ENST00000295887+31396_116114462.0TransmembraneHelical
TgeneUGT1A8chr4:85530678chr2:234675680ENST0000030520805491_507288534.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCDS1chr4:85530678chr2:234675680ENST00000295887+313149_169114462.0TransmembraneHelical
HgeneCDS1chr4:85530678chr2:234675680ENST00000295887+313183_203114462.0TransmembraneHelical
HgeneCDS1chr4:85530678chr2:234675680ENST00000295887+313230_250114462.0TransmembraneHelical
HgeneCDS1chr4:85530678chr2:234675680ENST00000295887+313279_299114462.0TransmembraneHelical
HgeneCDS1chr4:85530678chr2:234675680ENST00000295887+313357_377114462.0TransmembraneHelical


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Fusion Gene Sequence for CDS1-UGT1A8


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.
>15460_15460_1_CDS1-UGT1A8_CDS1_chr4_85530678_ENST00000295887_UGT1A8_chr2_234675680_ENST00000305208_length(transcript)=2243nt_BP=765nt
GCGGGGCGGGAGGGGCCTGCGCGGCGGCGGGAGCCCAGAGCCGCGCTAAAGCGGGTCAAGCGTCCTCCTTTTCTCCCCGCCCCTTCTCCT
CCTCCTACCTGGGCCTCTGCGTGGAGACGCGCACCTGGCAACCGGAGGCCGCGTCTCCGCCTTCTCTGCTCGCGCCTGGCGCCCGGAGCC
TGCCCGGGACCTCCGCCGGAGCCGCGCTCGCTGCAGGCGGCCTCGAGCGCTCTCTCGTTGATGCCGTTTTGGAGGTGACCGGCGCGGCGG
CCGCTCTATGGTGGGGCCGCGTTAGTGGCTGCGGCTCCGCGGGACTCCAGGGCGCGGCTGCGAGGTGGCGGGGCGCCCCGCCTGCAGAAC
CCTGCTTGCAGCTCAGGTTTCGGGGTGCTTGAGGAGGCCGCCACGGCAGCGCGGGAGCGGAAGATGTTGGAGCTGAGGCACCGGGGAAGC
TGCCCCGGCCCCAGGGAAGCGGTGTCGCCGCCACACCGCGAGGGAGAGGCGGCCGGCGGCGACCACGAAACCGAGAGCACCAGCGACAAA
GAAACAGATATTGATGACAGATATGGAGATTTGGATTCCAGAACAGATTCTGATATTCCGGAAATTCCACCATCCTCAGATAGAACCCCT
GAGATTCTCAAAAAAGCTCTATCTGGTTTATCTTCAAGGTGGAAAAACTGGTGGATACGTGGAATTCTCACTCTAACTATGATCTCGTTG
TTTTTCCTGATCATCTATATGGGATCCTTCATGCTGATGCTTCTTGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTG
GTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTC
CTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCAC
CCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTG
TTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTA
GAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAG
CCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGG
TACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGC
TACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGAAGTGGGTGGGAAATAAGGTAAAATT
TTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAATACTTTGCATAAATT
AATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCC
CTCTGGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAA
CATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCACGGCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTG
CAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTCGTGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGG
AAGCTTTGTACCTTTAGAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGCATATGATTTCTTGCTTTGGGGAAAAAG
AATGATGCTATGAAATTGGTGGGTGGTGTATTTGAGAAGATAATCATTGCTTATGTCAAATGGAGCTGAATTTGATAAAAACCCAAAATA

>15460_15460_1_CDS1-UGT1A8_CDS1_chr4_85530678_ENST00000295887_UGT1A8_chr2_234675680_ENST00000305208_length(amino acids)=391AA_BP=144
MRGGGAPRLQNPACSSGFGVLEEAATAARERKMLELRHRGSCPGPREAVSPPHREGEAAGGDHETESTSDKETDIDDRYGDLDSRTDSDI
PEIPPSSDRTPEILKKALSGLSSRWKNWWIRGILTLTMISLFFLIIYMGSFMLMLLEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAI
ADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKRMETKGAGVT
LNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTV

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

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Fusion Gene PPI Analysis for CDS1-UGT1A8


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 CDS1-UGT1A8


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 CDS1-UGT1A8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCDS1C0007097Carcinoma1CTD_human
HgeneCDS1C0019193Hepatitis, Toxic1CTD_human
HgeneCDS1C0024667Animal Mammary Neoplasms1CTD_human
HgeneCDS1C0024668Mammary Neoplasms, Experimental1CTD_human
HgeneCDS1C0205696Anaplastic carcinoma1CTD_human
HgeneCDS1C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneCDS1C0205698Undifferentiated carcinoma1CTD_human
HgeneCDS1C0205699Carcinomatosis1CTD_human
HgeneCDS1C0860207Drug-Induced Liver Disease1CTD_human
HgeneCDS1C1257925Mammary Carcinoma, Animal1CTD_human
HgeneCDS1C1262760Hepatitis, Drug-Induced1CTD_human
HgeneCDS1C3658290Drug-Induced Acute Liver Injury1CTD_human
HgeneCDS1C4277682Chemical and Drug Induced Liver Injury1CTD_human
HgeneCDS1C4279912Chemically-Induced Liver Toxicity1CTD_human