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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:ADAR-SUMO3 (FusionGDB2 ID:HG103TG6612)

Fusion Gene Summary for ADAR-SUMO3

check button Fusion gene summary
Fusion gene informationFusion gene name: ADAR-SUMO3
Fusion gene ID: hg103tg6612
HgeneTgene
Gene symbol

ADAR

SUMO3

Gene ID

103

6612

Gene nameadenosine deaminase RNA specificsmall ubiquitin like modifier 3
SynonymsADAR1|AGS6|DRADA|DSH|DSRAD|G1P1|IFI-4|IFI4|K88DSRBP|P136SMT3A|SMT3H1|SUMO-3|Smt3B
Cytomap('ADAR')('SUMO3')

1q21.3

21q22.3

Type of geneprotein-codingprotein-coding
Descriptiondouble-stranded RNA-specific adenosine deaminase136 kDa double-stranded RNA-binding proteinadenosine deaminase acting on RNA 1-AdsRNA adenosine deaminasedsRNA adeonosine deaminaseinterferon-induced protein 4interferon-inducible protein 4small ubiquitin-related modifier 3SMT3 suppressor of mif two 3 homolog 1SMT3 suppressor of mif two 3 homolog 3ubiquitin-like protein SMT3B
Modification date2020032020200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000292205, ENST00000368471, 
ENST00000368474, ENST00000471068, 
Fusion gene scores* DoF score9 X 10 X 7=6306 X 6 X 3=108
# samples 106
** MAII scorelog2(10/630*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ADAR [Title/Abstract] AND SUMO3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointADAR(154600331)-SUMO3(46229033), # samples:1
Anticipated loss of major functional domain due to fusion event.ADAR-SUMO3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ADAR-SUMO3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame 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
HgeneADAR

GO:0006382

adenosine to inosine editing

15858013|19651874|21289159

HgeneADAR

GO:0016553

base conversion or substitution editing

9020165

HgeneADAR

GO:0031054

pre-miRNA processing

23622242

HgeneADAR

GO:0035280

miRNA loading onto RISC involved in gene silencing by miRNA

23622242

HgeneADAR

GO:0035455

response to interferon-alpha

16475990

HgeneADAR

GO:0044387

negative regulation of protein kinase activity by regulation of protein phosphorylation

19651874

HgeneADAR

GO:0045070

positive regulation of viral genome replication

19651874

TgeneSUMO3

GO:0016925

protein sumoylation

11889051|16626738|17696781|21965678|24105744

TgeneSUMO3

GO:0043392

negative regulation of DNA binding

16626738


check buttonFusion gene breakpoints across ADAR (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 SUMO3 (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
ChimerDB4SARCTCGA-3B-A9HO-01AADARchr1

154600331

-SUMO3chr21

46229033

-


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Fusion Gene ORF analysis for ADAR-SUMO3

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
5CDS-5UTRENST00000292205ENST00000397893ADARchr1

154600331

-SUMO3chr21

46229033

-
5CDS-5UTRENST00000292205ENST00000411651ADARchr1

154600331

-SUMO3chr21

46229033

-
5CDS-5UTRENST00000292205ENST00000479153ADARchr1

154600331

-SUMO3chr21

46229033

-
5UTR-3CDSENST00000368471ENST00000332859ADARchr1

154600331

-SUMO3chr21

46229033

-
5UTR-3CDSENST00000368471ENST00000397898ADARchr1

154600331

-SUMO3chr21

46229033

-
5UTR-5UTRENST00000368471ENST00000397893ADARchr1

154600331

-SUMO3chr21

46229033

-
5UTR-5UTRENST00000368471ENST00000411651ADARchr1

154600331

-SUMO3chr21

46229033

-
5UTR-5UTRENST00000368471ENST00000479153ADARchr1

154600331

-SUMO3chr21

46229033

-
In-frameENST00000292205ENST00000332859ADARchr1

154600331

-SUMO3chr21

46229033

-
In-frameENST00000292205ENST00000397898ADARchr1

154600331

-SUMO3chr21

46229033

-
intron-3CDSENST00000368474ENST00000332859ADARchr1

154600331

-SUMO3chr21

46229033

-
intron-3CDSENST00000368474ENST00000397898ADARchr1

154600331

-SUMO3chr21

46229033

-
intron-3CDSENST00000471068ENST00000332859ADARchr1

154600331

-SUMO3chr21

46229033

-
intron-3CDSENST00000471068ENST00000397898ADARchr1

154600331

-SUMO3chr21

46229033

-
intron-5UTRENST00000368474ENST00000397893ADARchr1

154600331

-SUMO3chr21

46229033

-
intron-5UTRENST00000368474ENST00000411651ADARchr1

154600331

-SUMO3chr21

46229033

-
intron-5UTRENST00000368474ENST00000479153ADARchr1

154600331

-SUMO3chr21

46229033

-
intron-5UTRENST00000471068ENST00000397893ADARchr1

154600331

-SUMO3chr21

46229033

-
intron-5UTRENST00000471068ENST00000411651ADARchr1

154600331

-SUMO3chr21

46229033

-
intron-5UTRENST00000471068ENST00000479153ADARchr1

154600331

-SUMO3chr21

46229033

-

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)
ENST00000292205ADARchr1154600331-ENST00000397898SUMO3chr2146229033-16901440401133
ENST00000292205ADARchr1154600331-ENST00000332859SUMO3chr2146229033-16401441233874119

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
ENST00000292205ENST00000397898ADARchr1154600331-SUMO3chr2146229033-0.702569840.29743022
ENST00000292205ENST00000332859ADARchr1154600331-SUMO3chr2146229033-0.254301850.7456981

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Fusion Genomic Features for ADAR-SUMO3


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.
genomic feature

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Fusion Protein Features for ADAR-SUMO3


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/chr1:154600331/chr21:46229033)
- 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
HgeneADARchr1:154600331chr21:46229033ENST00000368471-115133_1990932.0DomainZ-binding 1
HgeneADARchr1:154600331chr21:46229033ENST00000368471-115293_3570932.0DomainZ-binding 2
HgeneADARchr1:154600331chr21:46229033ENST00000368471-115503_5710932.0DomainDRBM 1
HgeneADARchr1:154600331chr21:46229033ENST00000368471-115614_6820932.0DomainDRBM 2
HgeneADARchr1:154600331chr21:46229033ENST00000368471-115726_7940932.0DomainDRBM 3
HgeneADARchr1:154600331chr21:46229033ENST00000368471-115886_12210932.0DomainA to I editase
HgeneADARchr1:154600331chr21:46229033ENST00000368474-115133_19901227.0DomainZ-binding 1
HgeneADARchr1:154600331chr21:46229033ENST00000368474-115293_35701227.0DomainZ-binding 2
HgeneADARchr1:154600331chr21:46229033ENST00000368474-115503_57101227.0DomainDRBM 1
HgeneADARchr1:154600331chr21:46229033ENST00000368474-115614_68201227.0DomainDRBM 2
HgeneADARchr1:154600331chr21:46229033ENST00000368474-115726_79401227.0DomainDRBM 3
HgeneADARchr1:154600331chr21:46229033ENST00000368474-115886_122101227.0DomainA to I editase
HgeneADARchr1:154600331chr21:46229033ENST00000368471-115716_7250932.0RegionN-terminal extension of DRBM 3 and constituent of a bi-partite nuclear localization signal
HgeneADARchr1:154600331chr21:46229033ENST00000368471-115795_8010932.0RegionC-terminal extension of DRBM 3 and constituent of a bi-partite nuclear localization signal
HgeneADARchr1:154600331chr21:46229033ENST00000368474-115716_72501227.0RegionN-terminal extension of DRBM 3 and constituent of a bi-partite nuclear localization signal
HgeneADARchr1:154600331chr21:46229033ENST00000368474-115795_80101227.0RegionC-terminal extension of DRBM 3 and constituent of a bi-partite nuclear localization signal
TgeneSUMO3chr1:154600331chr21:46229033ENST000003328591415_9250104.0DomainUbiquitin-like


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Fusion Gene Sequence for ADAR-SUMO3


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.
>2181_2181_1_ADAR-SUMO3_ADAR_chr1_154600331_ENST00000292205_SUMO3_chr21_46229033_ENST00000332859_length(transcript)=1640nt_BP=144nt
ATGATGTCACCAATCTGCGACCAGACCATTGATTCCCGACTGAAGGTAGAGAAGGCTACGTGGTGGGGGAGGGTGGGGGGAGGGTCGCGG
CCGCACTGGCAGTCTCCGGGTGTCCGGCCGTGTCCCGAGGAAGTGCAAGACCCGGGCTTGTCAATGAGGCAGATCAGATTCAGGTTCGAC
GGGCAGCCAATCAATGAAACTGACACTCCAGCACAGCTGGAGATGGAGGACGAGGACACCATCGACGTGTTCCAGCAGCAGACGGGAGGT
GTGCCGGAGAGCAGCCTGGCAGGGCACAGTTTCTAGAGGGCCCGTCCCCAGCCCGGGCCGTCCATCCTCGCATTGCTGTTGAATGGTGAG
CACGTGACCATGCCGACCACAAAGGTGTCTGCGGAAACTCGAGGACATTCACCACGATGATTTTCCTCTCTTTGATGTACTTCAAGTGCA
ACTCAAAACTATATCTGCAGGGATGAATCTGTAACTTAAATTGGGCCAATCAGAATTGTTATCTTTGTTCAGGTAAAATGAGTTGCAAGA
TATTGTGGGTACTTTTGTGTGCTCATTTGTGTTTTCCCCCCCTCCTACAACATTTTTTTAACCCCAAAATTATAGCCTGAATGTTCGCTT
TTAGTCTGGCCAGGGATCTGACTCCTGAGTTGGTTGCCTCTCCCCTGCTCACTCCAGTCACATAGAGAATTGGTGTTTCCCGCAGTGGGG
ATGCAGCTGTTGGACAGGTATTGGGGGCAAGGTTGGTAGGGAGGACAGACTGTCACTTGCTGTTACAGGCACAGGTGATTAAAATGCTAA
ATATTGCAAATTTAAGCTTTGTCAGTATATGGAAAAGTTGAAGGGAAAATACTGGAATGCTTCTTCAAAGGTTAAAAAATAACCGAGTCT
TTTGGTAATTTGACCCCACGTGCTCTCTGGCCCTCAAGCATGTAACCTCGGGGTCTGAGGCCCAGGACCCACCCCCCTGCCACCCCTCCC
ACCCCACTCCCTGCTCAGTACCTGGCGTTGGTACACAGGCAAGGATTGGCACAACCAAAATTGGCCTTTTTCTCCCTCTTAATATTGAAG
AAATTCCCACATTTCTCATTTGGTAATGGTGTTGTGGCCTCAGATTTCTTCTAGTATTTGCTTCTGATGAATGATTATGGTCTATACATA
AAAAAGTAAGACTAAGTATTGCTGAATTTGCAGTTATGTTGTCGTGTATAAGAGCTACTTCCAAGTGTGGTTACAAATGAACCCATGGAA
TGATGACTTCATGTTCTTCTCGTGGGTTTGTGCCGTGCTGCTTTCCAAATAGGTATTGAATTTATGCATTAGTCTGGTGATTTCAGTTCT
GTGAAATATTTTGGGATCTATACCAATTAAACATTTTCATAGTTCTGCCTATTGTCCTTCCCTGAGGCTCCATTGCTGCTTGGTGGCCAT
TCTCTGCCTTTTTACAGTCACCTGAACAATGACCCATCATCTCTTGCTTGCTTGAAATCTTGCTGAAATGTTCTCATTTCCTGTTTGCTG
TATGGGCTCGGGTGGGATGTTTGTTGGCTCTGTTGTGTTTATTCACCAATTTGTACATTATTTGTTGTCCTTTACTACTGTAAACAGTAA

>2181_2181_1_ADAR-SUMO3_ADAR_chr1_154600331_ENST00000292205_SUMO3_chr21_46229033_ENST00000332859_length(amino acids)=119AA_BP=
MEVALIHDNITANSAILSLTFLCIDHNHSSEANTRRNLRPQHHYQMRNVGISSILRGRKRPILVVPILACVPTPGTEQGVGWEGWQGGGS

--------------------------------------------------------------
>2181_2181_2_ADAR-SUMO3_ADAR_chr1_154600331_ENST00000292205_SUMO3_chr21_46229033_ENST00000397898_length(transcript)=1690nt_BP=144nt
ATGATGTCACCAATCTGCGACCAGACCATTGATTCCCGACTGAAGGTAGAGAAGGCTACGTGGTGGGGGAGGGTGGGGGGAGGGTCGCGG
CCGCACTGGCAGTCTCCGGGTGTCCGGCCGTGTCCCGAGGAAGTGCAAGACCCGGGCTTGTCAATGAGGCAGATCAGATTCAGGTTCGAC
GGGCAGCCAATCAATGAAACTGACACTCCAGCACAGGTACGGAGCTGGCTTCGCGTGGTTCCAGGGCGACTTCCGATTTGTGCGGGCTGG
AGATGGAGGACGAGGACACCATCGACGTGTTCCAGCAGCAGACGGGAGGTGTGCCGGAGAGCAGCCTGGCAGGGCACAGTTTCTAGAGGG
CCCGTCCCCAGCCCGGGCCGTCCATCCTCGCATTGCTGTTGAATGGTGAGCACGTGACCATGCCGACCACAAAGGTGTCTGCGGAAACTC
GAGGACATTCACCACGATGATTTTCCTCTCTTTGATGTACTTCAAGTGCAACTCAAAACTATATCTGCAGGGATGAATCTGTAACTTAAA
TTGGGCCAATCAGAATTGTTATCTTTGTTCAGGTAAAATGAGTTGCAAGATATTGTGGGTACTTTTGTGTGCTCATTTGTGTTTTCCCCC
CCTCCTACAACATTTTTTTAACCCCAAAATTATAGCCTGAATGTTCGCTTTTAGTCTGGCCAGGGATCTGACTCCTGAGTTGGTTGCCTC
TCCCCTGCTCACTCCAGTCACATAGAGAATTGGTGTTTCCCGCAGTGGGGATGCAGCTGTTGGACAGGTATTGGGGGCAAGGTTGGTAGG
GAGGACAGACTGTCACTTGCTGTTACAGGCACAGGTGATTAAAATGCTAAATATTGCAAATTTAAGCTTTGTCAGTATATGGAAAAGTTG
AAGGGAAAATACTGGAATGCTTCTTCAAAGGTTAAAAAATAACCGAGTCTTTTGGTAATTTGACCCCACGTGCTCTCTGGCCCTCAAGCA
TGTAACCTCGGGGTCTGAGGCCCAGGACCCACCCCCCTGCCACCCCTCCCACCCCACTCCCTGCTCAGTACCTGGCGTTGGTACACAGGC
AAGGATTGGCACAACCAAAATTGGCCTTTTTCTCCCTCTTAATATTGAAGAAATTCCCACATTTCTCATTTGGTAATGGTGTTGTGGCCT
CAGATTTCTTCTAGTATTTGCTTCTGATGAATGATTATGGTCTATACATAAAAAAGTAAGACTAAGTATTGCTGAATTTGCAGTTATGTT
GTCGTGTATAAGAGCTACTTCCAAGTGTGGTTACAAATGAACCCATGGAATGATGACTTCATGTTCTTCTCGTGGGTTTGTGCCGTGCTG
CTTTCCAAATAGGTATTGAATTTATGCATTAGTCTGGTGATTTCAGTTCTGTGAAATATTTTGGGATCTATACCAATTAAACATTTTCAT
AGTTCTGCCTATTGTCCTTCCCTGAGGCTCCATTGCTGCTTGGTGGCCATTCTCTGCCTTTTTACAGTCACCTGAACAATGACCCATCAT
CTCTTGCTTGCTTGAAATCTTGCTGAAATGTTCTCATTTCCTGTTTGCTGTATGGGCTCGGGTGGGATGTTTGTTGGCTCTGTTGTGTTT

>2181_2181_2_ADAR-SUMO3_ADAR_chr1_154600331_ENST00000292205_SUMO3_chr21_46229033_ENST00000397898_length(amino acids)=133AA_BP=48
MMSPICDQTIDSRLKVEKATWWGRVGGGSRPHWQSPGVRPCPEEVQDPGLSMRQIRFRFDGQPINETDTPAQVRSWLRVVPGRLPICAGW

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

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Fusion Gene PPI Analysis for ADAR-SUMO3


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
HgeneADARchr1:154600331chr21:46229033ENST00000368471-115133_2020932.0Z-DNA
HgeneADARchr1:154600331chr21:46229033ENST00000368474-115133_20201227.0Z-DNA


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 ADAR-SUMO3


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 ADAR-SUMO3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADARC3539013AICARDI-GOUTIERES SYNDROME 66GENOMICS_ENGLAND;UNIPROT
HgeneADARC0406775Symmetrical dyschromatosis of extremities5CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneADARC0013421Dystonia3GENOMICS_ENGLAND
HgeneADARC0006142Malignant neoplasm of breast1CTD_human;UNIPROT
HgeneADARC0393591AICARDI-GOUTIERES SYNDROME1CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneADARC0678222Breast Carcinoma1CTD_human
HgeneADARC0795996STRIATONIGRAL DEGENERATION, INFANTILE (disorder)1ORPHANET
HgeneADARC0796126AICARDI-GOUTIERES SYNDROME 11CTD_human
HgeneADARC1257931Mammary Neoplasms, Human1CTD_human
HgeneADARC1458155Mammary Neoplasms1CTD_human
HgeneADARC3489724Aicardi-Goutieres Syndrome 21CTD_human
HgeneADARC3489725Pseudo-TORCH syndrome1CTD_human
HgeneADARC3860213Autoinflammatory disorder1GENOMICS_ENGLAND
HgeneADARC4704874Mammary Carcinoma, Human1CTD_human