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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:RAB21-MDM1 (FusionGDB2 ID:71226)

Fusion Gene Summary for RAB21-MDM1

check button Fusion gene summary
Fusion gene informationFusion gene name: RAB21-MDM1
Fusion gene ID: 71226
HgeneTgene
Gene symbol

RAB21

MDM1

Gene ID

23011

56890

Gene nameRAB21, member RAS oncogene familyMdm1 nuclear protein
Synonyms--
Cytomap

12q21.1

12q15

Type of geneprotein-codingprotein-coding
Descriptionras-related protein Rab-21GTP-binding protein RAB21nuclear protein MDM1Mdm4, transformed 3T3 cell double minute 1, p53 binding proteinnuclear protein double minute 1
Modification date2020031320200313
UniProtAcc.

Q8TC05

Ensembl transtripts involved in fusion geneENST00000261263, ENST00000393543, 
ENST00000430606, ENST00000545724, 
ENST00000303145, ENST00000411698, 
ENST00000540418, 
Fusion gene scores* DoF score13 X 6 X 6=4689 X 13 X 4=468
# samples 129
** MAII scorelog2(12/468*10)=-1.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(9/468*10)=-2.37851162325373
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RAB21 [Title/Abstract] AND MDM1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRAB21(72164479)-MDM1(68696652), # samples:3
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
HgeneRAB21

GO:0008089

anterograde axonal transport

22705394

HgeneRAB21

GO:0017157

regulation of exocytosis

22705394


check buttonFusion gene breakpoints across RAB21 (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 MDM1 (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
ChimerDB4BRCATCGA-AN-A0AM-01ARAB21chr12

72164479

-MDM1chr12

68696652

-
ChimerDB4BRCATCGA-AN-A0AM-01ARAB21chr12

72164479

+MDM1chr12

68696652

-


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Fusion Gene ORF analysis for RAB21-MDM1

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-intronENST00000261263ENST00000393543RAB21chr12

72164479

+MDM1chr12

68696652

-
5CDS-intronENST00000261263ENST00000430606RAB21chr12

72164479

+MDM1chr12

68696652

-
5CDS-intronENST00000261263ENST00000545724RAB21chr12

72164479

+MDM1chr12

68696652

-
In-frameENST00000261263ENST00000303145RAB21chr12

72164479

+MDM1chr12

68696652

-
In-frameENST00000261263ENST00000411698RAB21chr12

72164479

+MDM1chr12

68696652

-
In-frameENST00000261263ENST00000540418RAB21chr12

72164479

+MDM1chr12

68696652

-

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)
ENST00000261263RAB21chr1272164479+ENST00000540418MDM1chr1268696652-16955832561008250
ENST00000261263RAB21chr1272164479+ENST00000303145MDM1chr1268696652-16955832561008250
ENST00000261263RAB21chr1272164479+ENST00000411698MDM1chr1268696652-14005832561008250

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
ENST00000261263ENST00000540418RAB21chr1272164479+MDM1chr1268696652-0.0006852060.9993148
ENST00000261263ENST00000303145RAB21chr1272164479+MDM1chr1268696652-0.0006852060.9993148
ENST00000261263ENST00000411698RAB21chr1272164479+MDM1chr1268696652-0.0008287130.99917126

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Fusion Genomic Features for RAB21-MDM1


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

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 RAB21-MDM1


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/chr12:72164479/chr12:68696652)
- 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
.MDM1

Q8TC05

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: Microtubule-binding protein that negatively regulates centriole duplication. Binds to and stabilizes microtubules (PubMed:26337392). {ECO:0000269|PubMed:26337392}.

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
HgeneRAB21chr12:72164479chr12:68696652ENST00000261263+3748_56109226.0MotifEffector region
HgeneRAB21chr12:72164479chr12:68696652ENST00000261263+3726_34109226.0Nucleotide bindingNote=GTP
HgeneRAB21chr12:72164479chr12:68696652ENST00000261263+3774_78109226.0Nucleotide bindingGTP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRAB21chr12:72164479chr12:68696652ENST00000261263+37132_135109226.0Nucleotide bindingNote=GTP
HgeneRAB21chr12:72164479chr12:68696652ENST00000261263+37162_164109226.0Nucleotide bindingNote=GTP


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Fusion Gene Sequence for RAB21-MDM1


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.
>71226_71226_1_RAB21-MDM1_RAB21_chr12_72164479_ENST00000261263_MDM1_chr12_68696652_ENST00000303145_length(transcript)=1695nt_BP=583nt
GAGACGCCATTAGAGGGAGGCAGAGAGGGATCGTTCTTCGCTTTTCCTCCGGTGCCTGACGTGGTGGGCTGGGGCCCTTCATTCTCGGAC
TTTCCCTCAGCCCTTCCAGGCCTCGCCCGAGGAGGGCGTGGGGACAGCGCCCGGGTCGGCGGGGCCGGGGCGGTGGGGGCTGAGCCGGCC
GTGGCTGTGAAGGCGCTGCCGCGGCTGTCGGGAGGGCGGCGCGACACTCGGGCTCGGGCGGCCGGGAAGCGACGGGATGGCTGCGGCCGG
CGGCGGCGGCGGCGGGGCGGCGGCGGCGGGCCGAGCCTACTCGTTCAAGGTGGTGCTGCTGGGGGAAGGCTGCGTGGGGAAGACGTCGCT
GGTGCTGCGCTACTGCGAGAACAAGTTTAACGACAAGCACATCACCACTCTGCAGGCATCATTCTTAACAAAGAAGTTAAATATTGGTGG
GAAAAGAGTAAACCTTGCCATATGGGATACGGCAGGTCAAGAGAGATTCCATGCATTGGGTCCAATTTACTACAGAGATTCAAATGGAGC
GATTTTAGTTTATGACATAACAGATGAAGATTCTTTTCAGAAGAAAGAAAGTCGTGCTGTATCCCTACTGACTTCTCCAGCTGCTGGTAT
AAAAACAGTTGATCCTCTGCCTTTGCGGGAAGATTCTGAAGACAATATCCACAAATTTGCTGAGGCAACTCTTCCAGTTTCAAAAATTCC
AAAATACCCAACAAATCCCCCTGGACAGTTGCCTTCTCCACCACATGTTCCATCCTACTGGCATCCCTCTCGACGAATTCAGGGCTCTCT
TAGAGATCCAGAGTTTCAGCACAATGTGGGAAAAGCAAGGATGAACAATTTGCAGTTACCTCAACATGAAGCCTTTAATGATGAAGATGA
GGACAGATTGTCTGAGATTTCTGCTCGCTCTGCAGCTTCTAGTCTCCGGGCTTTTCAAACTCTGGCACGAGCTAAGAAAAGGAAGGAGAA
TTTCTGGGGTAAAACATAAACCTAGCTGAGTTGCCTTTATCTAAGGAAACATTGGCATAATTTTTCTTTATTGCTTACTGTGTTAAAATT
TTTTGAGTGAAGTTTTTCCTAACGTTTTCTACTTTGAAATATTTAATTTCCAATAGAACAGTTTACTTGGAAATTGTTAACATAGGCTTA
TACAAATTTAACTTTTAAAGAATTCTTTTTACATCTATCCCAGAGTACAAAGACCTAGATTATTGAATTCTTCACATGTAACTTTCGTAA
TAGGTGTCATGGATAGATTTTCACCTATCCAGAGAGTATTCTAAAAAAATAAACAAAGTGAAGTAAAAGTTAAGATCCCAGTGTGAAGTA
TATATTCCCCTAAGATTTGATATATGTATCTTTATAATTGATGATGTTGTAAAATGAATTTGTTGTTCCTTTAACCTTTGCTGTAGTGTT
TCTTTTTATTTTAGTTCCTTCTATACATGTTTGCAGTGTTAAGATAATTGTACTTTGAAAACACCAGCTGTATATATTTTTCTTATTTAT
GTAACAAAGTTTGCTGAAAGATATGTATATTTTTGATCTTTGAGTGTATTCTATTTGTGTAAGGACTTTGGCTTACATTTGAATAATGTC

>71226_71226_1_RAB21-MDM1_RAB21_chr12_72164479_ENST00000261263_MDM1_chr12_68696652_ENST00000303145_length(amino acids)=250AA_BP=109
MAAAGGGGGGAAAAGRAYSFKVVLLGEGCVGKTSLVLRYCENKFNDKHITTLQASFLTKKLNIGGKRVNLAIWDTAGQERFHALGPIYYR
DSNGAILVYDITDEDSFQKKESRAVSLLTSPAAGIKTVDPLPLREDSEDNIHKFAEATLPVSKIPKYPTNPPGQLPSPPHVPSYWHPSRR

--------------------------------------------------------------
>71226_71226_2_RAB21-MDM1_RAB21_chr12_72164479_ENST00000261263_MDM1_chr12_68696652_ENST00000411698_length(transcript)=1400nt_BP=583nt
GAGACGCCATTAGAGGGAGGCAGAGAGGGATCGTTCTTCGCTTTTCCTCCGGTGCCTGACGTGGTGGGCTGGGGCCCTTCATTCTCGGAC
TTTCCCTCAGCCCTTCCAGGCCTCGCCCGAGGAGGGCGTGGGGACAGCGCCCGGGTCGGCGGGGCCGGGGCGGTGGGGGCTGAGCCGGCC
GTGGCTGTGAAGGCGCTGCCGCGGCTGTCGGGAGGGCGGCGCGACACTCGGGCTCGGGCGGCCGGGAAGCGACGGGATGGCTGCGGCCGG
CGGCGGCGGCGGCGGGGCGGCGGCGGCGGGCCGAGCCTACTCGTTCAAGGTGGTGCTGCTGGGGGAAGGCTGCGTGGGGAAGACGTCGCT
GGTGCTGCGCTACTGCGAGAACAAGTTTAACGACAAGCACATCACCACTCTGCAGGCATCATTCTTAACAAAGAAGTTAAATATTGGTGG
GAAAAGAGTAAACCTTGCCATATGGGATACGGCAGGTCAAGAGAGATTCCATGCATTGGGTCCAATTTACTACAGAGATTCAAATGGAGC
GATTTTAGTTTATGACATAACAGATGAAGATTCTTTTCAGAAGAAAGAAAGTCGTGCTGTATCCCTACTGACTTCTCCAGCTGCTGGTAT
AAAAACAGTTGATCCTCTGCCTTTGCGGGAAGATTCTGAAGACAATATCCACAAATTTGCTGAGGCAACTCTTCCAGTTTCAAAAATTCC
AAAATACCCAACAAATCCCCCTGGACAGTTGCCTTCTCCACCACATGTTCCATCCTACTGGCATCCCTCTCGACGAATTCAGGGCTCTCT
TAGAGATCCAGAGTTTCAGCACAATGTGGGAAAAGCAAGGATGAACAATTTGCAGTTACCTCAACATGAAGCCTTTAATGATGAAGATGA
GGACAGATTGTCTGAGATTTCTGCTCGCTCTGCAGCTTCTAGTCTCCGGGCTTTTCAAACTCTGGCACGAGCTAAGAAAAGGAAGGAGAA
TTTCTGGGGTAAAACATAAACCTAGCTGAGTTGCCTTTATCTAAGGAAACATTGGCATAATTTTTCTTTATTGCTTACTGTGTTAAAATT
TTTTGAGTGAAGTTTTTCCTAACGTTTTCTACTTTGAAATATTTAATTTCCAATAGAACAGTTTACTTGGAAATTGTTAACATAGGCTTA
TACAAATTTAACTTTTAAAGAATTCTTTTTACATCTATCCCAGAGTACAAAGACCTAGATTATTGAATTCTTCACATGTAACTTTCGTAA
TAGGTGTCATGGATAGATTTTCACCTATCCAGAGAGTATTCTAAAAAAATAAACAAAGTGAAGTAAAAGTTAAGATCCCAGTGTGAAGTA

>71226_71226_2_RAB21-MDM1_RAB21_chr12_72164479_ENST00000261263_MDM1_chr12_68696652_ENST00000411698_length(amino acids)=250AA_BP=109
MAAAGGGGGGAAAAGRAYSFKVVLLGEGCVGKTSLVLRYCENKFNDKHITTLQASFLTKKLNIGGKRVNLAIWDTAGQERFHALGPIYYR
DSNGAILVYDITDEDSFQKKESRAVSLLTSPAAGIKTVDPLPLREDSEDNIHKFAEATLPVSKIPKYPTNPPGQLPSPPHVPSYWHPSRR

--------------------------------------------------------------
>71226_71226_3_RAB21-MDM1_RAB21_chr12_72164479_ENST00000261263_MDM1_chr12_68696652_ENST00000540418_length(transcript)=1695nt_BP=583nt
GAGACGCCATTAGAGGGAGGCAGAGAGGGATCGTTCTTCGCTTTTCCTCCGGTGCCTGACGTGGTGGGCTGGGGCCCTTCATTCTCGGAC
TTTCCCTCAGCCCTTCCAGGCCTCGCCCGAGGAGGGCGTGGGGACAGCGCCCGGGTCGGCGGGGCCGGGGCGGTGGGGGCTGAGCCGGCC
GTGGCTGTGAAGGCGCTGCCGCGGCTGTCGGGAGGGCGGCGCGACACTCGGGCTCGGGCGGCCGGGAAGCGACGGGATGGCTGCGGCCGG
CGGCGGCGGCGGCGGGGCGGCGGCGGCGGGCCGAGCCTACTCGTTCAAGGTGGTGCTGCTGGGGGAAGGCTGCGTGGGGAAGACGTCGCT
GGTGCTGCGCTACTGCGAGAACAAGTTTAACGACAAGCACATCACCACTCTGCAGGCATCATTCTTAACAAAGAAGTTAAATATTGGTGG
GAAAAGAGTAAACCTTGCCATATGGGATACGGCAGGTCAAGAGAGATTCCATGCATTGGGTCCAATTTACTACAGAGATTCAAATGGAGC
GATTTTAGTTTATGACATAACAGATGAAGATTCTTTTCAGAAGAAAGAAAGTCGTGCTGTATCCCTACTGACTTCTCCAGCTGCTGGTAT
AAAAACAGTTGATCCTCTGCCTTTGCGGGAAGATTCTGAAGACAATATCCACAAATTTGCTGAGGCAACTCTTCCAGTTTCAAAAATTCC
AAAATACCCAACAAATCCCCCTGGACAGTTGCCTTCTCCACCACATGTTCCATCCTACTGGCATCCCTCTCGACGAATTCAGGGCTCTCT
TAGAGATCCAGAGTTTCAGCACAATGTGGGAAAAGCAAGGATGAACAATTTGCAGTTACCTCAACATGAAGCCTTTAATGATGAAGATGA
GGACAGATTGTCTGAGATTTCTGCTCGCTCTGCAGCTTCTAGTCTCCGGGCTTTTCAAACTCTGGCACGAGCTAAGAAAAGGAAGGAGAA
TTTCTGGGGTAAAACATAAACCTAGCTGAGTTGCCTTTATCTAAGGAAACATTGGCATAATTTTTCTTTATTGCTTACTGTGTTAAAATT
TTTTGAGTGAAGTTTTTCCTAACGTTTTCTACTTTGAAATATTTAATTTCCAATAGAACAGTTTACTTGGAAATTGTTAACATAGGCTTA
TACAAATTTAACTTTTAAAGAATTCTTTTTACATCTATCCCAGAGTACAAAGACCTAGATTATTGAATTCTTCACATGTAACTTTCGTAA
TAGGTGTCATGGATAGATTTTCACCTATCCAGAGAGTATTCTAAAAAAATAAACAAAGTGAAGTAAAAGTTAAGATCCCAGTGTGAAGTA
TATATTCCCCTAAGATTTGATATATGTATCTTTATAATTGATGATGTTGTAAAATGAATTTGTTGTTCCTTTAACCTTTGCTGTAGTGTT
TCTTTTTATTTTAGTTCCTTCTATACATGTTTGCAGTGTTAAGATAATTGTACTTTGAAAACACCAGCTGTATATATTTTTCTTATTTAT
GTAACAAAGTTTGCTGAAAGATATGTATATTTTTGATCTTTGAGTGTATTCTATTTGTGTAAGGACTTTGGCTTACATTTGAATAATGTC

>71226_71226_3_RAB21-MDM1_RAB21_chr12_72164479_ENST00000261263_MDM1_chr12_68696652_ENST00000540418_length(amino acids)=250AA_BP=109
MAAAGGGGGGAAAAGRAYSFKVVLLGEGCVGKTSLVLRYCENKFNDKHITTLQASFLTKKLNIGGKRVNLAIWDTAGQERFHALGPIYYR
DSNGAILVYDITDEDSFQKKESRAVSLLTSPAAGIKTVDPLPLREDSEDNIHKFAEATLPVSKIPKYPTNPPGQLPSPPHVPSYWHPSRR

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Fusion Gene PPI Analysis for RAB21-MDM1


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 RAB21-MDM1


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 RAB21-MDM1


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