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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:RBM38-DNAJC5B (FusionGDB2 ID:HG55544TG85479)

Fusion Gene Summary for RBM38-DNAJC5B

check button Fusion gene summary
Fusion gene informationFusion gene name: RBM38-DNAJC5B
Fusion gene ID: hg55544tg85479
HgeneTgene
Gene symbol

RBM38

DNAJC5B

Gene ID

55544

85479

Gene nameRNA binding motif protein 38DnaJ heat shock protein family (Hsp40) member C5 beta
SynonymsHSRNASEB|RNPC1|SEB4B|SEB4D|dJ800J21.2CSP-beta
Cytomap('RBM38')('DNAJC5B')

20q13.31

8q13.1

Type of geneprotein-codingprotein-coding
DescriptionRNA-binding protein 38CLL-associated antigen KW-5RNA-binding region (RNP1, RRM) containing 1RNA-binding region-containing protein 1ssDNA-binding protein SEB4dnaJ homolog subfamily C member 5BDnaJ (Hsp40) homolog, subfamily C, member 5 betabeta cysteine string proteinbeta-CSPcysteine string protein betadnaJ homolog subfamily C member Xtesticular tissue protein Li 55
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000356208, ENST00000371219, 
ENST00000440234, 
Fusion gene scores* DoF score11 X 5 X 6=3305 X 4 X 3=60
# samples 105
** MAII scorelog2(10/330*10)=-1.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: RBM38 [Title/Abstract] AND DNAJC5B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointRBM38(55968389)-DNAJC5B(66988895), # samples:2
Anticipated loss of major functional domain due to fusion event.RBM38-DNAJC5B 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.
RBM38-DNAJC5B 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.
RBM38-DNAJC5B 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.
RBM38-DNAJC5B 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
HgeneRBM38

GO:0043484

regulation of RNA splicing

19285943


check buttonFusion gene breakpoints across RBM38 (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 DNAJC5B (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
ChimerDB4BRCATCGA-3C-AALJ-01ARBM38chr20

55968389

+DNAJC5Bchr8

66968701

+
ChimerDB4BRCATCGA-3C-AALJ-01ARBM38chr20

55968389

-DNAJC5Bchr8

66988895

+
ChimerDB4BRCATCGA-3C-AALJ-01ARBM38chr20

55968389

+DNAJC5Bchr8

66988895

+


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Fusion Gene ORF analysis for RBM38-DNAJC5B

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-3UTRENST00000356208ENST00000519330RBM38chr20

55968389

+DNAJC5Bchr8

66968701

+
5CDS-3UTRENST00000356208ENST00000519330RBM38chr20

55968389

+DNAJC5Bchr8

66988895

+
5CDS-3UTRENST00000371219ENST00000519330RBM38chr20

55968389

+DNAJC5Bchr8

66968701

+
5CDS-3UTRENST00000371219ENST00000519330RBM38chr20

55968389

+DNAJC5Bchr8

66988895

+
5CDS-intronENST00000356208ENST00000276570RBM38chr20

55968389

+DNAJC5Bchr8

66968701

+
5CDS-intronENST00000371219ENST00000276570RBM38chr20

55968389

+DNAJC5Bchr8

66968701

+
In-frameENST00000356208ENST00000276570RBM38chr20

55968389

+DNAJC5Bchr8

66988895

+
In-frameENST00000371219ENST00000276570RBM38chr20

55968389

+DNAJC5Bchr8

66988895

+
intron-3CDSENST00000440234ENST00000276570RBM38chr20

55968389

+DNAJC5Bchr8

66988895

+
intron-3UTRENST00000440234ENST00000519330RBM38chr20

55968389

+DNAJC5Bchr8

66968701

+
intron-3UTRENST00000440234ENST00000519330RBM38chr20

55968389

+DNAJC5Bchr8

66988895

+
intron-intronENST00000440234ENST00000276570RBM38chr20

55968389

+DNAJC5Bchr8

66968701

+

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)
ENST00000356208RBM38chr2055968389+ENST00000276570DNAJC5Bchr866988895+1557591791071330
ENST00000371219RBM38chr2055968389+ENST00000276570DNAJC5Bchr866988895+1408442101922273

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
ENST00000356208ENST00000276570RBM38chr2055968389+DNAJC5Bchr866988895+0.0038108740.9961892
ENST00000371219ENST00000276570RBM38chr2055968389+DNAJC5Bchr866988895+0.003629610.99637043

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Fusion Genomic Features for RBM38-DNAJC5B


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)
RBM38chr2055968389+DNAJC5Bchr866968700+0.0015973220.99840266
RBM38chr2055968389+DNAJC5Bchr866988894+5.07E-060.9999949
RBM38chr2055968389+DNAJC5Bchr866968700+0.0015973220.99840266
RBM38chr2055968389+DNAJC5Bchr866988894+5.07E-060.9999949

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 RBM38-DNAJC5B


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/chr20:55968389/chr8:66988895)
- 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
HgeneRBM38chr20:55968389chr8:66988895ENST00000356208+3434_111138240.0DomainRRM
TgeneDNAJC5Bchr20:55968389chr8:66988895ENST0000027657026123_14039200.0Compositional biasNote=Cys-rich
TgeneDNAJC5Bchr20:55968389chr8:66988895ENST0000027657026126_13739200.0Compositional biasNote=Poly-Cys

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneRBM38chr20:55968389chr8:66988895ENST00000440234+1334_1110122.0DomainRRM
TgeneDNAJC5Bchr20:55968389chr8:66988895ENST000002765702619_8439200.0DomainJ


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Fusion Gene Sequence for RBM38-DNAJC5B


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.
>72865_72865_1_RBM38-DNAJC5B_RBM38_chr20_55968389_ENST00000356208_DNAJC5B_chr8_66988895_ENST00000276570_length(transcript)=1557nt_BP=591nt
GCAGCGCCGGTCGGGAGCGCAGCGCGGCGCACGTCGGCGCGCACGGCGGGACGGGCGCCGGAGTGGTCGGGCCTGGCGGCTGGACGGGCG
CCCCTCGCTGCCCCGCGCGCTCCCCGCCGCCCCCCATGAGCGCAGCCCCGCGCGGCCCGGGTCCGTAGGCGGCGGGGCGCCCCCCATGCT
GCTGCAGCCCGCGCCGTGCGCCCCGAGCGCGGGCTTCCCGCGGCCCCTGGCCGCCCCCGGCGCCATGCACGGCTCGCAGAAGGACACCAC
GTTCACCAAGATCTTCGTGGGCGGCCTGCCGTACCACACTACCGACGCCTCGCTCAGGAAGTACTTCGAGGGCTTCGGCGACATCGAGGA
GGCCGTGGTCATCACCGACCGCCAGACGGGCAAGTCCCGCGGCTACGGCTTCGTGACCATGGCCGACCGGGCGGCAGCTGAGAGGGCTTG
CAAAGACCCGAACCCCATCATCGACGGCCGCAAGGCCAACGTGAACCTGGCATATCTGGGCGCCAAGCCGCGGAGCCTCCAGACGGGCTT
TGCCATTGGGGTGCAGCAGCTGCACCCCACCTTGATCCAGCGGACTTACGGAAAATTGGCCCTGAAACACCATCCAGACAAGAATCCAGA
TGATCCAGCTGCTACTGAGAAGTTTAAAGAAATCAACAACGCCCACGCAATACTTACCGACATTTCAAAGAGAAGCATATACGACAAGTA
CGGATCGCTGGGACTCTACGTGGCCGAGCAGTTTGGAGACGAAAACGTTAACACCTACTTCATGCTGTCGAGCTGGTGGGCAAAGGCCCT
GTTTGTCATCGTTGGCCTCTTGACGGGCTGCTACTTTTGCTGCTGCCTGTGCTGCTGCTGCAACTGCTGCTGTGGACACTGCCGGCCCGA
GTCATCAGTGCCAGAAGAGGACTTCTATGTGTCCCCAGAGGATCTGGAGGAGCAGATCAAGTCTGACATGGAAAAAGATGTGGACTTTCC
AGTTTTTCTCCAGCCTACAAATGCAAATGAGAAAACACAGCTAATCAAAGAAGGATCTCGAAGTTATTGCACAGACTCTTGATATTGAGC
CCTCAGAGAGTCCACAGTCCCTCCTCTCAGTTCAGTCTTGTCTCCAGATGGTCGTAGGGGAGCGTGTGGGGCATAAAGTGCTGTGAACTT
TTCCATCTTGTTGTTTTATTTTTGGGTTAGGAAAACATGATTGCTATATAATTTTCTCAGTATGCAGACTTTCTCTCTGAGTAGAATTTC
TTATGAAACACATTCAATTTGGGTGAATAAAGGCCTGAAGAGTTATTTTACCCTCCTTGCCTGATGTAGGACAGTGGAATTGTACAGCCT
TTATGAACCTGCCCTTTATGTGTGGCAGATCTGATTCCTAACTGACCAAAGTAATATTCCAGAACAAAAGCCACTTTTCTTACATTTAAC
ACAATATTCATATCTACCACGAACATGATCATCAAAATATATGAGAACTTATAAAGAGTTTTTGTGTGTGGAGCCTCTTCCGTGTCAATA

>72865_72865_1_RBM38-DNAJC5B_RBM38_chr20_55968389_ENST00000356208_DNAJC5B_chr8_66988895_ENST00000276570_length(amino acids)=330AA_BP=171
MDGRPSLPRALPAAPHERSPARPGSVGGGAPPMLLQPAPCAPSAGFPRPLAAPGAMHGSQKDTTFTKIFVGGLPYHTTDASLRKYFEGFG
DIEEAVVITDRQTGKSRGYGFVTMADRAAAERACKDPNPIIDGRKANVNLAYLGAKPRSLQTGFAIGVQQLHPTLIQRTYGKLALKHHPD
KNPDDPAATEKFKEINNAHAILTDISKRSIYDKYGSLGLYVAEQFGDENVNTYFMLSSWWAKALFVIVGLLTGCYFCCCLCCCCNCCCGH

--------------------------------------------------------------
>72865_72865_2_RBM38-DNAJC5B_RBM38_chr20_55968389_ENST00000371219_DNAJC5B_chr8_66988895_ENST00000276570_length(transcript)=1408nt_BP=442nt
ATAAACATCAGCTTAAGTAAAAACGTCTTGAAGACACTTTCCTGCTTACCTTCCAAGCATAGCGTCGCAAACTCCTTCTCAGAGGAAAGT
CTCGGCCCTCACTGGTGGGCAAGTCCAGGCGGCCCCCCAAGCTCCCTTCGGGGTTCATTTTTGCCCTATCCCCGCAGGGGATTATTTTTG
TCCTTGAAGGCCACATTTCCCAGGCCTTGAACTTTGACGGGAGGAGCTGGAATCCAGGAGGCATCTTTGTGGGAGAGCCCCAGGTGACCA
TGGCCGACCGGGCGGCAGCTGAGAGGGCTTGCAAAGACCCGAACCCCATCATCGACGGCCGCAAGGCCAACGTGAACCTGGCATATCTGG
GCGCCAAGCCGCGGAGCCTCCAGACGGGCTTTGCCATTGGGGTGCAGCAGCTGCACCCCACCTTGATCCAGCGGACTTACGGAAAATTGG
CCCTGAAACACCATCCAGACAAGAATCCAGATGATCCAGCTGCTACTGAGAAGTTTAAAGAAATCAACAACGCCCACGCAATACTTACCG
ACATTTCAAAGAGAAGCATATACGACAAGTACGGATCGCTGGGACTCTACGTGGCCGAGCAGTTTGGAGACGAAAACGTTAACACCTACT
TCATGCTGTCGAGCTGGTGGGCAAAGGCCCTGTTTGTCATCGTTGGCCTCTTGACGGGCTGCTACTTTTGCTGCTGCCTGTGCTGCTGCT
GCAACTGCTGCTGTGGACACTGCCGGCCCGAGTCATCAGTGCCAGAAGAGGACTTCTATGTGTCCCCAGAGGATCTGGAGGAGCAGATCA
AGTCTGACATGGAAAAAGATGTGGACTTTCCAGTTTTTCTCCAGCCTACAAATGCAAATGAGAAAACACAGCTAATCAAAGAAGGATCTC
GAAGTTATTGCACAGACTCTTGATATTGAGCCCTCAGAGAGTCCACAGTCCCTCCTCTCAGTTCAGTCTTGTCTCCAGATGGTCGTAGGG
GAGCGTGTGGGGCATAAAGTGCTGTGAACTTTTCCATCTTGTTGTTTTATTTTTGGGTTAGGAAAACATGATTGCTATATAATTTTCTCA
GTATGCAGACTTTCTCTCTGAGTAGAATTTCTTATGAAACACATTCAATTTGGGTGAATAAAGGCCTGAAGAGTTATTTTACCCTCCTTG
CCTGATGTAGGACAGTGGAATTGTACAGCCTTTATGAACCTGCCCTTTATGTGTGGCAGATCTGATTCCTAACTGACCAAAGTAATATTC
CAGAACAAAAGCCACTTTTCTTACATTTAACACAATATTCATATCTACCACGAACATGATCATCAAAATATATGAGAACTTATAAAGAGT

>72865_72865_2_RBM38-DNAJC5B_RBM38_chr20_55968389_ENST00000371219_DNAJC5B_chr8_66988895_ENST00000276570_length(amino acids)=273AA_BP=114
MVGKSRRPPKLPSGFIFALSPQGIIFVLEGHISQALNFDGRSWNPGGIFVGEPQVTMADRAAAERACKDPNPIIDGRKANVNLAYLGAKP
RSLQTGFAIGVQQLHPTLIQRTYGKLALKHHPDKNPDDPAATEKFKEINNAHAILTDISKRSIYDKYGSLGLYVAEQFGDENVNTYFMLS
SWWAKALFVIVGLLTGCYFCCCLCCCCNCCCGHCRPESSVPEEDFYVSPEDLEEQIKSDMEKDVDFPVFLQPTNANEKTQLIKEGSRSYC

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Fusion Gene PPI Analysis for RBM38-DNAJC5B


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 RBM38-DNAJC5B


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 RBM38-DNAJC5B


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