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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 30739

FusionGeneSummary for RBM38_DNAJC5B

check button Fusion gene summary
Fusion gene informationFusion gene name: RBM38_DNAJC5B
Fusion gene ID: 30739
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

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 date2018052320180519
UniProtAcc

Q9H0Z9

Q9UF47

Ensembl transtripts involved in fusion geneENST00000356208, ENST00000440234, 
ENST00000371219, 
ENST00000276570, 
ENST00000519330, 
Fusion gene scores* DoF score5 X 1 X 4=206 X 5 X 4=120
# samples 56
** MAII scorelog2(5/20*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/120*10)=-1
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]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, in-frame but not retained their domain.
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-3C-AALJ-01ARBM38chr20

55968389

+DNAJC5Bchr8

66988895

+
TCGALDBRCATCGA-3C-AALJ-01ARBM38chr20

55968389

+DNAJC5Bchr8

66968701

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-frameENST00000356208ENST00000276570RBM38chr20

55968389

+DNAJC5Bchr8

66988895

+
5CDS-3UTRENST00000356208ENST00000519330RBM38chr20

55968389

+DNAJC5Bchr8

66988895

+
intron-3CDSENST00000440234ENST00000276570RBM38chr20

55968389

+DNAJC5Bchr8

66988895

+
intron-3UTRENST00000440234ENST00000519330RBM38chr20

55968389

+DNAJC5Bchr8

66988895

+
In-frameENST00000371219ENST00000276570RBM38chr20

55968389

+DNAJC5Bchr8

66988895

+
5CDS-3UTRENST00000371219ENST00000519330RBM38chr20

55968389

+DNAJC5Bchr8

66988895

+
5CDS-intronENST00000356208ENST00000276570RBM38chr20

55968389

+DNAJC5Bchr8

66968701

+
5CDS-3UTRENST00000356208ENST00000519330RBM38chr20

55968389

+DNAJC5Bchr8

66968701

+
intron-intronENST00000440234ENST00000276570RBM38chr20

55968389

+DNAJC5Bchr8

66968701

+
intron-3UTRENST00000440234ENST00000519330RBM38chr20

55968389

+DNAJC5Bchr8

66968701

+
5CDS-intronENST00000371219ENST00000276570RBM38chr20

55968389

+DNAJC5Bchr8

66968701

+
5CDS-3UTRENST00000371219ENST00000519330RBM38chr20

55968389

+DNAJC5Bchr8

66968701

+

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FusionProtFeatures for RBM38_DNAJC5B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
RBM38

Q9H0Z9

DNAJC5B

Q9UF47

RNA-binding protein that specifically bind the 3'-UTR ofCDKN1A transcripts, leading to maintain the stability of CDKN1Atranscripts, thereby acting as a mediator of the p53/TP53 familyto regulate CDKN1A. CDKN1A is a cyclin-dependent kinase inhibitortranscriptionally regulated by the p53/TP53 family to induce cellcycle arrest. Isoform 1, but not isoform 2, has the ability toinduce cell cycle arrest in G1 and maintain the stability ofCDKN1A transcripts induced by p53/TP53. Also acts as a mRNAsplicing factor. Specifically regulates the expression of FGFR2-IIIb, an epithelial cell-specific isoform of FGFR2. Plays a rolein myogenic differentiation. {ECO:0000269|PubMed:17050675,ECO:0000269|PubMed:19285943}.

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_111138240DomainRRM
TgeneDNAJC5Bchr20:55968389chr8:66988895ENST00000276570+26123_14039200Compositional biasNote=Cys-rich
TgeneDNAJC5Bchr20:55968389chr8:66988895ENST00000276570+26126_13739200Compositional 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_111-52122DomainRRM
TgeneDNAJC5Bchr20:55968389chr8:66988895ENST00000276570+2619_8439200DomainJ


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FusionGeneSequence for RBM38_DNAJC5B


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_RBM38_ENST00000356208_chr20_55968389_+_DNAJC5B_ENST00000276570_chr8_66988895_+_299aa
MLLQPAPCAPSAGFPRPLAAPGAMHGSQKDTTFTKIFVGGLPYHTTDASLRKYFEGFGDIEEAVVITDRQTGKSRGYGFVTMADRAAAER
ACKDPNPIIDGRKANVNLAYLGAKPRSLQTGFAIGVQQLHPTLIQRTYGKLALKHHPDKNPDDPAATEKFKEINNAHAILTDISKRSIYD
KYGSLGLYVAEQFGDENVNTYFMLSSWWAKALFVIVGLLTGCYFCCCLCCCCNCCCGHCRPESSVPEEDFYVSPEDLEEQIKSDMEKDVD

>In-frame_RBM38_ENST00000371219_chr20_55968389_+_DNAJC5B_ENST00000276570_chr8_66988895_+_218aa
MADRAAAERACKDPNPIIDGRKANVNLAYLGAKPRSLQTGFAIGVQQLHPTLIQRTYGKLALKHHPDKNPDDPAATEKFKEINNAHAILT
DISKRSIYDKYGSLGLYVAEQFGDENVNTYFMLSSWWAKALFVIVGLLTGCYFCCCLCCCCNCCCGHCRPESSVPEEDFYVSPEDLEEQI


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_RBM38_ENST00000356208_chr20_55968389_+_DNAJC5B_ENST00000276570_chr8_66988895_+_897nt
ATGCTGCTGCAGCCCGCGCCGTGCGCCCCGAGCGCGGGCTTCCCGCGGCCCCTGGCCGCCCCCGGCGCCATGCACGGCTCGCAGAAGGAC
ACCACGTTCACCAAGATCTTCGTGGGCGGCCTGCCGTACCACACTACCGACGCCTCGCTCAGGAAGTACTTCGAGGGCTTCGGCGACATC
GAGGAGGCCGTGGTCATCACCGACCGCCAGACGGGCAAGTCCCGCGGCTACGGCTTCGTGACCATGGCCGACCGGGCGGCAGCTGAGAGG
GCTTGCAAAGACCCGAACCCCATCATCGACGGCCGCAAGGCCAACGTGAACCTGGCATATCTGGGCGCCAAGCCGCGGAGCCTCCAGACG
GGCTTTGCCATTGGGGTGCAGCAGCTGCACCCCACCTTGATCCAGCGGACTTACGGAAAATTGGCCCTGAAACACCATCCAGACAAGAAT
CCAGATGATCCAGCTGCTACTGAGAAGTTTAAAGAAATCAACAACGCCCACGCAATACTTACCGACATTTCAAAGAGAAGCATATACGAC
AAGTACGGATCGCTGGGACTCTACGTGGCCGAGCAGTTTGGAGACGAAAACGTTAACACCTACTTCATGCTGTCGAGCTGGTGGGCAAAG
GCCCTGTTTGTCATCGTTGGCCTCTTGACGGGCTGCTACTTTTGCTGCTGCCTGTGCTGCTGCTGCAACTGCTGCTGTGGACACTGCCGG
CCCGAGTCATCAGTGCCAGAAGAGGACTTCTATGTGTCCCCAGAGGATCTGGAGGAGCAGATCAAGTCTGACATGGAAAAAGATGTGGAC

>In-frame_RBM38_ENST00000371219_chr20_55968389_+_DNAJC5B_ENST00000276570_chr8_66988895_+_654nt
ATGGCCGACCGGGCGGCAGCTGAGAGGGCTTGCAAAGACCCGAACCCCATCATCGACGGCCGCAAGGCCAACGTGAACCTGGCATATCTG
GGCGCCAAGCCGCGGAGCCTCCAGACGGGCTTTGCCATTGGGGTGCAGCAGCTGCACCCCACCTTGATCCAGCGGACTTACGGAAAATTG
GCCCTGAAACACCATCCAGACAAGAATCCAGATGATCCAGCTGCTACTGAGAAGTTTAAAGAAATCAACAACGCCCACGCAATACTTACC
GACATTTCAAAGAGAAGCATATACGACAAGTACGGATCGCTGGGACTCTACGTGGCCGAGCAGTTTGGAGACGAAAACGTTAACACCTAC
TTCATGCTGTCGAGCTGGTGGGCAAAGGCCCTGTTTGTCATCGTTGGCCTCTTGACGGGCTGCTACTTTTGCTGCTGCCTGTGCTGCTGC
TGCAACTGCTGCTGTGGACACTGCCGGCCCGAGTCATCAGTGCCAGAAGAGGACTTCTATGTGTCCCCAGAGGATCTGGAGGAGCAGATC
AAGTCTGACATGGAAAAAGATGTGGACTTTCCAGTTTTTCTCCAGCCTACAAATGCAAATGAGAAAACACAGCTAATCAAAGAAGGATCT


* Fusion transcript sequences (Full-length transcript).
>In-frame_RBM38_ENST00000356208_chr20_55968389_+_DNAJC5B_ENST00000276570_chr8_66988895_+_1557nt
GCAGCGCCGGTCGGGAGCGCAGCGCGGCGCACGTCGGCGCGCACGGCGGGACGGGCGCCGGAGTGGTCGGGCCTGGCGGCTGGACGGGCG
CCCCTCGCTGCCCCGCGCGCTCCCCGCCGCCCCCCATGAGCGCAGCCCCGCGCGGCCCGGGTCCGTAGGCGGCGGGGCGCCCCCCATGCT
GCTGCAGCCCGCGCCGTGCGCCCCGAGCGCGGGCTTCCCGCGGCCCCTGGCCGCCCCCGGCGCCATGCACGGCTCGCAGAAGGACACCAC
GTTCACCAAGATCTTCGTGGGCGGCCTGCCGTACCACACTACCGACGCCTCGCTCAGGAAGTACTTCGAGGGCTTCGGCGACATCGAGGA
GGCCGTGGTCATCACCGACCGCCAGACGGGCAAGTCCCGCGGCTACGGCTTCGTGACCATGGCCGACCGGGCGGCAGCTGAGAGGGCTTG
CAAAGACCCGAACCCCATCATCGACGGCCGCAAGGCCAACGTGAACCTGGCATATCTGGGCGCCAAGCCGCGGAGCCTCCAGACGGGCTT
TGCCATTGGGGTGCAGCAGCTGCACCCCACCTTGATCCAGCGGACTTACGGAAAATTGGCCCTGAAACACCATCCAGACAAGAATCCAGA
TGATCCAGCTGCTACTGAGAAGTTTAAAGAAATCAACAACGCCCACGCAATACTTACCGACATTTCAAAGAGAAGCATATACGACAAGTA
CGGATCGCTGGGACTCTACGTGGCCGAGCAGTTTGGAGACGAAAACGTTAACACCTACTTCATGCTGTCGAGCTGGTGGGCAAAGGCCCT
GTTTGTCATCGTTGGCCTCTTGACGGGCTGCTACTTTTGCTGCTGCCTGTGCTGCTGCTGCAACTGCTGCTGTGGACACTGCCGGCCCGA
GTCATCAGTGCCAGAAGAGGACTTCTATGTGTCCCCAGAGGATCTGGAGGAGCAGATCAAGTCTGACATGGAAAAAGATGTGGACTTTCC
AGTTTTTCTCCAGCCTACAAATGCAAATGAGAAAACACAGCTAATCAAAGAAGGATCTCGAAGTTATTGCACAGACTCTTGATATTGAGC
CCTCAGAGAGTCCACAGTCCCTCCTCTCAGTTCAGTCTTGTCTCCAGATGGTCGTAGGGGAGCGTGTGGGGCATAAAGTGCTGTGAACTT
TTCCATCTTGTTGTTTTATTTTTGGGTTAGGAAAACATGATTGCTATATAATTTTCTCAGTATGCAGACTTTCTCTCTGAGTAGAATTTC
TTATGAAACACATTCAATTTGGGTGAATAAAGGCCTGAAGAGTTATTTTACCCTCCTTGCCTGATGTAGGACAGTGGAATTGTACAGCCT
TTATGAACCTGCCCTTTATGTGTGGCAGATCTGATTCCTAACTGACCAAAGTAATATTCCAGAACAAAAGCCACTTTTCTTACATTTAAC
ACAATATTCATATCTACCACGAACATGATCATCAAAATATATGAGAACTTATAAAGAGTTTTTGTGTGTGGAGCCTCTTCCGTGTCAATA

>In-frame_RBM38_ENST00000371219_chr20_55968389_+_DNAJC5B_ENST00000276570_chr8_66988895_+_1408nt
ATAAACATCAGCTTAAGTAAAAACGTCTTGAAGACACTTTCCTGCTTACCTTCCAAGCATAGCGTCGCAAACTCCTTCTCAGAGGAAAGT
CTCGGCCCTCACTGGTGGGCAAGTCCAGGCGGCCCCCCAAGCTCCCTTCGGGGTTCATTTTTGCCCTATCCCCGCAGGGGATTATTTTTG
TCCTTGAAGGCCACATTTCCCAGGCCTTGAACTTTGACGGGAGGAGCTGGAATCCAGGAGGCATCTTTGTGGGAGAGCCCCAGGTGACCA
TGGCCGACCGGGCGGCAGCTGAGAGGGCTTGCAAAGACCCGAACCCCATCATCGACGGCCGCAAGGCCAACGTGAACCTGGCATATCTGG
GCGCCAAGCCGCGGAGCCTCCAGACGGGCTTTGCCATTGGGGTGCAGCAGCTGCACCCCACCTTGATCCAGCGGACTTACGGAAAATTGG
CCCTGAAACACCATCCAGACAAGAATCCAGATGATCCAGCTGCTACTGAGAAGTTTAAAGAAATCAACAACGCCCACGCAATACTTACCG
ACATTTCAAAGAGAAGCATATACGACAAGTACGGATCGCTGGGACTCTACGTGGCCGAGCAGTTTGGAGACGAAAACGTTAACACCTACT
TCATGCTGTCGAGCTGGTGGGCAAAGGCCCTGTTTGTCATCGTTGGCCTCTTGACGGGCTGCTACTTTTGCTGCTGCCTGTGCTGCTGCT
GCAACTGCTGCTGTGGACACTGCCGGCCCGAGTCATCAGTGCCAGAAGAGGACTTCTATGTGTCCCCAGAGGATCTGGAGGAGCAGATCA
AGTCTGACATGGAAAAAGATGTGGACTTTCCAGTTTTTCTCCAGCCTACAAATGCAAATGAGAAAACACAGCTAATCAAAGAAGGATCTC
GAAGTTATTGCACAGACTCTTGATATTGAGCCCTCAGAGAGTCCACAGTCCCTCCTCTCAGTTCAGTCTTGTCTCCAGATGGTCGTAGGG
GAGCGTGTGGGGCATAAAGTGCTGTGAACTTTTCCATCTTGTTGTTTTATTTTTGGGTTAGGAAAACATGATTGCTATATAATTTTCTCA
GTATGCAGACTTTCTCTCTGAGTAGAATTTCTTATGAAACACATTCAATTTGGGTGAATAAAGGCCTGAAGAGTTATTTTACCCTCCTTG
CCTGATGTAGGACAGTGGAATTGTACAGCCTTTATGAACCTGCCCTTTATGTGTGGCAGATCTGATTCCTAACTGACCAAAGTAATATTC
CAGAACAAAAGCCACTTTTCTTACATTTAACACAATATTCATATCTACCACGAACATGATCATCAAAATATATGAGAACTTATAAAGAGT


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FusionGenePPI 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
RBM38RCHY1, MDM2, RBFOX2, RBM24, TMEM184A, CLASRP, PTCD3DNAJC5BTFCP2


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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RelatedDrugs for RBM38_DNAJC5B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for RBM38_DNAJC5B


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