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Fusion gene ID: 30739 |
FusionGeneSummary for RBM38_DNAJC5B |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RBM38_DNAJC5B | Fusion gene ID: 30739 | Hgene | Tgene | Gene symbol | RBM38 | DNAJC5B | Gene ID | 55544 | 85479 |
| Gene name | RNA binding motif protein 38 | DnaJ heat shock protein family (Hsp40) member C5 beta | |
| Synonyms | HSRNASEB|RNPC1|SEB4B|SEB4D|dJ800J21.2 | CSP-beta | |
| Cytomap | 20q13.31 | 8q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | RNA-binding protein 38CLL-associated antigen KW-5RNA-binding region (RNP1, RRM) containing 1RNA-binding region-containing protein 1ssDNA-binding protein SEB4 | dnaJ 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 date | 20180523 | 20180519 | |
| UniProtAcc | Q9H0Z9 | Q9UF47 | |
| Ensembl transtripts involved in fusion gene | ENST00000356208, ENST00000440234, ENST00000371219, | ENST00000276570, ENST00000519330, | |
| Fusion gene scores | * DoF score | 5 X 1 X 4=20 | 6 X 5 X 4=120 |
| # samples | 5 | 6 | |
| ** MAII score | log2(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 annotation | Tumor 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | RBM38 | GO:0043484 | regulation of RNA splicing | 19285943 |
| 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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | RV | BRCA | TCGA-3C-AALJ-01A | RBM38 | chr20 | 55968389 | + | DNAJC5B | chr8 | 66988895 | + |
| TCGA | LD | BRCA | TCGA-3C-AALJ-01A | RBM38 | chr20 | 55968389 | + | DNAJC5B | chr8 | 66968701 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| In-frame | ENST00000356208 | ENST00000276570 | RBM38 | chr20 | 55968389 | + | DNAJC5B | chr8 | 66988895 | + |
| 5CDS-3UTR | ENST00000356208 | ENST00000519330 | RBM38 | chr20 | 55968389 | + | DNAJC5B | chr8 | 66988895 | + |
| intron-3CDS | ENST00000440234 | ENST00000276570 | RBM38 | chr20 | 55968389 | + | DNAJC5B | chr8 | 66988895 | + |
| intron-3UTR | ENST00000440234 | ENST00000519330 | RBM38 | chr20 | 55968389 | + | DNAJC5B | chr8 | 66988895 | + |
| In-frame | ENST00000371219 | ENST00000276570 | RBM38 | chr20 | 55968389 | + | DNAJC5B | chr8 | 66988895 | + |
| 5CDS-3UTR | ENST00000371219 | ENST00000519330 | RBM38 | chr20 | 55968389 | + | DNAJC5B | chr8 | 66988895 | + |
| 5CDS-intron | ENST00000356208 | ENST00000276570 | RBM38 | chr20 | 55968389 | + | DNAJC5B | chr8 | 66968701 | + |
| 5CDS-3UTR | ENST00000356208 | ENST00000519330 | RBM38 | chr20 | 55968389 | + | DNAJC5B | chr8 | 66968701 | + |
| intron-intron | ENST00000440234 | ENST00000276570 | RBM38 | chr20 | 55968389 | + | DNAJC5B | chr8 | 66968701 | + |
| intron-3UTR | ENST00000440234 | ENST00000519330 | RBM38 | chr20 | 55968389 | + | DNAJC5B | chr8 | 66968701 | + |
| 5CDS-intron | ENST00000371219 | ENST00000276570 | RBM38 | chr20 | 55968389 | + | DNAJC5B | chr8 | 66968701 | + |
| 5CDS-3UTR | ENST00000371219 | ENST00000519330 | RBM38 | chr20 | 55968389 | + | DNAJC5B | chr8 | 66968701 | + |
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FusionProtFeatures for RBM38_DNAJC5B |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RBM38 | DNAJC5B |
| 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}. |
| Retention 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 . * 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. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | RBM38 | chr20:55968389 | chr8:66988895 | ENST00000356208 | + | 3 | 4 | 34_111 | 138 | 240 | Domain | RRM |
| Tgene | >DNAJC5B | chr20:55968389 | chr8:66988895 | ENST00000276570 | + | 2 | 6 | 123_140 | 39 | 200 | Compositional bias | Note=Cys-rich |
| Tgene | >DNAJC5B | chr20:55968389 | chr8:66988895 | ENST00000276570 | + | 2 | 6 | 126_137 | 39 | 200 | Compositional bias | Note=Poly-Cys |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| Hgene | >RBM38 | chr20:55968389 | chr8:66988895 | ENST00000440234 | + | 1 | 3 | 34_111 | -52 | 122 | Domain | RRM |
| Tgene | DNAJC5B | chr20:55968389 | chr8:66988895 | ENST00000276570 | + | 2 | 6 | 19_84 | 39 | 200 | Domain | J |
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FusionGeneSequence for RBM38_DNAJC5B |
| 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 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| RBM38 | RCHY1, MDM2, RBFOX2, RBM24, TMEM184A, CLASRP, PTCD3 | DNAJC5B | TFCP2 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RBM38_DNAJC5B |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for RBM38_DNAJC5B |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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