|
Fusion Gene Summary | |
Fusion Gene ORF analysis | |
Fusion Genomic Features | |
Fusion Protein Features | |
Fusion Gene Sequence | |
Fusion Gene PPI analysis | |
Related Drugs | |
Related Diseases |
Fusion gene:CDK19-HSPBAP1 (FusionGDB2 ID:15259) |
Fusion Gene Summary for CDK19-HSPBAP1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: CDK19-HSPBAP1 | Fusion gene ID: 15259 | Hgene | Tgene | Gene symbol | CDK19 | HSPBAP1 | Gene ID | 23097 | 79663 |
Gene name | cyclin dependent kinase 19 | HSPB1 associated protein 1 | |
Synonyms | CDC2L6|CDK11|bA346C16.3 | PASS1 | |
Cytomap | 6q21 | 3q21.1 | |
Type of gene | protein-coding | protein-coding | |
Description | cyclin-dependent kinase 19CDC2-related protein kinase 6CDK8-like cyclin-dependent kinasecell division cycle 2-like 6 (CDK8-like)cell division cycle 2-like protein kinase 6cell division protein kinase 19cyclin dependent kinase 19 variant 2cyclin-dep | HSPB1-associated protein 127 kDa heat shock protein-associated protein 1HSPB (heat shock 27kDa) associated protein 1protein associating with small stress protein PASS1 | |
Modification date | 20200313 | 20200320 | |
UniProtAcc | Q9BWU1 | Q96EW2 | |
Ensembl transtripts involved in fusion gene | ENST00000368911, ENST00000323817, ENST00000413605, ENST00000497709, | ENST00000383659, ENST00000306103, ENST00000465044, | |
Fusion gene scores | * DoF score | 12 X 10 X 7=840 | 3 X 3 X 3=27 |
# samples | 15 | 3 | |
** MAII score | log2(15/840*10)=-2.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CDK19 [Title/Abstract] AND HSPBAP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CDK19(111067329)-HSPBAP1(122478207), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | CDK19-HSPBAP1 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF. CDK19-HSPBAP1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF. CDK19-HSPBAP1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. CDK19-HSPBAP1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. |
* 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 |
Fusion gene breakpoints across CDK19 (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene breakpoints across HSPBAP1 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | SARC | TCGA-QC-AA9N-01A | CDK19 | chr6 | 111067329 | - | HSPBAP1 | chr3 | 122478207 | - |
Top |
Fusion Gene ORF analysis for CDK19-HSPBAP1 |
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 | ENST00000368911 | ENST00000383659 | CDK19 | chr6 | 111067329 | - | HSPBAP1 | chr3 | 122478207 | - |
In-frame | ENST00000368911 | ENST00000306103 | CDK19 | chr6 | 111067329 | - | HSPBAP1 | chr3 | 122478207 | - |
5CDS-5UTR | ENST00000368911 | ENST00000465044 | CDK19 | chr6 | 111067329 | - | HSPBAP1 | chr3 | 122478207 | - |
Frame-shift | ENST00000323817 | ENST00000383659 | CDK19 | chr6 | 111067329 | - | HSPBAP1 | chr3 | 122478207 | - |
Frame-shift | ENST00000323817 | ENST00000306103 | CDK19 | chr6 | 111067329 | - | HSPBAP1 | chr3 | 122478207 | - |
5CDS-5UTR | ENST00000323817 | ENST00000465044 | CDK19 | chr6 | 111067329 | - | HSPBAP1 | chr3 | 122478207 | - |
intron-3CDS | ENST00000413605 | ENST00000383659 | CDK19 | chr6 | 111067329 | - | HSPBAP1 | chr3 | 122478207 | - |
intron-3CDS | ENST00000413605 | ENST00000306103 | CDK19 | chr6 | 111067329 | - | HSPBAP1 | chr3 | 122478207 | - |
intron-5UTR | ENST00000413605 | ENST00000465044 | CDK19 | chr6 | 111067329 | - | HSPBAP1 | chr3 | 122478207 | - |
intron-3CDS | ENST00000497709 | ENST00000383659 | CDK19 | chr6 | 111067329 | - | HSPBAP1 | chr3 | 122478207 | - |
intron-3CDS | ENST00000497709 | ENST00000306103 | CDK19 | chr6 | 111067329 | - | HSPBAP1 | chr3 | 122478207 | - |
intron-5UTR | ENST00000497709 | ENST00000465044 | CDK19 | chr6 | 111067329 | - | HSPBAP1 | chr3 | 122478207 | - |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000368911 | CDK19 | chr6 | 111067329 | - | ENST00000383659 | HSPBAP1 | chr3 | 122478207 | - | 1847 | 384 | 760 | 1500 | 246 |
ENST00000368911 | CDK19 | chr6 | 111067329 | - | ENST00000306103 | HSPBAP1 | chr3 | 122478207 | - | 1761 | 384 | 180 | 1418 | 412 |
DeepORF 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. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000368911 | ENST00000383659 | CDK19 | chr6 | 111067329 | - | HSPBAP1 | chr3 | 122478207 | - | 0.002684502 | 0.99731547 |
ENST00000368911 | ENST00000306103 | CDK19 | chr6 | 111067329 | - | HSPBAP1 | chr3 | 122478207 | - | 0.000667046 | 0.99933296 |
Top |
Fusion Genomic Features for CDK19-HSPBAP1 |
FusionAI 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. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Distribution 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. |
Distribution 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. |
Top |
Fusion Protein Features for CDK19-HSPBAP1 |
Go to FGviewer for the breakpoints of chr6:111067329-chr3:122478207 - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
CDK19 | HSPBAP1 |
FUNCTION: May play a role in cellular stress response. {ECO:0000250}. |
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 | CDK19 | chr6:111067329 | chr3:122478207 | ENST00000368911 | - | 2 | 13 | 27_35 | 68.0 | 503.0 | Nucleotide binding | ATP |
- 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 | CDK19 | chr6:111067329 | chr3:122478207 | ENST00000323817 | - | 3 | 14 | 372_404 | 8.0 | 443.0 | Compositional bias | Note=Gln-rich |
Hgene | CDK19 | chr6:111067329 | chr3:122478207 | ENST00000323817 | - | 3 | 14 | 461_491 | 8.0 | 443.0 | Compositional bias | Note=Ser-rich |
Hgene | CDK19 | chr6:111067329 | chr3:122478207 | ENST00000368911 | - | 2 | 13 | 372_404 | 68.0 | 503.0 | Compositional bias | Note=Gln-rich |
Hgene | CDK19 | chr6:111067329 | chr3:122478207 | ENST00000368911 | - | 2 | 13 | 461_491 | 68.0 | 503.0 | Compositional bias | Note=Ser-rich |
Hgene | CDK19 | chr6:111067329 | chr3:122478207 | ENST00000323817 | - | 3 | 14 | 21_335 | 8.0 | 443.0 | Domain | Protein kinase |
Hgene | CDK19 | chr6:111067329 | chr3:122478207 | ENST00000368911 | - | 2 | 13 | 21_335 | 68.0 | 503.0 | Domain | Protein kinase |
Hgene | CDK19 | chr6:111067329 | chr3:122478207 | ENST00000323817 | - | 3 | 14 | 27_35 | 8.0 | 443.0 | Nucleotide binding | ATP |
Tgene | HSPBAP1 | chr6:111067329 | chr3:122478207 | ENST00000306103 | 2 | 8 | 124_288 | 144.0 | 489.0 | Domain | JmjC | |
Tgene | HSPBAP1 | chr6:111067329 | chr3:122478207 | ENST00000383659 | 2 | 9 | 124_288 | 144.0 | 410.0 | Domain | JmjC |
Top |
Fusion Gene Sequence for CDK19-HSPBAP1 |
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. |
>In-frame_ENST00000368911_ENST00000383659_TCGA-QC-AA9N-01A_CDK19_chr6_111067329_-_HSPBAP1_chr3_122478207_length(transcript)=1847nt_BP=384nt TGTGGCCGCCGAGGAGTCCCTTGCTGAAGGCGGACCGCGGAGCGGCGGGCGGCGGGCGGCGCGCGCGCGCGCGCGAGAGGCGGCTGTTGG AGAAGTGGAGCGGCGGTCGCGGGGGGAGGAGGAGGAGGGACTGAGCGGCGGCGGCCCCCGCGTCCCGTGCCTCTATGGGGGAAGCAGACA ATGGATTATGATTTCAAGGCGAAGCTGGCGGCGGAGCGGGAGCGGGTGGAGGATTTGTTTGAGTACGAAGGGTGCAAAGTGGGACGCGGC ACCTACGGTCACGTCTACAAGGCGAGGCGGAAAGATGGAAAAGATGAAAAGGAATATGCATTGAAGCAAATTGAAGGCACAGGAATATCC ATGTCGGCTTGTAGAGAGATTGCAGATGTGAAATGGTCTGACTTCGGGTTTCCTGGAAGAAATGGACAGGAAAGTACATTGTGGATTGGC TCCTTGGGAGCCCACACACCCTGTCATCTGGACTCCTATGGTTGTAACTTGGTATTCCAGGTACAAGGAAGGCTGGAGTGCAATGGCATG ATCATAGCTCCTGGACCTCAAGCCATCCTCCTGCCGCAGCCTCTCAAGTATCTAGGACTACAGGAAACGATGGCATCTCTTTCCTCCTGA AGATACTCCTTTCCTTTATCCAACTAGAATCCCTTATGAAGAATCTAGTGTGTTCAGTAAAATCAATGTTGTCAATCCTGATTTAAAGCG TTTTCCTCAGTTCCGGAAAGCTCAAAGACATGCGGTTACACTGAGCCCAGGACAGGTTCTCTTTGTTCCCAGACACTGGTGGCATTACGT AGAATCCATTGATCCTGTCACTGTCAGTATAAACTCATGGATTGAACTGGAAGAGGATCACCTAGCCCGGGTAGAAGAGGCAATCACCCG TATGCTTGTGTGTGCCCTGAAAACTGCAGAGAATCCACAAAATACCAGAGCCTGGTTAAACCCCACTGAGGTTGAGGAAACGTCCCATGC AGTCAACTGTTGCTACTTAAATGCAGCTGTTTCTGCATTTTTTGATCGCTGCAGAACATCTGAGGTAGTAGAAATCCAAGCACTGAGAAC AGATGGAGAGCACATGAAAAAGGAAGAATTAAATGTGTGCAACCACATGGAGGTGGGCCAAACAGGTAGCCAGAACTTGACCACAGGAAC AGACAAACCGGAGGCAGCAAGTCCCTTTGGCCCTGATCTGGTCCCTGTAGCACAGAGGTCCGAAGAACCGCCTTCAGAAAGAGGAGGCAT ATTTGGAAGTGATGGGAAAGACTTTGTGGACAAGGATGGAGAACACTTTGGAAAATTGCATTGTGCCAAGAGACAACAAATAATGAGCAA CAGTGAAAATGCAATTGAGGAACAGATTGCCTCAAATACTACTACGACTCCTCAAACATTCATTTCTACGGATGACTTGCTGGACTGCTT GGTGAATCCACAAGTAACCAGGATAGTGGCACAACTTTTGATACAAGGAAGAAGTTTATGATTCAAGTGGAAGATGACTTTTAAAATAAT ATTTTTTAAATATATATTTTTAAGTAGTATGACTAAAATAAAGATGAACCAGCAAAAGGTCAGTTTGCACATTTGTAAATGTATTTATCC TTACCGAATTACATGTCAGTCTGTTGCCACCTTCTTTCATGCACATTCCTCTTTGGCCAAACTGGCTGCTCTTTGTTTGTAAGCTTTTGT TCCTCTCTCATCCCATACTTTTAGCCTGTGTCAAATGTAAGTCCCAAGTATTTCCAGCAGGAAGTAATGTCTTCCTCAGCCTCAACCAGG >In-frame_ENST00000368911_ENST00000383659_TCGA-QC-AA9N-01A_CDK19_chr6_111067329_-_HSPBAP1_chr3_122478207_length(amino acids)=246AA_start in transcript=760_stop in transcript=1500 MSPGQVLFVPRHWWHYVESIDPVTVSINSWIELEEDHLARVEEAITRMLVCALKTAENPQNTRAWLNPTEVEETSHAVNCCYLNAAVSAF FDRCRTSEVVEIQALRTDGEHMKKEELNVCNHMEVGQTGSQNLTTGTDKPEAASPFGPDLVPVAQRSEEPPSERGGIFGSDGKDFVDKDG -------------------------------------------------------------- >In-frame_ENST00000368911_ENST00000306103_TCGA-QC-AA9N-01A_CDK19_chr6_111067329_-_HSPBAP1_chr3_122478207_length(transcript)=1761nt_BP=384nt TGTGGCCGCCGAGGAGTCCCTTGCTGAAGGCGGACCGCGGAGCGGCGGGCGGCGGGCGGCGCGCGCGCGCGCGCGAGAGGCGGCTGTTGG AGAAGTGGAGCGGCGGTCGCGGGGGGAGGAGGAGGAGGGACTGAGCGGCGGCGGCCCCCGCGTCCCGTGCCTCTATGGGGGAAGCAGACA ATGGATTATGATTTCAAGGCGAAGCTGGCGGCGGAGCGGGAGCGGGTGGAGGATTTGTTTGAGTACGAAGGGTGCAAAGTGGGACGCGGC ACCTACGGTCACGTCTACAAGGCGAGGCGGAAAGATGGAAAAGATGAAAAGGAATATGCATTGAAGCAAATTGAAGGCACAGGAATATCC ATGTCGGCTTGTAGAGAGATTGCAGATGTGAAATGGTCTGACTTCGGGTTTCCTGGAAGAAATGGACAGGAAAGTACATTGTGGATTGGC TCCTTGGGAGCCCACACACCCTGTCATCTGGACTCCTATGGTTGTAACTTGGTATTCCAGGTACAAGGAAGGAAACGATGGCATCTCTTT CCTCCTGAAGATACTCCTTTCCTTTATCCAACTAGAATCCCTTATGAAGAATCTAGTGTGTTCAGTAAAATCAATGTTGTCAATCCTGAT TTAAAGCGTTTTCCTCAGTTCCGGAAAGCTCAAAGACATGCGGTTACACTGAGCCCAGGACAGGTTCTCTTTGTTCCCAGACACTGGTGG CATTACGTAGAATCCATTGATCCTGTCACTGTCAGTATAAACTCATGGATTGAACTGGAAGAGGATCACCTAGCCCGGGTAGAAGAGGCA ATCACCCGTATGCTTGTGTGTGCCCTGAAAACTGCAGAGAATCCACAAAATACCAGAGCCTGGTTAAACCCCACTGAGGTTGAGGAAACG TCCCATGCAGTCAACTGTTGCTACTTAAATGCAGCTGTTTCTGCATTTTTTGATCGCTGCAGAACATCTGAGGTAGTAGAAATCCAAGCA CTGAGAACAGATGGAGAGCACATGAAAAAGGAAGAATTAAATGTGTGCAACCACATGGAGGTGGGCCAAACAGGTAGCCAGAACTTGACC ACAGGAACAGACAAACCGGAGGCAGCAAGTCCCTTTGGCCCTGATCTGGTCCCTGTAGCACAGAGGTCCGAAGAACCGCCTTCAGAAAGA GGAGGCATATTTGGAAGTGATGGGAAAGACTTTGTGGACAAGGATGGAGAACACTTTGGAAAATTGCATTGTGCCAAGAGACAACAAATA ATGAGCAACAGTGAAAATGCAATTGAGGAACAGATTGCCTCAAATACTACTACGACTCCTCAAACATTCATTTCTACGGATGACTTGCTG GACTGCTTGGTGAATCCACAAGTAACCAGGATAGTGGCACAACTTTTGATACAAGGAAGAAGTTTATGATTCAAGTGGAAGATGACTTTT AAAATAATATTTTTTAAATATATATTTTTAAGTAGTATGACTAAAATAAAGATGAACCAGCAAAAGGTCAGTTTGCACATTTGTAAATGT ATTTATCCTTACCGAATTACATGTCAGTCTGTTGCCACCTTCTTTCATGCACATTCCTCTTTGGCCAAACTGGCTGCTCTTTGTTTGTAA GCTTTTGTTCCTCTCTCATCCCATACTTTTAGCCTGTGTCAAATGTAAGTCCCAAGTATTTCCAGCAGGAAGTAATGTCTTCCTCAGCCT >In-frame_ENST00000368911_ENST00000306103_TCGA-QC-AA9N-01A_CDK19_chr6_111067329_-_HSPBAP1_chr3_122478207_length(amino acids)=412AA_start in transcript=180_stop in transcript=1418 MDYDFKAKLAAERERVEDLFEYEGCKVGRGTYGHVYKARRKDGKDEKEYALKQIEGTGISMSACREIADVKWSDFGFPGRNGQESTLWIG SLGAHTPCHLDSYGCNLVFQVQGRKRWHLFPPEDTPFLYPTRIPYEESSVFSKINVVNPDLKRFPQFRKAQRHAVTLSPGQVLFVPRHWW HYVESIDPVTVSINSWIELEEDHLARVEEAITRMLVCALKTAENPQNTRAWLNPTEVEETSHAVNCCYLNAAVSAFFDRCRTSEVVEIQA LRTDGEHMKKEELNVCNHMEVGQTGSQNLTTGTDKPEAASPFGPDLVPVAQRSEEPPSERGGIFGSDGKDFVDKDGEHFGKLHCAKRQQI -------------------------------------------------------------- |
Top |
Fusion Gene PPI Analysis for CDK19-HSPBAP1 |
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 |
- 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 |
Tgene | HSPBAP1 | chr6:111067329 | chr3:122478207 | ENST00000306103 | 2 | 8 | 88_208 | 144.0 | 489.0 | HSPB1 | |
Tgene | HSPBAP1 | chr6:111067329 | chr3:122478207 | ENST00000383659 | 2 | 9 | 88_208 | 144.0 | 410.0 | HSPB1 |
- 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 |
Top |
Related Drugs for CDK19-HSPBAP1 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for CDK19-HSPBAP1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | HSPBAP1 | C1333985 | Hereditary clear cell renal cell carcinoma | 1 | ORPHANET |