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Fusion gene ID: 9919 |
FusionGeneSummary for DHX34_SAE1 |
Fusion gene summary |
Fusion gene information | Fusion gene name: DHX34_SAE1 | Fusion gene ID: 9919 | Hgene | Tgene | Gene symbol | DHX34 | SAE1 | Gene ID | 9704 | 10055 |
Gene name | DExH-box helicase 34 | SUMO1 activating enzyme subunit 1 | |
Synonyms | DDX34|HRH1 | AOS1|HSPC140|SUA1|UBLE1A | |
Cytomap | 19q13.32 | 19q13.32 | |
Type of gene | protein-coding | protein-coding | |
Description | probable ATP-dependent RNA helicase DHX34DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34DEAH (Asp-Glu-Ala-His) box polypeptide 34DEAH box protein 34DEAH-box helicase 34probable ATP-dependent helicase DHX34 | SUMO-activating enzyme subunit 1SUMO-1 activating enzyme E1 N subunitSUMO-1 activating enzyme subunit 1activator of SUMO1sentrin/SUMO-activating protein AOS1ubiquitin-like 1-activating enzyme E1Aubiquitin-like protein SUMO-1 activating enzyme | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q14147 | Q9UBE0 | |
Ensembl transtripts involved in fusion gene | ENST00000328771, ENST00000471451, | ENST00000413379, ENST00000540850, ENST00000598840, ENST00000270225, ENST00000392776, | |
Fusion gene scores | * DoF score | 5 X 5 X 4=100 | 6 X 4 X 7=168 |
# samples | 6 | 7 | |
** MAII score | log2(6/100*10)=-0.736965594166206 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/168*10)=-1.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: DHX34 [Title/Abstract] AND SAE1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Functional or gene categories assigned by FusionGDB annotation |
* 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 |
Tgene | SAE1 | GO:0016925 | protein sumoylation | 15660128|20164921 |
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 | UCEC | TCGA-5B-A90C-01A | DHX34 | chr19 | 47865950 | + | SAE1 | chr19 | 47712416 | + |
* 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 |
Frame-shift | ENST00000328771 | ENST00000413379 | DHX34 | chr19 | 47865950 | + | SAE1 | chr19 | 47712416 | + |
In-frame | ENST00000328771 | ENST00000540850 | DHX34 | chr19 | 47865950 | + | SAE1 | chr19 | 47712416 | + |
Frame-shift | ENST00000328771 | ENST00000598840 | DHX34 | chr19 | 47865950 | + | SAE1 | chr19 | 47712416 | + |
Frame-shift | ENST00000328771 | ENST00000270225 | DHX34 | chr19 | 47865950 | + | SAE1 | chr19 | 47712416 | + |
5CDS-3UTR | ENST00000328771 | ENST00000392776 | DHX34 | chr19 | 47865950 | + | SAE1 | chr19 | 47712416 | + |
intron-3CDS | ENST00000471451 | ENST00000413379 | DHX34 | chr19 | 47865950 | + | SAE1 | chr19 | 47712416 | + |
intron-3CDS | ENST00000471451 | ENST00000540850 | DHX34 | chr19 | 47865950 | + | SAE1 | chr19 | 47712416 | + |
intron-3CDS | ENST00000471451 | ENST00000598840 | DHX34 | chr19 | 47865950 | + | SAE1 | chr19 | 47712416 | + |
intron-3CDS | ENST00000471451 | ENST00000270225 | DHX34 | chr19 | 47865950 | + | SAE1 | chr19 | 47712416 | + |
intron-3UTR | ENST00000471451 | ENST00000392776 | DHX34 | chr19 | 47865950 | + | SAE1 | chr19 | 47712416 | + |
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FusionProtFeatures for DHX34_SAE1 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
DHX34 | SAE1 |
Probable ATP-binding RNA helicase. | The heterodimer acts as an E1 ligase for SUMO1, SUMO2,SUMO3, and probably SUMO4. It mediates ATP-dependent activation ofSUMO proteins followed by formation of a thioester bond between aSUMO protein and a conserved active site cysteine residue onUBA2/SAE2. {ECO:0000269|PubMed:10187858,ECO:0000269|PubMed:10217437, ECO:0000269|PubMed:11451954,ECO:0000269|PubMed:11481243, ECO:0000269|PubMed:15660128,ECO:0000269|PubMed:20164921, ECO:0000269|PubMed:9920803}. |
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 |
- 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 |
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FusionGeneSequence for DHX34_SAE1 |
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_DHX34_ENST00000328771_chr19_47865950_+_SAE1_ENST00000540850_chr19_47712416_+_562aa MPPPRTREGRDRRDHHRAPSEEEALEKWDWNCPETRRLLEDAFFREEDYIRQGSEECQKFWTFFERLQRFQNLKTSRKEEKDPGQPKHSI PALADLPRTYDPRYRINLSVLGPATRGSQGLGRHLPAERVAEFRRALLHYLDFGQKQAFGRLAKLQRERAALPIAQYGNRILQTLKEHQV VVVAGDTGCGKSTQVPQYLLAAGFSHVACTQPRRIACISLAKRVGFESLSQYGSQVGYQIRFESTRSAATKIVFLTVGLLLRQIQREPSL PQYEVLIVDEVHERHLHNDFLLGVLQRLLPTRPDLKVILMSATINISLFSSYFSNAPVVQVPGRLFPITVVYQPQEAEPTTSKSEKLDPR PFLRVLESIDHKYPPEERGDLLVFLSGMAEISAVLEAAQTYASHTQRWVVLPLHSALSVADQDKVFDVAPPGVRKCILSTNIAETSVTID GIRFVVDSGKVKEMSYDPQAKLQRLQEFWISQASAEQRKGRAGRTGPGVCFRLYAESDYDAFAPYPVPEIRRVALDSLVLQALSQRDPPH |
* Fusion transcript sequences (only coding sequence (CDS) region). |
>In-frame_DHX34_ENST00000328771_chr19_47865950_+_SAE1_ENST00000540850_chr19_47712416_+_1686nt ATGCCTCCTCCTAGAACAAGGGAGGGCAGGGATCGCCGAGACCACCACCGGGCTCCCAGCGAGGAAGAGGCCTTGGAGAAATGGGACTGG AATTGTCCAGAGACGCGTCGCCTCTTGGAAGATGCCTTCTTCCGTGAAGAGGATTACATCCGTCAGGGTTCTGAGGAATGTCAGAAGTTT TGGACCTTCTTTGAACGCCTGCAGAGATTCCAGAATCTCAAGACCTCCAGGAAGGAGGAGAAAGACCCTGGACAGCCCAAGCACAGCATC CCAGCGCTGGCCGACCTACCTCGCACTTACGACCCACGTTACCGCATCAACCTCTCTGTTCTTGGCCCTGCCACGCGGGGCTCTCAGGGA CTGGGCAGGCACTTGCCCGCGGAGAGAGTGGCTGAGTTCCGCCGAGCCCTGTTGCACTACCTGGACTTTGGCCAGAAGCAGGCATTTGGG CGTCTGGCCAAGCTGCAGCGTGAGCGGGCAGCCCTCCCCATCGCCCAGTATGGGAACCGCATCCTGCAGACGCTGAAGGAGCACCAGGTG GTGGTAGTGGCCGGTGACACCGGCTGTGGCAAGTCCACTCAGGTGCCCCAGTACCTGCTGGCTGCTGGCTTCAGTCATGTGGCGTGCACC CAGCCCCGGCGGATCGCCTGCATCTCACTGGCCAAGCGTGTGGGCTTTGAGAGCCTCAGTCAGTATGGCTCACAGGTCGGCTACCAGATC CGCTTTGAGAGCACACGTTCGGCGGCCACCAAGATTGTATTCCTGACAGTGGGGCTGCTCCTGCGACAAATCCAGCGGGAACCCAGCCTG CCCCAGTATGAGGTCCTGATTGTGGATGAAGTCCATGAGCGGCATCTCCACAACGATTTCCTCCTGGGCGTCCTCCAGCGCCTGTTGCCC ACGCGGCCTGACCTCAAGGTCATCCTCATGTCGGCCACCATCAACATCTCGCTCTTCTCCAGCTATTTCAGCAATGCCCCTGTGGTACAG GTGCCTGGGAGGCTGTTCCCCATCACGGTTGTGTACCAGCCGCAGGAGGCGGAGCCGACCACGTCCAAGTCAGAGAAGCTGGACCCGCGG CCTTTCCTGAGGGTGCTGGAGTCCATTGACCACAAGTACCCGCCTGAGGAGCGGGGTGACCTCCTCGTCTTCCTCAGCGGCATGGCGGAG ATCAGCGCCGTGCTGGAGGCTGCCCAGACCTATGCCAGCCACACCCAGCGCTGGGTGGTACTGCCACTGCACAGCGCCCTGTCTGTGGCC GACCAGGACAAGGTATTTGATGTGGCACCCCCTGGAGTCCGGAAATGCATCCTCTCCACCAACATTGCTGAGACCTCAGTCACCATTGAC GGGATCCGCTTCGTAGTAGATTCCGGAAAGGTGAAGGAGATGAGCTACGATCCGCAGGCCAAGCTGCAACGGCTGCAGGAGTTCTGGATT AGTCAGGCCAGCGCAGAGCAGCGGAAGGGCCGGGCGGGCCGCACGGGCCCCGGAGTCTGCTTCCGCCTCTATGCCGAATCGGACTATGAT GCCTTCGCCCCCTACCCCGTCCCAGAAATTCGGAGGGTGGCCCTGGACTCGTTGGTGCTGCAGGCCCTGTCTCAGCGGGACCCTCCTCAC |
* Fusion transcript sequences (Full-length transcript). |
>In-frame_DHX34_ENST00000328771_chr19_47865950_+_SAE1_ENST00000540850_chr19_47712416_+_2152nt ACGAGATGGCTGTGTGCGCAGGCGCAAGACTAGCGCTCTTGGGACCGGAAGTTAAGGCGTTCGCGGCGTGTGAATCCAGGGCCTGAAAAC CCAGAATGAACTTGTGTCCATCCCAGAGATCACTGCAGATGTCATGAGGTACCCTTTGTGTCACCAGCTCAAGCAGGCCTCTGGCCACTT TATCATCTGTGGTGGTCCTGTGCCGTGACCAGGAGGAAAAATTAGCTCTTTGAAGAGAAAGTAGTTCTCTATTGCAGGCACTGGCCTCTT AAATTGTTGCAGGTGGGGAATGGATGAGAATATTTGTTTTGGGTGATCAGAACTGAGACTCCTATTGTGGATTAGTAACATGCCTCCTCC TAGAACAAGGGAGGGCAGGGATCGCCGAGACCACCACCGGGCTCCCAGCGAGGAAGAGGCCTTGGAGAAATGGGACTGGAATTGTCCAGA GACGCGTCGCCTCTTGGAAGATGCCTTCTTCCGTGAAGAGGATTACATCCGTCAGGGTTCTGAGGAATGTCAGAAGTTTTGGACCTTCTT TGAACGCCTGCAGAGATTCCAGAATCTCAAGACCTCCAGGAAGGAGGAGAAAGACCCTGGACAGCCCAAGCACAGCATCCCAGCGCTGGC CGACCTACCTCGCACTTACGACCCACGTTACCGCATCAACCTCTCTGTTCTTGGCCCTGCCACGCGGGGCTCTCAGGGACTGGGCAGGCA CTTGCCCGCGGAGAGAGTGGCTGAGTTCCGCCGAGCCCTGTTGCACTACCTGGACTTTGGCCAGAAGCAGGCATTTGGGCGTCTGGCCAA GCTGCAGCGTGAGCGGGCAGCCCTCCCCATCGCCCAGTATGGGAACCGCATCCTGCAGACGCTGAAGGAGCACCAGGTGGTGGTAGTGGC CGGTGACACCGGCTGTGGCAAGTCCACTCAGGTGCCCCAGTACCTGCTGGCTGCTGGCTTCAGTCATGTGGCGTGCACCCAGCCCCGGCG GATCGCCTGCATCTCACTGGCCAAGCGTGTGGGCTTTGAGAGCCTCAGTCAGTATGGCTCACAGGTCGGCTACCAGATCCGCTTTGAGAG CACACGTTCGGCGGCCACCAAGATTGTATTCCTGACAGTGGGGCTGCTCCTGCGACAAATCCAGCGGGAACCCAGCCTGCCCCAGTATGA GGTCCTGATTGTGGATGAAGTCCATGAGCGGCATCTCCACAACGATTTCCTCCTGGGCGTCCTCCAGCGCCTGTTGCCCACGCGGCCTGA CCTCAAGGTCATCCTCATGTCGGCCACCATCAACATCTCGCTCTTCTCCAGCTATTTCAGCAATGCCCCTGTGGTACAGGTGCCTGGGAG GCTGTTCCCCATCACGGTTGTGTACCAGCCGCAGGAGGCGGAGCCGACCACGTCCAAGTCAGAGAAGCTGGACCCGCGGCCTTTCCTGAG GGTGCTGGAGTCCATTGACCACAAGTACCCGCCTGAGGAGCGGGGTGACCTCCTCGTCTTCCTCAGCGGCATGGCGGAGATCAGCGCCGT GCTGGAGGCTGCCCAGACCTATGCCAGCCACACCCAGCGCTGGGTGGTACTGCCACTGCACAGCGCCCTGTCTGTGGCCGACCAGGACAA GGTATTTGATGTGGCACCCCCTGGAGTCCGGAAATGCATCCTCTCCACCAACATTGCTGAGACCTCAGTCACCATTGACGGGATCCGCTT CGTAGTAGATTCCGGAAAGGTGAAGGAGATGAGCTACGATCCGCAGGCCAAGCTGCAACGGCTGCAGGAGTTCTGGATTAGTCAGGCCAG CGCAGAGCAGCGGAAGGGCCGGGCGGGCCGCACGGGCCCCGGAGTCTGCTTCCGCCTCTATGCCGAATCGGACTATGATGCCTTCGCCCC CTACCCCGTCCCAGAAATTCGGAGGGTGGCCCTGGACTCGTTGGTGCTGCAGGCCCTGTCTCAGCGGGACCCTCCTCACAACAACTTCTT CTTCTTCGATGGCATGAAGGGGAATGGGATTGTGGAGTGCCTTGGCCCCAAGTGAACTCAAGATTTGGCAGCCCCAGAGATGCCAACTGC |
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FusionGenePPI for DHX34_SAE1 |
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 |
DHX34 | POLA2, GSK3B, RPS6KA6, TRMT2A, EXOC8, KIF3A, TRIM25 | SAE1 | UBA2, UBE2I, FKBP4, SUMO3, UNC79, CYP1B1, SUMO1, SUMO2, BCL6, ETV4, APP, BAG3, IL3RA, PTK2, AARS, ADSL, DHPS, LPP, PDE12, RANGAP1, CALU, CUL5, DPP9, MCM3, NPLOC4, OSGEP, PANK4, PPP2R5E, TRMT10A, RPRD1B, SRP14, TP53RK, TPD52L2, WDR4, USP39, HSPA1A, HSPA2, FUS, FAF2, ABCE1, FRG1B, PSMB6, UBE2M, TYMS, NTRK1, KRAS, MYC, EWSR1, OFD1, CTSC, GDF15, PQBP1, WAS, DNM1L, SOD1, EDEM3 |
- 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 DHX34_SAE1 |
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 DHX34_SAE1 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |