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Fusion gene ID: 2885 |
FusionGeneSummary for ASAH1_DDX21 |
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Fusion gene information | Fusion gene name: ASAH1_DDX21 | Fusion gene ID: 2885 | Hgene | Tgene | Gene symbol | ASAH1 | DDX21 | Gene ID | 427 | 54606 |
Gene name | N-acylsphingosine amidohydrolase 1 | DEAD-box helicase 56 | |
Synonyms | AC|ACDase|ASAH|PHP|PHP32|SMAPME | DDX21|DDX26|NOH61 | |
Cytomap | 8p22 | 7p13 | |
Type of gene | protein-coding | protein-coding | |
Description | acid ceramidaseN-acylsphingosine amidohydrolase (acid ceramidase) 1acid CDaseacylsphingosine deacylaseputative 32 kDa heart protein | probable ATP-dependent RNA helicase DDX5661-kd nucleolar helicaseATP-dependent 61 kDa nucleolar RNA helicaseDEAD (Asp-Glu-Ala-Asp) box helicase 56DEAD (Asp-Glu-Ala-Asp) box polypeptide 56DEAD box protein 21DEAD box protein 56DEAD-box RNA helicasen | |
Modification date | 20180529 | 20180522 | |
UniProtAcc | Q13510 | Q9NR30 | |
Ensembl transtripts involved in fusion gene | ENST00000262097, ENST00000381733, ENST00000417108, ENST00000520781, ENST00000314146, ENST00000520051, | ENST00000354185, | |
Fusion gene scores | * DoF score | 6 X 7 X 3=126 | 33 X 8 X 14=3696 |
# samples | 7 | 37 | |
** MAII score | log2(7/126*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(37/3696*10)=-3.32036758089975 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ASAH1 [Title/Abstract] AND DDX21 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 | PRAD | TCGA-HC-7210-01A | ASAH1 | chr8 | 17913961 | - | DDX21 | chr10 | 70723858 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 |
intron-intron | ENST00000262097 | ENST00000354185 | ASAH1 | chr8 | 17913961 | - | DDX21 | chr10 | 70723858 | + |
intron-intron | ENST00000381733 | ENST00000354185 | ASAH1 | chr8 | 17913961 | - | DDX21 | chr10 | 70723858 | + |
5CDS-intron | ENST00000417108 | ENST00000354185 | ASAH1 | chr8 | 17913961 | - | DDX21 | chr10 | 70723858 | + |
5CDS-intron | ENST00000520781 | ENST00000354185 | ASAH1 | chr8 | 17913961 | - | DDX21 | chr10 | 70723858 | + |
intron-intron | ENST00000314146 | ENST00000354185 | ASAH1 | chr8 | 17913961 | - | DDX21 | chr10 | 70723858 | + |
intron-intron | ENST00000520051 | ENST00000354185 | ASAH1 | chr8 | 17913961 | - | DDX21 | chr10 | 70723858 | + |
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FusionProtFeatures for ASAH1_DDX21 |
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Hgene | Tgene |
ASAH1 | DDX21 |
Hydrolyzes the sphingolipid ceramide into sphingosineand free fatty acid. {ECO:0000269|PubMed:7744740}. | RNA helicase that acts as a sensor of thetranscriptional status of both RNA polymerase (Pol) I and II:promotes ribosomal RNA (rRNA) processing and transcription frompolymerase II (Pol II) (PubMed:25470060). Binds various RNAs, suchas rRNAs, snoRNAs, 7SK and, at lower extent, mRNAs(PubMed:25470060). In the nucleolus, localizes to rDNA locus,where it directly binds rRNAs and snoRNAs, and promotes rRNAtranscription, processing and modification. Required for rRNA 2'-O-methylation, possibly by promoting the recruitment of late-acting snoRNAs SNORD56 and SNORD58 with pre-ribosomal complexes(PubMed:25470060, PubMed:25477391). In the nucleoplasm, binds 7SKRNA and is recruited to the promoters of Pol II-transcribed genes:acts by facilitating the release of P-TEFb from inhibitory 7SKsnRNP in a manner that is dependent on its helicase activity,thereby promoting transcription of its target genes(PubMed:25470060). Functions as cofactor for JUN-activatedtranscription: required for phosphorylation of JUN at 'Ser-77'(PubMed:11823437, PubMed:25260534). Can unwind double-stranded RNA(helicase) and can fold or introduce a secondary structure to asingle-stranded RNA (foldase) (PubMed:9461305). Involved in rRNAprocessing (PubMed:14559904, PubMed:18180292). May bind tospecific miRNA hairpins (PubMed:28431233).{ECO:0000269|PubMed:11823437, ECO:0000269|PubMed:14559904,ECO:0000269|PubMed:18180292, ECO:0000269|PubMed:25260534,ECO:0000269|PubMed:25470060, ECO:0000269|PubMed:25477391,ECO:0000269|PubMed:28431233, ECO:0000269|PubMed:9461305}. |
![]() * 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 ASAH1_DDX21 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for ASAH1_DDX21 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ASAH1 | SETDB1, TSC22D1, PSMA3, FBXO6, CAMK1D, SRPK1, GSG1, PNKD, AAGAB, AAMP, NEFH, CAMK2B, HSF2, HSPB2, HERC2, CYP1A2, GLT1D1, ZIC1, ZSCAN12, FTH1, NONO, TBC1D22B, SLCO6A1, AIRE, HTATIP2, RNF6, TRMT2A, ZNF684, ZNF556, HMP19, LYPD1, NCDN | DDX21 | LYAR, PSTPIP1, RTCA, SMNDC1, JUN, RRP1B, SRRM2, SRRM1, CTNNBL1, DOT1L, NPM1, NOP56, TOP1, CALM1, PCK1, HDGF, SIRT7, HNRNPA1, TERF1, TERF2, CUL3, CUL4A, CDK2, GRK5, RPL6, RPL7, RPL31, RPL37A, RPS11, RPS24, RPL5, RSL1D1, RPL19, RPS23, IK, RNPS1, SAP18, SRSF5, SRSF7, HNRNPR, SFPQ, EFTUD2, RBM39, PARP1, RRP7A, RRS1, THRAP3, SON, MYO1C, SSR3, FTSJ3, NFIA, NOP2, SMARCA1, PCDHA2, SUPT16H, PDS5A, LAMP2, LMNB1, S100A9, ESR1, APTX, H2AFX, SMURF1, YWHAE, VCAM1, FN1, CSNK2A1, IL7R, ITGA4, AICDA, PAN2, LYN, SRPK2, SRPK3, FBXO6, TARDBP, WWOX, ERG, LGR4, IVNS1ABP, STAU1, CEP250, HUWE1, PA2G4, KPNA3, CUL7, OBSL1, CCDC8, UBE2I, EED, SUMO2, ILK, MAST3, LUZP4, EBNA1BP2, RPL14, ZC3H3, THUMPD1, NTRK1, DDX50, SCARNA22, HIST1H3E, HNRNPU, RPL10, IBTK, MACROD1, MCM2, MCM5, CDC5L, U2AF2, C1orf131, ZNF746, RBM34, FGF8, WDR46, HIST1H1T, SYNCRIP, ZNF512, RPL30, CNBP, H2AFY2, MECP2, E4F1, GPATCH4, ZCRB1, RBM4, FGF3, NIFK, NCL, INO80B, COX15, DLST, DNM1L, VDAC1, G3BP1, BRCA1, LMNA, RNF168, TES, MTF1 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ASAH1_DDX21 |
![]() (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 ASAH1_DDX21 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ASAH1 | C0268255 | Farber Lipogranulomatosis | 8 | CTD_human;ORPHANET;UNIPROT |
Hgene | ASAH1 | C0023794 | Lipoidosis | 2 | CTD_human |
Hgene | ASAH1 | C1834569 | Jankovic Rivera syndrome | 2 | ORPHANET;UNIPROT |
Hgene | ASAH1 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
Hgene | ASAH1 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | ASAH1 | C0221765 | Chronic schizophrenia | 1 | PSYGENET |