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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: 2885

FusionGeneSummary for ASAH1_DDX21

check button Fusion gene summary
Fusion gene informationFusion gene name: ASAH1_DDX21
Fusion gene ID: 2885
HgeneTgene
Gene symbol

ASAH1

DDX21

Gene ID

427

54606

Gene nameN-acylsphingosine amidohydrolase 1DEAD-box helicase 56
SynonymsAC|ACDase|ASAH|PHP|PHP32|SMAPMEDDX21|DDX26|NOH61
Cytomap

8p22

7p13

Type of geneprotein-codingprotein-coding
Descriptionacid ceramidaseN-acylsphingosine amidohydrolase (acid ceramidase) 1acid CDaseacylsphingosine deacylaseputative 32 kDa heart proteinprobable 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 date2018052920180522
UniProtAcc

Q13510

Q9NR30

Ensembl transtripts involved in fusion geneENST00000262097, ENST00000381733, 
ENST00000417108, ENST00000520781, 
ENST00000314146, ENST00000520051, 
ENST00000354185, 
Fusion gene scores* DoF score6 X 7 X 3=12633 X 8 X 14=3696
# samples 737
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID

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
TCGARVPRADTCGA-HC-7210-01AASAH1chr8

17913961

-DDX21chr10

70723858

+
* 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
intron-intronENST00000262097ENST00000354185ASAH1chr8

17913961

-DDX21chr10

70723858

+
intron-intronENST00000381733ENST00000354185ASAH1chr8

17913961

-DDX21chr10

70723858

+
5CDS-intronENST00000417108ENST00000354185ASAH1chr8

17913961

-DDX21chr10

70723858

+
5CDS-intronENST00000520781ENST00000354185ASAH1chr8

17913961

-DDX21chr10

70723858

+
intron-intronENST00000314146ENST00000354185ASAH1chr8

17913961

-DDX21chr10

70723858

+
intron-intronENST00000520051ENST00000354185ASAH1chr8

17913961

-DDX21chr10

70723858

+

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FusionProtFeatures for ASAH1_DDX21


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ASAH1

Q13510

DDX21

Q9NR30

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}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for ASAH1_DDX21


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for ASAH1_DDX21


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
ASAH1SETDB1, 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, NCDNDDX21LYAR, 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


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 ASAH1_DDX21


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 ASAH1_DDX21


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneASAH1C0268255Farber Lipogranulomatosis8CTD_human;ORPHANET;UNIPROT
HgeneASAH1C0023794Lipoidosis2CTD_human
HgeneASAH1C1834569Jankovic Rivera syndrome2ORPHANET;UNIPROT
HgeneASAH1C0023893Liver Cirrhosis, Experimental1CTD_human
HgeneASAH1C0036341Schizophrenia1PSYGENET
HgeneASAH1C0221765Chronic schizophrenia1PSYGENET