FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 3013

FusionGeneSummary for ASPHD2_DDX17

check button Fusion gene summary
Fusion gene informationFusion gene name: ASPHD2_DDX17
Fusion gene ID: 3013
HgeneTgene
Gene symbol

ASPHD2

DDX17

Gene ID

57168

10521

Gene nameaspartate beta-hydroxylase domain containing 2DEAD-box helicase 17
Synonyms-P72|RH70
Cytomap

22q12.1

22q13.1

Type of geneprotein-codingprotein-coding
Descriptionaspartate beta-hydroxylase domain-containing protein 2probable ATP-dependent RNA helicase DDX17DEAD (Asp-Glu-Ala-Asp) box helicase 17DEAD (Asp-Glu-Ala-Asp) box polypeptide 17DEAD box protein p72DEAD box protein p82DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)RNA-dependent helicase p72
Modification date2018051920180522
UniProtAcc

Q6ICH7

Q92841

Ensembl transtripts involved in fusion geneENST00000215906, ENST00000396821, 
ENST00000444597, ENST00000381633, 
ENST00000432525, 
Fusion gene scores* DoF score1 X 1 X 1=112 X 14 X 3=504
# samples 114
** MAII scorelog2(1/1*10)=3.32192809488736log2(14/504*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ASPHD2 [Title/Abstract] AND DDX17 [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
TgeneDDX17

GO:0045944

positive regulation of transcription by RNA polymerase II

17226766


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
TCGALDLUADTCGA-50-6594-01AASPHD2chr22

26825452

+DDX17chr22

38888120

-
* 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
5UTR-3CDSENST00000215906ENST00000396821ASPHD2chr22

26825452

+DDX17chr22

38888120

-
5UTR-intronENST00000215906ENST00000444597ASPHD2chr22

26825452

+DDX17chr22

38888120

-
5UTR-intronENST00000215906ENST00000381633ASPHD2chr22

26825452

+DDX17chr22

38888120

-
5UTR-5UTRENST00000215906ENST00000432525ASPHD2chr22

26825452

+DDX17chr22

38888120

-

Top

FusionProtFeatures for ASPHD2_DDX17


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ASPHD2

Q6ICH7

DDX17

Q92841

May function as 2-oxoglutarate-dependent dioxygenase.{ECO:0000250}. As an RNA helicase, unwinds RNA and alters RNAstructures through ATP binding and hydrolysis. Involved inmultiple cellular processes, including pre-mRNA splicing,alternative splicing, ribosomal RNA processing and miRNAprocessing, as well as transcription regulation. Regulates thealternative splicing of exons exhibiting specific features(PubMed:12138182, PubMed:23022728, PubMed:24910439,PubMed:22266867). For instance, promotes the inclusion of AC-richalternative exons in CD44 transcripts (PubMed:12138182). Thisfunction requires the RNA helicase activity (PubMed:12138182,PubMed:23022728, PubMed:24910439, PubMed:22266867). Affects NFAT5and histone macro-H2A.1/H2AFY alternative splicing in a CDK9-dependent manner (PubMed:26209609, PubMed:22266867). In NFAT5,promotes the introduction of alternative exon 4, which contains 2stop codons and may target NFAT5 exon 4-containing transcripts tononsense-mediated mRNA decay, leading to the down-regulation ofNFAT5 protein (PubMed:22266867). Affects splicing of mediators ofsteroid hormone signaling pathway, including kinases thatphosphorylates ESR1, such as CDK2, MAPK1 and GSK3B, andtranscriptional regulators, such as CREBBP, MED1, NCOR1 and NCOR2.By affecting GSK3B splicing, participates in ESR1 and ARstabilization (PubMed:24275493). In myoblasts and epithelialcells, cooperates with HNRNPH1 to control the splicing of specificsubsets of exons (PubMed:24910439). In addition to binding maturemRNAs, also interacts with certain pri-microRNAs, includingMIR663/miR-663a, MIR99B/miR-99b, and MIR6087/miR-6087(PubMed:25126784). Binds pri-microRNAs on the 3' segment flankingthe stem loop via the 5'-[ACG]CAUC[ACU]-3' consensus sequence(PubMed:24581491). Required for the production of subsets ofmicroRNAs, including MIR21 and MIR125B1 (PubMed:24581491,PubMed:27478153). May be involved not only in microRNA primarytranscript processing, but also stabilization (By similarity).Participates in MYC down-regulation at high cell density throughthe production of MYC-targeting microRNAs (PubMed:24581491). Alongwith DDX5, may be involved in the processing of the 32Sintermediate into the mature 28S ribosomal RNA (PubMed:17485482).Promoter-specific transcription regulator, functioning as acoactivator or corepressor depending on the context of thepromoter and the transcriptional complex in which it exists(PubMed:15298701). Enhances NFAT5 transcriptional activity(PubMed:22266867). Synergizes with TP53 in the activation of theMDM2 promoter; this activity requires acetylation on lysineresidues (PubMed:17226766, PubMed:20663877, PubMed:19995069). Mayalso coactivate MDM2 transcription through a TP53-independentpathway (PubMed:17226766). Coactivates MMP7 transcription(PubMed:17226766). Along with CTNNB1, coactivates MYC, JUN, FOSL1and cyclin D1/CCND1 transcription (PubMed:17699760). Alone or incombination with DDX5 and/or SRA1 non-coding RNA, plays a criticalrole in promoting the assembly of proteins required for theformation of the transcription initiation complex and chromatinremodeling leading to coactivation of MYOD1-dependenttranscription. This helicase-independent activity is required forskeletal muscle cells to properly differentiate into myotubes(PubMed:17011493, PubMed:24910439). During epithelial-to-mesenchymal transition, coregulates SMAD-dependent transcriptionalactivity, directly controlling key effectors of differentiation,including miRNAs which in turn directly repress its expression(PubMed:24910439). Plays a role in estrogen and testosteronesignaling pathway at several levels. Mediates the use ofalternative promoters in estrogen-responsive genes and regulatestranscription and splicing of a large number of steroid hormonetarget genes (PubMed:24275493, PubMed:20406972, PubMed:20663877,PubMed:19995069). Contrary to splicing regulation activity,transcriptional coregulation of the estrogen receptor ESR1 ishelicase-independent (PubMed:19718048, PubMed:24275493). Plays arole in innate immunity. Specifically restricts bunyavirusinfection, including Rift Valley fever virus (RVFV) or La Crossevirus (LACV), but not vesicular stomatitis virus (VSV), in aninterferon- and DROSHA-independent manner (PubMed:25126784). Bindsto RVFV RNA, likely via structured viral RNA elements(PubMed:25126784). Promotes mRNA degradation mediated by theantiviral zinc-finger protein ZC3HAV1, in an ATPase-dependentmanner (PubMed:18334637). {ECO:0000250|UniProtKB:Q501J6,ECO:0000269|PubMed:12138182, ECO:0000269|PubMed:15298701,ECO:0000269|PubMed:17011493, ECO:0000269|PubMed:17226766,ECO:0000269|PubMed:17485482, ECO:0000269|PubMed:17699760,ECO:0000269|PubMed:18334637, ECO:0000269|PubMed:19718048,ECO:0000269|PubMed:19995069, ECO:0000269|PubMed:20406972,ECO:0000269|PubMed:20663877, ECO:0000269|PubMed:22266867,ECO:0000269|PubMed:23022728, ECO:0000269|PubMed:24275493,ECO:0000269|PubMed:24581491, ECO:0000269|PubMed:24910439,ECO:0000269|PubMed:25126784, ECO:0000269|PubMed:26209609,ECO:0000269|PubMed:27478153, ECO:0000305}.

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


Top

FusionGeneSequence for ASPHD2_DDX17


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).

Top

FusionGenePPI for ASPHD2_DDX17


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
ASPHD2SPINT2, CD1B, TOR1A, LYPD3, B4GALT3, GALNT6, C12orf49, FAM20B, GYPB, ADAM32, GRPR, DLK2, ADAM2, GPR114, ST3GAL1, ST3GAL2, ADAM21, TMEM206, C5AR2, RNF170, LYPD4, GXYLT1, IZUMO1DDX17SF1, WBP11, LNX1, SORBS3, HDAC1, SNRNP70, HNRNPA1, HNRNPH1, KHDRBS2, MEPCE, AIRE, FOS, MDM2, KAT2B, CREBBP, EP300, TADA2A, UBC, SMN1, DGCR8, HDAC5, TOP1, ZWINT, ESR1, VHL, SMARCAD1, SREK1, HDGF, CENPA, MBNL1, ELAVL1, SF3A2, SH3KBP1, TCF3, XRCC5, ISG15, CUL3, CUL2, CDK2, CUL1, COPS5, CAND1, NEDD8, DDX5, DDX17, HDAC2, HDAC3, APP, DHX9, SRSF1, EFTUD2, SRSF3, SF3A1, ACIN1, HSPD1, ADAR, RANBP2, EIF5A, NOTCH1, MAGOH, EIF4A3, MYC, FN1, VCAM1, SF3B4, U2AF2, HNRNPK, RBM4, HNRNPH3, CSNK2A1, MAP1LC3A, ITGA4, CD81, IGSF8, ICAM1, FBXO6, TARDBP, PARK2, APBB1, PIN1, P3H1, LSM1, PRPSAP1, RPA1, RPA2, RPA3, WWOX, LGR4, CDC37, IVNS1ABP, STAU1, SPRTN, CEP250, BYSL, GRB2, RBM15, CUL7, OBSL1, CCDC8, EED, SUMO2, RPS6KB2, NTRK1, ATXN2, ATXN2L, CPSF6, DHX15, EEF1A1, FUS, HNRNPA3, KHDRBS1, PDIA3, PLK1, PTBP1, RTFDC1, SBDS, SYNCRIP, TXLNA, TXLNG, HNRNPL, ILK, NOSIP, PARVA, PLEC, PROSC, QARS, SFPQ, SMARCC2, YLPM1, SCARNA22, EWSR1, XPO1, MATR3, RNPS1, UBA5, THOC7, CRY2, FBXW7, MCM2, MCM5, CDC5L, SENP3, RC3H1, TRAF6, WWP2, FNBP4, IGHA2, AMY1C, IGHA1, NIF3L1, AMPD2, PPP1R7, WBP2, CYLD, INO80B, BRCA1, 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


Top

RelatedDrugs for ASPHD2_DDX17


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for ASPHD2_DDX17


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource