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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:DDX1-ANKS1B (FusionGDB2 ID:HG1653TG56899)

Fusion Gene Summary for DDX1-ANKS1B

check button Fusion gene summary
Fusion gene informationFusion gene name: DDX1-ANKS1B
Fusion gene ID: hg1653tg56899
HgeneTgene
Gene symbol

DDX1

ANKS1B

Gene ID

1653

56899

Gene nameDEAD-box helicase 1ankyrin repeat and sterile alpha motif domain containing 1B
SynonymsDBP-RB|UKVH5dAIDA|AIDA-1|ANKS2|EB-1|EB1|cajalin-2
Cytomap('DDX1')('ANKS1B')

2p24.3

12q23.1

Type of geneprotein-codingprotein-coding
DescriptionATP-dependent RNA helicase DDX1DEAD (Asp-Glu-Ala-Asp) box helicase 1DEAD (Asp-Glu-Ala-Asp) box polypeptide 1DEAD box polypeptide 1DEAD box protein 1DEAD box protein retinoblastomaDEAD box-1DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1DEAD/H-box hankyrin repeat and sterile alpha motif domain-containing protein 1BE2a-Pbx1-associated proteinamyloid-beta precursor protein intracellular domain associated protein 1cajalin 2
Modification date2020031320200313
UniProtAcc

Q92499

Q7Z6G8

Ensembl transtripts involved in fusion geneENST00000233084, ENST00000381341, 
Fusion gene scores* DoF score3 X 3 X 2=1827 X 22 X 9=5346
# samples 328
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(28/5346*10)=-4.25496110529811
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DDX1 [Title/Abstract] AND ANKS1B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDDX1(15746139)-ANKS1B(99975349), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneDDX1

GO:0006302

double-strand break repair

18710941

HgeneDDX1

GO:0032508

DNA duplex unwinding

18710941

HgeneDDX1

GO:0090305

nucleic acid phosphodiester bond hydrolysis

18710941



check button 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/AFN071721DDX1chr2

15746139

-ANKS1Bchr12

99975349

+


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Fusion Gene ORF analysis for DDX1-ANKS1B

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
5CDS-intronENST00000233084ENST00000329257DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000233084ENST00000332712DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000233084ENST00000333732DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000233084ENST00000341752DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000233084ENST00000546568DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000233084ENST00000546960DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000233084ENST00000547010DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000233084ENST00000547446DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000233084ENST00000547776DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000233084ENST00000549025DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000233084ENST00000549493DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000233084ENST00000549558DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000233084ENST00000550693DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000233084ENST00000550833DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000381341ENST00000329257DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000381341ENST00000332712DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000381341ENST00000333732DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000381341ENST00000341752DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000381341ENST00000546568DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000381341ENST00000546960DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000381341ENST00000547010DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000381341ENST00000547446DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000381341ENST00000547776DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000381341ENST00000549025DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000381341ENST00000549493DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000381341ENST00000549558DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000381341ENST00000550693DDX1chr2

15746139

-ANKS1Bchr12

99975349

+
5CDS-intronENST00000381341ENST00000550833DDX1chr2

15746139

-ANKS1Bchr12

99975349

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF 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.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for DDX1-ANKS1B


check buttonFusionAI 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.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for DDX1-ANKS1B


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:15746139/:99975349)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
DDX1

Q92499

ANKS1B

Q7Z6G8

FUNCTION: Acts as an ATP-dependent RNA helicase, able to unwind both RNA-RNA and RNA-DNA duplexes. Possesses 5' single-stranded RNA overhang nuclease activity. Possesses ATPase activity on various RNA, but not DNA polynucleotides. May play a role in RNA clearance at DNA double-strand breaks (DSBs), thereby facilitating the template-guided repair of transcriptionally active regions of the genome. Together with RELA, acts as a coactivator to enhance NF-kappa-B-mediated transcriptional activation. Acts as a positive transcriptional regulator of cyclin CCND2 expression. Binds to the cyclin CCND2 promoter region. Associates with chromatin at the NF-kappa-B promoter region via association with RELA. Binds to poly(A) RNA. May be involved in 3'-end cleavage and polyadenylation of pre-mRNAs. Component of the tRNA-splicing ligase complex required to facilitate the enzymatic turnover of catalytic subunit RTCB: together with archease (ZBTB8OS), acts by facilitating the guanylylation of RTCB, a key intermediate step in tRNA ligation (PubMed:24870230). Component of a multi-helicase-TICAM1 complex that acts as a cytoplasmic sensor of viral double-stranded RNA (dsRNA) and plays a role in the activation of a cascade of antiviral responses including the induction of proinflammatory cytokines via the adapter molecule TICAM1. Specifically binds (via helicase ATP-binding domain) on both short and long poly(I:C) dsRNA (By similarity). {ECO:0000250|UniProtKB:Q91VR5, ECO:0000269|PubMed:12183465, ECO:0000269|PubMed:15567440, ECO:0000269|PubMed:18335541, ECO:0000269|PubMed:18710941, ECO:0000269|PubMed:20573827, ECO:0000269|PubMed:24870230}.; FUNCTION: (Microbial infection) Required for HIV-1 Rev function as well as for HIV-1 and coronavirus IBV replication. Binds to the RRE sequence of HIV-1 mRNAs. {ECO:0000269|PubMed:15567440}.; FUNCTION: (Microbial infection) Required for Coronavirus IBV replication. {ECO:0000269|PubMed:20573827}.FUNCTION: Isoform 2 may participate in the regulation of nucleoplasmic coilin protein interactions in neuronal and transformed cells.; FUNCTION: Isoform 3 can regulate global protein synthesis by altering nucleolar numbers. {ECO:0000250, ECO:0000269|PubMed:15347684, ECO:0000269|PubMed:15862129}.; FUNCTION: Isoform 4 may play a role as a modulator of APP processing. Overexpression can down-regulate APP processing.

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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Fusion Gene Sequence for DDX1-ANKS1B


check button 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.

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Fusion Gene PPI Analysis for DDX1-ANKS1B


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


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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Related Drugs for DDX1-ANKS1B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for DDX1-ANKS1B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDDX1C0013146Drug abuse1CTD_human
HgeneDDX1C0013170Drug habituation1CTD_human
HgeneDDX1C0013222Drug Use Disorders1CTD_human
HgeneDDX1C0014173Endometrial Hyperplasia1CTD_human
HgeneDDX1C0029231Organic Mental Disorders, Substance-Induced1CTD_human
HgeneDDX1C0038580Substance Dependence1CTD_human
HgeneDDX1C0038586Substance Use Disorders1CTD_human
HgeneDDX1C0236969Substance-Related Disorders1CTD_human
HgeneDDX1C0349578Complex Endometrial Hyperplasia1CTD_human
HgeneDDX1C0349579Atypical Endometrial Hyperplasia1CTD_human
HgeneDDX1C0456483Simple Endometrial Hyperplasia1CTD_human
HgeneDDX1C0740858Substance abuse problem1CTD_human
HgeneDDX1C1510472Drug Dependence1CTD_human
HgeneDDX1C4316881Prescription Drug Abuse1CTD_human
TgeneC0019202Hepatolenticular Degeneration1CTD_human
TgeneC1527352Hepatic Form of Wilson Disease1CTD_human