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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:IST1-DHX38 (FusionGDB2 ID:40326)

Fusion Gene Summary for IST1-DHX38

check button Fusion gene summary
Fusion gene informationFusion gene name: IST1-DHX38
Fusion gene ID: 40326
HgeneTgene
Gene symbol

IST1

DHX38

Gene ID

9798

9785

Gene nameIST1 factor associated with ESCRT-IIIDEAH-box helicase 38
SynonymsCHMP8|OLC1DDX38|PRP16|PRPF16|RP84
Cytomap

16q22.2

16q22.2

Type of geneprotein-codingprotein-coding
DescriptionIST1 homologIST1, ESCRT-III associated factorIST1, endosomal sorting complex required for transport-III componentincreased sodium tolerance 1 homologoverexpressed in lung cancer 1putative MAPK-activating protein PM28pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16ATP-dependent RNA helicase DHX38DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38DEAH (Asp-Glu-Ala-His) box polypeptide 38DEAH box protein 38PRP16 homolog of S.cerevisiae
Modification date2020031320200313
UniProtAcc

P53990

Q92620

Ensembl transtripts involved in fusion geneENST00000538565, ENST00000329908, 
ENST00000378798, ENST00000378799, 
ENST00000538850, ENST00000606369, 
ENST00000535424, ENST00000541571, 
ENST00000544564, 		ENST00000268482, 
ENST00000536867, 
Fusion gene scores* DoF score12 X 6 X 4=2886 X 7 X 2=84
# samples 137
** MAII scorelog2(13/288*10)=-1.14755718841386
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(7/84*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: IST1 [Title/Abstract] AND DHX38 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointIST1(71929492)-DHX38(72130038), # samples:3
IST1(71929492)-DHX38(72130037), # samples:3
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
HgeneIST1

GO:0009838

abscission

19129479|19129480

HgeneIST1

GO:0019076

viral release from host cell

19129479

HgeneIST1

GO:0045862

positive regulation of proteolysis

20849418

HgeneIST1

GO:0046745

viral capsid secondary envelopment

19129479

TgeneDHX38

GO:0000398

mRNA splicing, via spliceosome

9524131


check buttonFusion gene breakpoints across IST1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across DHX38 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4ESCATCGA-L5-A8NI-01AIST1chr16

71929492

+DHX38chr16

72130038

+
ChimerDB4ESCATCGA-L5-A8NIIST1chr16

71929492

+DHX38chr16

72130037

+
ChimerDB4ESCATCGA-L5-A8NIIST1chr16

71929492

+DHX38chr16

72130038

+
ChimerDB4UCECTCGA-A5-A0G5-01AIST1chr16

71929492

+DHX38chr16

72130038

+
ChimerDB4UCECTCGA-A5-A0G5IST1chr16

71929492

+DHX38chr16

72130037

+


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Fusion Gene ORF analysis for IST1-DHX38

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
3UTR-5UTRENST00000538565ENST00000268482IST1chr16

71929492

+DHX38chr16

72130038

+
3UTR-5UTRENST00000538565ENST00000268482IST1chr16

71929492

+DHX38chr16

72130037

+
3UTR-5UTRENST00000538565ENST00000536867IST1chr16

71929492

+DHX38chr16

72130038

+
3UTR-5UTRENST00000538565ENST00000536867IST1chr16

71929492

+DHX38chr16

72130037

+
5UTR-5UTRENST00000329908ENST00000268482IST1chr16

71929492

+DHX38chr16

72130038

+
5UTR-5UTRENST00000329908ENST00000268482IST1chr16

71929492

+DHX38chr16

72130037

+
5UTR-5UTRENST00000329908ENST00000536867IST1chr16

71929492

+DHX38chr16

72130038

+
5UTR-5UTRENST00000329908ENST00000536867IST1chr16

71929492

+DHX38chr16

72130037

+
5UTR-5UTRENST00000378798ENST00000268482IST1chr16

71929492

+DHX38chr16

72130038

+
5UTR-5UTRENST00000378798ENST00000268482IST1chr16

71929492

+DHX38chr16

72130037

+
5UTR-5UTRENST00000378798ENST00000536867IST1chr16

71929492

+DHX38chr16

72130038

+
5UTR-5UTRENST00000378798ENST00000536867IST1chr16

71929492

+DHX38chr16

72130037

+
5UTR-5UTRENST00000378799ENST00000268482IST1chr16

71929492

+DHX38chr16

72130038

+
5UTR-5UTRENST00000378799ENST00000268482IST1chr16

71929492

+DHX38chr16

72130037

+
5UTR-5UTRENST00000378799ENST00000536867IST1chr16

71929492

+DHX38chr16

72130038

+
5UTR-5UTRENST00000378799ENST00000536867IST1chr16

71929492

+DHX38chr16

72130037

+
5UTR-5UTRENST00000538850ENST00000268482IST1chr16

71929492

+DHX38chr16

72130038

+
5UTR-5UTRENST00000538850ENST00000268482IST1chr16

71929492

+DHX38chr16

72130037

+
5UTR-5UTRENST00000538850ENST00000536867IST1chr16

71929492

+DHX38chr16

72130038

+
5UTR-5UTRENST00000538850ENST00000536867IST1chr16

71929492

+DHX38chr16

72130037

+
5UTR-5UTRENST00000606369ENST00000268482IST1chr16

71929492

+DHX38chr16

72130038

+
5UTR-5UTRENST00000606369ENST00000268482IST1chr16

71929492

+DHX38chr16

72130037

+
5UTR-5UTRENST00000606369ENST00000536867IST1chr16

71929492

+DHX38chr16

72130038

+
5UTR-5UTRENST00000606369ENST00000536867IST1chr16

71929492

+DHX38chr16

72130037

+
intron-5UTRENST00000535424ENST00000268482IST1chr16

71929492

+DHX38chr16

72130038

+
intron-5UTRENST00000535424ENST00000268482IST1chr16

71929492

+DHX38chr16

72130037

+
intron-5UTRENST00000535424ENST00000536867IST1chr16

71929492

+DHX38chr16

72130038

+
intron-5UTRENST00000535424ENST00000536867IST1chr16

71929492

+DHX38chr16

72130037

+
intron-5UTRENST00000541571ENST00000268482IST1chr16

71929492

+DHX38chr16

72130038

+
intron-5UTRENST00000541571ENST00000268482IST1chr16

71929492

+DHX38chr16

72130037

+
intron-5UTRENST00000541571ENST00000536867IST1chr16

71929492

+DHX38chr16

72130038

+
intron-5UTRENST00000541571ENST00000536867IST1chr16

71929492

+DHX38chr16

72130037

+
intron-5UTRENST00000544564ENST00000268482IST1chr16

71929492

+DHX38chr16

72130038

+
intron-5UTRENST00000544564ENST00000268482IST1chr16

71929492

+DHX38chr16

72130037

+
intron-5UTRENST00000544564ENST00000536867IST1chr16

71929492

+DHX38chr16

72130038

+
intron-5UTRENST00000544564ENST00000536867IST1chr16

71929492

+DHX38chr16

72130037

+

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 IST1-DHX38


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)
IST1chr1671929492+DHX38chr1672130037+6.58E-060.99999344
IST1chr1671929492+DHX38chr1672130037+6.58E-060.99999344
IST1chr1671929492+DHX38chr1672130037+6.58E-060.99999344
IST1chr1671929492+DHX38chr1672130037+6.58E-060.99999344
IST1chr1671929492+DHX38chr1672130037+6.58E-060.99999344
IST1chr1671929492+DHX38chr1672130037+6.58E-060.99999344

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for IST1-DHX38


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/:71929492/:72130038)
- 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
IST1

P53990

DHX38

Q92620

FUNCTION: ESCRT-III-like protein involved in specific functions of the ESCRT machinery. Is required for efficient abscission during cytokinesis, but not for HIV-1 budding. The involvement in the MVB pathway is not established. Involved in recruiting VPS4A and/or VPS4B to the midbody of dividing cells (PubMed:19129479, PubMed:19129480). During late anaphase, involved in nuclear envelope reassembly and mitotic spindle disassembly together with the ESCRT-III complex: IST1 acts by mediating the recruitment of SPAST to the nuclear membrane, leading to microtubule severing (PubMed:26040712). Regulates early endosomal tubulation together with the ESCRT-III complex by mediating the recruitment of SPAST (PubMed:23897888). {ECO:0000269|PubMed:19129479, ECO:0000269|PubMed:19129480, ECO:0000269|PubMed:23897888, ECO:0000269|PubMed:26040712}.FUNCTION: Probable ATP-binding RNA helicase (Probable). Involved in pre-mRNA splicing as component of the spliceosome (PubMed:29301961, PubMed:9524131). {ECO:0000269|PubMed:29301961, ECO:0000269|PubMed:9524131, 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


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Fusion Gene Sequence for IST1-DHX38


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 IST1-DHX38


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 IST1-DHX38


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 IST1-DHX38


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