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Center for Computational Systems Medicine level2
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:DHX8-MSI2

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: DHX8-MSI2
FusionPDB ID: 22712
FusionGDB2.0 ID: 22712
HgeneTgene
Gene symbol

DHX8

MSI2

Gene ID

1659

124540

Gene nameDEAH-box helicase 8musashi RNA binding protein 2
SynonymsDDX8|Dhr2|HRH1|PRP22|PRPF22MSI2H
Cytomap

17q21.31

17q22

Type of geneprotein-codingprotein-coding
DescriptionATP-dependent RNA helicase DHX8DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)DEAH (Asp-Glu-Ala-His) box polypeptide 8DEAH box protein 8RNA helicase HRH1RNA-binding protein Musashi homolog 2musashi homolog 2musashi-2
Modification date2020032220200313
UniProtAcc

Q14562

Q96DH6

Ensembl transtripts involved in fusion geneENST idsENST00000262415, ENST00000540306, 
ENST00000579505, ENST00000284073, 
ENST00000322684, ENST00000416426, 
ENST00000442934, ENST00000579180, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score17 X 12 X 11=224426 X 18 X 10=4680
# samples 1830
** MAII scorelog2(18/2244*10)=-3.64000386427912
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(30/4680*10)=-3.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: DHX8 [Title/Abstract] AND MSI2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)DHX8(41567831)-MSI2(55674229), # samples:3
Anticipated loss of major functional domain due to fusion event.DHX8-MSI2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
DHX8-MSI2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
DHX8-MSI2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
DHX8-MSI2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
HgeneDHX8

GO:0000398

mRNA splicing, via spliceosome

28076346


check buttonFusion gene breakpoints across DHX8 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across MSI2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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
ChimerDB4PAADTCGA-HZ-A4BK-01ADHX8chr17

41567831

-MSI2chr17

55674229

+
ChimerDB4PAADTCGA-HZ-A4BK-01ADHX8chr17

41567831

+MSI2chr17

55674229

+
ChimerDB4PAADTCGA-HZ-A4BKDHX8chr17

41567831

+MSI2chr17

55674229

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000540306DHX8chr1741567831+ENST00000416426MSI2chr1755674229+157338230968312
ENST00000540306DHX8chr1741567831+ENST00000284073MSI2chr1755674229+608338230914294
ENST00000540306DHX8chr1741567831+ENST00000322684MSI2chr1755674229+176538230695221
ENST00000540306DHX8chr1741567831+ENST00000442934MSI2chr1755674229+169538230914294
ENST00000540306DHX8chr1741567831+ENST00000579180MSI2chr1755674229+177038230695221
ENST00000262415DHX8chr1741567831+ENST00000416426MSI2chr1755674229+157037927965312
ENST00000262415DHX8chr1741567831+ENST00000284073MSI2chr1755674229+608037927911294
ENST00000262415DHX8chr1741567831+ENST00000322684MSI2chr1755674229+176237927692221
ENST00000262415DHX8chr1741567831+ENST00000442934MSI2chr1755674229+169237927911294
ENST00000262415DHX8chr1741567831+ENST00000579180MSI2chr1755674229+176737927692221

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
ENST00000540306ENST00000416426DHX8chr1741567831+MSI2chr1755674229+0.0011124860.9988875
ENST00000540306ENST00000284073DHX8chr1741567831+MSI2chr1755674229+0.0001947940.9998053
ENST00000540306ENST00000322684DHX8chr1741567831+MSI2chr1755674229+0.0013387730.9986613
ENST00000540306ENST00000442934DHX8chr1741567831+MSI2chr1755674229+0.0006725580.9993274
ENST00000540306ENST00000579180DHX8chr1741567831+MSI2chr1755674229+0.0013382950.99866176
ENST00000262415ENST00000416426DHX8chr1741567831+MSI2chr1755674229+0.0011232590.99887675
ENST00000262415ENST00000284073DHX8chr1741567831+MSI2chr1755674229+0.0001949080.99980515
ENST00000262415ENST00000322684DHX8chr1741567831+MSI2chr1755674229+0.0011857010.99881434
ENST00000262415ENST00000442934DHX8chr1741567831+MSI2chr1755674229+0.0006752440.9993248
ENST00000262415ENST00000579180DHX8chr1741567831+MSI2chr1755674229+0.0011858090.9988142

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>22712_22712_1_DHX8-MSI2_DHX8_chr17_41567831_ENST00000262415_MSI2_chr17_55674229_ENST00000284073_length(amino acids)=294AA_BP=117
MSAGCEEGGSGQAIAMAVAVAMAGALIGSEPGPAEELAKLEYLSLVSKVCTELDNHLGINDKDLAEFVISLAEKNTTFDTFKASLVKNGA
EFTDSLISNLLRLIQTMRPPAKPSTSKGFGFVTFENEDVVEKVCEIHFHEINNKMVECKKAQPKEVMFPPGTRGRARGLPYTMDAFMLGM
GMLGYPNFVATYGRGYPGFAPSYGYQFPGFPAAAYGPVAAAAVAAARGSGSNPARPGGFPGANSPGPVADLYGPASQDSGVGNYISAASP

--------------------------------------------------------------

>22712_22712_2_DHX8-MSI2_DHX8_chr17_41567831_ENST00000262415_MSI2_chr17_55674229_ENST00000322684_length(amino acids)=221AA_BP=117
MSAGCEEGGSGQAIAMAVAVAMAGALIGSEPGPAEELAKLEYLSLVSKVCTELDNHLGINDKDLAEFVISLAEKNTTFDTFKASLVKNGA
EFTDSLISNLLRLIQTMRPPAKPSTSKGFGFVTFENEDVVEKVCEIHFHEINNKMVECKKAQPKEVMFPPGTRGRARGLPYTMDAFMLGM

--------------------------------------------------------------

>22712_22712_3_DHX8-MSI2_DHX8_chr17_41567831_ENST00000262415_MSI2_chr17_55674229_ENST00000416426_length(amino acids)=312AA_BP=117
MSAGCEEGGSGQAIAMAVAVAMAGALIGSEPGPAEELAKLEYLSLVSKVCTELDNHLGINDKDLAEFVISLAEKNTTFDTFKASLVKNGA
EFTDSLISNLLRLIQTMRPPAKPSTSKGFGFVTFENEDVVEKVCEIHFHEINNKMVECKKAQPKEVMFPPGTRGRARGLPYTMDAFMLGM
GMLGYPNFVATYGRGYPGFAPSYGYQFPGFPAAAYGPVAAAAVAAARGSVLNSYSAQPNFGAPASPAGSNPARPGGFPGANSPGPVADLY

--------------------------------------------------------------

>22712_22712_4_DHX8-MSI2_DHX8_chr17_41567831_ENST00000262415_MSI2_chr17_55674229_ENST00000442934_length(amino acids)=294AA_BP=117
MSAGCEEGGSGQAIAMAVAVAMAGALIGSEPGPAEELAKLEYLSLVSKVCTELDNHLGINDKDLAEFVISLAEKNTTFDTFKASLVKNGA
EFTDSLISNLLRLIQTMRPPAKPSTSKGFGFVTFENEDVVEKVCEIHFHEINNKMVECKKAQPKEVMFPPGTRGRARGLPYTMDAFMLGM
GMLGYPNFVATYGRGYPGFAPSYGYQFPGFPAAAYGPVAAAAVAAARGSGSNPARPGGFPGANSPGPVADLYGPASQDSGVGNYISAASP

--------------------------------------------------------------

>22712_22712_5_DHX8-MSI2_DHX8_chr17_41567831_ENST00000262415_MSI2_chr17_55674229_ENST00000579180_length(amino acids)=221AA_BP=117
MSAGCEEGGSGQAIAMAVAVAMAGALIGSEPGPAEELAKLEYLSLVSKVCTELDNHLGINDKDLAEFVISLAEKNTTFDTFKASLVKNGA
EFTDSLISNLLRLIQTMRPPAKPSTSKGFGFVTFENEDVVEKVCEIHFHEINNKMVECKKAQPKEVMFPPGTRGRARGLPYTMDAFMLGM

--------------------------------------------------------------

>22712_22712_6_DHX8-MSI2_DHX8_chr17_41567831_ENST00000540306_MSI2_chr17_55674229_ENST00000284073_length(amino acids)=294AA_BP=117
MSAGCEEGGSGQAIAMAVAVAMAGALIGSEPGPAEELAKLEYLSLVSKVCTELDNHLGINDKDLAEFVISLAEKNTTFDTFKASLVKNGA
EFTDSLISNLLRLIQTMRPPAKPSTSKGFGFVTFENEDVVEKVCEIHFHEINNKMVECKKAQPKEVMFPPGTRGRARGLPYTMDAFMLGM
GMLGYPNFVATYGRGYPGFAPSYGYQFPGFPAAAYGPVAAAAVAAARGSGSNPARPGGFPGANSPGPVADLYGPASQDSGVGNYISAASP

--------------------------------------------------------------

>22712_22712_7_DHX8-MSI2_DHX8_chr17_41567831_ENST00000540306_MSI2_chr17_55674229_ENST00000322684_length(amino acids)=221AA_BP=117
MSAGCEEGGSGQAIAMAVAVAMAGALIGSEPGPAEELAKLEYLSLVSKVCTELDNHLGINDKDLAEFVISLAEKNTTFDTFKASLVKNGA
EFTDSLISNLLRLIQTMRPPAKPSTSKGFGFVTFENEDVVEKVCEIHFHEINNKMVECKKAQPKEVMFPPGTRGRARGLPYTMDAFMLGM

--------------------------------------------------------------

>22712_22712_8_DHX8-MSI2_DHX8_chr17_41567831_ENST00000540306_MSI2_chr17_55674229_ENST00000416426_length(amino acids)=312AA_BP=117
MSAGCEEGGSGQAIAMAVAVAMAGALIGSEPGPAEELAKLEYLSLVSKVCTELDNHLGINDKDLAEFVISLAEKNTTFDTFKASLVKNGA
EFTDSLISNLLRLIQTMRPPAKPSTSKGFGFVTFENEDVVEKVCEIHFHEINNKMVECKKAQPKEVMFPPGTRGRARGLPYTMDAFMLGM
GMLGYPNFVATYGRGYPGFAPSYGYQFPGFPAAAYGPVAAAAVAAARGSVLNSYSAQPNFGAPASPAGSNPARPGGFPGANSPGPVADLY

--------------------------------------------------------------

>22712_22712_9_DHX8-MSI2_DHX8_chr17_41567831_ENST00000540306_MSI2_chr17_55674229_ENST00000442934_length(amino acids)=294AA_BP=117
MSAGCEEGGSGQAIAMAVAVAMAGALIGSEPGPAEELAKLEYLSLVSKVCTELDNHLGINDKDLAEFVISLAEKNTTFDTFKASLVKNGA
EFTDSLISNLLRLIQTMRPPAKPSTSKGFGFVTFENEDVVEKVCEIHFHEINNKMVECKKAQPKEVMFPPGTRGRARGLPYTMDAFMLGM
GMLGYPNFVATYGRGYPGFAPSYGYQFPGFPAAAYGPVAAAAVAAARGSGSNPARPGGFPGANSPGPVADLYGPASQDSGVGNYISAASP

--------------------------------------------------------------

>22712_22712_10_DHX8-MSI2_DHX8_chr17_41567831_ENST00000540306_MSI2_chr17_55674229_ENST00000579180_length(amino acids)=221AA_BP=117
MSAGCEEGGSGQAIAMAVAVAMAGALIGSEPGPAEELAKLEYLSLVSKVCTELDNHLGINDKDLAEFVISLAEKNTTFDTFKASLVKNGA
EFTDSLISNLLRLIQTMRPPAKPSTSKGFGFVTFENEDVVEKVCEIHFHEINNKMVECKKAQPKEVMFPPGTRGRARGLPYTMDAFMLGM

--------------------------------------------------------------

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Fusion Protein Functional Features


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/chr17:41567831/chr17:55674229)
- 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
DHX8

Q14562

MSI2

Q96DH6

FUNCTION: Involved in pre-mRNA splicing as component of the spliceosome (PubMed:11991638, PubMed:28502770, PubMed:28076346). Facilitates nuclear export of spliced mRNA by releasing the RNA from the spliceosome (PubMed:8608946). {ECO:0000269|PubMed:11991638, ECO:0000269|PubMed:28076346, ECO:0000269|PubMed:28502770, ECO:0000269|PubMed:8608946}.FUNCTION: RNA binding protein that regulates the expression of target mRNAs at the translation level. May play a role in the proliferation and maintenance of stem cells in the central nervous system (By similarity). {ECO:0000250}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneMSI2chr17:41567831chr17:55674229ENST00000284073614253_260151.333333333333341951.0Compositional biasNote=Poly-Ala
TgeneMSI2chr17:41567831chr17:55674229ENST00000322684510253_260147.33333333333334252.0Compositional biasNote=Poly-Ala
TgeneMSI2chr17:41567831chr17:55674229ENST0000057918027253_26047.333333333333336152.0Compositional biasNote=Poly-Ala
TgeneMSI2chr17:41567831chr17:55674229ENST0000057918027110_18747.333333333333336152.0DomainRRM 2

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneDHX8chr17:41567831chr17:55674229ENST00000262415+323172_175102.333333333333331221.0Compositional biasNote=Poly-Lys
HgeneDHX8chr17:41567831chr17:55674229ENST00000262415+323176_228102.333333333333331221.0Compositional biasNote=Arg/Ser-rich (RS domain)
HgeneDHX8chr17:41567831chr17:55674229ENST00000262415+323265_336102.333333333333331221.0DomainS1 motif
HgeneDHX8chr17:41567831chr17:55674229ENST00000262415+323575_738102.333333333333331221.0DomainHelicase ATP-binding
HgeneDHX8chr17:41567831chr17:55674229ENST00000262415+323756_936102.333333333333331221.0DomainHelicase C-terminal
HgeneDHX8chr17:41567831chr17:55674229ENST00000262415+323685_688102.333333333333331221.0MotifNote=DEAH box
HgeneDHX8chr17:41567831chr17:55674229ENST00000262415+323588_595102.333333333333331221.0Nucleotide bindingATP
TgeneMSI2chr17:41567831chr17:55674229ENST00000284073614110_187151.333333333333341951.0DomainRRM 2
TgeneMSI2chr17:41567831chr17:55674229ENST0000028407361421_111151.333333333333341951.0DomainRRM 1
TgeneMSI2chr17:41567831chr17:55674229ENST00000322684510110_187147.33333333333334252.0DomainRRM 2
TgeneMSI2chr17:41567831chr17:55674229ENST0000032268451021_111147.33333333333334252.0DomainRRM 1
TgeneMSI2chr17:41567831chr17:55674229ENST000005791802721_11147.333333333333336152.0DomainRRM 1


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>566_DHX8_41567831_MSI2_55674229_ranked_0.pdbDHX84156783141567831ENST00000579180MSI2chr1755674229+
MSAGCEEGGSGQAIAMAVAVAMAGALIGSEPGPAEELAKLEYLSLVSKVCTELDNHLGINDKDLAEFVISLAEKNTTFDTFKASLVKNGA
EFTDSLISNLLRLIQTMRPPAKPSTSKGFGFVTFENEDVVEKVCEIHFHEINNKMVECKKAQPKEVMFPPGTRGRARGLPYTMDAFMLGM
GMLGYPNFVATYGRGYPGFAPSYGYQFPGFPAAAYGPVAAAAVAAARGSVLNSYSAQPNFGAPASPAGSNPARPGGFPGANSPGPVADLY
312


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
DHX8_pLDDT.png
all structure
all structure
MSI2_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
DHX8
MSI2


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to DHX8-MSI2


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to DHX8-MSI2


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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