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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:DTNBP1-DNAH8 (FusionGDB2 ID:HG84062TG1769)

Fusion Gene Summary for DTNBP1-DNAH8

check button Fusion gene summary
Fusion gene informationFusion gene name: DTNBP1-DNAH8
Fusion gene ID: hg84062tg1769
HgeneTgene
Gene symbol

DTNBP1

DNAH8

Gene ID

84062

1769

Gene namedystrobrevin binding protein 1dynein axonemal heavy chain 8
SynonymsBLOC1S8|DBND|HPS7|My031|SDYATPase|hdhc9
Cytomap('DTNBP1')('DNAH8')

6p22.3

6p21.2

Type of geneprotein-codingprotein-coding
DescriptiondysbindinBLOC-1 subunit 8Hermansky-Pudlak syndrome 7 proteinbiogenesis of lysosomal organelles complex-1, subunit 8biogenesis of lysosome-related organelles complex 1 subunit 8dysbindin-1dynein heavy chain 8, axonemalaxonemal beta dynein heavy chain 8ciliary dynein heavy chain 8dynein, axonemal, heavy polypeptide 8
Modification date2020031320200327
UniProtAcc.

Q96JB1

Ensembl transtripts involved in fusion geneENST00000338950, ENST00000344537, 
ENST00000355917, ENST00000462989, 
Fusion gene scores* DoF score6 X 4 X 4=9611 X 13 X 7=1001
# samples 613
** MAII scorelog2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/1001*10)=-2.94485844580754
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DTNBP1 [Title/Abstract] AND DNAH8 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDTNBP1(15615498)-DNAH8(38979991), # 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
HgeneDTNBP1

GO:0031175

neuron projection development

16980328



check button Fusion gene information
* 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
ChimerDB4BRCATCGA-D8-A1JP-01ADTNBP1chr6

15615498

-DNAH8chr6

38979991

+


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Fusion Gene ORF analysis for DTNBP1-DNAH8

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-intronENST00000338950ENST00000359357DTNBP1chr6

15615498

-DNAH8chr6

38979991

+
5CDS-intronENST00000338950ENST00000441566DTNBP1chr6

15615498

-DNAH8chr6

38979991

+
5CDS-intronENST00000338950ENST00000449981DTNBP1chr6

15615498

-DNAH8chr6

38979991

+
5CDS-intronENST00000344537ENST00000359357DTNBP1chr6

15615498

-DNAH8chr6

38979991

+
5CDS-intronENST00000344537ENST00000441566DTNBP1chr6

15615498

-DNAH8chr6

38979991

+
5CDS-intronENST00000344537ENST00000449981DTNBP1chr6

15615498

-DNAH8chr6

38979991

+
5CDS-intronENST00000355917ENST00000359357DTNBP1chr6

15615498

-DNAH8chr6

38979991

+
5CDS-intronENST00000355917ENST00000441566DTNBP1chr6

15615498

-DNAH8chr6

38979991

+
5CDS-intronENST00000355917ENST00000449981DTNBP1chr6

15615498

-DNAH8chr6

38979991

+
intron-intronENST00000462989ENST00000359357DTNBP1chr6

15615498

-DNAH8chr6

38979991

+
intron-intronENST00000462989ENST00000441566DTNBP1chr6

15615498

-DNAH8chr6

38979991

+
intron-intronENST00000462989ENST00000449981DTNBP1chr6

15615498

-DNAH8chr6

38979991

+

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 DTNBP1-DNAH8


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)
DTNBP1chr615615497-DNAH8chr638979990+0.0002159660.99978405
DTNBP1chr615615497-DNAH8chr638979990+0.0002159660.99978405


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 DTNBP1-DNAH8


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/:15615498/:38979991)
- 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
.DNAH8

Q96JB1

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Force generating protein component of the outer dynein arms (ODAs) in the sperm flagellum. Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Involved in sperm motility; implicated in sperm flagellar assembly. {ECO:0000250, ECO:0000305|PubMed:31178125}.

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 DTNBP1-DNAH8


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 DTNBP1-DNAH8


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 DTNBP1-DNAH8


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 DTNBP1-DNAH8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDTNBP1C0005586Bipolar Disorder5PSYGENET
HgeneDTNBP1C0041696Unipolar Depression5PSYGENET
HgeneDTNBP1C1269683Major Depressive Disorder5PSYGENET
HgeneDTNBP1C0011570Mental Depression4PSYGENET
HgeneDTNBP1C0011581Depressive disorder4PSYGENET
HgeneDTNBP1C0525045Mood Disorders3PSYGENET
HgeneDTNBP1C0270458Severe major depression with psychotic features2PSYGENET
HgeneDTNBP1C3279756HERMANSKY-PUDLAK SYNDROME 72GENOMICS_ENGLAND;ORPHANET
HgeneDTNBP1C0004930Behavior Disorders1CTD_human
HgeneDTNBP1C0004936Mental disorders1CTD_human
HgeneDTNBP1C0033937Psychoses, Drug1PSYGENET
HgeneDTNBP1C0036341Schizophrenia1CTD_human
HgeneDTNBP1C0376338Diagnosis, Psychiatric1CTD_human
HgeneDTNBP1C4046029Mental Disorders, Severe1CTD_human
TgeneC0005586Bipolar Disorder4PSYGENET
TgeneC0338831Manic2PSYGENET
TgeneC0009171Cocaine Abuse1CTD_human
TgeneC0013146Drug abuse1CTD_human
TgeneC0013170Drug habituation1CTD_human
TgeneC0013222Drug Use Disorders1CTD_human
TgeneC0029231Organic Mental Disorders, Substance-Induced1CTD_human
TgeneC0038580Substance Dependence1CTD_human
TgeneC0038586Substance Use Disorders1CTD_human
TgeneC0236736Cocaine-Related Disorders1CTD_human
TgeneC0236969Substance-Related Disorders1CTD_human
TgeneC0600427Cocaine Dependence1CTD_human
TgeneC0740858Substance abuse problem1CTD_human
TgeneC1456784Paranoia1CTD_human
TgeneC1510472Drug Dependence1CTD_human
TgeneC4316881Prescription Drug Abuse1CTD_human