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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:DAG1-KPNA6 (FusionGDB2 ID:21269)

Fusion Gene Summary for DAG1-KPNA6

check button Fusion gene summary
Fusion gene informationFusion gene name: DAG1-KPNA6
Fusion gene ID: 21269
HgeneTgene
Gene symbol

DAG1

KPNA6

Gene ID

1605

23633

Gene namedystroglycan 1karyopherin subunit alpha 6
Synonyms156DAG|A3a|AGRNR|DAG|LGMDR16|MDDGA9|MDDGC7|MDDGC9IPOA7
Cytomap

3p21.31

1p35.2

Type of geneprotein-codingprotein-coding
Descriptiondystroglycandystroglycan 1 (dystrophin-associated glycoprotein 1)importin subunit alpha-7importin alpha 7 subunitimportin-alpha-S2karyopherin alpha 6 (importin alpha 7)
Modification date2020031320200313
UniProtAcc.

O60684

Ensembl transtripts involved in fusion geneENST00000515359, ENST00000308775, 
ENST00000541308, ENST00000539901, 
ENST00000545947, ENST00000538711, 
ENST00000479935, 		ENST00000373625, 
ENST00000537234, ENST00000469790, 
ENST00000545542, 
Fusion gene scores* DoF score9 X 8 X 6=4327 X 7 X 4=196
# samples 118
** MAII scorelog2(11/432*10)=-1.97352778863881
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(8/196*10)=-1.29278174922785
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DAG1 [Title/Abstract] AND KPNA6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDAG1(49507866)-KPNA6(32620189), # 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
HgeneDAG1

GO:0006509

membrane protein ectodomain proteolysis

19946898

HgeneDAG1

GO:0019048

modulation by virus of host morphology or physiology

16254364


check buttonFusion gene breakpoints across DAG1 (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 KPNA6 (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
ChimerDB4SARCTCGA-HS-A5N9-01ADAG1chr3

49507866

+KPNA6chr1

32620189

+


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Fusion Gene ORF analysis for DAG1-KPNA6

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
intron-3CDSENST00000515359ENST00000373625DAG1chr3

49507866

+KPNA6chr1

32620189

+
intron-5UTRENST00000515359ENST00000537234DAG1chr3

49507866

+KPNA6chr1

32620189

+
intron-3UTRENST00000515359ENST00000469790DAG1chr3

49507866

+KPNA6chr1

32620189

+
intron-3UTRENST00000515359ENST00000545542DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-3CDSENST00000308775ENST00000373625DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-5UTRENST00000308775ENST00000537234DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-3UTRENST00000308775ENST00000469790DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-3UTRENST00000308775ENST00000545542DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-3CDSENST00000541308ENST00000373625DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-5UTRENST00000541308ENST00000537234DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-3UTRENST00000541308ENST00000469790DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-3UTRENST00000541308ENST00000545542DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-3CDSENST00000539901ENST00000373625DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-5UTRENST00000539901ENST00000537234DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-3UTRENST00000539901ENST00000469790DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-3UTRENST00000539901ENST00000545542DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-3CDSENST00000545947ENST00000373625DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-5UTRENST00000545947ENST00000537234DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-3UTRENST00000545947ENST00000469790DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-3UTRENST00000545947ENST00000545542DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-3CDSENST00000538711ENST00000373625DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-5UTRENST00000538711ENST00000537234DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-3UTRENST00000538711ENST00000469790DAG1chr3

49507866

+KPNA6chr1

32620189

+
5UTR-3UTRENST00000538711ENST00000545542DAG1chr3

49507866

+KPNA6chr1

32620189

+
intron-3CDSENST00000479935ENST00000373625DAG1chr3

49507866

+KPNA6chr1

32620189

+
intron-5UTRENST00000479935ENST00000537234DAG1chr3

49507866

+KPNA6chr1

32620189

+
intron-3UTRENST00000479935ENST00000469790DAG1chr3

49507866

+KPNA6chr1

32620189

+
intron-3UTRENST00000479935ENST00000545542DAG1chr3

49507866

+KPNA6chr1

32620189

+

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 DAG1-KPNA6


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)
DAG1chr349507866+KPNA6chr132620188+4.59E-101
DAG1chr349507866+KPNA6chr132620188+4.59E-101

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.

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Fusion Protein Features for DAG1-KPNA6


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.KPNA6

O60684

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Functions in nuclear protein import as an adapter protein for nuclear receptor KPNB1. Binds specifically and directly to substrates containing either a simple or bipartite NLS motif. Docking of the importin/substrate complex to the nuclear pore complex (NPC) is mediated by KPNB1 through binding to nucleoporin FxFG repeats and the complex is subsequently translocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ran binds to importin-beta and the three components separate and importin-alpha and -beta are re-exported from the nucleus to the cytoplasm where GTP hydrolysis releases Ran from importin. The directionality of nuclear import is thought to be conferred by an asymmetric distribution of the GTP- and GDP-bound forms of Ran between the cytoplasm and nucleus. {ECO:0000269|PubMed:10523667}.

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 DAG1-KPNA6


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 DAG1-KPNA6


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 DAG1-KPNA6


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 DAG1-KPNA6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDAG1C3151184MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 96CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneDAG1C4225291MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 94GENOMICS_ENGLAND;UNIPROT
HgeneDAG1C0265221Walker-Warburg congenital muscular dystrophy3CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneDAG1C0023092Lassa Fever1CTD_human
HgeneDAG1C0033578Prostatic Neoplasms1CTD_human
HgeneDAG1C0376358Malignant neoplasm of prostate1CTD_human
HgeneDAG1C0686353Muscular Dystrophies, Limb-Girdle1GENOMICS_ENGLAND
HgeneDAG1C0699743Congenital muscular dystrophy (disorder)1GENOMICS_ENGLAND