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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 22031

FusionGeneSummary for MIR548H3_NUP93

check button Fusion gene summary
Fusion gene informationFusion gene name: MIR548H3_NUP93
Fusion gene ID: 22031
HgeneTgene
Gene symbol

MIR548H3

NUP93

Gene ID

100302287

9688

Gene namemicroRNA 548h-3nucleoporin 93
SynonymsMIR548H-3|MIRN548H3|hsa-mir-548h-3NIC96
Cytomap

17p12

16q13

Type of genencRNAprotein-coding
Description-nuclear pore complex protein Nup9393 kDa nucleoporinnucleoporin 93kDanucleoporin Nup93
Modification date2018032920180523
UniProtAcc

Q8N1F7

Ensembl transtripts involved in fusion geneENST00000408771, ENST00000308159, 
ENST00000569842, ENST00000564887, 
ENST00000569595, ENST00000542526, 
Fusion gene scores* DoF score3 X 3 X 1=98 X 8 X 5=320
# samples 37
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/320*10)=-2.1926450779424
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MIR548H3 [Title/Abstract] AND NUP93 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
TgeneNUP93

GO:0006998

nuclear envelope organization

26878725

TgeneNUP93

GO:0051292

nuclear pore complex assembly

26878725

TgeneNUP93

GO:0060391

positive regulation of SMAD protein signal transduction

26878725

TgeneNUP93

GO:0060395

SMAD protein signal transduction

26878725


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AU124982MIR548H3chr6

97708182

-NUP93chr16

56839451

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-3CDSENST00000408771ENST00000308159MIR548H3chr6

97708182

-NUP93chr16

56839451

+
intron-3CDSENST00000408771ENST00000569842MIR548H3chr6

97708182

-NUP93chr16

56839451

+
intron-3CDSENST00000408771ENST00000564887MIR548H3chr6

97708182

-NUP93chr16

56839451

+
intron-3UTRENST00000408771ENST00000569595MIR548H3chr6

97708182

-NUP93chr16

56839451

+
intron-3UTRENST00000408771ENST00000542526MIR548H3chr6

97708182

-NUP93chr16

56839451

+

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FusionProtFeatures for MIR548H3_NUP93


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MIR548H3

NUP93

Q8N1F7

Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. Plays a role in the nuclear pore complex (NPC) assemblyand/or maintenance (PubMed:9348540). May anchor nucleoporins, butnot NUP153 and TPR, to the NPC. During renal development,regulates podocyte migration and proliferation through SMAD4signaling (PubMed:26878725). {ECO:0000269|PubMed:15229283,ECO:0000269|PubMed:15703211, ECO:0000269|PubMed:26878725,ECO:0000269|PubMed:9348540}.

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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FusionGeneSequence for MIR548H3_NUP93


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MIR548H3_NUP93


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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RelatedDrugs for MIR548H3_NUP93


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MIR548H3_NUP93


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNUP93C1868672NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE1CTD_human
TgeneNUP93C4225166NEPHROTIC SYNDROME, TYPE 121UNIPROT