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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: 19178

FusionGeneSummary for KPNA4_IFT80

check button Fusion gene summary
Fusion gene informationFusion gene name: KPNA4_IFT80
Fusion gene ID: 19178
HgeneTgene
Gene symbol

KPNA4

IFT80

Gene ID

3840

57560

Gene namekaryopherin subunit alpha 4intraflagellar transport 80
SynonymsIPOA3|QIP1|SRP3ATD2|SRTD2|WDR56
Cytomap

3q25.33

3q25.33

Type of geneprotein-codingprotein-coding
Descriptionimportin subunit alpha-3importin alpha Q1importin subunit alpha-4karyopherin alpha 4 (importin alpha 3)intraflagellar transport protein 80 homologWD repeat domain 56WD repeat-containing protein 56intraflagellar transport 80 homolog
Modification date2018052320180523
UniProtAcc

O00629

Q9P2H3

Ensembl transtripts involved in fusion geneENST00000334256, ENST00000469804, 
ENST00000326448, ENST00000483465, 
ENST00000496589, ENST00000477495, 
Fusion gene scores* DoF score8 X 6 X 6=2883 X 3 X 3=27
# samples 104
** MAII scorelog2(10/288*10)=-1.52606881166759
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: KPNA4 [Title/Abstract] AND IFT80 [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

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
TCGALDHNSCTCGA-CV-7413-01AKPNA4chr3

160283002

-IFT80chr3

160102434

-
TCGALDLUSCTCGA-34-5236-01AKPNA4chr3

160283002

-IFT80chr3

160102434

-
* 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
5CDS-5UTRENST00000334256ENST00000326448KPNA4chr3

160283002

-IFT80chr3

160102434

-
5CDS-intronENST00000334256ENST00000483465KPNA4chr3

160283002

-IFT80chr3

160102434

-
5CDS-5UTRENST00000334256ENST00000496589KPNA4chr3

160283002

-IFT80chr3

160102434

-
5CDS-5UTRENST00000334256ENST00000477495KPNA4chr3

160283002

-IFT80chr3

160102434

-
5UTR-5UTRENST00000469804ENST00000326448KPNA4chr3

160283002

-IFT80chr3

160102434

-
5UTR-intronENST00000469804ENST00000483465KPNA4chr3

160283002

-IFT80chr3

160102434

-
5UTR-5UTRENST00000469804ENST00000496589KPNA4chr3

160283002

-IFT80chr3

160102434

-
5UTR-5UTRENST00000469804ENST00000477495KPNA4chr3

160283002

-IFT80chr3

160102434

-

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FusionProtFeatures for KPNA4_IFT80


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
KPNA4

O00629

IFT80

Q9P2H3

Functions in nuclear protein import as an adapterprotein for nuclear receptor KPNB1. Binds specifically anddirectly to substrates containing either a simple or bipartite NLSmotif. Docking of the importin/substrate complex to the nuclearpore complex (NPC) is mediated by KPNB1 through binding tonucleoporin FxFG repeats and the complex is subsequentlytranslocated through the pore by an energy requiring, Ran-dependent mechanism. At the nucleoplasmic side of the NPC, Ranbinds to importin-beta and the three components separate andimportin-alpha and -beta are re-exported from the nucleus to thecytoplasm where GTP hydrolysis releases Ran from importin. Thedirectionality of nuclear import is thought to be conferred by anasymmetric distribution of the GTP- and GDP-bound forms of Ranbetween the cytoplasm and nucleus. In vitro, mediates the nuclearimport of human cytomegalovirus UL84 by recognizing a non-classical NLS. In vitro, mediates the nuclear import of humancytomegalovirus UL84 by recognizing a non-classical NLS. Component of the intraflagellar transport (IFT) complexB, which is essential for the development and maintenance ofmotile and sensory cilia. {ECO:0000269|PubMed:17468754}.

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 KPNA4_IFT80


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 KPNA4_IFT80


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
KPNA4RECQL, ARRB2, TGM2, CSE1L, KPNB1, RAC1, RCC1, H3F3A, TP53, MYC, CTCF, CUL4B, CDKN1B, EXO1, ELAVL1, PARD3, CUL3, DAXX, APP, AICDA, CBX5, CSNK2A1, NACC1, SOX2, HDAC1, ACLY, KPNA2, LIN28A, HSF1, HNRNPC, PLAA, NUP50, MAT2B, CYHR1, MTA1, PHF20L1, IER2, UNK, ACTR1A, ACTR1B, CANX, CLGN, COPB1, HSP90B1, IPO9, AHSA1, CCT2, CCT3, CCT6A, CCT6B, CCT7, CCT8, DNAJA1, KPNA3, LMNB1, MCM4, PC, PRPF8, UQCRC2, SEC63, KIF22, NCBP1, NUP153, NCBP2, C10orf12, NUP107, MYH7B, CTDSPL2, MECP2, B2M, MRGBP, RAN, SOST, CFAP20, FOXA1, WT1, LMNA, GTF2IRD1IFT80PLXNA2, IFT57, CORO1A, IFT52, IFT88, LCA5, UBXN10, TTC30A, TTC30B, FGF8, IFT172, IFT20, TRAF3IP1, CLUAP1, IFT74, IFT27, IFT22, IFT46, NUDC, IFT81, TTC26, HSPB11


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 KPNA4_IFT80


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 KPNA4_IFT80


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneIFT80C0004044Asphyxia1CTD_human
TgeneIFT80C0005941Bone Diseases, Developmental1CTD_human
TgeneIFT80C0035229Respiratory Insufficiency1CTD_human
TgeneIFT80C0035304Retinal Degeneration1CTD_human
TgeneIFT80C0039978Thoracic Diseases1CTD_human
TgeneIFT80C0152427Polydactyly1CTD_human
TgeneIFT80C1691228Cystic Kidney Diseases1CTD_human
TgeneIFT80C1970005Asphyxiating Thoracic Dystrophy 21CTD_human;UNIPROT