FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 24003

FusionGeneSummary for NEK1_APPL1

check button Fusion gene summary
Fusion gene informationFusion gene name: NEK1_APPL1
Fusion gene ID: 24003
HgeneTgene
Gene symbol

NEK1

APPL1

Gene ID

4750

26060

Gene nameNIMA related kinase 1adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1
SynonymsALS24|NY-REN-55|SRPS2|SRPS2A|SRTD6APPL|DIP13alpha|MODY14
Cytomap

4q33

3p14.3

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase Nek1NIMA (never in mitosis gene a)-related kinase 1never in mitosis A-related kinase 1nimA-related protein kinase 1protein-serine/threonine kinaserenal carcinoma antigen NY-REN-55DCC-interacting protein 13-alphaAKT2 interactoradapter protein containing PH domain, PTB domain and leucine zipper motif 1adaptor protein containing pH domain, PTB domain and leucine zipper motif 1adaptor protein, phosphotyrosine interaction, PH domai
Modification date2018052320180528
UniProtAcc

Q96PY6

Q9UKG1

Ensembl transtripts involved in fusion geneENST00000439128, ENST00000511633, 
ENST00000510533, ENST00000507142, 
ENST00000512193, 
ENST00000288266, 
Fusion gene scores* DoF score3 X 3 X 2=183 X 3 X 2=18
# samples 43
** MAII scorelog2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NEK1 [Title/Abstract] AND APPL1 [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
HgeneNEK1

GO:0006468

protein phosphorylation

19158487

TgeneAPPL1

GO:0008283

cell proliferation

15016378


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
ChiTaRS3.1N56837NEK1chr4

170446574

-APPL1chr3

57306892

+
* 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-3UTRENST00000439128ENST00000288266NEK1chr4

170446574

-APPL1chr3

57306892

+
intron-3UTRENST00000511633ENST00000288266NEK1chr4

170446574

-APPL1chr3

57306892

+
intron-3UTRENST00000510533ENST00000288266NEK1chr4

170446574

-APPL1chr3

57306892

+
intron-3UTRENST00000507142ENST00000288266NEK1chr4

170446574

-APPL1chr3

57306892

+
intron-3UTRENST00000512193ENST00000288266NEK1chr4

170446574

-APPL1chr3

57306892

+

Top

FusionProtFeatures for NEK1_APPL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NEK1

Q96PY6

APPL1

Q9UKG1

Adapter protein that interacts with proteins involved indifferent cellular signaling pathways. Required for the regulationof cell proliferation in response to extracellular signals from anearly endosomal compartment. Links Rab5 to nuclear signaltransduction. Involved in the regulation of the insulin receptorsignaling pathway. {ECO:0000269|PubMed:10490823,ECO:0000269|PubMed:15016378, ECO:0000269|PubMed:26073777}.

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


Top

FusionGeneSequence for NEK1_APPL1


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).

Top

FusionGenePPI for NEK1_APPL1


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


Top

RelatedDrugs for NEK1_APPL1


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

Top

RelatedDiseases for NEK1_APPL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNEK1C0002736Amyotrophic Lateral Sclerosis2CTD_human
HgeneNEK1C0036996Short Rib-Polydactyly Syndrome2CTD_human
HgeneNEK1C0024507Majewski Syndrome1ORPHANET;UNIPROT
TgeneAPPL1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneAPPL1C4225299MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 141UNIPROT