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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: 24005

FusionGeneSummary for NEK1_RPS6KC1

check button Fusion gene summary
Fusion gene informationFusion gene name: NEK1_RPS6KC1
Fusion gene ID: 24005
HgeneTgene
Gene symbol

NEK1

RPS6KC1

Gene ID

4750

26750

Gene nameNIMA related kinase 1ribosomal protein S6 kinase C1
SynonymsALS24|NY-REN-55|SRPS2|SRPS2A|SRTD6RPK118|RSKL1|S6K-delta-1|S6PKh1|humS6PKh1
Cytomap

4q33

1q32.3

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-55ribosomal protein S6 kinase delta-152 kDa ribosomal protein S6 kinaseSPHK1-binding proteinribosomal S6 kinase-like protein with two PSK domains 118 kDa proteinribosomal protein S6 kinase, 52kDa, polypeptide 1
Modification date2018052320180519
UniProtAcc

Q96PY6

Q96S38

Ensembl transtripts involved in fusion geneENST00000439128, ENST00000511633, 
ENST00000510533, ENST00000507142, 
ENST00000512193, 		ENST00000543470, 
ENST00000366960, ENST00000366959, 
ENST00000543354, ENST00000490299, 
Fusion gene scores* DoF score3 X 3 X 2=184 X 4 X 2=32
# samples 46
** MAII scorelog2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(6/32*10)=0.906890595608518
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: NEK1 [Title/Abstract] AND RPS6KC1 [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


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
ChiTaRS3.1BI596518NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
ChiTaRS3.1BI596864NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
* 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
5UTR-3CDSENST00000439128ENST00000543470NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3CDSENST00000439128ENST00000366960NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3CDSENST00000439128ENST00000366959NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3UTRENST00000439128ENST00000543354NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3UTRENST00000439128ENST00000490299NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3CDSENST00000511633ENST00000543470NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3CDSENST00000511633ENST00000366960NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3CDSENST00000511633ENST00000366959NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3UTRENST00000511633ENST00000543354NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3UTRENST00000511633ENST00000490299NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3CDSENST00000510533ENST00000543470NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3CDSENST00000510533ENST00000366960NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3CDSENST00000510533ENST00000366959NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3UTRENST00000510533ENST00000543354NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3UTRENST00000510533ENST00000490299NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3CDSENST00000507142ENST00000543470NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3CDSENST00000507142ENST00000366960NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3CDSENST00000507142ENST00000366959NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3UTRENST00000507142ENST00000543354NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3UTRENST00000507142ENST00000490299NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3CDSENST00000512193ENST00000543470NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3CDSENST00000512193ENST00000366960NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3CDSENST00000512193ENST00000366959NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3UTRENST00000512193ENST00000543354NEK1chr4

170533170

-RPS6KC1chr1

213415910

+
5UTR-3UTRENST00000512193ENST00000490299NEK1chr4

170533170

-RPS6KC1chr1

213415910

+

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FusionProtFeatures for NEK1_RPS6KC1


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

Q96PY6

RPS6KC1

Q96S38

May be involved in transmitting sphingosine-1 phosphate(SPP)-mediated signaling into the cell (PubMed:12077123). Plays arole in the recruitment of PRDX3 to early endosomes(PubMed:15750338). {ECO:0000269|PubMed:12077123,ECO:0000269|PubMed:15750338}.

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 NEK1_RPS6KC1


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 NEK1_RPS6KC1


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
NEK1ZNF350, FEZ1, FEZ2, YWHAH, ATRX, TP53BP1, MRE11A, KIF3A, PPP2R5A, TSC2, CTNNAL1, EXOSC4, WDR83, VPS26B, SKAP1, TEKT4, KRAS, CEP104, CEP290, XPO1, TTC25, ALS2, CPNE2, KIF2B, CTDSP2, CAMK2D, VTN, C21orf2, NEK5, RPGRIP1L, SPATA7RPS6KC1SPHK1, HSP90AA1, PRDX3, DENND6A, IQGAP1, VPS39


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 NEK1_RPS6KC1


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 NEK1_RPS6KC1


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