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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: 24021

FusionGeneSummary for NEK9_TMED10

check button Fusion gene summary
Fusion gene informationFusion gene name: NEK9_TMED10
Fusion gene ID: 24021
HgeneTgene
Gene symbol

NEK9

TMED10

Gene ID

91754

10972

Gene nameNIMA related kinase 9transmembrane p24 trafficking protein 10
SynonymsAPUG|LCCS10|NC|NERCC|NERCC1P24(DELTA)|S31I125|S31III125|TMP21|Tmp-21-I|p23|p24d1
Cytomap

14q24.3

14q24.3

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase Nek9NIMA (never in mitosis gene a)- related kinase 9nercc1 kinasenimA-related protein kinase 9transmembrane emp24 domain-containing protein 1021 kDa transmembrane trafficking proteinp24 family protein delta-1p24deltap24delta1testicular tissue protein Li 206transmembrane emp24-like trafficking protein 10transmembrane protein Tmp21
Modification date2018052220180523
UniProtAcc

Q8TD19

P49755

Ensembl transtripts involved in fusion geneENST00000238616, ENST00000555763, 
ENST00000303575, ENST00000557670, 
Fusion gene scores* DoF score2 X 5 X 2=206 X 4 X 4=96
# samples 56
** MAII scorelog2(5/20*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/96*10)=-0.678071905112638
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NEK9 [Title/Abstract] AND TMED10 [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
TgeneTMED10

GO:0006886

intracellular protein transport

20427317

TgeneTMED10

GO:0035964

COPI-coated vesicle budding

10052452


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
TCGALDBRCATCGA-B6-A0RT-01ANEK9chr14

75593406

-TMED10chr14

75602589

-
* 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
In-frameENST00000238616ENST00000303575NEK9chr14

75593406

-TMED10chr14

75602589

-
5CDS-5UTRENST00000238616ENST00000557670NEK9chr14

75593406

-TMED10chr14

75602589

-
intron-3CDSENST00000555763ENST00000303575NEK9chr14

75593406

-TMED10chr14

75602589

-
intron-5UTRENST00000555763ENST00000557670NEK9chr14

75593406

-TMED10chr14

75602589

-

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FusionProtFeatures for NEK9_TMED10


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NEK9

Q8TD19

TMED10

P49755

Pleiotropic regulator of mitotic progression,participating in the control of spindle dynamics and chromosomeseparation. Phosphorylates different histones, myelin basicprotein, beta-casein, and BICD2. Phosphorylates histone H3 onserine and threonine residues and beta-casein on serine residues.Important for G1/S transition and S phase progression.Phosphorylates NEK6 and NEK7 and stimulates their activity byreleasing the autoinhibitory functions of Tyr-108 and Tyr-97respectively. {ECO:0000269|PubMed:12840024,ECO:0000269|PubMed:14660563, ECO:0000269|PubMed:19941817}. Involved in vesicular protein trafficking. Mainlyfunctions in the early secretory pathway. Thought to act as cargoreceptor at the lumenal side for incorporation of secretory cargomolecules into transport vesicles and to be involved in vesiclecoat formation at the cytoplasmic side. In COPII vesicle-mediatedanterograde transport involved in the transport of GPI-anchoredproteins and proposed to act together with TMED2 as their cargoreceptor; the function specifically implies SEC24C and SEC24D ofthe COPII vesicle coat and lipid raft-like microdomains of the ER.Recognizes GPI anchors structural remodeled in the ER by PGAP1 andMPPE1 (By similarity). In COPI vesicle-mediated retrogradetransport involved in the biogenesis of COPI vesicles and vesiclecoat recruitment. On Golgi membranes, acts as primary receptor forARF1-GDP which is involved in COPI-vesicle formation. Increasescoatomer-dependent GTPase-activating activity of ARFGAP2. Involvedin trafficking of G protein-coupled receptors (GPCRs). RegulatesF2LR1, OPRM1 and P2RY4 exocytic trafficking from the Golgi to theplasma membrane thus contributing to receptor resensitization.Involved in trafficking of amyloid beta A4 protein and solubleAPP-beta release (independent of modulation of gamma-secretaseactivity). As part of the presenilin-dependent gamma-secretasecomplex regulates gamma-cleavages of the amyloid beta A4 proteinto yield amyloid-beta 40 (Abeta40). Involved in organization ofthe Golgi apparatus. {ECO:0000250, ECO:0000269|PubMed:10052452,ECO:0000269|PubMed:11726511, ECO:0000269|PubMed:16641999,ECO:0000269|PubMed:17288597, ECO:0000269|PubMed:19296914,ECO:0000269|PubMed:20427317, ECO:0000269|PubMed:21219331}.

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
HgeneNEK9chr14:75593406chr14:75602589ENST00000238616-12258_6673980Nucleotide bindingATP
TgeneTMED10chr14:75593406chr14:75602589ENST00000303575-25211_219137220MotifNote=COPI vesicle coat-binding
TgeneTMED10chr14:75593406chr14:75602589ENST00000303575-25147_178137220RegionNote=Required for TMED10 and TMED2 cis-Golgi network localization
TgeneTMED10chr14:75593406chr14:75602589ENST00000303575-25186_206137220TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNEK9chr14:75593406chr14:75602589ENST00000238616-122892_93973980Coiled coilOntology_term=ECO:0000255
HgeneNEK9chr14:75593406chr14:75602589ENST00000238616-122752_76073980Compositional biasNote=Poly-Gly
HgeneNEK9chr14:75593406chr14:75602589ENST00000238616-122765_88873980Compositional biasNote=Pro/Ser/Thr-rich
HgeneNEK9chr14:75593406chr14:75602589ENST00000238616-12252_30873980DomainProtein kinase
HgeneNEK9chr14:75593406chr14:75602589ENST00000238616-122388_44473980RepeatNote=RCC1 1
HgeneNEK9chr14:75593406chr14:75602589ENST00000238616-122445_49873980RepeatNote=RCC1 2
HgeneNEK9chr14:75593406chr14:75602589ENST00000238616-122499_55073980RepeatNote=RCC1 3
HgeneNEK9chr14:75593406chr14:75602589ENST00000238616-122551_61573980RepeatNote=RCC1 4
HgeneNEK9chr14:75593406chr14:75602589ENST00000238616-122616_66873980RepeatNote=RCC1 5
HgeneNEK9chr14:75593406chr14:75602589ENST00000238616-122669_72673980RepeatNote=RCC1 6
TgeneTMED10chr14:75593406chr14:75602589ENST00000303575-2541_193137220DomainGOLD
TgeneTMED10chr14:75593406chr14:75602589ENST00000303575-2532_185137220Topological domainLumenal


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FusionGeneSequence for NEK9_TMED10


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 NEK9_TMED10


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
NEK9NEK6, GABARAPL2, SSRP1, NEK7, RAN, GABARAPL1, DYNLL1, CHEK1, NSMAF, MYC, HSP90AA1, CAP1, SPDL1, MCM5, REPIN1, MDM2, HUWE1, MAFF, NTRK1, CSN2, NEK8, BICD2, MED4, XPO1, BAG3, TUBA1C, ATOH1, RNF19B, DYNLL2TMED10GORASP2, RYK, CDK2, COPA, COPB1, COPB2, COPG1, ARCN1, COPE, COPZ1, TMED9, SEC22B, VAMP2, PTRF, NIT2, S100A16, PRDX6, EIF3C, VCP, ATF2, SEC23B, UBL4A, DHODH, FBXO6, ASB8, RNF2, TMED1, GOLGB1, TMED4, TMED2, TMED7, TMED3, TMED5, EMC7, EPHX1, LMAN1, LMAN2, NAGLU, KRAS, COPG2, TCTN1, RAB5C, CDKN2AIP, RAB1A, TSSC1, LIPG, FGF3, PTPRO, COX15, HSD17B10, PDHA1, SDHA, TRIM25


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneTMED10chr14:75593406chr14:75602589ENST00000303575-25207_219137220ARF1
TgeneTMED10chr14:75593406chr14:75602589ENST00000303575-25204_219137220COPG1


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneNEK9chr14:75593406chr14:75602589ENST00000238616-122732_89173980NEK6


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for NEK9_TMED10


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 NEK9_TMED10


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNEK9C3280309ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY1UNIPROT