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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: 21322

FusionGeneSummary for MCOLN2_CDK1

check button Fusion gene summary
Fusion gene informationFusion gene name: MCOLN2_CDK1
Fusion gene ID: 21322
HgeneTgene
Gene symbol

MCOLN2

CDK1

Gene ID

255231

983

Gene namemucolipin 2cyclin dependent kinase 1
SynonymsTRP-ML2|TRPML2CDC2|CDC28A|P34CDC2
Cytomap

1p22.3

10q21.2

Type of geneprotein-codingprotein-coding
Descriptionmucolipin-2transient receptor potential channel mucolipin 2cyclin-dependent kinase 1cell cycle controller CDC2cell division control protein 2 homologcell division cycle 2, G1 to S and G2 to Mcell division protein kinase 1p34 protein kinase
Modification date2018052320180523
UniProtAcc

Q8IZK6

P06493

Ensembl transtripts involved in fusion geneENST00000370608, ENST00000284027, 
ENST00000531325, 
ENST00000316629, 
ENST00000395284, ENST00000519760, 
ENST00000448257, ENST00000373809, 
Fusion gene scores* DoF score1 X 1 X 1=13 X 2 X 3=18
# samples 13
** MAII scorelog2(1/1*10)=3.32192809488736log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MCOLN2 [Title/Abstract] AND CDK1 [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
TgeneCDK1

GO:0018105

peptidyl-serine phosphorylation

11298763|19879842

TgeneCDK1

GO:0018107

peptidyl-threonine phosphorylation

11298763

TgeneCDK1

GO:0034501

protein localization to kinetochore

18195732

TgeneCDK1

GO:0043066

negative regulation of apoptotic process

11069302


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
TCGARVLUADTCGA-55-6971-01AMCOLN2chr1

85462479

-CDK1chr10

62539899

+
* 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-5UTRENST00000370608ENST00000316629MCOLN2chr1

85462479

-CDK1chr10

62539899

+
5CDS-5UTRENST00000370608ENST00000395284MCOLN2chr1

85462479

-CDK1chr10

62539899

+
5CDS-3UTRENST00000370608ENST00000519760MCOLN2chr1

85462479

-CDK1chr10

62539899

+
5CDS-5UTRENST00000370608ENST00000448257MCOLN2chr1

85462479

-CDK1chr10

62539899

+
5CDS-intronENST00000370608ENST00000373809MCOLN2chr1

85462479

-CDK1chr10

62539899

+
intron-5UTRENST00000284027ENST00000316629MCOLN2chr1

85462479

-CDK1chr10

62539899

+
intron-5UTRENST00000284027ENST00000395284MCOLN2chr1

85462479

-CDK1chr10

62539899

+
intron-3UTRENST00000284027ENST00000519760MCOLN2chr1

85462479

-CDK1chr10

62539899

+
intron-5UTRENST00000284027ENST00000448257MCOLN2chr1

85462479

-CDK1chr10

62539899

+
intron-intronENST00000284027ENST00000373809MCOLN2chr1

85462479

-CDK1chr10

62539899

+
5UTR-5UTRENST00000531325ENST00000316629MCOLN2chr1

85462479

-CDK1chr10

62539899

+
5UTR-5UTRENST00000531325ENST00000395284MCOLN2chr1

85462479

-CDK1chr10

62539899

+
5UTR-3UTRENST00000531325ENST00000519760MCOLN2chr1

85462479

-CDK1chr10

62539899

+
5UTR-5UTRENST00000531325ENST00000448257MCOLN2chr1

85462479

-CDK1chr10

62539899

+
5UTR-intronENST00000531325ENST00000373809MCOLN2chr1

85462479

-CDK1chr10

62539899

+

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FusionProtFeatures for MCOLN2_CDK1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MCOLN2

Q8IZK6

CDK1

P06493

Nonselective cation channel probably playing a role inthe regulation of membrane trafficking events. Acts as Ca(2+)-permeable cation channel with inwardly rectifying activity(PubMed:19940139, PubMed:19885840). May activate ARF6 and beinvolved in the trafficking of GPI-anchored cargo proteins to thecell surface via the ARF6-regulated recycling pathway(PubMed:17662026). May play a role in immune processes. Inadaptive immunity, TRPML2 and TRPML1 may play redundant roles inthe function of the specialized lysosomes of B cells (Bysimilarity). In the innate immune response, may play a role in theregulation of chemokine secretion and macrophage migration (Bysimilarity). Through a possible and probably tissue-specificheteromerization with MCOLN1 may be at least in part involved inmany lysosome-dependent cellular events (PubMed:19885840).{ECO:0000250|UniProtKB:Q8K595, ECO:0000269|PubMed:17662026,ECO:0000269|PubMed:19885840, ECO:0000269|PubMed:19940139,ECO:0000305}. Plays a key role in the control of the eukaryotic cellcycle by modulating the centrosome cycle as well as mitotic onset;promotes G2-M transition, and regulates G1 progress and G1-Stransition via association with multiple interphase cyclins.Required in higher cells for entry into S-phase and mitosis.Phosphorylates PARVA/actopaxin, APC, AMPH, APC, BARD1, Bcl-xL/BCL2L1, BRCA2, CALD1, CASP8, CDC7, CDC20, CDC25A, CDC25C,CC2D1A, CENPA, CSNK2 proteins/CKII, FZR1/CDH1, CDK7, CEBPB,CHAMP1, DMD/dystrophin, EEF1 proteins/EF-1, EZH2, KIF11/EG5, EGFR,FANCG, FOS, GFAP, GOLGA2/GM130, GRASP1, UBE2A/hHR6A, HIST1H1proteins/histone H1, HMGA1, HIVEP3/KRC, LMNA, LMNB, LMNC, LBR,LATS1, MAP1B, MAP4, MARCKS, MCM2, MCM4, MKLP1, MYB, NEFH, NFIC,NPC/nuclear pore complex, PITPNM1/NIR2, NPM1, NCL, NUCKS1,NPM1/numatrin, ORC1, PRKAR2A, EEF1E1/p18, EIF3F/p47, p53/TP53,NONO/p54NRB, PAPOLA, PLEC/plectin, RB1, UL40/R2, RAB4A, RAP1GAP,RCC1, RPS6KB1/S6K1, KHDRBS1/SAM68, ESPL1, SKI, BIRC5/survivin,STIP1, TEX14, beta-tubulins, MAPT/TAU, NEDD1, VIM/vimentin, TK1,FOXO1, RUNX1/AML1, SAMHD1, SIRT2 and RUNX2. CDK1/CDC2-cyclin-Bcontrols pronuclear union in interphase fertilized eggs. Essentialfor early stages of embryonic development. During G2 and earlymitosis, CDC25A/B/C-mediated dephosphorylation activatesCDK1/cyclin complexes which phosphorylate several substrates thattrigger at least centrosome separation, Golgi dynamics, nuclearenvelope breakdown and chromosome condensation. Once chromosomesare condensed and aligned at the metaphase plate, CDK1 activity isswitched off by WEE1- and PKMYT1-mediated phosphorylation to allowsister chromatid separation, chromosome decondensation,reformation of the nuclear envelope and cytokinesis. Inactivatedby PKR/EIF2AK2- and WEE1-mediated phosphorylation upon DNA damageto stop cell cycle and genome replication at the G2 checkpointthus facilitating DNA repair. Reactivated after successful DNArepair through WIP1-dependent signaling leading to CDC25A/B/C-mediated dephosphorylation and restoring cell cycle progression.In proliferating cells, CDK1-mediated FOXO1 phosphorylation at theG2-M phase represses FOXO1 interaction with 14-3-3 proteins andthereby promotes FOXO1 nuclear accumulation and transcriptionfactor activity, leading to cell death of postmitotic neurons. Thephosphorylation of beta-tubulins regulates microtubule dynamicsduring mitosis. NEDD1 phosphorylation promotes PLK1-mediated NEDD1phosphorylation and subsequent targeting of the gamma-tubulin ringcomplex (gTuRC) to the centrosome, an important step for spindleformation. In addition, CC2D1A phosphorylation regulates CC2D1Aspindle pole localization and association with SCC1/RAD21 andcentriole cohesion during mitosis. The phosphorylation of Bcl-xL/BCL2L1 after prolongated G2 arrest upon DNA damage triggersapoptosis. In contrast, CASP8 phosphorylation during mitosisprevents its activation by proteolysis and subsequent apoptosis.This phosphorylation occurs in cancer cell lines, as well as inprimary breast tissues and lymphocytes. EZH2 phosphorylationpromotes H3K27me3 maintenance and epigenetic gene silencing. CALD1phosphorylation promotes Schwann cell migration during peripheralnerve regeneration. CDK1-cyclin-B complex phosphorylates NCKAP5Land mediates its dissociation from centrosomes during mitosis(PubMed:26549230). {ECO:0000269|PubMed:16371510,ECO:0000269|PubMed:16407259, ECO:0000269|PubMed:16933150,ECO:0000269|PubMed:17459720, ECO:0000269|PubMed:18356527,ECO:0000269|PubMed:18480403, ECO:0000269|PubMed:19509060,ECO:0000269|PubMed:19917720, ECO:0000269|PubMed:20171170,ECO:0000269|PubMed:20360007, ECO:0000269|PubMed:20395957,ECO:0000269|PubMed:20935635, ECO:0000269|PubMed:20937773,ECO:0000269|PubMed:21063390, ECO:0000269|PubMed:23601106,ECO:0000269|PubMed:23602554, ECO:0000269|PubMed:25556658,ECO:0000269|PubMed:26549230}. (Microbial infection) Acts as a receptor for hepatitis Cvirus (HCV) in hepatocytes and facilitates its cell entry.{ECO:0000269|PubMed:21516087}.

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 MCOLN2_CDK1


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 MCOLN2_CDK1


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
MCOLN2MCOLN3CDK1FANCG, GADD45A, FANCA, FANCC, DAB2, FEN1, CCNA2, NSFL1C, CCNE1, CCNB1, CCNA1, LYN, LATS1, CDKN3, CNOT7, TP53, CUX1, FYN, MKI67, TSC1, SPAG5, BCL2, LZTS1, BRCA1, SFN, PRKCB, ZBTB16, CDC25C, GADD45B, GADD45G, CCNF, MAP4, CIITA, CDKN1A, USP19, USP32, USP45, UIMC1, HMGB1, CDCA2, DLGAP5, MGMT, TSPYL2, FOXM1, KMT2E, EZH2, RYK, CSNK2A1, ARID4A, HIST1H1D, PPP2R1B, PPP2R1A, HDAC5, RUNX1, UHRF2, KAT5, CCND1, HDGF, SSBP1, NCAPD2, NCAPG, NCAPH, HIST1H1B, HIST1H1A, MARCKS, CDKN1B, PSMA6, RB1, SP1, RPA1, KIF26B, FZR1, UBE2I, PPP1CA, PPP1CC, FBXO5, CDK2, H1F0, CKS1B, CKS2, CSN2, KCND3, CDT1, BUB1, CDK1, REPS2, EPN1, MBP, HTRA2, KIF11, EGFR, WEE1, TFDP1, E2F1, RACGAP1, PRC1, LMNB1, CCP110, IL16, VCP, EEF2K, PML, HIST1H4A, FN1, VCAM1, CDC6, ITGA4, CDK7, UCHL1, CDC25B, CDCA5, RGCC, SOX2, HMGA1, TP53BP1, POLA1, DCTN6, PTMA, BAG3, SQSTM1, IL3RA, CD8A, CXCR1, JAK3, RELB, TNNC1, PAK6, MLKL, CCNB2, PKMYT1, FBXO6, ZRANB2, CDC37, STAU1, USP16, SAMHD1, HSP90AA1, HSPA4, ABL1, SIRT1, BTRC, HUWE1, EP300, NCL, CUL7, OBSL1, CCDC8, HIST1H2AB, HIST1H2BB, RNF2, CDC20, CCNB1IP1, BARD1, CCND3, CDK3, SKP2, ICK, CDK17, CDKN1C, GMNN, NTRK1, CCNK, HSPB1, PCBP1, PPM1B, PRDX2, IFI16, KIAA0753, CCDC14, ATP2A2, SORT1, CHEK1, MVD, TCP1, CDK13, ATP6V0D1, DLG5, CCT7, CCT4, ASCC3, CCT5, CUTA, TMEM165, C19orf52, ESCO1, MSI2, GATA2, ANAPC4, CCDC6, GLI1, NF2, SNW1, USP22, SLBP, ZNF746, CCDC102B, IKZF5, AAR2, DCD, ALYREF, ERH, JUP, TXN, SLC25A5, DSP, RBMXL2, FBL, SAFB, HRNR, MOB2, LYZ, SCYL2, FLG2, GFAP, RNPS1, KPRP, COX15, DLD, DLST, DNM1L, HSD17B10, SDHA, VDAC1, BOLA2, BOLA2B, BCL2L1, MDM4, FOXA1, TRIM25, DANCR, G3BP1, TES, STK3, PTPN6


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 MCOLN2_CDK1


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 MCOLN2_CDK1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCDK1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneCDK1C0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneCDK1C1306067Drug-induced paranoid state1PSYGENET