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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: 8244

FusionGeneSummary for CPLX1_GAK

check button Fusion gene summary
Fusion gene informationFusion gene name: CPLX1_GAK
Fusion gene ID: 8244
HgeneTgene
Gene symbol

CPLX1

GAK

Gene ID

10815

2580

Gene namecomplexin 1cyclin G associated kinase
SynonymsCPX-I|CPX1|EIEE63DNAJ26|DNAJC26
Cytomap

4p16.3

4p16.3

Type of geneprotein-codingprotein-coding
Descriptioncomplexin-1CPX Icomplexin Isynaphin 2cyclin-G-associated kinaseauxilin-2
Modification date2018052520180523
UniProtAcc

O14810

O14976

Ensembl transtripts involved in fusion geneENST00000304062, ENST00000505203, 
ENST00000314167, ENST00000511163, 
ENST00000509566, 
Fusion gene scores* DoF score1 X 1 X 1=14 X 5 X 4=80
# samples 14
** MAII scorelog2(1/1*10)=3.32192809488736log2(4/80*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CPLX1 [Title/Abstract] AND GAK [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
TgeneGAK

GO:0010977

negative regulation of neuron projection development

24510904


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
TCGARVLGGTCGA-S9-A6WE-01ACPLX1chr4

818280

-GAKchr4

845762

-
TCGALDLGGTCGA-S9-A6WE-01ACPLX1chr4

818280

-GAKchr4

844872

-
* 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
Frame-shiftENST00000304062ENST00000314167CPLX1chr4

818280

-GAKchr4

845762

-
Frame-shiftENST00000304062ENST00000511163CPLX1chr4

818280

-GAKchr4

845762

-
5CDS-5UTRENST00000304062ENST00000509566CPLX1chr4

818280

-GAKchr4

845762

-
Frame-shiftENST00000505203ENST00000314167CPLX1chr4

818280

-GAKchr4

845762

-
Frame-shiftENST00000505203ENST00000511163CPLX1chr4

818280

-GAKchr4

845762

-
5CDS-5UTRENST00000505203ENST00000509566CPLX1chr4

818280

-GAKchr4

845762

-
Frame-shiftENST00000304062ENST00000314167CPLX1chr4

818280

-GAKchr4

844872

-
Frame-shiftENST00000304062ENST00000511163CPLX1chr4

818280

-GAKchr4

844872

-
5CDS-5UTRENST00000304062ENST00000509566CPLX1chr4

818280

-GAKchr4

844872

-
Frame-shiftENST00000505203ENST00000314167CPLX1chr4

818280

-GAKchr4

844872

-
Frame-shiftENST00000505203ENST00000511163CPLX1chr4

818280

-GAKchr4

844872

-
5CDS-5UTRENST00000505203ENST00000509566CPLX1chr4

818280

-GAKchr4

844872

-

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FusionProtFeatures for CPLX1_GAK


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CPLX1

O14810

GAK

O14976

Positively regulates a late step in exocytosis ofvarious cytoplasmic vesicles, such as synaptic vesicles and othersecretory vesicles (PubMed:21785414). Organizes the SNAREs into across-linked zigzag topology that, when interposed between thevesicle and plasma membranes, is incompatible with fusion, therebypreventing SNAREs from releasing neurotransmitters until an actionpotential arrives at the synapse (PubMed:21785414). Also involvedin glucose-induced secretion of insulin by pancreatic beta-cells.Essential for motor behavior. {ECO:0000250|UniProtKB:P63040,ECO:0000269|PubMed:21785414}. Associates with cyclin G and CDK5. Seems to act as anauxilin homolog that is involved in the uncoating of clathrin-coated vesicles by Hsc70 in non-neuronal cells. Expressionoscillates slightly during the cell cycle, peaking at G1.{ECO:0000269|PubMed:10625686}.

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 CPLX1_GAK


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 CPLX1_GAK


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
CPLX1STX1A, SNAP25, VAMP2, FLNA, KHSRP, PPIA, SEC24C, STAM, GGA2, TACC3, DPY30, GLO1, NDRG3, PFDN5, S100A9, SGTA, UBE2V2, UBE2B, PSMD9, SNRPA, PSMD2, POMP, TAGLN2, RNF114, TRIP6, HBS1L, HN1, NEDD8, NENF, NUBP2, GINS3, IQCB1, AGTRAP, CMTM5, CPLX2, VAMP3, GYPBGAKUSO1, AXIN1, CDK5, CCNG1, ALK, ATP13A2, APP, LGR4, DMWD, STAMBP, NTRK1, PPM1B, AP2A1, AP2A2, AP2B1, CALM1, CALML3, CAPZB, AP2M1, CLTA, CLTB, CLTC, CPM, DAB2, DBN1, EPS15, PHKG2, PICALM, SEC16A, GTSE1, GOLGB1, HIP1, MYO1C, MYO6, PIK3C2A, PSMA5, SEC13, SP1, SPTAN1, CLTCL1, NUMB, TNK1, HIP1R, XPR1, SEC24C, CLINT1, FEM1B, TNK2, RBM14, KIF3A, SYNPO, CEP162, AAK1, EDRF1, PHGDH, CHMP4A, LIMA1, PLXNA3, BMP2K, KIDINS220, STAMBPL1, DENND1A, AFAP1, ZNF106, INF2, WNK1, CPSF7, PUS7L, PARP10, STON2, MISP, ACTRT1, FAM83B, FAM83H, FBXW7, GPX7, HSPA8, RABGEF1, HSPBP1, C5AR2, IARS2, CBLC, CLASRP, MPP5, FAM174A, TRIM25


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 CPLX1_GAK


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 CPLX1_GAK


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCPLX1C0005586Bipolar Disorder1CTD_human
HgeneCPLX1C0011570Mental Depression1PSYGENET
HgeneCPLX1C0011581Depressive disorder1PSYGENET
HgeneCPLX1C0033975Psychotic Disorders1CTD_human
HgeneCPLX1C0036341Schizophrenia1CTD_human
TgeneGAKC0030567Parkinson Disease1CTD_human