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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: 6363

FusionGeneSummary for CDC42BPG_EHD1

check button Fusion gene summary
Fusion gene informationFusion gene name: CDC42BPG_EHD1
Fusion gene ID: 6363
HgeneTgene
Gene symbol

CDC42BPG

EHD1

Gene ID

55561

10938

Gene nameCDC42 binding protein kinase gammaEH domain containing 1
SynonymsDMPK2|HSMDPKIN|KAPPA-200|MRCKG|MRCKgammaH-PAST|HPAST1|PAST|PAST1
Cytomap

11q13.1

11q13.1

Type of geneprotein-codingprotein-coding
Descriptionserine/threonine-protein kinase MRCK gammaCDC42 binding protein kinase gamma (DMPK-like)DMPK-like gammaMRCK gammamyotonic dystrophy kinase-related CDC42-binding kinase gammamyotonic dystrophy protein kinase like proteinmyotonic dystrophy protein kinEH domain-containing protein 1PAST homolog 1testilin
Modification date2018051920180522
UniProtAcc

Q6DT37

Q9H4M9

Ensembl transtripts involved in fusion geneENST00000342711, ENST00000491280, 
ENST00000320631, ENST00000359393, 
ENST00000488711, 
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: CDC42BPG [Title/Abstract] AND EHD1 [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
HgeneCDC42BPG

GO:0006468

protein phosphorylation

15194684


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
TCGARVBLCATCGA-2F-A9KT-01ACDC42BPGchr11

64611882

-EHD1chr11

64627808

-
* 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-shiftENST00000342711ENST00000320631CDC42BPGchr11

64611882

-EHD1chr11

64627808

-
Frame-shiftENST00000342711ENST00000359393CDC42BPGchr11

64611882

-EHD1chr11

64627808

-
5CDS-intronENST00000342711ENST00000488711CDC42BPGchr11

64611882

-EHD1chr11

64627808

-
intron-3CDSENST00000491280ENST00000320631CDC42BPGchr11

64611882

-EHD1chr11

64627808

-
intron-3CDSENST00000491280ENST00000359393CDC42BPGchr11

64611882

-EHD1chr11

64627808

-
intron-intronENST00000491280ENST00000488711CDC42BPGchr11

64611882

-EHD1chr11

64627808

-

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FusionProtFeatures for CDC42BPG_EHD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CDC42BPG

Q6DT37

EHD1

Q9H4M9

May act as a downstream effector of CDC42 incytoskeletal reorganization. Contributes to the actomyosincontractility required for cell invasion, through the regulationof MYPT1 and thus MLC2 phosphorylation (By similarity).{ECO:0000250|UniProtKB:Q5VT25, ECO:0000269|PubMed:15194684}. ATP- and membrane-binding protein that controls membranereorganization/tubulation upon ATP hydrolysis. In vitro causesvesiculation of endocytic membranes (PubMed:24019528). Acts inearly endocytic membrane fusion and membrane trafficking ofrecycling endosomes (PubMed:15020713, PubMed:17233914,PubMed:20801876). Recruited to endosomal membranes upon nervegrowth factor stimulation, indirectly regulates neurite outgrowth(By similarity). Plays a role in myoblast fusion (By similarity).Involved in the unidirectional retrograde dendritic transport ofendocytosed BACE1 and in efficient sorting of BACE1 to axonsimplicating a function in neuronal APP processing (By similarity).Plays a role in the formation of the ciliary vesicle (CV), anearly step in cilium biogenesis. Proposed to be required for thefusion of distal appendage vesicles (DAVs) to form the CV byrecruiting SNARE complex component SNAP29. Is required forrecruitment of transition zone proteins CEP290, RPGRIP1L, TMEM67and B9D2, and of IFT20 following DAV reorganization before Rab8-dependent ciliary membrane extension. Required for the loss ofCCP110 form the mother centriole essential for the maturation ofthe basal body during ciliogenesis (PubMed:25686250).{ECO:0000250|UniProtKB:Q641Z6, ECO:0000250|UniProtKB:Q9WVK4,ECO:0000269|PubMed:15020713, ECO:0000269|PubMed:17233914,ECO:0000269|PubMed:20801876, ECO:0000269|PubMed:24019528,ECO:0000269|PubMed:25686250}.

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 CDC42BPG_EHD1


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 CDC42BPG_EHD1


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
CDC42BPGRAC1, CDC42, RHOQ, TBK1, FAM167AEHD1AP2A1, CLTC, IGF1R, SNAP29, EHD3, EHD1, EPN1, EPN3, ANKFY1, VPS26A, MICAL1, RBSN, DGKQ, EHD4, RAB11FIP2, RAB8A, API5, ARIH2, ATE1, CTPS2, AASDHPPT, DRG2, FKBP9, PDCD10, STAT6, GTF3C4, KTN1, LIMD1, NOL3, NUBP1, PDE12, PGGT1B, PRKDC, STK39, UBA6, WARS, XPNPEP1, PLA2G4A, MICALL1, EGFR, FAM153B, FAS, TMEM25, CCNL2, SPANXN3, C19orf54, HSPB1, APOA1BP, PPP2R1A, STX12, STX7, TECR, TOMM22, WDFY1, FADD, FAM98B, OPA1, PRKRA, STXBP1, NTRK1, RAB11A, TINF2, PAPD5, SNW1, CDC5L, CDH1, TMX1, EXOC8, DLD


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 CDC42BPG_EHD1


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 CDC42BPG_EHD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource