FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 5924

FusionGeneSummary for CCDC88C_RASGEF1B

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC88C_RASGEF1B
Fusion gene ID: 5924
HgeneTgene
Gene symbol

CCDC88C

RASGEF1B

Gene ID

440193

153020

Gene namecoiled-coil domain containing 88CRasGEF domain family member 1B
SynonymsDAPLE|HKRP2|KIAA1509|SCA40GPIG4
Cytomap

14q32.11-q32.12

4q21.21

Type of geneprotein-codingprotein-coding
Descriptionprotein DapleDvl-associating protein with a high frequency of leucine residueshook-related protein 2spinocerebellar ataxia 40ras-GEF domain-containing family member 1BGPI gamma-4
Modification date2018052320180519
UniProtAcc

Q9P219

Q0VAM2

Ensembl transtripts involved in fusion geneENST00000389857, ENST00000331194, 
ENST00000389856, ENST00000553403, 
ENST00000554165, 
ENST00000509081, 
ENST00000264400, ENST00000335927, 
ENST00000436139, ENST00000514889, 
Fusion gene scores* DoF score4 X 4 X 3=486 X 4 X 5=120
# samples 66
** MAII scorelog2(6/48*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/120*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: CCDC88C [Title/Abstract] AND RASGEF1B [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

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
TCGALDHNSCTCGA-T2-A6X0-01ACCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
* 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-intronENST00000389857ENST00000509081CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
5CDS-intronENST00000389857ENST00000264400CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
5CDS-intronENST00000389857ENST00000335927CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
5CDS-intronENST00000389857ENST00000436139CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
5CDS-intronENST00000389857ENST00000514889CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000331194ENST00000509081CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000331194ENST00000264400CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000331194ENST00000335927CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000331194ENST00000436139CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000331194ENST00000514889CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000389856ENST00000509081CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000389856ENST00000264400CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000389856ENST00000335927CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000389856ENST00000436139CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000389856ENST00000514889CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000553403ENST00000509081CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000553403ENST00000264400CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000553403ENST00000335927CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000553403ENST00000436139CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000553403ENST00000514889CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000554165ENST00000509081CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000554165ENST00000264400CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000554165ENST00000335927CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000554165ENST00000436139CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-
intron-intronENST00000554165ENST00000514889CCDC88Cchr14

91772109

-RASGEF1Bchr4

82836511

-

Top

FusionProtFeatures for CCDC88C_RASGEF1B


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CCDC88C

Q9P219

RASGEF1B

Q0VAM2

Negative regulator of the canonical Wnt signalingpathway, acting downstream of DVL to inhibit CTNNB1/Beta-cateninstabilization (By similarity). May also activate the JNK signalingpathway (PubMed:25062847). {ECO:0000250|UniProtKB:Q6VGS5,ECO:0000269|PubMed:25062847}. Guanine nucleotide exchange factor (GEF) withspecificity for RAP2A, it doesn't seems to activate other Rasfamily proteins (in vitro). {ECO:0000269|PubMed:19645719,ECO:0000269|PubMed:23894443}.

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


Top

FusionGeneSequence for CCDC88C_RASGEF1B


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).

Top

FusionGenePPI for CCDC88C_RASGEF1B


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
CCDC88CMAPK8, ITSN2, APP, SMURF1, BAG3, LATS2, GNAI3, MCM7, WHSC1, KATNA1, WDFY1, RNASE7, ALDH1L1RASGEF1BEGFR, COL1A1, GAPDHS


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


Top

RelatedDrugs for CCDC88C_RASGEF1B


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for CCDC88C_RASGEF1B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneRASGEF1BC3495559Juvenile arthritis1CTD_human