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Fusion gene ID: 5924 |
FusionGeneSummary for CCDC88C_RASGEF1B |
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Fusion gene information | Fusion gene name: CCDC88C_RASGEF1B | Fusion gene ID: 5924 | Hgene | Tgene | Gene symbol | CCDC88C | RASGEF1B | Gene ID | 440193 | 153020 |
Gene name | coiled-coil domain containing 88C | RasGEF domain family member 1B | |
Synonyms | DAPLE|HKRP2|KIAA1509|SCA40 | GPIG4 | |
Cytomap | 14q32.11-q32.12 | 4q21.21 | |
Type of gene | protein-coding | protein-coding | |
Description | protein DapleDvl-associating protein with a high frequency of leucine residueshook-related protein 2spinocerebellar ataxia 40 | ras-GEF domain-containing family member 1BGPI gamma-4 | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q9P219 | Q0VAM2 | |
Ensembl transtripts involved in fusion gene | ENST00000389857, ENST00000331194, ENST00000389856, ENST00000553403, ENST00000554165, | ENST00000509081, ENST00000264400, ENST00000335927, ENST00000436139, ENST00000514889, | |
Fusion gene scores | * DoF score | 4 X 4 X 3=48 | 6 X 4 X 5=120 |
# samples | 6 | 6 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | LD | HNSC | TCGA-T2-A6X0-01A | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-intron | ENST00000389857 | ENST00000509081 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
5CDS-intron | ENST00000389857 | ENST00000264400 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
5CDS-intron | ENST00000389857 | ENST00000335927 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
5CDS-intron | ENST00000389857 | ENST00000436139 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
5CDS-intron | ENST00000389857 | ENST00000514889 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000331194 | ENST00000509081 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000331194 | ENST00000264400 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000331194 | ENST00000335927 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000331194 | ENST00000436139 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000331194 | ENST00000514889 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000389856 | ENST00000509081 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000389856 | ENST00000264400 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000389856 | ENST00000335927 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000389856 | ENST00000436139 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000389856 | ENST00000514889 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000553403 | ENST00000509081 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000553403 | ENST00000264400 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000553403 | ENST00000335927 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000553403 | ENST00000436139 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000553403 | ENST00000514889 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000554165 | ENST00000509081 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000554165 | ENST00000264400 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000554165 | ENST00000335927 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000554165 | ENST00000436139 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
intron-intron | ENST00000554165 | ENST00000514889 | CCDC88C | chr14 | 91772109 | - | RASGEF1B | chr4 | 82836511 | - |
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FusionProtFeatures for CCDC88C_RASGEF1B |
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Hgene | Tgene |
CCDC88C | RASGEF1B |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for CCDC88C_RASGEF1B |
![]() (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 CCDC88C_RASGEF1B |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CCDC88C | MAPK8, ITSN2, APP, SMURF1, BAG3, LATS2, GNAI3, MCM7, WHSC1, KATNA1, WDFY1, RNASE7, ALDH1L1 | RASGEF1B | EGFR, COL1A1, GAPDHS |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CCDC88C_RASGEF1B |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CCDC88C_RASGEF1B |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | RASGEF1B | C3495559 | Juvenile arthritis | 1 | CTD_human |