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Fusion gene ID: 30095 |
FusionGeneSummary for RABEP1_CDRT8 |
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Fusion gene information | Fusion gene name: RABEP1_CDRT8 | Fusion gene ID: 30095 | Hgene | Tgene | Gene symbol | RABEP1 | CDRT8 | Gene ID | 9135 | 94151 |
Gene name | rabaptin, RAB GTPase binding effector protein 1 | CMT1A duplicated region transcript 8 | |
Synonyms | RAB5EP|RABPT5 | - | |
Cytomap | 17p13.2 | 17p12 | |
Type of gene | protein-coding | ncRNA | |
Description | rab GTPase-binding effector protein 1neurocrescinrabaptin-4rabaptin-5rabaptin-5alpharenal carcinoma antigen NY-REN-17 | - | |
Modification date | 20180522 | 20180329 | |
UniProtAcc | Q15276 | ||
Ensembl transtripts involved in fusion gene | ENST00000408982, ENST00000262477, ENST00000537505, ENST00000546142, ENST00000341923, ENST00000570487, | ENST00000579752, | |
Fusion gene scores | * DoF score | 11 X 8 X 7=616 | 1 X 1 X 1=1 |
# samples | 17 | 1 | |
** MAII score | log2(17/616*10)=-1.8573956045572 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
Context | PubMed: RABEP1 [Title/Abstract] AND CDRT8 [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 | BRCA | TCGA-LL-A5YN-01A | RABEP1 | chr17 | 5212117 | + | CDRT8 | chr17 | 15008860 | - |
* 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-5UTR | ENST00000408982 | ENST00000579752 | RABEP1 | chr17 | 5212117 | + | CDRT8 | chr17 | 15008860 | - |
5CDS-5UTR | ENST00000262477 | ENST00000579752 | RABEP1 | chr17 | 5212117 | + | CDRT8 | chr17 | 15008860 | - |
intron-5UTR | ENST00000537505 | ENST00000579752 | RABEP1 | chr17 | 5212117 | + | CDRT8 | chr17 | 15008860 | - |
5CDS-5UTR | ENST00000546142 | ENST00000579752 | RABEP1 | chr17 | 5212117 | + | CDRT8 | chr17 | 15008860 | - |
5CDS-5UTR | ENST00000341923 | ENST00000579752 | RABEP1 | chr17 | 5212117 | + | CDRT8 | chr17 | 15008860 | - |
intron-5UTR | ENST00000570487 | ENST00000579752 | RABEP1 | chr17 | 5212117 | + | CDRT8 | chr17 | 15008860 | - |
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FusionProtFeatures for RABEP1_CDRT8 |
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Hgene | Tgene |
RABEP1 | CDRT8 |
Rab effector protein acting as linker between gamma-adaptin, RAB4A and RAB5A. Involved in endocytic membrane fusionand membrane trafficking of recycling endosomes. Involved in KCNH1channels trafficking to and from the cell membrane(PubMed:22841712). Stimulates RABGEF1 mediated nucleotide exchangeon RAB5A. {ECO:0000269|PubMed:10698684,ECO:0000269|PubMed:11452015, ECO:0000269|PubMed:12773381,ECO:0000269|PubMed:22841712, ECO:0000269|PubMed:8521472}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
![]() * 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 RABEP1_CDRT8 |
![]() (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 RABEP1_CDRT8 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
RABEP1 | RAB5A, HUNK, YWHAQ, YWHAG, GAP43, AP1G1, RABEP1, RAB4A, GGA1, GGA2, GGA3, EEA1, RAB33B, RAB1A, ATXN7, ITSN1, ITSN2, RABGEF1, RABEP2, KIAA0368, RUFY1, SMU1, UACA, UBC, YWHAE, TRIM26, CCND1, RGS17, SLMAP, PLEC, ACTR10, ACTR1B, DCTN2, NCAPD2, HSF4, HSFY1, CCDC183, HERC2, NTRK1, AP1G2, SRPK2, OFD1, CSNK2A2, SGTB, SMURF1, C15orf27, EXOC1, SYNC, NEFL, PKN3, NCKAP5L, TFPT, CCHCR1, YEATS4, TUFT1, RABGAP1L, GOLGA5, EXOC4, GIT2, CLOCK, PSMD9, VPS53, DZIP3, GRIPAP1, RCOR1, TRIM25 | CDRT8 |
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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 RABEP1_CDRT8 |
![]() (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 RABEP1_CDRT8 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |