![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 30001 |
FusionGeneSummary for RAB3GAP1_LRP1B |
![]() |
Fusion gene information | Fusion gene name: RAB3GAP1_LRP1B | Fusion gene ID: 30001 | Hgene | Tgene | Gene symbol | RAB3GAP1 | LRP1B | Gene ID | 22930 | 53353 |
Gene name | RAB3 GTPase activating protein catalytic subunit 1 | LDL receptor related protein 1B | |
Synonyms | P130|RAB3GAP|RAB3GAP130|WARBM1 | LRP-1B|LRP-DIT|LRPDIT | |
Cytomap | 2q21.3 | 2q22.1-q22.2 | |
Type of gene | protein-coding | protein-coding | |
Description | rab3 GTPase-activating protein catalytic subunitRAB3 GTPase activating protein subunit 1 (catalytic)RAB3 GTPase-activating protein 130 kDa subunitrab3-GAP p130 | low-density lipoprotein receptor-related protein 1BLRP-deleted in tumorslow density lipoprotein receptor related protein-deleted in tumorlow density lipoprotein receptor-related protein 1Blow density lipoprotein-related protein 1B (deleted in tumors) | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | Q15042 | Q9NZR2 | |
Ensembl transtripts involved in fusion gene | ENST00000264158, ENST00000539493, ENST00000442034, ENST00000487003, ENST00000425393, | ENST00000389484, ENST00000486364, | |
Fusion gene scores | * DoF score | 8 X 8 X 6=384 | 5 X 5 X 4=100 |
# samples | 11 | 5 | |
** MAII score | log2(11/384*10)=-1.8036027871965 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/100*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: RAB3GAP1 [Title/Abstract] AND LRP1B [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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | RAB3GAP1 | GO:0043087 | regulation of GTPase activity | 10859313 |
![]() (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 | RV | KIRP | TCGA-BQ-5878-01A | RAB3GAP1 | chr2 | 135851263 | + | LRP1B | chr2 | 141739845 | - |
* 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 |
Frame-shift | ENST00000264158 | ENST00000389484 | RAB3GAP1 | chr2 | 135851263 | + | LRP1B | chr2 | 141739845 | - |
5CDS-intron | ENST00000264158 | ENST00000486364 | RAB3GAP1 | chr2 | 135851263 | + | LRP1B | chr2 | 141739845 | - |
Frame-shift | ENST00000539493 | ENST00000389484 | RAB3GAP1 | chr2 | 135851263 | + | LRP1B | chr2 | 141739845 | - |
5CDS-intron | ENST00000539493 | ENST00000486364 | RAB3GAP1 | chr2 | 135851263 | + | LRP1B | chr2 | 141739845 | - |
Frame-shift | ENST00000442034 | ENST00000389484 | RAB3GAP1 | chr2 | 135851263 | + | LRP1B | chr2 | 141739845 | - |
5CDS-intron | ENST00000442034 | ENST00000486364 | RAB3GAP1 | chr2 | 135851263 | + | LRP1B | chr2 | 141739845 | - |
3UTR-3CDS | ENST00000487003 | ENST00000389484 | RAB3GAP1 | chr2 | 135851263 | + | LRP1B | chr2 | 141739845 | - |
3UTR-intron | ENST00000487003 | ENST00000486364 | RAB3GAP1 | chr2 | 135851263 | + | LRP1B | chr2 | 141739845 | - |
intron-3CDS | ENST00000425393 | ENST00000389484 | RAB3GAP1 | chr2 | 135851263 | + | LRP1B | chr2 | 141739845 | - |
intron-intron | ENST00000425393 | ENST00000486364 | RAB3GAP1 | chr2 | 135851263 | + | LRP1B | chr2 | 141739845 | - |
Top |
FusionProtFeatures for RAB3GAP1_LRP1B |
![]() |
Hgene | Tgene |
RAB3GAP1 | LRP1B |
Probable catalytic subunit of a GTPase activatingprotein that has specificity for Rab3 subfamily (RAB3A, RAB3B,RAB3C and RAB3D). Rab3 proteins are involved in regulatedexocytosis of neurotransmitters and hormones. Specificallyconverts active Rab3-GTP to the inactive form Rab3-GDP. Requiredfor normal eye and brain development. May participate inneurodevelopmental processes such as proliferation, migration anddifferentiation before synapse formation, and non-synapticvesicular release of neurotransmitters.{ECO:0000269|PubMed:10859313, ECO:0000269|PubMed:9030515}. | Potential cell surface proteins that bind andinternalize ligands in the process of receptor-mediatedendocytosis. |
![]() * 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 |
Top |
FusionGeneSequence for RAB3GAP1_LRP1B |
![]() (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 RAB3GAP1_LRP1B |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
RAB3GAP1 | RPH3AL, WDR7, DMXL2, MAP1LC3A, FEZ1, FEZ2, RAB22A, RAB39A, RAB39B, LMAN1, PAXIP1, VCP, GABPA, GNE, NCOA7, RAB3GAP2, TSEN34, VAPB, VAPA, BCAT1, BTN2A1, SIRT2, DCAF15, NTRK1, NPHP1, BRAF, ALOX5, C6orf141, DOCK5, RCCD1, PSMC4, TRIM25, TES | LRP1B | ARRB1, CUL4B, TAZ, RSPO1, SFRP4, PTPRK, FOXD4L6, ZFP41, EWSR1, LRPAP1, ZNF408, ZNF224, ZNF331, FAM19A3, ZNF563, ZNF517, ZNF169, SCGB1D1, DNAJC10, CHRDL1, OLFM3, EGFL6, TRIM25 |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for RAB3GAP1_LRP1B |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for RAB3GAP1_LRP1B |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | LRP1B | C0007134 | Renal Cell Carcinoma | 1 | CTD_human |
Tgene | LRP1B | C0025202 | melanoma | 1 | CTD_human |