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Fusion gene ID: 30001 |
FusionGeneSummary for RAB3GAP1_LRP1B |
 Fusion gene summary |
| 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) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | RAB3GAP1 | GO:0043087 | regulation of GTPase activity | 10859313 |
| 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 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 |
| 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. |
| 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 | - |
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FusionProtFeatures for RAB3GAP1_LRP1B |
| Main function of each fusion partner protein. (from UniProt) |
| 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. |
| Retention 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 . * 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 RAB3GAP1_LRP1B |
| 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 RAB3GAP1_LRP1B |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| 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 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for RAB3GAP1_LRP1B |
| Drugs targeting genes involved in this fusion gene. (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 RAB3GAP1_LRP1B |
| Diseases associated with fusion partners. (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 |
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