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Fusion gene ID: 29916 |
FusionGeneSummary for RAB1A_BCL11A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RAB1A_BCL11A | Fusion gene ID: 29916 | Hgene | Tgene | Gene symbol | RAB1A | BCL11A | Gene ID | 5861 | 53335 |
| Gene name | RAB1A, member RAS oncogene family | B cell CLL/lymphoma 11A | |
| Synonyms | RAB1|YPT1 | BCL11A-L|BCL11A-S|BCL11A-XL|BCL11a-M|CTIP1|DILOS|EVI9|HBFQTL5|ZNF856 | |
| Cytomap | 2p14 | 2p16.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | ras-related protein Rab-1AGTP binding protein Rab1aRAB1, member RAS oncogene familyRab GTPase YPT1 homologYPT1-related protein | B-cell lymphoma/leukemia 11AB-cell CLL/lymphoma 11A (zinc finger protein) isoform 2BCL11A B-cell CLL/lymphoma 11A (zinc finger protein) isoform 1C2H2-type zinc finger proteinCOUP-TF-interacting protein 1ecotropic viral integration site 9 homologecot | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | P62820 | Q9H165 | |
| Ensembl transtripts involved in fusion gene | ENST00000494188, ENST00000409892, ENST00000409784, ENST00000398529, ENST00000409751, ENST00000260638, ENST00000356214, | ENST00000356842, ENST00000359629, ENST00000538214, ENST00000537768, ENST00000335712, ENST00000477659, ENST00000358510, | |
| Fusion gene scores | * DoF score | 7 X 6 X 3=126 | 9 X 8 X 3=216 |
| # samples | 8 | 8 | |
| ** MAII score | log2(8/126*10)=-0.655351828612554 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/216*10)=-1.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RAB1A [Title/Abstract] AND BCL11A [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 |
| Tgene | BCL11A | GO:0000122 | negative regulation of transcription by RNA polymerase II | 19153051 |
| 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 |
| ChiTaRS3.1 | DR001100 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| * 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 |
| intron-5UTR | ENST00000494188 | ENST00000356842 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000494188 | ENST00000359629 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000494188 | ENST00000538214 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000494188 | ENST00000537768 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000494188 | ENST00000335712 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-intron | ENST00000494188 | ENST00000477659 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000494188 | ENST00000358510 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000409892 | ENST00000356842 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000409892 | ENST00000359629 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000409892 | ENST00000538214 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000409892 | ENST00000537768 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000409892 | ENST00000335712 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-intron | ENST00000409892 | ENST00000477659 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000409892 | ENST00000358510 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000409784 | ENST00000356842 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000409784 | ENST00000359629 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000409784 | ENST00000538214 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000409784 | ENST00000537768 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000409784 | ENST00000335712 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-intron | ENST00000409784 | ENST00000477659 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000409784 | ENST00000358510 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000398529 | ENST00000356842 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000398529 | ENST00000359629 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000398529 | ENST00000538214 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000398529 | ENST00000537768 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000398529 | ENST00000335712 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-intron | ENST00000398529 | ENST00000477659 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000398529 | ENST00000358510 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000409751 | ENST00000356842 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000409751 | ENST00000359629 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000409751 | ENST00000538214 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000409751 | ENST00000537768 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000409751 | ENST00000335712 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-intron | ENST00000409751 | ENST00000477659 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000409751 | ENST00000358510 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000260638 | ENST00000356842 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000260638 | ENST00000359629 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000260638 | ENST00000538214 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000260638 | ENST00000537768 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000260638 | ENST00000335712 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-intron | ENST00000260638 | ENST00000477659 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000260638 | ENST00000358510 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000356214 | ENST00000356842 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000356214 | ENST00000359629 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000356214 | ENST00000538214 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000356214 | ENST00000537768 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000356214 | ENST00000335712 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-intron | ENST00000356214 | ENST00000477659 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
| intron-5UTR | ENST00000356214 | ENST00000358510 | RAB1A | chr2 | 65357120 | - | BCL11A | chr2 | 60780426 | - |
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FusionProtFeatures for RAB1A_BCL11A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RAB1A | BCL11A |
| The small GTPases Rab are key regulators ofintracellular membrane trafficking, from the formation oftransport vesicles to their fusion with membranes. Rabs cyclebetween an inactive GDP-bound form and an active GTP-bound formthat is able to recruit to membranes different sets of downstreameffectors directly responsible for vesicle formation, movement,tethering and fusion. RAB1A regulates vesicular protein transportfrom the endoplasmic reticulum (ER) to the Golgi compartment andon to the cell surface, and plays a role in IL-8 and growthhormone secretion. Regulates the level of CASR present at the cellmembrane. Plays a role in cell adhesion and cell migration, viaits role in protein trafficking. Plays a role in autophagosomeassembly and cellular defense reactions against pathogenicbacteria. Plays a role in microtubule-dependent protein transportby early endosomes and in anterograde melanosome transport.{ECO:0000269|PubMed:20639577, ECO:0000269|PubMed:20861236,ECO:0000269|PubMed:21303926, ECO:0000269|PubMed:22939626}. |
| 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 RAB1A_BCL11A |
| 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 RAB1A_BCL11A |
| 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 |
| - 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 RAB1A_BCL11A |
| 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 RAB1A_BCL11A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | BCL11A | C0003635 | Apraxias | 1 | CTD_human |
| Tgene | BCL11A | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| Tgene | BCL11A | C0023014 | Language Development Disorders | 1 | CTD_human |
| Tgene | BCL11A | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
| Tgene | BCL11A | C0036095 | Salivary Gland Neoplasms | 1 | CTD_human |
| Tgene | BCL11A | C0036341 | Schizophrenia | 1 | PSYGENET |
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