|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 4008 |
FusionGeneSummary for BCL11B_AMOT |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BCL11B_AMOT | Fusion gene ID: 4008 | Hgene | Tgene | Gene symbol | BCL11B | AMOT | Gene ID | 64919 | 154796 |
| Gene name | B cell CLL/lymphoma 11B | angiomotin | |
| Synonyms | ATL1|ATL1-alpha|ATL1-beta|ATL1-delta|ATL1-gamma|CTIP-2|CTIP2|IMD49|RIT1|ZNF856B|hRIT1-alpha | - | |
| Cytomap | 14q32.2 | Xq23 | |
| Type of gene | protein-coding | protein-coding | |
| Description | B-cell lymphoma/leukemia 11BB-cell CLL/lymphoma 11B (zinc finger protein)B-cell CLL/lymphoma 11B/T-cell receptor delta constant region fusion proteinB-cell lymphoma/leukaemia 11BBCL-11BBCL11B/TRDC fusionCOUP-TF-interacting protein 2hRit1radiation- | angiomotinangiomotin p130 isoformangiomotin p80 isoform | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9C0K0 | Q4VCS5 | |
| Ensembl transtripts involved in fusion gene | ENST00000357195, ENST00000345514, ENST00000443726, | ENST00000304758, ENST00000524145, ENST00000462114, ENST00000371959, ENST00000371962, ENST00000371958, | |
| Fusion gene scores | * DoF score | 4 X 5 X 2=40 | 2 X 2 X 1=4 |
| # samples | 15 | 2 | |
| ** MAII score | log2(15/40*10)=1.90689059560852 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/4*10)=2.32192809488736 | |
| Context | PubMed: BCL11B [Title/Abstract] AND AMOT [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 | AMOT | GO:0016525 | negative regulation of angiogenesis | 11257124 |
| Tgene | AMOT | GO:0030334 | regulation of cell migration | 11257124 |
| Tgene | AMOT | GO:0034613 | cellular protein localization | 21205866 |
| 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 | AB043584 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
| * 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-intron | ENST00000357195 | ENST00000304758 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
| intron-intron | ENST00000357195 | ENST00000524145 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
| intron-intron | ENST00000357195 | ENST00000462114 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
| intron-intron | ENST00000357195 | ENST00000371959 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
| intron-intron | ENST00000357195 | ENST00000371962 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
| intron-intron | ENST00000357195 | ENST00000371958 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
| intron-intron | ENST00000345514 | ENST00000304758 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
| intron-intron | ENST00000345514 | ENST00000524145 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
| intron-intron | ENST00000345514 | ENST00000462114 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
| intron-intron | ENST00000345514 | ENST00000371959 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
| intron-intron | ENST00000345514 | ENST00000371962 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
| intron-intron | ENST00000345514 | ENST00000371958 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
| intron-intron | ENST00000443726 | ENST00000304758 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
| intron-intron | ENST00000443726 | ENST00000524145 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
| intron-intron | ENST00000443726 | ENST00000462114 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
| intron-intron | ENST00000443726 | ENST00000371959 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
| intron-intron | ENST00000443726 | ENST00000371962 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
| intron-intron | ENST00000443726 | ENST00000371958 | BCL11B | chr14 | 99640190 | - | AMOT | chrX | 112041593 | + |
Top |
FusionProtFeatures for BCL11B_AMOT |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BCL11B | AMOT |
| Key regulator of both differentiation and survival of T-lymphocytes during thymocyte development in mammals. Essential incontrolling the responsiveness of hematopoietic stem cells tochemotactic signals by modulating the expression of the receptorsCCR7 and CCR9, which direct the movement of progenitor cells fromthe bone marrow to the thymus (PubMed:27959755). Is a regulator ofIL2 promoter and enhances IL2 expression in activated CD4(+) T-lymphocytes (PubMed:16809611). Tumor-suppressor that repressestranscription through direct, TFCOUP2-independent binding to a GC-rich response element (By similarity). May also function in theP53-signaling pathway (By similarity).{ECO:0000250|UniProtKB:Q99PV8, ECO:0000269|PubMed:16809611,ECO:0000269|PubMed:27959755}. | Plays a central role in tight junction maintenance viathe complex formed with ARHGAP17, which acts by regulating theuptake of polarity proteins at tight junctions. Appears toregulate endothelial cell migration and tube formation. May alsoplay a role in the assembly of endothelial cell-cell junctions.{ECO:0000269|PubMed:11257124, ECO:0000269|PubMed:16678097}. |
| 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 |
Top |
FusionGeneSequence for BCL11B_AMOT |
| 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). |
Top |
FusionGenePPI for BCL11B_AMOT |
| 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 |
Top |
RelatedDrugs for BCL11B_AMOT |
| 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 |
Top |
RelatedDiseases for BCL11B_AMOT |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BCL11B | C0024299 | Lymphoma | 1 | CTD_human |
| Hgene | BCL11B | C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|