|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 4034 |
FusionGeneSummary for BCL2L1_TPX2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BCL2L1_TPX2 | Fusion gene ID: 4034 | Hgene | Tgene | Gene symbol | BCL2L1 | TPX2 | Gene ID | 598 | 22974 |
| Gene name | BCL2 like 1 | TPX2, microtubule nucleation factor | |
| Synonyms | BCL-XL/S|BCL2L|BCLX|Bcl-X|PPP1R52 | C20orf1|C20orf2|DIL-2|DIL2|FLS353|GD:C20orf1|HCA519|HCTP4|REPP86|p100 | |
| Cytomap | 20q11.21 | 20q11.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | bcl-2-like protein 1apoptosis regulator Bcl-Xprotein phosphatase 1, regulatory subunit 52 | targeting protein for Xklp2TPX2, microtubule-associated protein homologTPX2, microtubule-associated, homologdifferentially expressed in cancerous and non-cancerous lung cells 2differentially expressed in lung cellshepatocellular carcinoma-associated | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | Q07817 | Q9ULW0 | |
| Ensembl transtripts involved in fusion gene | ENST00000376062, ENST00000376055, ENST00000307677, ENST00000420653, | ENST00000340513, ENST00000300403, | |
| Fusion gene scores | * DoF score | 7 X 6 X 4=168 | 6 X 6 X 5=180 |
| # samples | 8 | 6 | |
| ** MAII score | log2(8/168*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/180*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: BCL2L1 [Title/Abstract] AND TPX2 [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 | BCL2L1 | GO:0001836 | release of cytochrome c from mitochondria | 9843949 |
| Hgene | BCL2L1 | GO:0019050 | suppression by virus of host apoptotic process | 15231831 |
| Hgene | BCL2L1 | GO:0034097 | response to cytokine | 9184696 |
| Hgene | BCL2L1 | GO:0043066 | negative regulation of apoptotic process | 7650367|9388232 |
| Hgene | BCL2L1 | GO:0046902 | regulation of mitochondrial membrane permeability | 9843949 |
| Hgene | BCL2L1 | GO:0051881 | regulation of mitochondrial membrane potential | 9843949 |
| Hgene | BCL2L1 | GO:1900118 | negative regulation of execution phase of apoptosis | 20673843 |
| Hgene | BCL2L1 | GO:1902042 | negative regulation of extrinsic apoptotic signaling pathway via death domain receptors | 26582200 |
| Hgene | BCL2L1 | GO:1902230 | negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage | 16608847 |
| Hgene | BCL2L1 | GO:1903077 | negative regulation of protein localization to plasma membrane | 21041309 |
| Hgene | BCL2L1 | GO:2001243 | negative regulation of intrinsic apoptotic signaling pathway | 12011449 |
| Tgene | TPX2 | GO:0032147 | activation of protein kinase activity | 14580337|19801554 |
| Tgene | TPX2 | GO:0090307 | mitotic spindle assembly | 26165940 |
| 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 | LD | SARC | TCGA-DX-A8BS-01A | BCL2L1 | chr20 | 30309647 | - | TPX2 | chr20 | 30345210 | + |
| * 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 | ENST00000376062 | ENST00000340513 | BCL2L1 | chr20 | 30309647 | - | TPX2 | chr20 | 30345210 | + |
| intron-5UTR | ENST00000376062 | ENST00000300403 | BCL2L1 | chr20 | 30309647 | - | TPX2 | chr20 | 30345210 | + |
| 5CDS-5UTR | ENST00000376055 | ENST00000340513 | BCL2L1 | chr20 | 30309647 | - | TPX2 | chr20 | 30345210 | + |
| 5CDS-5UTR | ENST00000376055 | ENST00000300403 | BCL2L1 | chr20 | 30309647 | - | TPX2 | chr20 | 30345210 | + |
| intron-5UTR | ENST00000307677 | ENST00000340513 | BCL2L1 | chr20 | 30309647 | - | TPX2 | chr20 | 30345210 | + |
| intron-5UTR | ENST00000307677 | ENST00000300403 | BCL2L1 | chr20 | 30309647 | - | TPX2 | chr20 | 30345210 | + |
| intron-5UTR | ENST00000420653 | ENST00000340513 | BCL2L1 | chr20 | 30309647 | - | TPX2 | chr20 | 30345210 | + |
| intron-5UTR | ENST00000420653 | ENST00000300403 | BCL2L1 | chr20 | 30309647 | - | TPX2 | chr20 | 30345210 | + |
Top |
FusionProtFeatures for BCL2L1_TPX2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BCL2L1 | TPX2 |
| Potent inhibitor of cell death. Inhibits activation ofcaspases. Appears to regulate cell death by blocking the voltage-dependent anion channel (VDAC) by binding to it and preventing therelease of the caspase activator, CYC1, from the mitochondrialmembrane. Also acts as a regulator of G2 checkpoint andprogression to cytokinesis during mitosis. Isoform Bcl-X(L) also regulates presynaptic plasticity,including neurotransmitter release and recovery, number of axonalmitochondria as well as size and number of synaptic vesicleclusters. During synaptic stimulation, increases ATP availabilityfrom mitochondria through regulation of mitochondrial membrane ATPsynthase F(1)F(0) activity and regulates endocytic vesicleretrieval in hippocampal neurons through association with DMN1Land stimulation of its GTPase activity in synaptic vesicles. Mayattenuate inflammation impairing NLRP1-inflammasome activation,hence CASP1 activation and IL1B release (PubMed:17418785).{ECO:0000269|PubMed:17418785}. Isoform Bcl-X(S) promotes apoptosis. | Spindle assembly factor required for normal assembly ofmitotic spindles. Required for normal assembly of microtubulesduring apoptosis. Required for chromatin and/or kinetochoredependent microtubule nucleation. Mediates AURKA localization tospindle microtubules (PubMed:18663142, PubMed:19208764). ActivatesAURKA by promoting its autophosphorylation at 'Thr-288' andprotects this residue against dephosphorylation (PubMed:18663142,PubMed:19208764). TPX2 is inactivated upon binding to importin-alpha (PubMed:26165940). At the onset of mitosis, GOLGA2 interactswith importin-alpha, liberating TPX2 from importin-alpha, allowingTPX2 to activates AURKA kinase and stimulates local microtubulenucleation (PubMed:26165940). {ECO:0000269|PubMed:18663142,ECO:0000269|PubMed:19208764, ECO:0000269|PubMed:26165940}. |
| 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 BCL2L1_TPX2 |
| 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 BCL2L1_TPX2 |
| 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 |
| BCL2L1 | AVEN, BNIP3, RTN1, RTN4, BIK, BAK1, RAD9A, BID, PMAIP1, BCL2L11, BBC3, BAD, BAX, BCL2, HRK, VDAC1, BNIPL, SPNS1, BCL2L14, PPP1CA, CYCS, RAF1, BECN1, BLK, BCAP31, IRS1, CASP9, APAF1, MOAP1, MCL1, IKZF3, CFLAR, PSEN2, PSEN1, CASP2, CASP8, FKBP8, DYNLL1, BNIP1, PGAM5, BLID, UHRF2, PARK7, ZFYVE1, TP53, METTL23, PPHLN1, ZNF219, EDRF1, PDIA4, GLOD4, RBM5, PLD3, DOCK7, ZHX1, UBR1, FBP1, TLE1, ACTB, TP53BP2, LARP1, PTN, PPP1CC, BFAR, CLU, BMF, CRYAA, CRYAB, ATXN3, AKT1, PARK2, PINK1, TPT1, CDKN2A, CASP1, CASP8AP2, BCL2L1, MTOR, GIMAP5, ABL1, ATG5, PDS5A, HNRNPA1, BNIP3L, CREB3, MAPK8, USP14, MTNR1B, PLK1, MAPK9, GSK3A, GSK3B, MAPKAPK2, MAPK14, CDK1, CHEK1, AURKA, PLK3 | TPX2 | AURKA, FZR1, KPNA1, KPNB1, HMMR, BRCA1, SIAH2, ZNF598, NDUFA7, THUMPD2, DNAJC8, MRPL53, SERPINH1, UBE2S, PPIF, SARNP, TWF1, SCAMP3, CDK6, IKBKB, CHUK, IKBKG, AURKB, LMNA, HDAC9, THAP11, NAP1L1, RPA3, RPA2, RPA1, GOLGA2, MAPK14, GSTM3, HIST1H2BG, AFAP1, SAP130, RBPJ, CDC5L, RNF111 |
| - 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 BCL2L1_TPX2 |
| 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 BCL2L1_TPX2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | BCL2L1 | C2239176 | Liver carcinoma | 2 | CTD_human |
| Hgene | BCL2L1 | C0001430 | Adenoma | 1 | CTD_human |
| Hgene | BCL2L1 | C0010417 | Cryptorchidism | 1 | CTD_human |
| Hgene | BCL2L1 | C0011853 | Diabetes Mellitus, Experimental | 1 | CTD_human |
| Hgene | BCL2L1 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
| Hgene | BCL2L1 | C0018671 | Head and Neck Neoplasms | 1 | CTD_human |
| Hgene | BCL2L1 | C0023895 | Liver diseases | 1 | CTD_human |
| Hgene | BCL2L1 | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
| Hgene | BCL2L1 | C0024121 | Lung Neoplasms | 1 | CTD_human |
| Hgene | BCL2L1 | C0026764 | Multiple Myeloma | 1 | CTD_human |
| Hgene | BCL2L1 | C0027051 | Myocardial Infarction | 1 | CTD_human |
| Hgene | BCL2L1 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| Hgene | BCL2L1 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
| Hgene | BCL2L1 | C0235032 | Neurotoxicity Syndromes | 1 | CTD_human |
| Hgene | BCL2L1 | C0242350 | Erectile dysfunction | 1 | CTD_human |
| Hgene | BCL2L1 | C1384666 | hearing impairment | 1 | CTD_human |
| Hgene | BCL2L1 | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |
| Hgene | BCL2L1 | C2937358 | Cerebral Hemorrhage | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|