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Fusion gene ID: 4031 |
FusionGeneSummary for BCL2L1_SLC1A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: BCL2L1_SLC1A1 | Fusion gene ID: 4031 | Hgene | Tgene | Gene symbol | BCL2L1 | SLC1A1 | Gene ID | 598 | 6505 |
| Gene name | BCL2 like 1 | solute carrier family 1 member 1 | |
| Synonyms | BCL-XL/S|BCL2L|BCLX|Bcl-X|PPP1R52 | DCBXA|EAAC1|EAAT3|SCZD18 | |
| Cytomap | 20q11.21 | 9p24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | bcl-2-like protein 1apoptosis regulator Bcl-Xprotein phosphatase 1, regulatory subunit 52 | excitatory amino acid transporter 3excitatory amino acid carrier 1neuronal and epithelial glutamate transportersodium-dependent glutamate/aspartate transporter 3solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system X | |
| Modification date | 20180527 | 20180519 | |
| UniProtAcc | Q07817 | P43005 | |
| Ensembl transtripts involved in fusion gene | ENST00000376062, ENST00000376055, ENST00000307677, ENST00000420653, | ENST00000262352, ENST00000490167, | |
| Fusion gene scores | * DoF score | 7 X 6 X 4=168 | 3 X 2 X 3=18 |
| # samples | 8 | 3 | |
| ** MAII score | log2(8/168*10)=-1.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: BCL2L1 [Title/Abstract] AND SLC1A1 [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 | SLC1A1 | GO:0015813 | L-glutamate transmembrane transport | 21123949|26690923 |
| Tgene | SLC1A1 | GO:0042883 | cysteine transport | 21123949 |
| Tgene | SLC1A1 | GO:0051938 | L-glutamate import | 7521911 |
| Tgene | SLC1A1 | GO:0070779 | D-aspartate import across plasma membrane | 7521911 |
| Tgene | SLC1A1 | GO:0098712 | L-glutamate import across plasma membrane | 26690923 |
| 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 | AU121859 | BCL2L1 | chr20 | 30285126 | - | SLC1A1 | chr9 | 4491767 | + |
| * 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 | ENST00000376062 | ENST00000262352 | BCL2L1 | chr20 | 30285126 | - | SLC1A1 | chr9 | 4491767 | + |
| intron-intron | ENST00000376062 | ENST00000490167 | BCL2L1 | chr20 | 30285126 | - | SLC1A1 | chr9 | 4491767 | + |
| intron-intron | ENST00000376055 | ENST00000262352 | BCL2L1 | chr20 | 30285126 | - | SLC1A1 | chr9 | 4491767 | + |
| intron-intron | ENST00000376055 | ENST00000490167 | BCL2L1 | chr20 | 30285126 | - | SLC1A1 | chr9 | 4491767 | + |
| intron-intron | ENST00000307677 | ENST00000262352 | BCL2L1 | chr20 | 30285126 | - | SLC1A1 | chr9 | 4491767 | + |
| intron-intron | ENST00000307677 | ENST00000490167 | BCL2L1 | chr20 | 30285126 | - | SLC1A1 | chr9 | 4491767 | + |
| intron-intron | ENST00000420653 | ENST00000262352 | BCL2L1 | chr20 | 30285126 | - | SLC1A1 | chr9 | 4491767 | + |
| intron-intron | ENST00000420653 | ENST00000490167 | BCL2L1 | chr20 | 30285126 | - | SLC1A1 | chr9 | 4491767 | + |
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FusionProtFeatures for BCL2L1_SLC1A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| BCL2L1 | SLC1A1 |
| 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. | Sodium-dependent, high-affinity amino acid transporterthat mediates the uptake of L-glutamate and also L-aspartate andD-aspartate (PubMed:7914198, PubMed:7521911, PubMed:8857541,PubMed:26690923, PubMed:21123949). Can also transport L-cysteine(PubMed:21123949). Functions as a symporter that transports oneamino acid molecule together with two or three Na(+) ions and oneproton, in parallel with the counter-transport of one K(+) ion(PubMed:7521911, PubMed:8857541, PubMed:26690923). Mediates Cl(-)flux that is not coupled to amino acid transport; this avoids theaccumulation of negative charges due to aspartate and Na(+)symport (PubMed:8857541, PubMed:26690923). Plays an important rolein L-glutamate and L-aspartate reabsorption in renal tubuli(PubMed:21123949). Plays a redundant role in the rapid removal ofreleased glutamate from the synaptic cleft, which is essential forterminating the postsynaptic action of glutamate (By similarity).Negatively regulated by ARL6IP5 (By similarity).{ECO:0000250|UniProtKB:P51906, ECO:0000250|UniProtKB:P51907,ECO:0000269|PubMed:21123949, ECO:0000269|PubMed:26690923,ECO:0000269|PubMed:7521911, ECO:0000269|PubMed:7914198,ECO:0000269|PubMed:8857541}. |
| 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 BCL2L1_SLC1A1 |
| 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 BCL2L1_SLC1A1 |
| 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 BCL2L1_SLC1A1 |
| 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 |
| Tgene | SLC1A1 | P43005 | DB00142 | Glutamic Acid | Excitatory amino acid transporter 3 | small molecule | approved|nutraceutical |
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RelatedDiseases for BCL2L1_SLC1A1 |
| 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 |
| Tgene | SLC1A1 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | SLC1A1 | C0006111 | Brain Diseases | 1 | CTD_human |
| Tgene | SLC1A1 | C0009241 | Cognition Disorders | 1 | CTD_human |
| Tgene | SLC1A1 | C0011570 | Mental Depression | 1 | PSYGENET |
| Tgene | SLC1A1 | C0011581 | Depressive disorder | 1 | PSYGENET |
| Tgene | SLC1A1 | C0014175 | Endometriosis | 1 | CTD_human |
| Tgene | SLC1A1 | C0014544 | Epilepsy | 1 | CTD_human |
| Tgene | SLC1A1 | C0014556 | Epilepsy, Temporal Lobe | 1 | CTD_human |
| Tgene | SLC1A1 | C0036572 | Seizures | 1 | CTD_human |
| Tgene | SLC1A1 | C0333641 | Atrophic | 1 | CTD_human |
| Tgene | SLC1A1 | C1857253 | Dicarboxylicaminoaciduria | 1 | ORPHANET;UNIPROT |
| Tgene | SLC1A1 | C1955869 | Malformations of Cortical Development | 1 | CTD_human |
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