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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:BCL2L1-TOR3A (FusionGDB2 ID:9423)

Fusion Gene Summary for BCL2L1-TOR3A

check button Fusion gene summary
Fusion gene informationFusion gene name: BCL2L1-TOR3A
Fusion gene ID: 9423
HgeneTgene
Gene symbol

BCL2L1

TOR3A

Gene ID

598

64222

Gene nameBCL2 like 1torsin family 3 member A
SynonymsBCL-XL/S|BCL2L|BCLX|Bcl-X|PPP1R52ADIR|ADIR2
Cytomap

20q11.21

1q25.2

Type of geneprotein-codingprotein-coding
Descriptionbcl-2-like protein 1apoptosis regulator Bcl-Xprotein phosphatase 1, regulatory subunit 52torsin-3AATP-dependant interferon response protein 1ATP-dependant interferon responsiveATP-dependent interferon-responsive proteinepididymis secretory sperm binding protein
Modification date2020032720200313
UniProtAcc

Q07817

.
Ensembl transtripts involved in fusion geneENST00000376062, ENST00000376055, 
ENST00000307677, ENST00000420653, 
ENST00000367627, ENST00000352445, 
ENST00000495145, 
Fusion gene scores* DoF score8 X 6 X 5=2402 X 2 X 2=8
# samples 82
** MAII scorelog2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(2/8*10)=1.32192809488736
Context

PubMed: BCL2L1 [Title/Abstract] AND TOR3A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBCL2L1(30253124)-TOR3A(179051374), # samples:2
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneBCL2L1

GO:0001836

release of cytochrome c from mitochondria

9843949

HgeneBCL2L1

GO:0019050

suppression by virus of host apoptotic process

15231831

HgeneBCL2L1

GO:0034097

response to cytokine

9184696

HgeneBCL2L1

GO:0043066

negative regulation of apoptotic process

7650367|9388232

HgeneBCL2L1

GO:0046902

regulation of mitochondrial membrane permeability

9843949

HgeneBCL2L1

GO:0051881

regulation of mitochondrial membrane potential

9843949

HgeneBCL2L1

GO:1900118

negative regulation of execution phase of apoptosis

20673843

HgeneBCL2L1

GO:1902042

negative regulation of extrinsic apoptotic signaling pathway via death domain receptors

26582200

HgeneBCL2L1

GO:1902230

negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage

16608847

HgeneBCL2L1

GO:1902236

negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway

29507230

HgeneBCL2L1

GO:1903077

negative regulation of protein localization to plasma membrane

21041309

HgeneBCL2L1

GO:2001243

negative regulation of intrinsic apoptotic signaling pathway

12011449


check buttonFusion gene breakpoints across BCL2L1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across TOR3A (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ABQ686301BCL2L1chr20

30253124

-TOR3Achr1

179051374

+
ChiTaRS5.0N/ABQ878375BCL2L1chr20

30253124

-TOR3Achr1

179051374

+


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Fusion Gene ORF analysis for BCL2L1-TOR3A

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000376062ENST00000367627BCL2L1chr20

30253124

-TOR3Achr1

179051374

+
intron-3CDSENST00000376062ENST00000352445BCL2L1chr20

30253124

-TOR3Achr1

179051374

+
intron-intronENST00000376062ENST00000495145BCL2L1chr20

30253124

-TOR3Achr1

179051374

+
intron-3CDSENST00000376055ENST00000367627BCL2L1chr20

30253124

-TOR3Achr1

179051374

+
intron-3CDSENST00000376055ENST00000352445BCL2L1chr20

30253124

-TOR3Achr1

179051374

+
intron-intronENST00000376055ENST00000495145BCL2L1chr20

30253124

-TOR3Achr1

179051374

+
intron-3CDSENST00000307677ENST00000367627BCL2L1chr20

30253124

-TOR3Achr1

179051374

+
intron-3CDSENST00000307677ENST00000352445BCL2L1chr20

30253124

-TOR3Achr1

179051374

+
intron-intronENST00000307677ENST00000495145BCL2L1chr20

30253124

-TOR3Achr1

179051374

+
intron-3CDSENST00000420653ENST00000367627BCL2L1chr20

30253124

-TOR3Achr1

179051374

+
intron-3CDSENST00000420653ENST00000352445BCL2L1chr20

30253124

-TOR3Achr1

179051374

+
intron-intronENST00000420653ENST00000495145BCL2L1chr20

30253124

-TOR3Achr1

179051374

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for BCL2L1-TOR3A


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for BCL2L1-TOR3A


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
BCL2L1

Q07817

.
FUNCTION: Potent inhibitor of cell death. Inhibits activation of caspases. Appears to regulate cell death by blocking the voltage-dependent anion channel (VDAC) by binding to it and preventing the release of the caspase activator, CYC1, from the mitochondrial membrane. Also acts as a regulator of G2 checkpoint and progression to cytokinesis during mitosis.; FUNCTION: Isoform Bcl-X(L) also regulates presynaptic plasticity, including neurotransmitter release and recovery, number of axonal mitochondria as well as size and number of synaptic vesicle clusters. During synaptic stimulation, increases ATP availability from mitochondria through regulation of mitochondrial membrane ATP synthase F(1)F(0) activity and regulates endocytic vesicle retrieval in hippocampal neurons through association with DMN1L and stimulation of its GTPase activity in synaptic vesicles. May attenuate inflammation impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785). {ECO:0000269|PubMed:17418785}.; FUNCTION: Isoform Bcl-X(S) promotes apoptosis.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

check buttonRetention 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

download page


* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for BCL2L1-TOR3A


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for BCL2L1-TOR3A


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for BCL2L1-TOR3A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneBCL2L1Q07817DB09401IsosorbideSmall moleculeApproved|Investigational
HgeneBCL2L1Q07817DB09401IsosorbideSmall moleculeApproved|Investigational
HgeneBCL2L1Q07817DB09401IsosorbideSmall moleculeApproved|Investigational

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Related Diseases for BCL2L1-TOR3A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBCL2L1C0019207Hepatoma, Morris2CTD_human
HgeneBCL2L1C0019208Hepatoma, Novikoff2CTD_human
HgeneBCL2L1C0023904Liver Neoplasms, Experimental2CTD_human
HgeneBCL2L1C0086404Experimental Hepatoma2CTD_human
HgeneBCL2L1C2239176Liver carcinoma2CTD_human
HgeneBCL2L1C0001430Adenoma1CTD_human
HgeneBCL2L1C0002152Alloxan Diabetes1CTD_human
HgeneBCL2L1C0007097Carcinoma1CTD_human
HgeneBCL2L1C0010417Cryptorchidism1CTD_human
HgeneBCL2L1C0011853Diabetes Mellitus, Experimental1CTD_human
HgeneBCL2L1C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneBCL2L1C0018671Head and Neck Neoplasms1CTD_human
HgeneBCL2L1C0018675Head Neoplasms1CTD_human
HgeneBCL2L1C0023895Liver diseases1CTD_human
HgeneBCL2L1C0024121Lung Neoplasms1CTD_human
HgeneBCL2L1C0024623Malignant neoplasm of stomach1CTD_human
HgeneBCL2L1C0026764Multiple Myeloma1CTD_human
HgeneBCL2L1C0027051Myocardial Infarction1CTD_human
HgeneBCL2L1C0027533Neck Neoplasms1CTD_human
HgeneBCL2L1C0030297Pancreatic Neoplasm1CTD_human
HgeneBCL2L1C0038356Stomach Neoplasms1CTD_human
HgeneBCL2L1C0038433Streptozotocin Diabetes1CTD_human
HgeneBCL2L1C0086565Liver Dysfunction1CTD_human
HgeneBCL2L1C0149504Encephalopathy, Toxic1CTD_human
HgeneBCL2L1C0154659Toxic Encephalitis1CTD_human
HgeneBCL2L1C0205646Adenoma, Basal Cell1CTD_human
HgeneBCL2L1C0205647Follicular adenoma1CTD_human
HgeneBCL2L1C0205648Adenoma, Microcystic1CTD_human
HgeneBCL2L1C0205649Adenoma, Monomorphic1CTD_human
HgeneBCL2L1C0205650Papillary adenoma1CTD_human
HgeneBCL2L1C0205651Adenoma, Trabecular1CTD_human
HgeneBCL2L1C0205696Anaplastic carcinoma1CTD_human
HgeneBCL2L1C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneBCL2L1C0205698Undifferentiated carcinoma1CTD_human
HgeneBCL2L1C0205699Carcinomatosis1CTD_human
HgeneBCL2L1C0235032Neurotoxicity Syndromes1CTD_human
HgeneBCL2L1C0242350Erectile dysfunction1CTD_human
HgeneBCL2L1C0242379Malignant neoplasm of lung1CTD_human
HgeneBCL2L1C0278996Malignant Head and Neck Neoplasm1CTD_human
HgeneBCL2L1C0346647Malignant neoplasm of pancreas1CTD_human
HgeneBCL2L1C0431663Bilateral Cryptorchidism1CTD_human
HgeneBCL2L1C0431664Unilateral Cryptorchidism1CTD_human
HgeneBCL2L1C0746787Cancer of Neck1CTD_human
HgeneBCL2L1C0751177Cancer of Head1CTD_human
HgeneBCL2L1C0887900Upper Aerodigestive Tract Neoplasms1CTD_human
HgeneBCL2L1C1384666hearing impairment1CTD_human
HgeneBCL2L1C1563730Abdominal Cryptorchidism1CTD_human
HgeneBCL2L1C1563731Inguinal Cryptorchidism1CTD_human
HgeneBCL2L1C1708349Hereditary Diffuse Gastric Cancer1CTD_human
HgeneBCL2L1C1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human
HgeneBCL2L1C1862941Amyotrophic Lateral Sclerosis, Sporadic1CTD_human
HgeneBCL2L1C2937358Cerebral Hemorrhage1CTD_human
HgeneBCL2L1C4551993Amyotrophic Lateral Sclerosis, Familial1CTD_human