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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-COX4I2 (FusionGDB2 ID:HG598TG84701)

Fusion Gene Summary for BCL2L1-COX4I2

check button Fusion gene summary
Fusion gene informationFusion gene name: BCL2L1-COX4I2
Fusion gene ID: hg598tg84701
HgeneTgene
Gene symbol

BCL2L1

COX4I2

Gene ID

598

84701

Gene nameBCL2 like 1cytochrome c oxidase subunit 4I2
SynonymsBCL-XL/S|BCL2L|BCLX|Bcl-X|PPP1R52COX4|COX4-2|COX4B|COX4L2|COXIV-2|dJ857M17.2
Cytomap('BCL2L1')('COX4I2')

20q11.21

20q11.21

Type of geneprotein-codingprotein-coding
Descriptionbcl-2-like protein 1apoptosis regulator Bcl-Xprotein phosphatase 1, regulatory subunit 52cytochrome c oxidase subunit 4 isoform 2, mitochondrialCOX IV-2cytochrome c oxidase subunit IV isoform 2 (lung)cytochrome c oxidase subunit IV-like 2
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000307677, ENST00000376062, 
ENST00000420653, ENST00000376055, 
Fusion gene scores* DoF score8 X 6 X 5=2403 X 5 X 3=45
# samples 85
** MAII scorelog2(8/240*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/45*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BCL2L1 [Title/Abstract] AND COX4I2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBCL2L1(30309458)-COX4I2(30227736), # samples:1
Anticipated loss of major functional domain due to fusion event.BCL2L1-COX4I2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
BCL2L1-COX4I2 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
BCL2L1-COX4I2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
BCL2L1-COX4I2 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
BCL2L1-COX4I2 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
BCL2L1-COX4I2 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* 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.
all structure
check buttonFusion gene breakpoints across COX4I2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information
* 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
ChimerDB4BLCATCGA-GC-A3I6-01ABCL2L1chr20

30309458

-COX4I2chr20

30227736

+


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Fusion Gene ORF analysis for BCL2L1-COX4I2

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
5CDS-3UTRENST00000307677ENST00000490030BCL2L1chr20

30309458

-COX4I2chr20

30227736

+
5CDS-3UTRENST00000376062ENST00000490030BCL2L1chr20

30309458

-COX4I2chr20

30227736

+
5CDS-3UTRENST00000420653ENST00000490030BCL2L1chr20

30309458

-COX4I2chr20

30227736

+
Frame-shiftENST00000376062ENST00000376075BCL2L1chr20

30309458

-COX4I2chr20

30227736

+
In-frameENST00000307677ENST00000376075BCL2L1chr20

30309458

-COX4I2chr20

30227736

+
In-frameENST00000420653ENST00000376075BCL2L1chr20

30309458

-COX4I2chr20

30227736

+
intron-3CDSENST00000376055ENST00000376075BCL2L1chr20

30309458

-COX4I2chr20

30227736

+
intron-3UTRENST00000376055ENST00000490030BCL2L1chr20

30309458

-COX4I2chr20

30227736

+

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-COX4I2


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)
BCL2L1chr2030309457-COX4I2chr2030227735+5.29E-101
BCL2L1chr2030309457-COX4I2chr2030227735+5.29E-101

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.
genomic feature

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.
genomic feature of top 1%

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Fusion Protein Features for BCL2L1-COX4I2


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr20:30309458/chr20:30227736)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000307677-23129_148188234.0MotifNote=BH1
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000307677-234_24188234.0MotifNote=BH4
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000307677-2386_100188234.0MotifNote=BH3
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000376062-12129_148188234.0MotifNote=BH1
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000376062-124_24188234.0MotifNote=BH4
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000376062-1286_100188234.0MotifNote=BH3
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000420653-23129_148188234.0MotifNote=BH1
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000420653-234_24188234.0MotifNote=BH4
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000420653-2386_100188234.0MotifNote=BH3
TgeneCOX4I2chr20:30309458chr20:30227736ENST0000037607515127_17127172.0Topological domainMitochondrial intermembrane
TgeneCOX4I2chr20:30309458chr20:30227736ENST000003760751529_10027172.0Topological domainMitochondrial matrix
TgeneCOX4I2chr20:30309458chr20:30227736ENST0000037607515101_12627172.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000307677-23180_195188234.0MotifNote=BH2
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000376055-13129_1480171.0MotifNote=BH1
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000376055-13180_1950171.0MotifNote=BH2
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000376055-134_240171.0MotifNote=BH4
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000376055-1386_1000171.0MotifNote=BH3
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000376062-12180_195188234.0MotifNote=BH2
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000420653-23180_195188234.0MotifNote=BH2
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000307677-23210_226188234.0TransmembraneHelical
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000376055-13210_2260171.0TransmembraneHelical
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000376062-12210_226188234.0TransmembraneHelical
HgeneBCL2L1chr20:30309458chr20:30227736ENST00000420653-23210_226188234.0TransmembraneHelical


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Fusion Gene Sequence for BCL2L1-COX4I2


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-COX4I2


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-COX4I2


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

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Related Diseases for BCL2L1-COX4I2


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
TgeneC2675184Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0751651Mitochondrial Diseases1GENOMICS_ENGLAND