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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:BACH2-BCL2L1 (FusionGDB2 ID:HG60468TG598)

Fusion Gene Summary for BACH2-BCL2L1

check button Fusion gene summary
Fusion gene informationFusion gene name: BACH2-BCL2L1
Fusion gene ID: hg60468tg598
HgeneTgene
Gene symbol

BACH2

BCL2L1

Gene ID

60468

598

Gene nameBTB domain and CNC homolog 2BCL2 like 1
SynonymsBTBD25|IMD60BCL-XL/S|BCL2L|BCLX|Bcl-X|PPP1R52
Cytomap('BACH2')('BCL2L1')

6q15

20q11.21

Type of geneprotein-codingprotein-coding
Descriptiontranscription regulator protein BACH2BTB and CNC homolog 2BTB and CNC homology 1, basic leucine zipper transcription factor 2bcl-2-like protein 1apoptosis regulator Bcl-Xprotein phosphatase 1, regulatory subunit 52
Modification date2020031320200327
UniProtAcc

Q9BYV9

.
Ensembl transtripts involved in fusion geneENST00000257749, ENST00000343122, 
ENST00000470301, ENST00000537989, 
Fusion gene scores* DoF score6 X 5 X 5=15010 X 5 X 10=500
# samples 611
** MAII scorelog2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/500*10)=-2.18442457113743
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: BACH2 [Title/Abstract] AND BCL2L1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint
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
TgeneBCL2L1

GO:0001836

release of cytochrome c from mitochondria

9843949

TgeneBCL2L1

GO:0019050

suppression by virus of host apoptotic process

15231831

TgeneBCL2L1

GO:0034097

response to cytokine

9184696

TgeneBCL2L1

GO:0043066

negative regulation of apoptotic process

7650367|9388232

TgeneBCL2L1

GO:0046902

regulation of mitochondrial membrane permeability

9843949

TgeneBCL2L1

GO:0051881

regulation of mitochondrial membrane potential

9843949

TgeneBCL2L1

GO:1900118

negative regulation of execution phase of apoptosis

20673843

TgeneBCL2L1

GO:1902042

negative regulation of extrinsic apoptotic signaling pathway via death domain receptors

26582200

TgeneBCL2L1

GO:1902230

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

16608847

TgeneBCL2L1

GO:1902236

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

29507230

TgeneBCL2L1

GO:1903077

negative regulation of protein localization to plasma membrane

21041309

TgeneBCL2L1

GO:2001243

negative regulation of intrinsic apoptotic signaling pathway

12011449



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
ChimerKB4..BACH2chr6

91006627

-BCL2L1chr20

91006627

-


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Fusion Gene ORF analysis for BACH2-BCL2L1

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-intronENST00000257749ENST00000307677BACH2chr6

91006627

-BCL2L1chr20

91006627

-
intron-intronENST00000257749ENST00000376055BACH2chr6

91006627

-BCL2L1chr20

91006627

-
intron-intronENST00000257749ENST00000376062BACH2chr6

91006627

-BCL2L1chr20

91006627

-
intron-intronENST00000257749ENST00000420653BACH2chr6

91006627

-BCL2L1chr20

91006627

-
intron-intronENST00000343122ENST00000307677BACH2chr6

91006627

-BCL2L1chr20

91006627

-
intron-intronENST00000343122ENST00000376055BACH2chr6

91006627

-BCL2L1chr20

91006627

-
intron-intronENST00000343122ENST00000376062BACH2chr6

91006627

-BCL2L1chr20

91006627

-
intron-intronENST00000343122ENST00000420653BACH2chr6

91006627

-BCL2L1chr20

91006627

-
intron-intronENST00000470301ENST00000307677BACH2chr6

91006627

-BCL2L1chr20

91006627

-
intron-intronENST00000470301ENST00000376055BACH2chr6

91006627

-BCL2L1chr20

91006627

-
intron-intronENST00000470301ENST00000376062BACH2chr6

91006627

-BCL2L1chr20

91006627

-
intron-intronENST00000470301ENST00000420653BACH2chr6

91006627

-BCL2L1chr20

91006627

-
intron-intronENST00000537989ENST00000307677BACH2chr6

91006627

-BCL2L1chr20

91006627

-
intron-intronENST00000537989ENST00000376055BACH2chr6

91006627

-BCL2L1chr20

91006627

-
intron-intronENST00000537989ENST00000376062BACH2chr6

91006627

-BCL2L1chr20

91006627

-
intron-intronENST00000537989ENST00000420653BACH2chr6

91006627

-BCL2L1chr20

91006627

-

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 BACH2-BCL2L1


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)


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Fusion Protein Features for BACH2-BCL2L1


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/:/:)
- 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
BACH2

Q9BYV9

.
FUNCTION: Transcriptional regulator that acts as repressor or activator (By similarity). Binds to Maf recognition elements (MARE) (By similarity). Plays an important role in coordinating transcription activation and repression by MAFK (By similarity). Induces apoptosis in response to oxidative stress through repression of the antiapoptotic factor HMOX1 (PubMed:17018862). Positively regulates the nuclear import of actin (By similarity). Is a key regulator of adaptive immunity, crucial for the maintenance of regulatory T-cell function and B-cell maturation (PubMed:28530713). {ECO:0000250|UniProtKB:P97303, ECO:0000269|PubMed:17018862, ECO:0000269|PubMed:28530713}.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

- 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 BACH2-BCL2L1


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 BACH2-BCL2L1


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 BACH2-BCL2L1


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 BACH2-BCL2L1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBACH2C0007570Celiac Disease1CTD_human
HgeneBACH2C0010346Crohn Disease1CTD_human
HgeneBACH2C0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
HgeneBACH2C0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneBACH2C0026998Acute Myeloid Leukemia, M11CTD_human
HgeneBACH2C0042900Vitiligo1CTD_human
HgeneBACH2C0086438Hypogammaglobulinemia1GENOMICS_ENGLAND
HgeneBACH2C0156147Crohn's disease of large bowel1CTD_human
HgeneBACH2C0205734Diabetes, Autoimmune1CTD_human
HgeneBACH2C0267380Crohn's disease of the ileum1CTD_human
HgeneBACH2C0342302Brittle diabetes1CTD_human
HgeneBACH2C0678202Regional enteritis1CTD_human
HgeneBACH2C0949272IIeocolitis1CTD_human
HgeneBACH2C1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
HgeneBACH2C3837958Diabetes Mellitus, Ketosis-Prone1CTD_human
HgeneBACH2C4554117Diabetes Mellitus, Sudden-Onset1CTD_human
TgeneC0019207Hepatoma, Morris2CTD_human
TgeneC0019208Hepatoma, Novikoff2CTD_human
TgeneC0023904Liver Neoplasms, Experimental2CTD_human
TgeneC0086404Experimental Hepatoma2CTD_human
TgeneC2239176Liver carcinoma2CTD_human
TgeneC0001430Adenoma1CTD_human
TgeneC0002152Alloxan Diabetes1CTD_human
TgeneC0007097Carcinoma1CTD_human
TgeneC0010417Cryptorchidism1CTD_human
TgeneC0011853Diabetes Mellitus, Experimental1CTD_human
TgeneC0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneC0018671Head and Neck Neoplasms1CTD_human
TgeneC0018675Head Neoplasms1CTD_human
TgeneC0023895Liver diseases1CTD_human
TgeneC0024121Lung Neoplasms1CTD_human
TgeneC0024623Malignant neoplasm of stomach1CTD_human
TgeneC0026764Multiple Myeloma1CTD_human
TgeneC0027051Myocardial Infarction1CTD_human
TgeneC0027533Neck Neoplasms1CTD_human
TgeneC0030297Pancreatic Neoplasm1CTD_human
TgeneC0038356Stomach Neoplasms1CTD_human
TgeneC0038433Streptozotocin Diabetes1CTD_human
TgeneC0086565Liver Dysfunction1CTD_human
TgeneC0149504Encephalopathy, Toxic1CTD_human
TgeneC0154659Toxic Encephalitis1CTD_human
TgeneC0205646Adenoma, Basal Cell1CTD_human
TgeneC0205647Follicular adenoma1CTD_human
TgeneC0205648Adenoma, Microcystic1CTD_human
TgeneC0205649Adenoma, Monomorphic1CTD_human
TgeneC0205650Papillary adenoma1CTD_human
TgeneC0205651Adenoma, Trabecular1CTD_human
TgeneC0205696Anaplastic carcinoma1CTD_human
TgeneC0205697Carcinoma, Spindle-Cell1CTD_human
TgeneC0205698Undifferentiated carcinoma1CTD_human
TgeneC0205699Carcinomatosis1CTD_human
TgeneC0235032Neurotoxicity Syndromes1CTD_human
TgeneC0242350Erectile dysfunction1CTD_human
TgeneC0242379Malignant neoplasm of lung1CTD_human
TgeneC0278996Malignant Head and Neck Neoplasm1CTD_human
TgeneC0346647Malignant neoplasm of pancreas1CTD_human
TgeneC0431663Bilateral Cryptorchidism1CTD_human
TgeneC0431664Unilateral Cryptorchidism1CTD_human
TgeneC0746787Cancer of Neck1CTD_human
TgeneC0751177Cancer of Head1CTD_human
TgeneC0887900Upper Aerodigestive Tract Neoplasms1CTD_human
TgeneC1384666hearing impairment1CTD_human
TgeneC1563730Abdominal Cryptorchidism1CTD_human
TgeneC1563731Inguinal Cryptorchidism1CTD_human
TgeneC1708349Hereditary Diffuse Gastric Cancer1CTD_human
TgeneC1862939AMYOTROPHIC LATERAL SCLEROSIS 11CTD_human
TgeneC1862941Amyotrophic Lateral Sclerosis, Sporadic1CTD_human
TgeneC2937358Cerebral Hemorrhage1CTD_human
TgeneC4551993Amyotrophic Lateral Sclerosis, Familial1CTD_human