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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:BCL2-TMPRSS6 (FusionGDB2 ID:HG596TG164656)

Fusion Gene Summary for BCL2-TMPRSS6

check button Fusion gene summary
Fusion gene informationFusion gene name: BCL2-TMPRSS6
Fusion gene ID: hg596tg164656
HgeneTgene
Gene symbol

BCL2

TMPRSS6

Gene ID

596

164656

Gene nameBCL2 apoptosis regulatortransmembrane serine protease 6
SynonymsBcl-2|PPP1R50IRIDA|MT2
Cytomap('BCL2')('TMPRSS6')

18q21.33

22q12.3

Type of geneprotein-codingprotein-coding
Descriptionapoptosis regulator Bcl-2B-cell CLL/lymphoma 2protein phosphatase 1, regulatory subunit 50transmembrane protease serine 6matriptase-2membrane-bound mosaic serine proteinase matriptase-2transmembrane protease, serine 6type II transmembrane serine protease 6
Modification date2020032920200313
UniProtAcc

P10415

.
Ensembl transtripts involved in fusion geneENST00000333681, ENST00000398117, 
ENST00000444484, ENST00000589955, 
ENST00000590515, 
Fusion gene scores* DoF score7 X 5 X 3=1053 X 3 X 3=27
# samples 74
** MAII scorelog2(7/105*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: BCL2 [Title/Abstract] AND TMPRSS6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointBCL2(60793552)-TMPRSS6(37485589), # samples:1
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
HgeneBCL2

GO:0000209

protein polyubiquitination

16717086

HgeneBCL2

GO:0006915

apoptotic process

36599|8022822

HgeneBCL2

GO:0008625

extrinsic apoptotic signaling pathway via death domain receptors

10597216

HgeneBCL2

GO:0009636

response to toxic substance

16307838|16717086

HgeneBCL2

GO:0010039

response to iron ion

11264898

HgeneBCL2

GO:0022898

regulation of transmembrane transporter activity

9219694

HgeneBCL2

GO:0030307

positive regulation of cell growth

8022822

HgeneBCL2

GO:0032848

negative regulation of cellular pH reduction

10506221

HgeneBCL2

GO:0034097

response to cytokine

9184696

HgeneBCL2

GO:0035094

response to nicotine

12421819

HgeneBCL2

GO:0042100

B cell proliferation

1373874

HgeneBCL2

GO:0042493

response to drug

36599

HgeneBCL2

GO:0043066

negative regulation of apoptotic process

1373874|7650367|7772249|8050499|8080725|9027314|9219694|10506221|10620603|15776018|20041405

HgeneBCL2

GO:0043524

negative regulation of neuron apoptotic process

7546744

HgeneBCL2

GO:0051607

defense response to virus

10620603

HgeneBCL2

GO:0051924

regulation of calcium ion transport

8022822

HgeneBCL2

GO:0070059

intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress

15776018

HgeneBCL2

GO:2001243

negative regulation of intrinsic apoptotic signaling pathway

11684014



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


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Fusion Gene ORF analysis for BCL2-TMPRSS6

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

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 BCL2-TMPRSS6


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 BCL2-TMPRSS6


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/:60793552/:37485589)
- 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
BCL2

P10415

.
FUNCTION: Suppresses apoptosis in a variety of cell systems including factor-dependent lymphohematopoietic and neural cells. Regulates cell death by controlling the mitochondrial membrane permeability. Appears to function in a feedback loop system with caspases. Inhibits caspase activity either by preventing the release of cytochrome c from the mitochondria and/or by binding to the apoptosis-activating factor (APAF-1). May attenuate inflammation by impairing NLRP1-inflammasome activation, hence CASP1 activation and IL1B release (PubMed:17418785). {ECO:0000269|PubMed:17418785, ECO:0000269|PubMed:18570871}.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 BCL2-TMPRSS6


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 BCL2-TMPRSS6


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 BCL2-TMPRSS6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneBCL2P10415DB01050IbuprofenModulatorSmall moleculeApproved
HgeneBCL2P10415DB01367RasagilineActivatorSmall moleculeApproved
HgeneBCL2P10415DB01248DocetaxelSmall moleculeApproved|Investigational
HgeneBCL2P10415DB08871EribulinSmall moleculeApproved|Investigational
HgeneBCL2P10415DB09213DexibuprofenNegative modulatorSmall moleculeApproved|Investigational
HgeneBCL2P10415DB09401IsosorbideSmall moleculeApproved|Investigational
HgeneBCL2P10415DB11581VenetoclaxInhibitorSmall moleculeApproved|Investigational
HgeneBCL2P10415DB06756Glycine betaineSmall moleculeApproved|Nutraceutical
HgeneBCL2P10415DB01229PaclitaxelInhibitorSmall moleculeApproved|Vet_approved

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Related Diseases for BCL2-TMPRSS6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneBCL2C0011581Depressive disorder5PSYGENET
HgeneBCL2C0024301Lymphoma, Follicular4CTD_human;ORPHANET
HgeneBCL2C0005586Bipolar Disorder3PSYGENET
HgeneBCL2C0006142Malignant neoplasm of breast3CTD_human
HgeneBCL2C0007102Malignant tumor of colon3CTD_human
HgeneBCL2C0007621Neoplastic Cell Transformation3CTD_human
HgeneBCL2C0009375Colonic Neoplasms3CTD_human
HgeneBCL2C0678222Breast Carcinoma3CTD_human
HgeneBCL2C1257931Mammary Neoplasms, Human3CTD_human
HgeneBCL2C1458155Mammary Neoplasms3CTD_human
HgeneBCL2C4704874Mammary Carcinoma, Human3CTD_human
HgeneBCL2C0001430Adenoma2CTD_human
HgeneBCL2C0002152Alloxan Diabetes2CTD_human
HgeneBCL2C0004352Autistic Disorder2CTD_human
HgeneBCL2C0011853Diabetes Mellitus, Experimental2CTD_human
HgeneBCL2C0015923Fetal Alcohol Syndrome2PSYGENET
HgeneBCL2C0019207Hepatoma, Morris2CTD_human
HgeneBCL2C0019208Hepatoma, Novikoff2CTD_human
HgeneBCL2C0023434Chronic Lymphocytic Leukemia2CTD_human
HgeneBCL2C0023904Liver Neoplasms, Experimental2CTD_human
HgeneBCL2C0024302Reticulosarcoma2CTD_human
HgeneBCL2C0024304Lymphoma, Mixed-Cell2CTD_human
HgeneBCL2C0024305Lymphoma, Non-Hodgkin2CTD_human;UNIPROT
HgeneBCL2C0024306Lymphoma, Undifferentiated2CTD_human
HgeneBCL2C0027540Necrosis2CTD_human
HgeneBCL2C0027746Nerve Degeneration2CTD_human
HgeneBCL2C0036341Schizophrenia2PSYGENET
HgeneBCL2C0038433Streptozotocin Diabetes2CTD_human
HgeneBCL2C0079740High Grade Lymphoma (neoplasm)2CTD_human
HgeneBCL2C0079741Lymphoma, Intermediate-Grade2CTD_human
HgeneBCL2C0079745Lymphoma, Large-Cell, Follicular2CTD_human
HgeneBCL2C0079747Low Grade Lymphoma (neoplasm)2CTD_human
HgeneBCL2C0079757Diffuse Mixed-Cell Lymphoma2CTD_human
HgeneBCL2C0079758Lymphoma, Mixed-Cell, Follicular2CTD_human
HgeneBCL2C0079765Lymphoma, Small Cleaved-Cell, Follicular2CTD_human
HgeneBCL2C0079770Lymphoma, Small Noncleaved-Cell2CTD_human
HgeneBCL2C0086404Experimental Hepatoma2CTD_human
HgeneBCL2C0205646Adenoma, Basal Cell2CTD_human
HgeneBCL2C0205647Follicular adenoma2CTD_human
HgeneBCL2C0205648Adenoma, Microcystic2CTD_human
HgeneBCL2C0205649Adenoma, Monomorphic2CTD_human
HgeneBCL2C0205650Papillary adenoma2CTD_human
HgeneBCL2C0205651Adenoma, Trabecular2CTD_human
HgeneBCL2C0235874Disease Exacerbation2CTD_human
HgeneBCL2C0853193Bipolar I disorder2PSYGENET
HgeneBCL2C1956130Lymphoma, Follicular, Grade 12CTD_human
HgeneBCL2C1956131Lymphoma, Follicular, Grade 32CTD_human
HgeneBCL2C1956132Lymphoma, Follicular, Grade 22CTD_human
HgeneBCL2C3714542Lymphoma, Diffuse2CTD_human
HgeneBCL2C4721532Lymphoma, Non-Hodgkin, Familial2CTD_human
HgeneBCL2C0001418Adenocarcinoma1CTD_human
HgeneBCL2C0002395Alzheimer's Disease1CTD_human
HgeneBCL2C0004096Asthma1CTD_human
HgeneBCL2C0004509Azoospermia1CTD_human
HgeneBCL2C0007097Carcinoma1CTD_human
HgeneBCL2C0009402Colorectal Carcinoma1CTD_human
HgeneBCL2C0009404Colorectal Neoplasms1CTD_human
HgeneBCL2C0011265Presenile dementia1CTD_human
HgeneBCL2C0011616Contact Dermatitis1CTD_human
HgeneBCL2C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
HgeneBCL2C0013366Dyschondroplasias1CTD_human
HgeneBCL2C0014859Esophageal Neoplasms1CTD_human
HgeneBCL2C0016978gallbladder neoplasm1CTD_human
HgeneBCL2C0018671Head and Neck Neoplasms1CTD_human
HgeneBCL2C0018675Head Neoplasms1CTD_human
HgeneBCL2C0020538Hypertensive disease1CTD_human
HgeneBCL2C0021364Male infertility1CTD_human
HgeneBCL2C0021841Intestinal Neoplasms1CTD_human
HgeneBCL2C0023186Learning Disorders1CTD_human
HgeneBCL2C0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneBCL2C0023891Liver Cirrhosis, Alcoholic1CTD_human
HgeneBCL2C0025237Melnick-Needles Syndrome1CTD_human
HgeneBCL2C0025261Memory Disorders1CTD_human
HgeneBCL2C0025568Metaplasia1CTD_human
HgeneBCL2C0026760Multiple Epiphyseal Dysplasia1CTD_human
HgeneBCL2C0026764Multiple Myeloma1CTD_human
HgeneBCL2C0026998Acute Myeloid Leukemia, M11CTD_human
HgeneBCL2C0027051Myocardial Infarction1CTD_human
HgeneBCL2C0027533Neck Neoplasms1CTD_human
HgeneBCL2C0029422Osteochondrodysplasias1CTD_human
HgeneBCL2C0032460Polycystic Ovary Syndrome1CTD_human
HgeneBCL2C0033578Prostatic Neoplasms1CTD_human
HgeneBCL2C0035126Reperfusion Injury1CTD_human
HgeneBCL2C0035304Retinal Degeneration1CTD_human
HgeneBCL2C0036391Schwartz-Jampel Syndrome1CTD_human
HgeneBCL2C0037579Soft Tissue Neoplasms1CTD_human
HgeneBCL2C0038015Spondyloepiphyseal Dysplasia1CTD_human
HgeneBCL2C0039101synovial sarcoma1CTD_human
HgeneBCL2C0079744Diffuse Large B-Cell Lymphoma1CTD_human
HgeneBCL2C0153452Malignant neoplasm of gallbladder1CTD_human
HgeneBCL2C0162351Contact hypersensitivity1CTD_human
HgeneBCL2C0162820Dermatitis, Allergic Contact1CTD_human
HgeneBCL2C0205641Adenocarcinoma, Basal Cell1CTD_human
HgeneBCL2C0205642Adenocarcinoma, Oxyphilic1CTD_human
HgeneBCL2C0205643Carcinoma, Cribriform1CTD_human
HgeneBCL2C0205644Carcinoma, Granular Cell1CTD_human
HgeneBCL2C0205645Adenocarcinoma, Tubular1CTD_human
HgeneBCL2C0205696Anaplastic carcinoma1CTD_human
HgeneBCL2C0205697Carcinoma, Spindle-Cell1CTD_human
HgeneBCL2C0205698Undifferentiated carcinoma1CTD_human
HgeneBCL2C0205699Carcinomatosis1CTD_human
HgeneBCL2C0206637Mesenchymal Chondrosarcoma1CTD_human
HgeneBCL2C0206681Adenocarcinoma, Clear Cell1CTD_human
HgeneBCL2C0233794Memory impairment1CTD_human
HgeneBCL2C0242350Erectile dysfunction1CTD_human
HgeneBCL2C0276496Familial Alzheimer Disease (FAD)1CTD_human
HgeneBCL2C0276535AIDS with Kaposi's sarcoma1CTD_human
HgeneBCL2C0278996Malignant Head and Neck Neoplasm1CTD_human
HgeneBCL2C0334660Angioendotheliomatosis1ORPHANET
HgeneBCL2C0345967Malignant mesothelioma1CTD_human
HgeneBCL2C0346627Intestinal Cancer1CTD_human
HgeneBCL2C0376358Malignant neoplasm of prostate1CTD_human
HgeneBCL2C0432272Van Buchem disease1CTD_human
HgeneBCL2C0494463Alzheimer Disease, Late Onset1CTD_human
HgeneBCL2C0546126Acute Confusional Senile Dementia1CTD_human
HgeneBCL2C0546837Malignant neoplasm of esophagus1CTD_human
HgeneBCL2C0746787Cancer of Neck1CTD_human
HgeneBCL2C0750900Alzheimer's Disease, Focal Onset1CTD_human
HgeneBCL2C0750901Alzheimer Disease, Early Onset1CTD_human
HgeneBCL2C0751177Cancer of Head1CTD_human
HgeneBCL2C0751262Adult Learning Disorders1CTD_human
HgeneBCL2C0751263Learning Disturbance1CTD_human
HgeneBCL2C0751265Learning Disabilities1CTD_human
HgeneBCL2C0751292Age-Related Memory Disorders1CTD_human
HgeneBCL2C0751293Memory Disorder, Semantic1CTD_human
HgeneBCL2C0751294Memory Disorder, Spatial1CTD_human
HgeneBCL2C0751295Memory Loss1CTD_human
HgeneBCL2C0848676Subfertility, Male1CTD_human
HgeneBCL2C0887900Upper Aerodigestive Tract Neoplasms1CTD_human
HgeneBCL2C0917731Male sterility1CTD_human
HgeneBCL2C1136382Sclerocystic Ovaries1CTD_human
HgeneBCL2C1330966Developmental Academic Disorder1CTD_human
HgeneBCL2C1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
HgeneBCL2C1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1CTD_human
HgeneBCL2C2931456Prostate cancer, familial1CTD_human
HgeneBCL2C2937358Cerebral Hemorrhage1CTD_human
HgeneBCL2C2985290Fetal Alcohol Spectrum Disorders1PSYGENET
HgeneBCL2C3541456Spondyloepiphyseal Dysplasia Tarda, X-Linked1CTD_human
HgeneBCL2C4551479Schwartz-Jampel Syndrome, Type 11CTD_human
HgeneBCL2C4722327PROSTATE CANCER, HEREDITARY, 11CTD_human
TgeneC0085576Iron-Refractory Iron Deficiency Anemia13CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0162316Iron deficiency anemia2CTD_human