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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 3544

FusionGeneSummary for ATRX_BCL2

check button Fusion gene summary
Fusion gene informationFusion gene name: ATRX_BCL2
Fusion gene ID: 3544
HgeneTgene
Gene symbol

ATRX

BCL2

Gene ID

546

596

Gene nameATRX, chromatin remodelerBCL2, apoptosis regulator
SynonymsJMS|MRX52|RAD54|RAD54L|XH2|XNP|ZNF-HXBcl-2|PPP1R50
Cytomap

Xq21.1

18q21.33

Type of geneprotein-codingprotein-coding
Descriptiontranscriptional regulator ATRXATP-dependent helicase ATRXX-linked helicase IIX-linked nuclear proteinalpha thalassemia/mental retardation syndrome X-linked (RAD54 homolog, S. cerevisiae)apoptosis regulator Bcl-2B-cell CLL/lymphoma 2protein phosphatase 1, regulatory subunit 50
Modification date2018051920180527
UniProtAcc

P46100

P10415

Ensembl transtripts involved in fusion geneENST00000373344, ENST00000395603, 
ENST00000480283, ENST00000373341, 
ENST00000398117, ENST00000333681, 
ENST00000590515, ENST00000589955, 
ENST00000444484, 
Fusion gene scores* DoF score9 X 4 X 6=2164 X 2 X 4=32
# samples 94
** MAII scorelog2(9/216*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ATRX [Title/Abstract] AND BCL2 [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)

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

GO:0006334

nucleosome assembly

20651253

HgeneATRX

GO:0006338

chromatin remodeling

20651253

TgeneBCL2

GO:0000209

protein polyubiquitination

16717086

TgeneBCL2

GO:0006915

apoptotic process

36599|8022822

TgeneBCL2

GO:0008625

extrinsic apoptotic signaling pathway via death domain receptors

10597216

TgeneBCL2

GO:0009636

response to toxic substance

16307838|16717086

TgeneBCL2

GO:0010039

response to iron ion

11264898

TgeneBCL2

GO:0022898

regulation of transmembrane transporter activity

9219694

TgeneBCL2

GO:0030307

positive regulation of cell growth

8022822

TgeneBCL2

GO:0032848

negative regulation of cellular pH reduction

10506221

TgeneBCL2

GO:0034097

response to cytokine

9184696

TgeneBCL2

GO:0035094

response to nicotine

12421819

TgeneBCL2

GO:0042100

B cell proliferation

1373874

TgeneBCL2

GO:0042493

response to drug

36599

TgeneBCL2

GO:0043066

negative regulation of apoptotic process

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

TgeneBCL2

GO:0043496

regulation of protein homodimerization activity

9111042

TgeneBCL2

GO:0043497

regulation of protein heterodimerization activity

9111042

TgeneBCL2

GO:0043524

negative regulation of neuron apoptotic process

7546744

TgeneBCL2

GO:0051607

defense response to virus

10620603

TgeneBCL2

GO:0051924

regulation of calcium ion transport

8022822

TgeneBCL2

GO:0070059

intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress

15776018

TgeneBCL2

GO:2001243

negative regulation of intrinsic apoptotic signaling pathway

11684014


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLGGTCGA-DB-A4XF-01AATRXchrX

77041468

-BCL2chr18

60795992

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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
Frame-shiftENST00000373344ENST00000398117ATRXchrX

77041468

-BCL2chr18

60795992

-
Frame-shiftENST00000373344ENST00000333681ATRXchrX

77041468

-BCL2chr18

60795992

-
5CDS-5UTRENST00000373344ENST00000590515ATRXchrX

77041468

-BCL2chr18

60795992

-
5CDS-intronENST00000373344ENST00000589955ATRXchrX

77041468

-BCL2chr18

60795992

-
5CDS-intronENST00000373344ENST00000444484ATRXchrX

77041468

-BCL2chr18

60795992

-
Frame-shiftENST00000395603ENST00000398117ATRXchrX

77041468

-BCL2chr18

60795992

-
Frame-shiftENST00000395603ENST00000333681ATRXchrX

77041468

-BCL2chr18

60795992

-
5CDS-5UTRENST00000395603ENST00000590515ATRXchrX

77041468

-BCL2chr18

60795992

-
5CDS-intronENST00000395603ENST00000589955ATRXchrX

77041468

-BCL2chr18

60795992

-
5CDS-intronENST00000395603ENST00000444484ATRXchrX

77041468

-BCL2chr18

60795992

-
5UTR-3CDSENST00000480283ENST00000398117ATRXchrX

77041468

-BCL2chr18

60795992

-
5UTR-3CDSENST00000480283ENST00000333681ATRXchrX

77041468

-BCL2chr18

60795992

-
5UTR-5UTRENST00000480283ENST00000590515ATRXchrX

77041468

-BCL2chr18

60795992

-
5UTR-intronENST00000480283ENST00000589955ATRXchrX

77041468

-BCL2chr18

60795992

-
5UTR-intronENST00000480283ENST00000444484ATRXchrX

77041468

-BCL2chr18

60795992

-
intron-3CDSENST00000373341ENST00000398117ATRXchrX

77041468

-BCL2chr18

60795992

-
intron-3CDSENST00000373341ENST00000333681ATRXchrX

77041468

-BCL2chr18

60795992

-
intron-5UTRENST00000373341ENST00000590515ATRXchrX

77041468

-BCL2chr18

60795992

-
intron-intronENST00000373341ENST00000589955ATRXchrX

77041468

-BCL2chr18

60795992

-
intron-intronENST00000373341ENST00000444484ATRXchrX

77041468

-BCL2chr18

60795992

-

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FusionProtFeatures for ATRX_BCL2


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

P46100

BCL2

P10415

Suppresses apoptosis in a variety of cell systemsincluding factor-dependent lymphohematopoietic and neural cells.Regulates cell death by controlling the mitochondrial membranepermeability. Appears to function in a feedback loop system withcaspases. Inhibits caspase activity either by preventing therelease of cytochrome c from the mitochondria and/or by binding tothe apoptosis-activating factor (APAF-1). May attenuateinflammation by impairing NLRP1-inflammasome activation, henceCASP1 activation and IL1B release (PubMed:17418785).{ECO:0000269|PubMed:17418785, ECO:0000269|PubMed:18570871}.

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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FusionGeneSequence for ATRX_BCL2


check button 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 ATRX_BCL2


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
ATRXEIF4A2, EZH2, CCSER2, KIAA1377, LUC7L2, PTN, PTPN4, RAD51, SMC1A, CBX5, H3F3A, H3F3B, DAXX, HDAC4, HIST1H3A, WRN, CALM1, SVIL, ZBED1, HIST2H3C, BLM, NEK1, ZNF512B, PRKDC, RAD50, XRCC5, MRE11A, XRCC6, SUPT16H, NBN, SSRP1, HIST1H4J, HIST2H2BE, RPA1, TP53, HIST1H1C, RAD9A, HIST1H2BL, HIST1H2AB, RAD1, PML, NSD1, SUMO2, TMPO, CNOT1, LRRK2, H2AFY, SNW1, ZNF274, TRIM28, SETDB1, BMI1, AURKA, HIST1H4A, WDR1, EAF1, DDX20, NAF1, EIF2AK1, AP3B1, POLD1, RBM14, MFAP1BCL2BNIPL, BNIP2, SMN1, TP53BP2, RTN4, BECN1, BIK, HRK, BID, PMAIP1, BCL2L11, BBC3, BAD, ITPR1, BAX, SERPINB8, CASP3, MYC, BCL2L1, SOD1, NR4A1, BAK1, SPNS1, CAPN2, RRAS, TP53AIP1, BCL2L10, RAF1, TOMM20, BLK, RAD9A, BCAP31, IRS1, IRS2, PSEN1, ITM2B, BMF, CDK1, HSPA1A, PIN1, PPP2R5A, TMBIM6, MOAP1, PPP2CA, CASP8, AVEN, CASP2, FKBP8, PPP3CA, DYNLL1, BNIP3, BNIP1, PARP1, BAG1, BNIP3L, BLID, PARK2, TP53, HSP90AA1, ITLN1, CISD2, PPP1CA, PPP1CB, PPP1CC, MEX3D, HNRNPD, ATG12, BFAR, BRCA1, AMBRA1, PML, CRYAB, IKBKB, CHUK, HIF1A, MAPK8, IKBKG, MDM4, PPP3CC, SQSTM1, BAG3, KEAP1, PPID, KRAS, BCL2, ATP2A3, VDAC1, GIMAP5, NMT2, MAPK1, PPARA, MAT2A, UBE2I, BARD1, CDK4, RTN3


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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RelatedDrugs for ATRX_BCL2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneBCL2P10415DB01050IbuprofenApoptosis regulator Bcl-2small moleculeapproved
TgeneBCL2P10415DB01367RasagilineApoptosis regulator Bcl-2small moleculeapproved
TgeneBCL2P10415DB01248DocetaxelApoptosis regulator Bcl-2small moleculeapproved|investigational
TgeneBCL2P10415DB08871EribulinApoptosis regulator Bcl-2small moleculeapproved|investigational
TgeneBCL2P10415DB09213DexibuprofenApoptosis regulator Bcl-2small moleculeapproved|investigational
TgeneBCL2P10415DB06756Glycine betaineApoptosis regulator Bcl-2small moleculeapproved|nutraceutical
TgeneBCL2P10415DB01229PaclitaxelApoptosis regulator Bcl-2small moleculeapproved|vet_approved

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RelatedDiseases for ATRX_BCL2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATRXC1845055ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED11CTD_human;ORPHANET;UNIPROT
HgeneATRXC0796003Juberg-Marsidi syndrome5CTD_human;ORPHANET;UNIPROT
HgeneATRXC0017638Glioma2CTD_human
HgeneATRXC0027819Neuroblastoma2CTD_human
HgeneATRXC0010417Cryptorchidism1CTD_human;HPO
HgeneATRXC0010606Adenoid Cystic Carcinoma1CTD_human
HgeneATRXC0018273Growth Disorders1CTD_human
HgeneATRXC0030297Pancreatic Neoplasm1CTD_human
HgeneATRXC0030846Penile Diseases1CTD_human
HgeneATRXC0039978Thoracic Diseases1CTD_human
HgeneATRXC0206754Neuroendocrine Tumors1CTD_human
HgeneATRXC0376634Craniofacial Abnormalities1CTD_human
HgeneATRXC1136249Mental Retardation, X-Linked1CTD_human
HgeneATRXC3463824MYELODYSPLASTIC SYNDROME1CTD_human;HPO
TgeneBCL2C0011581Depressive disorder5PSYGENET
TgeneBCL2C0005586Bipolar Disorder3PSYGENET
TgeneBCL2C0007621Neoplastic Cell Transformation3CTD_human
TgeneBCL2C0009375Colonic Neoplasms3CTD_human
TgeneBCL2C1458155Mammary Neoplasms3CTD_human
TgeneBCL2C0001430Adenoma2CTD_human
TgeneBCL2C0004352Autistic Disorder2CTD_human
TgeneBCL2C0011853Diabetes Mellitus, Experimental2CTD_human
TgeneBCL2C0015923Fetal Alcohol Syndrome2PSYGENET
TgeneBCL2C0023434Chronic Lymphocytic Leukemia2CTD_human
TgeneBCL2C0024301Lymphoma, Follicular2CTD_human;ORPHANET
TgeneBCL2C0024305Lymphoma, Non-Hodgkin2CTD_human
TgeneBCL2C0027540Necrosis2CTD_human
TgeneBCL2C0027746Nerve Degeneration2CTD_human
TgeneBCL2C0036341Schizophrenia2PSYGENET
TgeneBCL2C0853193Bipolar I disorder2PSYGENET
TgeneBCL2C0001418Adenocarcinoma1CTD_human
TgeneBCL2C0002395Alzheimer's Disease1CTD_human
TgeneBCL2C0004096Asthma1CTD_human
TgeneBCL2C0004509Azoospermia1CTD_human
TgeneBCL2C0009404Colorectal Neoplasms1CTD_human
TgeneBCL2C0011616Contact Dermatitis1CTD_human
TgeneBCL2C0011860Diabetes Mellitus, Non-Insulin-Dependent1CTD_human
TgeneBCL2C0014859Esophageal Neoplasms1CTD_human
TgeneBCL2C0016978gallbladder neoplasm1CTD_human
TgeneBCL2C0018671Head and Neck Neoplasms1CTD_human
TgeneBCL2C0020538Hypertensive disease1CTD_human
TgeneBCL2C0021364Male infertility1CTD_human
TgeneBCL2C0021841Intestinal Neoplasms1CTD_human
TgeneBCL2C0023186Learning Disorders1CTD_human
TgeneBCL2C0023467Leukemia, Myelocytic, Acute1CTD_human
TgeneBCL2C0023891Liver Cirrhosis, Alcoholic1CTD_human
TgeneBCL2C0023904Liver Neoplasms, Experimental1CTD_human
TgeneBCL2C0025261Memory Disorders1CTD_human
TgeneBCL2C0025568Metaplasia1CTD_human
TgeneBCL2C0026764Multiple Myeloma1CTD_human
TgeneBCL2C0027051Myocardial Infarction1CTD_human
TgeneBCL2C0029422Osteochondrodysplasias1CTD_human
TgeneBCL2C0032460Polycystic Ovary Syndrome1CTD_human
TgeneBCL2C0033578Prostatic Neoplasms1CTD_human
TgeneBCL2C0035126Reperfusion Injury1CTD_human
TgeneBCL2C0035304Retinal Degeneration1CTD_human
TgeneBCL2C0037579Soft Tissue Neoplasms1CTD_human
TgeneBCL2C0039101synovial sarcoma1CTD_human
TgeneBCL2C0079744Diffuse Large B-Cell Lymphoma1CTD_human
TgeneBCL2C0162820Dermatitis, Allergic Contact1CTD_human
TgeneBCL2C0206637Chondrosarcoma, Mesenchymal1CTD_human
TgeneBCL2C0206681Adenocarcinoma, Clear Cell1CTD_human
TgeneBCL2C0242350Erectile dysfunction1CTD_human
TgeneBCL2C0276535AIDS with Kaposi's sarcoma1CTD_human
TgeneBCL2C0345967Malignant mesothelioma1CTD_human
TgeneBCL2C2937358Cerebral Hemorrhage1CTD_human
TgeneBCL2C2985290Fetal Alcohol Spectrum Disorders1PSYGENET