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Fusion gene ID: 3544 |
FusionGeneSummary for ATRX_BCL2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: ATRX_BCL2 | Fusion gene ID: 3544 | Hgene | Tgene | Gene symbol | ATRX | BCL2 | Gene ID | 546 | 596 |
Gene name | ATRX, chromatin remodeler | BCL2, apoptosis regulator | |
Synonyms | JMS|MRX52|RAD54|RAD54L|XH2|XNP|ZNF-HX | Bcl-2|PPP1R50 | |
Cytomap | Xq21.1 | 18q21.33 | |
Type of gene | protein-coding | protein-coding | |
Description | transcriptional 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 date | 20180519 | 20180527 | |
UniProtAcc | P46100 | P10415 | |
Ensembl transtripts involved in fusion gene | ENST00000373344, ENST00000395603, ENST00000480283, ENST00000373341, | ENST00000398117, ENST00000333681, ENST00000590515, ENST00000589955, ENST00000444484, | |
Fusion gene scores | * DoF score | 9 X 4 X 6=216 | 4 X 2 X 4=32 |
# samples | 9 | 4 | |
** MAII score | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ATRX | GO:0006334 | nucleosome assembly | 20651253 |
Hgene | ATRX | GO:0006338 | chromatin remodeling | 20651253 |
Tgene | BCL2 | GO:0000209 | protein polyubiquitination | 16717086 |
Tgene | BCL2 | GO:0006915 | apoptotic process | 36599|8022822 |
Tgene | BCL2 | GO:0008625 | extrinsic apoptotic signaling pathway via death domain receptors | 10597216 |
Tgene | BCL2 | GO:0009636 | response to toxic substance | 16307838|16717086 |
Tgene | BCL2 | GO:0010039 | response to iron ion | 11264898 |
Tgene | BCL2 | GO:0022898 | regulation of transmembrane transporter activity | 9219694 |
Tgene | BCL2 | GO:0030307 | positive regulation of cell growth | 8022822 |
Tgene | BCL2 | GO:0032848 | negative regulation of cellular pH reduction | 10506221 |
Tgene | BCL2 | GO:0034097 | response to cytokine | 9184696 |
Tgene | BCL2 | GO:0035094 | response to nicotine | 12421819 |
Tgene | BCL2 | GO:0042100 | B cell proliferation | 1373874 |
Tgene | BCL2 | GO:0042493 | response to drug | 36599 |
Tgene | BCL2 | GO:0043066 | negative regulation of apoptotic process | 1373874|7650367|7772249|8050499|8080725|9027314|9219694|10506221|10620603|15776018|20041405 |
Tgene | BCL2 | GO:0043496 | regulation of protein homodimerization activity | 9111042 |
Tgene | BCL2 | GO:0043497 | regulation of protein heterodimerization activity | 9111042 |
Tgene | BCL2 | GO:0043524 | negative regulation of neuron apoptotic process | 7546744 |
Tgene | BCL2 | GO:0051607 | defense response to virus | 10620603 |
Tgene | BCL2 | GO:0051924 | regulation of calcium ion transport | 8022822 |
Tgene | BCL2 | GO:0070059 | intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress | 15776018 |
Tgene | BCL2 | GO:2001243 | negative regulation of intrinsic apoptotic signaling pathway | 11684014 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | LGG | TCGA-DB-A4XF-01A | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
Frame-shift | ENST00000373344 | ENST00000398117 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
Frame-shift | ENST00000373344 | ENST00000333681 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
5CDS-5UTR | ENST00000373344 | ENST00000590515 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
5CDS-intron | ENST00000373344 | ENST00000589955 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
5CDS-intron | ENST00000373344 | ENST00000444484 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
Frame-shift | ENST00000395603 | ENST00000398117 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
Frame-shift | ENST00000395603 | ENST00000333681 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
5CDS-5UTR | ENST00000395603 | ENST00000590515 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
5CDS-intron | ENST00000395603 | ENST00000589955 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
5CDS-intron | ENST00000395603 | ENST00000444484 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
5UTR-3CDS | ENST00000480283 | ENST00000398117 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
5UTR-3CDS | ENST00000480283 | ENST00000333681 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
5UTR-5UTR | ENST00000480283 | ENST00000590515 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
5UTR-intron | ENST00000480283 | ENST00000589955 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
5UTR-intron | ENST00000480283 | ENST00000444484 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
intron-3CDS | ENST00000373341 | ENST00000398117 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
intron-3CDS | ENST00000373341 | ENST00000333681 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
intron-5UTR | ENST00000373341 | ENST00000590515 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
intron-intron | ENST00000373341 | ENST00000589955 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
intron-intron | ENST00000373341 | ENST00000444484 | ATRX | chrX | 77041468 | - | BCL2 | chr18 | 60795992 | - |
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FusionProtFeatures for ATRX_BCL2 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
ATRX | BCL2 |
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}. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for ATRX_BCL2 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ATRX | EIF4A2, 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, MFAP1 | BCL2 | BNIPL, 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 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for ATRX_BCL2 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | BCL2 | P10415 | DB01050 | Ibuprofen | Apoptosis regulator Bcl-2 | small molecule | approved |
Tgene | BCL2 | P10415 | DB01367 | Rasagiline | Apoptosis regulator Bcl-2 | small molecule | approved |
Tgene | BCL2 | P10415 | DB01248 | Docetaxel | Apoptosis regulator Bcl-2 | small molecule | approved|investigational |
Tgene | BCL2 | P10415 | DB08871 | Eribulin | Apoptosis regulator Bcl-2 | small molecule | approved|investigational |
Tgene | BCL2 | P10415 | DB09213 | Dexibuprofen | Apoptosis regulator Bcl-2 | small molecule | approved|investigational |
Tgene | BCL2 | P10415 | DB06756 | Glycine betaine | Apoptosis regulator Bcl-2 | small molecule | approved|nutraceutical |
Tgene | BCL2 | P10415 | DB01229 | Paclitaxel | Apoptosis regulator Bcl-2 | small molecule | approved|vet_approved |
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RelatedDiseases for ATRX_BCL2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ATRX | C1845055 | ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED | 11 | CTD_human;ORPHANET;UNIPROT |
Hgene | ATRX | C0796003 | Juberg-Marsidi syndrome | 5 | CTD_human;ORPHANET;UNIPROT |
Hgene | ATRX | C0017638 | Glioma | 2 | CTD_human |
Hgene | ATRX | C0027819 | Neuroblastoma | 2 | CTD_human |
Hgene | ATRX | C0010417 | Cryptorchidism | 1 | CTD_human;HPO |
Hgene | ATRX | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
Hgene | ATRX | C0018273 | Growth Disorders | 1 | CTD_human |
Hgene | ATRX | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
Hgene | ATRX | C0030846 | Penile Diseases | 1 | CTD_human |
Hgene | ATRX | C0039978 | Thoracic Diseases | 1 | CTD_human |
Hgene | ATRX | C0206754 | Neuroendocrine Tumors | 1 | CTD_human |
Hgene | ATRX | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Hgene | ATRX | C1136249 | Mental Retardation, X-Linked | 1 | CTD_human |
Hgene | ATRX | C3463824 | MYELODYSPLASTIC SYNDROME | 1 | CTD_human;HPO |
Tgene | BCL2 | C0011581 | Depressive disorder | 5 | PSYGENET |
Tgene | BCL2 | C0005586 | Bipolar Disorder | 3 | PSYGENET |
Tgene | BCL2 | C0007621 | Neoplastic Cell Transformation | 3 | CTD_human |
Tgene | BCL2 | C0009375 | Colonic Neoplasms | 3 | CTD_human |
Tgene | BCL2 | C1458155 | Mammary Neoplasms | 3 | CTD_human |
Tgene | BCL2 | C0001430 | Adenoma | 2 | CTD_human |
Tgene | BCL2 | C0004352 | Autistic Disorder | 2 | CTD_human |
Tgene | BCL2 | C0011853 | Diabetes Mellitus, Experimental | 2 | CTD_human |
Tgene | BCL2 | C0015923 | Fetal Alcohol Syndrome | 2 | PSYGENET |
Tgene | BCL2 | C0023434 | Chronic Lymphocytic Leukemia | 2 | CTD_human |
Tgene | BCL2 | C0024301 | Lymphoma, Follicular | 2 | CTD_human;ORPHANET |
Tgene | BCL2 | C0024305 | Lymphoma, Non-Hodgkin | 2 | CTD_human |
Tgene | BCL2 | C0027540 | Necrosis | 2 | CTD_human |
Tgene | BCL2 | C0027746 | Nerve Degeneration | 2 | CTD_human |
Tgene | BCL2 | C0036341 | Schizophrenia | 2 | PSYGENET |
Tgene | BCL2 | C0853193 | Bipolar I disorder | 2 | PSYGENET |
Tgene | BCL2 | C0001418 | Adenocarcinoma | 1 | CTD_human |
Tgene | BCL2 | C0002395 | Alzheimer's Disease | 1 | CTD_human |
Tgene | BCL2 | C0004096 | Asthma | 1 | CTD_human |
Tgene | BCL2 | C0004509 | Azoospermia | 1 | CTD_human |
Tgene | BCL2 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Tgene | BCL2 | C0011616 | Contact Dermatitis | 1 | CTD_human |
Tgene | BCL2 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
Tgene | BCL2 | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
Tgene | BCL2 | C0016978 | gallbladder neoplasm | 1 | CTD_human |
Tgene | BCL2 | C0018671 | Head and Neck Neoplasms | 1 | CTD_human |
Tgene | BCL2 | C0020538 | Hypertensive disease | 1 | CTD_human |
Tgene | BCL2 | C0021364 | Male infertility | 1 | CTD_human |
Tgene | BCL2 | C0021841 | Intestinal Neoplasms | 1 | CTD_human |
Tgene | BCL2 | C0023186 | Learning Disorders | 1 | CTD_human |
Tgene | BCL2 | C0023467 | Leukemia, Myelocytic, Acute | 1 | CTD_human |
Tgene | BCL2 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
Tgene | BCL2 | C0023904 | Liver Neoplasms, Experimental | 1 | CTD_human |
Tgene | BCL2 | C0025261 | Memory Disorders | 1 | CTD_human |
Tgene | BCL2 | C0025568 | Metaplasia | 1 | CTD_human |
Tgene | BCL2 | C0026764 | Multiple Myeloma | 1 | CTD_human |
Tgene | BCL2 | C0027051 | Myocardial Infarction | 1 | CTD_human |
Tgene | BCL2 | C0029422 | Osteochondrodysplasias | 1 | CTD_human |
Tgene | BCL2 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
Tgene | BCL2 | C0033578 | Prostatic Neoplasms | 1 | CTD_human |
Tgene | BCL2 | C0035126 | Reperfusion Injury | 1 | CTD_human |
Tgene | BCL2 | C0035304 | Retinal Degeneration | 1 | CTD_human |
Tgene | BCL2 | C0037579 | Soft Tissue Neoplasms | 1 | CTD_human |
Tgene | BCL2 | C0039101 | synovial sarcoma | 1 | CTD_human |
Tgene | BCL2 | C0079744 | Diffuse Large B-Cell Lymphoma | 1 | CTD_human |
Tgene | BCL2 | C0162820 | Dermatitis, Allergic Contact | 1 | CTD_human |
Tgene | BCL2 | C0206637 | Chondrosarcoma, Mesenchymal | 1 | CTD_human |
Tgene | BCL2 | C0206681 | Adenocarcinoma, Clear Cell | 1 | CTD_human |
Tgene | BCL2 | C0242350 | Erectile dysfunction | 1 | CTD_human |
Tgene | BCL2 | C0276535 | AIDS with Kaposi's sarcoma | 1 | CTD_human |
Tgene | BCL2 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
Tgene | BCL2 | C2937358 | Cerebral Hemorrhage | 1 | CTD_human |
Tgene | BCL2 | C2985290 | Fetal Alcohol Spectrum Disorders | 1 | PSYGENET |