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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:NOTCH2-ACSM2B (FusionGDB2 ID:HG4853TG348158) |
Fusion Gene Summary for NOTCH2-ACSM2B |
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Fusion gene information | Fusion gene name: NOTCH2-ACSM2B | Fusion gene ID: hg4853tg348158 | Hgene | Tgene | Gene symbol | NOTCH2 | ACSM2B | Gene ID | 4853 | 348158 |
Gene name | notch receptor 2 | acyl-CoA synthetase medium chain family member 2B | |
Synonyms | AGS2|HJCYS|hN2 | ACSM2|HXMA|HYST1046 | |
Cytomap | ('NOTCH2')('ACSM2B') 1p12 | 16p12.3 | |
Type of gene | protein-coding | protein-coding | |
Description | neurogenic locus notch homolog protein 2Notch homolog 2notch 2 | acyl-coenzyme A synthetase ACSM2B, mitochondrialacyl-CoA synthetase medium-chain family member 2benzoate--CoA ligasebutyrate--CoA ligase 2Bbutyryl-coenzyme A synthetase 2Bmiddle-chain acyl-CoA synthetase 2Bxenobiotic/medium-chain fatty acid-CoA liga | |
Modification date | 20200329 | 20200313 | |
UniProtAcc | Q04721 | . | |
Ensembl transtripts involved in fusion gene | ENST00000256646, ENST00000493703, ENST00000602566, | ENST00000256646, ENST00000493703, ENST00000602566, | |
Fusion gene scores | * DoF score | 26 X 22 X 14=8008 | 3 X 2 X 2=12 |
# samples | 35 | 3 | |
** MAII score | log2(35/8008*10)=-4.51601514700366 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: NOTCH2 [Title/Abstract] AND ACSM2B [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | NOTCH2(120465258)-ACSM2B(20576175), # samples:1 NOTCH2(120465259)-ACSM2B(20576175), # 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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | NOTCH2 | GO:0007050 | cell cycle arrest | 11306509 |
Hgene | NOTCH2 | GO:0007219 | Notch signaling pathway | 11306509|25985737 |
Hgene | NOTCH2 | GO:0010629 | negative regulation of gene expression | 11306509 |
Hgene | NOTCH2 | GO:0010838 | positive regulation of keratinocyte proliferation | 18469519 |
Hgene | NOTCH2 | GO:0045967 | negative regulation of growth rate | 11306509 |
Hgene | NOTCH2 | GO:0046579 | positive regulation of Ras protein signal transduction | 11306509 |
Hgene | NOTCH2 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 11306509 |
Hgene | NOTCH2 | GO:2000249 | regulation of actin cytoskeleton reorganization | 18469519 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | KIRP | TCGA-BQ-7056 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
ChimerDB4 | KIRP | TCGA-BQ-7056 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
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Fusion Gene ORF analysis for NOTCH2-ACSM2B |
![]() * 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 |
5CDS-5UTR | ENST00000256646 | ENST00000329697 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
5CDS-5UTR | ENST00000256646 | ENST00000329697 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
5CDS-5UTR | ENST00000256646 | ENST00000414188 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
5CDS-5UTR | ENST00000256646 | ENST00000414188 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
5CDS-5UTR | ENST00000256646 | ENST00000565232 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
5CDS-5UTR | ENST00000256646 | ENST00000565232 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
5CDS-5UTR | ENST00000256646 | ENST00000567001 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
5CDS-5UTR | ENST00000256646 | ENST00000567001 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
5CDS-intron | ENST00000256646 | ENST00000565322 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
5CDS-intron | ENST00000256646 | ENST00000565322 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
5CDS-intron | ENST00000256646 | ENST00000567288 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
5CDS-intron | ENST00000256646 | ENST00000567288 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
intron-5UTR | ENST00000493703 | ENST00000329697 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
intron-5UTR | ENST00000493703 | ENST00000329697 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
intron-5UTR | ENST00000493703 | ENST00000414188 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
intron-5UTR | ENST00000493703 | ENST00000414188 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
intron-5UTR | ENST00000493703 | ENST00000565232 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
intron-5UTR | ENST00000493703 | ENST00000565232 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
intron-5UTR | ENST00000493703 | ENST00000567001 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
intron-5UTR | ENST00000493703 | ENST00000567001 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
intron-5UTR | ENST00000602566 | ENST00000329697 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
intron-5UTR | ENST00000602566 | ENST00000329697 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
intron-5UTR | ENST00000602566 | ENST00000414188 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
intron-5UTR | ENST00000602566 | ENST00000414188 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
intron-5UTR | ENST00000602566 | ENST00000565232 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
intron-5UTR | ENST00000602566 | ENST00000565232 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
intron-5UTR | ENST00000602566 | ENST00000567001 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
intron-5UTR | ENST00000602566 | ENST00000567001 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
intron-intron | ENST00000493703 | ENST00000565322 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
intron-intron | ENST00000493703 | ENST00000565322 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
intron-intron | ENST00000493703 | ENST00000567288 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
intron-intron | ENST00000493703 | ENST00000567288 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
intron-intron | ENST00000602566 | ENST00000565322 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
intron-intron | ENST00000602566 | ENST00000565322 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
intron-intron | ENST00000602566 | ENST00000567288 | NOTCH2 | chr1 | 120465258 | - | ACSM2B | chr16 | 20576175 | - |
intron-intron | ENST00000602566 | ENST00000567288 | NOTCH2 | chr1 | 120465259 | - | ACSM2B | chr16 | 20576175 | - |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for NOTCH2-ACSM2B |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for NOTCH2-ACSM2B |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:120465258/:20576175) - 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. |
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Hgene | Tgene |
NOTCH2 | . |
FUNCTION: Functions as a receptor for membrane-bound ligands Jagged-1 (JAG1), Jagged-2 (JAG2) and Delta-1 (DLL1) to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus (PubMed:21378985, PubMed:21378989). Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Involved in bone remodeling and homeostasis. In collaboration with RELA/p65 enhances NFATc1 promoter activity and positively regulates RANKL-induced osteoclast differentiation (PubMed:29149593). Positively regulates self-renewal of liver cancer cells (PubMed:25985737). {ECO:0000250|UniProtKB:O35516, ECO:0000269|PubMed:21378985, ECO:0000269|PubMed:21378989, ECO:0000269|PubMed:25985737, ECO:0000269|PubMed:29149593}. | 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}. |
![]() * 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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Fusion Gene Sequence for NOTCH2-ACSM2B |
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Fusion Gene PPI Analysis for NOTCH2-ACSM2B |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for NOTCH2-ACSM2B |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for NOTCH2-ACSM2B |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | NOTCH2 | C1857761 | Alagille Syndrome 2 | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | NOTCH2 | C0917715 | Hajdu-Cheney Syndrome | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | NOTCH2 | C0004114 | Astrocytoma | 1 | CTD_human |
Hgene | NOTCH2 | C0006142 | Malignant neoplasm of breast | 1 | CGI;CTD_human |
Hgene | NOTCH2 | C0007114 | Malignant neoplasm of skin | 1 | CTD_human |
Hgene | NOTCH2 | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
Hgene | NOTCH2 | C0007873 | Uterine Cervical Neoplasm | 1 | CTD_human |
Hgene | NOTCH2 | C0011860 | Diabetes Mellitus, Non-Insulin-Dependent | 1 | CTD_human |
Hgene | NOTCH2 | C0017636 | Glioblastoma | 1 | CTD_human |
Hgene | NOTCH2 | C0024121 | Lung Neoplasms | 1 | CTD_human |
Hgene | NOTCH2 | C0024623 | Malignant neoplasm of stomach | 1 | CTD_human |
Hgene | NOTCH2 | C0027626 | Neoplasm Invasiveness | 1 | CTD_human |
Hgene | NOTCH2 | C0037286 | Skin Neoplasms | 1 | CTD_human |
Hgene | NOTCH2 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
Hgene | NOTCH2 | C0205768 | Subependymal Giant Cell Astrocytoma | 1 | CTD_human |
Hgene | NOTCH2 | C0206663 | Neuroectodermal Tumor, Primitive | 1 | CTD_human |
Hgene | NOTCH2 | C0242379 | Malignant neoplasm of lung | 1 | CTD_human |
Hgene | NOTCH2 | C0279626 | Squamous cell carcinoma of esophagus | 1 | CTD_human |
Hgene | NOTCH2 | C0280783 | Juvenile Pilocytic Astrocytoma | 1 | CTD_human |
Hgene | NOTCH2 | C0280785 | Diffuse Astrocytoma | 1 | CTD_human |
Hgene | NOTCH2 | C0334579 | Anaplastic astrocytoma | 1 | CTD_human |
Hgene | NOTCH2 | C0334580 | Protoplasmic astrocytoma | 1 | CTD_human |
Hgene | NOTCH2 | C0334581 | Gemistocytic astrocytoma | 1 | CTD_human |
Hgene | NOTCH2 | C0334582 | Fibrillary Astrocytoma | 1 | CTD_human |
Hgene | NOTCH2 | C0334583 | Pilocytic Astrocytoma | 1 | CTD_human |
Hgene | NOTCH2 | C0334584 | Spongioblastoma | 1 | CTD_human |
Hgene | NOTCH2 | C0334588 | Giant Cell Glioblastoma | 1 | CTD_human |
Hgene | NOTCH2 | C0334596 | Medulloepithelioma | 1 | CTD_human |
Hgene | NOTCH2 | C0338070 | Childhood Cerebral Astrocytoma | 1 | CTD_human |
Hgene | NOTCH2 | C0547065 | Mixed oligoastrocytoma | 1 | CTD_human |
Hgene | NOTCH2 | C0678222 | Breast Carcinoma | 1 | CGI;CTD_human |
Hgene | NOTCH2 | C0700367 | Ependymoblastoma | 1 | CTD_human |
Hgene | NOTCH2 | C0750935 | Cerebral Astrocytoma | 1 | CTD_human |
Hgene | NOTCH2 | C0750936 | Intracranial Astrocytoma | 1 | CTD_human |
Hgene | NOTCH2 | C0751675 | Cerebral Primitive Neuroectodermal Tumor | 1 | CTD_human |
Hgene | NOTCH2 | C1257931 | Mammary Neoplasms, Human | 1 | CTD_human |
Hgene | NOTCH2 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
Hgene | NOTCH2 | C1621958 | Glioblastoma Multiforme | 1 | CTD_human |
Hgene | NOTCH2 | C1704230 | Grade I Astrocytoma | 1 | CTD_human |
Hgene | NOTCH2 | C1708349 | Hereditary Diffuse Gastric Cancer | 1 | CTD_human |
Hgene | NOTCH2 | C2930967 | Gastro-enteropancreatic neuroendocrine tumor | 1 | CTD_human |
Hgene | NOTCH2 | C2930971 | Acroosteolysis dominant type | 1 | ORPHANET |
Hgene | NOTCH2 | C4048328 | cervical cancer | 1 | CTD_human |
Hgene | NOTCH2 | C4704874 | Mammary Carcinoma, Human | 1 | CTD_human |