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Fusion gene ID: 6965 |
FusionGeneSummary for CHD2_ACSBG1 |
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Fusion gene information | Fusion gene name: CHD2_ACSBG1 | Fusion gene ID: 6965 | Hgene | Tgene | Gene symbol | CHD2 | ACSBG1 | Gene ID | 1826 | 23205 |
Gene name | DS cell adhesion molecule | acyl-CoA synthetase bubblegum family member 1 | |
Synonyms | CHD2|CHD2-42|CHD2-52 | BG|BG1|BGM|GR-LACS|LPD | |
Cytomap | 21q22.2 | 15q25.1 | |
Type of gene | protein-coding | protein-coding | |
Description | Down syndrome cell adhesion molecule | long-chain-fatty-acid--CoA ligase ACSBG1bubblegumlipidosinvery long-chain acyl-CoA synthetase | |
Modification date | 20180519 | 20180519 | |
UniProtAcc | O14647 | Q96GR2 | |
Ensembl transtripts involved in fusion gene | ENST00000394196, ENST00000557381, ENST00000420239, ENST00000536619, ENST00000554122, | ENST00000258873, ENST00000541759, ENST00000560817, ENST00000558828, | |
Fusion gene scores | * DoF score | 11 X 9 X 5=495 | 3 X 3 X 3=27 |
# samples | 12 | 3 | |
** MAII score | log2(12/495*10)=-2.04439411935845 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
Context | PubMed: CHD2 [Title/Abstract] AND ACSBG1 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CHD2 | GO:0042327 | positive regulation of phosphorylation | 19196994 |
Hgene | CHD2 | GO:0048842 | positive regulation of axon extension involved in axon guidance | 18585357 |
Tgene | ACSBG1 | GO:0000038 | very long-chain fatty acid metabolic process | 10954726 |
Tgene | ACSBG1 | GO:0001676 | long-chain fatty acid metabolic process | 10954726 |
![]() (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 | SKCM | TCGA-ER-A197-06A | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000394196 | ENST00000258873 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
Frame-shift | ENST00000394196 | ENST00000541759 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
Frame-shift | ENST00000394196 | ENST00000560817 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
5CDS-intron | ENST00000394196 | ENST00000558828 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
Frame-shift | ENST00000557381 | ENST00000258873 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
Frame-shift | ENST00000557381 | ENST00000541759 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
Frame-shift | ENST00000557381 | ENST00000560817 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
5CDS-intron | ENST00000557381 | ENST00000558828 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
Frame-shift | ENST00000420239 | ENST00000258873 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
Frame-shift | ENST00000420239 | ENST00000541759 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
Frame-shift | ENST00000420239 | ENST00000560817 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
5CDS-intron | ENST00000420239 | ENST00000558828 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
intron-3CDS | ENST00000536619 | ENST00000258873 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
intron-3CDS | ENST00000536619 | ENST00000541759 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
intron-3CDS | ENST00000536619 | ENST00000560817 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
intron-intron | ENST00000536619 | ENST00000558828 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
3UTR-3CDS | ENST00000554122 | ENST00000258873 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
3UTR-3CDS | ENST00000554122 | ENST00000541759 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
3UTR-3CDS | ENST00000554122 | ENST00000560817 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
3UTR-intron | ENST00000554122 | ENST00000558828 | CHD2 | chr15 | 93444529 | + | ACSBG1 | chr15 | 78466181 | - |
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FusionProtFeatures for CHD2_ACSBG1 |
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Hgene | Tgene |
CHD2 | ACSBG1 |
DNA-binding helicase that specifically binds to thepromoter of target genes, leading to chromatin remodeling,possibly by promoting deposition of histone H3.3. Involved inmyogenesis via interaction with MYOD1: binds to myogenic generegulatory sequences and mediates incorporation of histone H3.3prior to the onset of myogenic gene expression, promoting theirexpression (By similarity). {ECO:0000250}. | Mediates activation of long-chain fatty acids for bothsynthesis of cellular lipids, and degradation via beta-oxidation.Able to activate long-chain fatty acids. Also able to activatevery long-chain fatty acids; however, the relevance of suchactivity is unclear in vivo. Can activate diverse saturated,monosaturated and polyunsaturated fatty acids.{ECO:0000269|PubMed:10954726, ECO:0000269|PubMed:12975357}. |
![]() * 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 CHD2_ACSBG1 |
![]() (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 CHD2_ACSBG1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
CHD2 | SIRT7, SRPK2, MID2, THAP1, TEKT1, TRIM41, BEND7, EED, CTR9, LEO1, PAF1, TAF9, UHRF2 | ACSBG1 | GSK3B, APP |
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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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RelatedDrugs for CHD2_ACSBG1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for CHD2_ACSBG1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CHD2 | C0014544 | Epilepsy | 1 | CTD_human |
Hgene | CHD2 | C3809278 | EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET | 1 | UNIPROT |