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Fusion Protein:CHD6-ABHD12 |
Fusion Protein Summary |
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Fusion partner gene information | Fusion gene name: CHD6-ABHD12 | FusionPDB ID: 16337 | FusionGDB2.0 ID: 16337 | Hgene | Tgene | Gene symbol | CHD6 | ABHD12 | Gene ID | 84181 | 26090 |
Gene name | chromodomain helicase DNA binding protein 6 | abhydrolase domain containing 12, lysophospholipase | |
Synonyms | CHD-6|CHD5|RIGB | ABHD12A|BEM46L2|C20orf22|PHARC|dJ965G21.2|hABHD12 | |
Cytomap | 20q12 | 20p11.21 | |
Type of gene | protein-coding | protein-coding | |
Description | chromodomain-helicase-DNA-binding protein 6ATP-dependent helicase CHD6helicase C-terminal domain- and SNF2 N-terminal domain-containing proteinradiation-induced gene B protein | lysophosphatidylserine lipase ABHD122-arachidonoylglycerol hydrolase2-arachidonoylglycerol hydrolase ABHD12abhydrolase domain containing 12abhydrolase domain-containing protein 12monoacylglycerol lipase ABHD12oxidized phosphatidylserine lipase ABHD1 | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | Q8TD26 | Q7Z5M8 | |
Ensembl transtripts involved in fusion gene | ENST ids | ENST00000309279, ENST00000373222, ENST00000373233, ENST00000480022, | ENST00000481556, ENST00000339157, ENST00000376542, |
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0) | * DoF score | 30 X 18 X 11=5940 | 5 X 4 X 4=80 |
# samples | 35 | 5 | |
** MAII score | log2(35/5940*10)=-4.0850361038558 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/80*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context (manual curation of fusion genes in FusionPDB) | PubMed: CHD6 [Title/Abstract] AND ABHD12 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0) | CHD6(40141485)-ABHD12(25304066), # samples:3 | ||
Anticipated loss of major functional domain due to fusion event. | CHD6-ABHD12 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CHD6-ABHD12 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CHD6-ABHD12 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. CHD6-ABHD12 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. CHD6-ABHD12 seems lost the major protein functional domain in Hgene partner, which is a epigenetic factor due to the frame-shifted ORF. CHD6-ABHD12 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. CHD6-ABHD12 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. |
* 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 |
Tgene | ABHD12 | GO:0006660 | phosphatidylserine catabolic process | 30643283 |
Tgene | ABHD12 | GO:0009395 | phospholipid catabolic process | 30237167 |
Tgene | ABHD12 | GO:0046464 | acylglycerol catabolic process | 22969151 |
Tgene | ABHD12 | GO:0046475 | glycerophospholipid catabolic process | 25290914 |
Tgene | ABHD12 | GO:0052651 | monoacylglycerol catabolic process | 25290914|30237167 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Fusion Gene Sample Information |
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![]() * 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 | LUAD | TCGA-86-7954-01A | CHD6 | chr20 | 40141485 | - | ABHD12 | chr20 | 25304066 | - |
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Fusion ORF Analysis |
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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) |
ENST00000373222 | CHD6 | chr20 | 40141485 | - | ENST00000376542 | ABHD12 | chr20 | 25304066 | - | 2125 | 996 | 39 | 998 | 319 |
ENST00000373222 | CHD6 | chr20 | 40141485 | - | ENST00000339157 | ABHD12 | chr20 | 25304066 | - | 2524 | 996 | 39 | 998 | 319 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000373222 | ENST00000376542 | CHD6 | chr20 | 40141485 | - | ABHD12 | chr20 | 25304066 | - | 0.003334355 | 0.99666566 |
ENST00000373222 | ENST00000339157 | CHD6 | chr20 | 40141485 | - | ABHD12 | chr20 | 25304066 | - | 0.003818729 | 0.99618125 |
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Fusion Amino Acid Sequences |
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>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP >16337_16337_1_CHD6-ABHD12_CHD6_chr20_40141485_ENST00000373222_ABHD12_chr20_25304066_ENST00000339157_length(amino acids)=319AA_BP= MCQSHMIGFCTSSVNEETETQGDQISCPNPTTLVFRTQISSLPSLQLSNLKVLNHSPMSDASVNFDYKSPSPFDCSTDQEEKIEDVASHC LPQKDLYTAEEEAATLFPRKMTSHNGMEDSGGGGTGVKKKRKKKEPGDQEGAAKGSKDREPKPKRKREPKEPKEPRKAKEPKKAKEHKEP KQKDGAKKARKPREASGTKEAKEKRSCTDSAARTKSRKASKEQGPTPVEKKKKGKRKSETTVESLELDQGLTNPSLRSPEESTESTDSQK -------------------------------------------------------------- >16337_16337_2_CHD6-ABHD12_CHD6_chr20_40141485_ENST00000373222_ABHD12_chr20_25304066_ENST00000376542_length(amino acids)=319AA_BP= MCQSHMIGFCTSSVNEETETQGDQISCPNPTTLVFRTQISSLPSLQLSNLKVLNHSPMSDASVNFDYKSPSPFDCSTDQEEKIEDVASHC LPQKDLYTAEEEAATLFPRKMTSHNGMEDSGGGGTGVKKKRKKKEPGDQEGAAKGSKDREPKPKRKREPKEPKEPRKAKEPKKAKEHKEP KQKDGAKKARKPREASGTKEAKEKRSCTDSAARTKSRKASKEQGPTPVEKKKKGKRKSETTVESLELDQGLTNPSLRSPEESTESTDSQK -------------------------------------------------------------- |
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Fusion Protein Functional Features |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr20:40141485/chr20:25304066) - 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 |
CHD6 | ABHD12 |
FUNCTION: DNA-dependent ATPase that plays a role in chromatin remodeling. Regulates transcription by disrupting nucleosomes in a largely non-sliding manner which strongly increases the accessibility of chromatin (PubMed:28533432). Activates transcription of specific genes in response to oxidative stress through interaction with NFE2L2. {ECO:0000269|PubMed:16314513, ECO:0000269|PubMed:28533432}.; FUNCTION: (Microbial infection) Acts as a transcriptional repressor of different viruses including influenza virus or papillomavirus. During influenza virus infection, the viral polymerase complex localizes CHD6 to inactive chromatin where it gets degraded in a proteasome independent-manner. {ECO:0000269|PubMed:20631145, ECO:0000269|PubMed:21899694, ECO:0000269|PubMed:23408615}. |
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- 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 |
Hgene | CHD6 | chr20:40141485 | chr20:25304066 | ENST00000373222 | - | 5 | 7 | 93_202 | 319.0 | 374.0 | Compositional bias | Note=Lys-rich |
Hgene | CHD6 | chr20:40141485 | chr20:25304066 | ENST00000373233 | - | 5 | 37 | 93_202 | 284.0 | 2716.0 | Compositional bias | Note=Lys-rich |
- 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 |
Hgene | CHD6 | chr20:40141485 | chr20:25304066 | ENST00000373222 | - | 5 | 7 | 1449_1503 | 319.0 | 374.0 | Domain | Note=Myb-like |
Hgene | CHD6 | chr20:40141485 | chr20:25304066 | ENST00000373222 | - | 5 | 7 | 292_343 | 319.0 | 374.0 | Domain | Chromo 1 |
Hgene | CHD6 | chr20:40141485 | chr20:25304066 | ENST00000373222 | - | 5 | 7 | 375_439 | 319.0 | 374.0 | Domain | Chromo 2 |
Hgene | CHD6 | chr20:40141485 | chr20:25304066 | ENST00000373222 | - | 5 | 7 | 473_647 | 319.0 | 374.0 | Domain | Helicase ATP-binding |
Hgene | CHD6 | chr20:40141485 | chr20:25304066 | ENST00000373222 | - | 5 | 7 | 787_956 | 319.0 | 374.0 | Domain | Helicase C-terminal |
Hgene | CHD6 | chr20:40141485 | chr20:25304066 | ENST00000373233 | - | 5 | 37 | 1449_1503 | 284.0 | 2716.0 | Domain | Note=Myb-like |
Hgene | CHD6 | chr20:40141485 | chr20:25304066 | ENST00000373233 | - | 5 | 37 | 292_343 | 284.0 | 2716.0 | Domain | Chromo 1 |
Hgene | CHD6 | chr20:40141485 | chr20:25304066 | ENST00000373233 | - | 5 | 37 | 375_439 | 284.0 | 2716.0 | Domain | Chromo 2 |
Hgene | CHD6 | chr20:40141485 | chr20:25304066 | ENST00000373233 | - | 5 | 37 | 473_647 | 284.0 | 2716.0 | Domain | Helicase ATP-binding |
Hgene | CHD6 | chr20:40141485 | chr20:25304066 | ENST00000373233 | - | 5 | 37 | 787_956 | 284.0 | 2716.0 | Domain | Helicase C-terminal |
Hgene | CHD6 | chr20:40141485 | chr20:25304066 | ENST00000373222 | - | 5 | 7 | 598_601 | 319.0 | 374.0 | Motif | Note=DEAH box |
Hgene | CHD6 | chr20:40141485 | chr20:25304066 | ENST00000373233 | - | 5 | 37 | 598_601 | 284.0 | 2716.0 | Motif | Note=DEAH box |
Hgene | CHD6 | chr20:40141485 | chr20:25304066 | ENST00000373222 | - | 5 | 7 | 486_493 | 319.0 | 374.0 | Nucleotide binding | ATP |
Hgene | CHD6 | chr20:40141485 | chr20:25304066 | ENST00000373233 | - | 5 | 37 | 486_493 | 284.0 | 2716.0 | Nucleotide binding | ATP |
Hgene | CHD6 | chr20:40141485 | chr20:25304066 | ENST00000373222 | - | 5 | 7 | 1_747 | 319.0 | 374.0 | Region | Note=Required for DNA-dependent ATPase activity |
Hgene | CHD6 | chr20:40141485 | chr20:25304066 | ENST00000373233 | - | 5 | 37 | 1_747 | 284.0 | 2716.0 | Region | Note=Required for DNA-dependent ATPase activity |
Tgene | ABHD12 | chr20:40141485 | chr20:25304066 | ENST00000339157 | 1 | 13 | 20_25 | 105.33333333333333 | 399.0 | Compositional bias | Note=Poly-Ser | |
Tgene | ABHD12 | chr20:40141485 | chr20:25304066 | ENST00000339157 | 1 | 13 | 26_29 | 105.33333333333333 | 399.0 | Compositional bias | Note=Poly-Ala | |
Tgene | ABHD12 | chr20:40141485 | chr20:25304066 | ENST00000376542 | 1 | 13 | 20_25 | 105.33333333333333 | 405.0 | Compositional bias | Note=Poly-Ser | |
Tgene | ABHD12 | chr20:40141485 | chr20:25304066 | ENST00000376542 | 1 | 13 | 26_29 | 105.33333333333333 | 405.0 | Compositional bias | Note=Poly-Ala | |
Tgene | ABHD12 | chr20:40141485 | chr20:25304066 | ENST00000339157 | 1 | 13 | 1_74 | 105.33333333333333 | 399.0 | Topological domain | Cytoplasmic | |
Tgene | ABHD12 | chr20:40141485 | chr20:25304066 | ENST00000339157 | 1 | 13 | 96_398 | 105.33333333333333 | 399.0 | Topological domain | Extracellular | |
Tgene | ABHD12 | chr20:40141485 | chr20:25304066 | ENST00000376542 | 1 | 13 | 1_74 | 105.33333333333333 | 405.0 | Topological domain | Cytoplasmic | |
Tgene | ABHD12 | chr20:40141485 | chr20:25304066 | ENST00000376542 | 1 | 13 | 96_398 | 105.33333333333333 | 405.0 | Topological domain | Extracellular | |
Tgene | ABHD12 | chr20:40141485 | chr20:25304066 | ENST00000339157 | 1 | 13 | 75_95 | 105.33333333333333 | 399.0 | Transmembrane | Helical | |
Tgene | ABHD12 | chr20:40141485 | chr20:25304066 | ENST00000376542 | 1 | 13 | 75_95 | 105.33333333333333 | 405.0 | Transmembrane | Helical |
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Fusion Protein-Protein Interaction |
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Gene | PPI interactors |
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Gene | STRING network |
CHD6 | |
ABHD12 |
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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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Related Drugs to CHD6-ABHD12 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Drug | Source | PMID |
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Related Diseases to CHD6-ABHD12 |
![]() (Manual curation of PubMed, 04-30-2022 + MyCancerGenome) |
Hgene | Tgene | Disease | Source | PMID |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |