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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:ABHD17A-NDUFA7 (FusionGDB2 ID:HG81926TG4701) |
Fusion Gene Summary for ABHD17A-NDUFA7 |
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Fusion gene information | Fusion gene name: ABHD17A-NDUFA7 | Fusion gene ID: hg81926tg4701 | Hgene | Tgene | Gene symbol | ABHD17A | NDUFA7 | Gene ID | 81926 | 4701 |
Gene name | abhydrolase domain containing 17A, depalmitoylase | NADH:ubiquinone oxidoreductase subunit A7 | |
Synonyms | C19orf27|FAM108A1 | B14.5a|CI-B14.5a | |
Cytomap | ('ABHD17A')('NDUFA7') 19p13.3 | 19p13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | alpha/beta hydrolase domain-containing protein 17Aabhydrolase domain containing 17Aabhydrolase domain-containing protein 17Aabhydrolase domain-containing protein FAM108A1family with sequence similarity 108, member A1protein ABHD17A | NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 7NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDaNADH-ubiquinone oxidoreductase subunit B14.5acomplex I B14.5a subunit | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | O95182 | |
Ensembl transtripts involved in fusion gene | ENST00000250974, ENST00000292577, ENST00000590661, | ||
Fusion gene scores | * DoF score | 6 X 4 X 6=144 | 5 X 4 X 4=80 |
# samples | 6 | 5 | |
** MAII score | log2(6/144*10)=-1.26303440583379 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 | PubMed: ABHD17A [Title/Abstract] AND NDUFA7 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ABHD17A(1879920)-NDUFA7(8381529), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | ABHD17A-NDUFA7 seems lost the major protein functional domain in Hgene partner, which is a essential gene 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 |
![]() * 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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![]() * 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 | SARC | TCGA-DX-A1KY-01A | ABHD17A | chr19 | 1879920 | - | NDUFA7 | chr19 | 8381529 | - |
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Fusion Gene ORF analysis for ABHD17A-NDUFA7 |
![]() * 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 | ENST00000250974 | ENST00000301457 | ABHD17A | chr19 | 1879920 | - | NDUFA7 | chr19 | 8381529 | - |
Frame-shift | ENST00000250974 | ENST00000598884 | ABHD17A | chr19 | 1879920 | - | NDUFA7 | chr19 | 8381529 | - |
Frame-shift | ENST00000292577 | ENST00000301457 | ABHD17A | chr19 | 1879920 | - | NDUFA7 | chr19 | 8381529 | - |
Frame-shift | ENST00000292577 | ENST00000598884 | ABHD17A | chr19 | 1879920 | - | NDUFA7 | chr19 | 8381529 | - |
In-frame | ENST00000590661 | ENST00000301457 | ABHD17A | chr19 | 1879920 | - | NDUFA7 | chr19 | 8381529 | - |
In-frame | ENST00000590661 | ENST00000598884 | ABHD17A | chr19 | 1879920 | - | NDUFA7 | chr19 | 8381529 | - |
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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) |
ENST00000590661 | ABHD17A | chr19 | 1879920 | - | ENST00000598884 | NDUFA7 | chr19 | 8381529 | - | 950 | 492 | 19 | 732 | 237 |
ENST00000590661 | ABHD17A | chr19 | 1879920 | - | ENST00000301457 | NDUFA7 | chr19 | 8381529 | - | 954 | 492 | 19 | 732 | 237 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000590661 | ENST00000598884 | ABHD17A | chr19 | 1879920 | - | NDUFA7 | chr19 | 8381529 | - | 0.22729944 | 0.77270055 |
ENST00000590661 | ENST00000301457 | ABHD17A | chr19 | 1879920 | - | NDUFA7 | chr19 | 8381529 | - | 0.18103483 | 0.8189652 |
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Fusion Genomic Features for ABHD17A-NDUFA7 |
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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 ABHD17A-NDUFA7 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:1879920/chr19:8381529) - 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 |
. | NDUFA7 |
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}. | FUNCTION: Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. {ECO:0000269|PubMed:27626371}. |
![]() * 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 ABHD17A-NDUFA7 |
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>402_402_1_ABHD17A-NDUFA7_ABHD17A_chr19_1879920_ENST00000590661_NDUFA7_chr19_8381529_ENST00000301457_length(transcript)=954nt_BP=492nt GGCCTGGGCGGCGCCCGCCATGAATGGGCTGTCGCTGAGTGAGCTCTGCTGCCTCTTCTGCTGCCCGCCCTGCCCCGGCCGCATCGCTGC CAAGCTCGCCTTCCTGCCGCCGGAGGCCACCTACTCCCTGGTGCCTGAGCCCGAGCCGGGGCCTGGTGGGGCCGGGGCCGCCCCCTTGGG GACCCTGAGAGCCTCCTCGGGCGCACCCGGGCGCTGGAAGCTGCACCTGACGGAGCGTGCCGACTTCCAGTACAGCCAGCGCGAGCTGGA CACCATCGAGGTCTTCCCCACCAAGAGCGCCCGCGGCAACCGCGTCTCCTGCATGTATGTTCGCTGCGTGCCTGGTGCCAGCTTCTACAT TGGCCTGGGCTCCCGCCTCCACTGCAACATCTTCTCCTACGACTACTCCGGCTACGGTGCCAGCTCGGGCAGGCCTTCCGAGAGGAACCT CTATGCCGACATCGACGCCGCCTGGCAGGCCCTGCGCACCAGAACTCAGCCTCCTCCCAAGCTCCCTGTGGGTCCTAGCCACAAGCTCTC CAACAATTACTATTGCACTCGCGATGGCCGCCGGGAATCTGTGCCCCCTTCCATCATCATGTCGTCGCAGAAGGCGCTGGTGTCAGGCAA GCCAGCAGAGAGCTCTGCTGTAGCTGCCACTGAGAAGAAGGCGGTGACTCCAGCTCCTCCCATAAAGAGGTGGGAGCTGTCCTCGGACCA GCCTTACCTGTGACACTGCACCCTCACGGCCACCCGACTACTTTGCCTCCTTGGATTTCCTCCAGGGAGAATGTGACCTAATTTATGACA AATACGTAGAGCTCAGGTATCACTTCTAGTTTTACTTTAAAAAATAAAAAAATAGAGACAGAGTCTCACCATGTTTCCCAGGCTGATCTT >402_402_1_ABHD17A-NDUFA7_ABHD17A_chr19_1879920_ENST00000590661_NDUFA7_chr19_8381529_ENST00000301457_length(amino acids)=237AA_BP=157 MNGLSLSELCCLFCCPPCPGRIAAKLAFLPPEATYSLVPEPEPGPGGAGAAPLGTLRASSGAPGRWKLHLTERADFQYSQRELDTIEVFP TKSARGNRVSCMYVRCVPGASFYIGLGSRLHCNIFSYDYSGYGASSGRPSERNLYADIDAAWQALRTRTQPPPKLPVGPSHKLSNNYYCT -------------------------------------------------------------- >402_402_2_ABHD17A-NDUFA7_ABHD17A_chr19_1879920_ENST00000590661_NDUFA7_chr19_8381529_ENST00000598884_length(transcript)=950nt_BP=492nt GGCCTGGGCGGCGCCCGCCATGAATGGGCTGTCGCTGAGTGAGCTCTGCTGCCTCTTCTGCTGCCCGCCCTGCCCCGGCCGCATCGCTGC CAAGCTCGCCTTCCTGCCGCCGGAGGCCACCTACTCCCTGGTGCCTGAGCCCGAGCCGGGGCCTGGTGGGGCCGGGGCCGCCCCCTTGGG GACCCTGAGAGCCTCCTCGGGCGCACCCGGGCGCTGGAAGCTGCACCTGACGGAGCGTGCCGACTTCCAGTACAGCCAGCGCGAGCTGGA CACCATCGAGGTCTTCCCCACCAAGAGCGCCCGCGGCAACCGCGTCTCCTGCATGTATGTTCGCTGCGTGCCTGGTGCCAGCTTCTACAT TGGCCTGGGCTCCCGCCTCCACTGCAACATCTTCTCCTACGACTACTCCGGCTACGGTGCCAGCTCGGGCAGGCCTTCCGAGAGGAACCT CTATGCCGACATCGACGCCGCCTGGCAGGCCCTGCGCACCAGAACTCAGCCTCCTCCCAAGCTCCCTGTGGGTCCTAGCCACAAGCTCTC CAACAATTACTATTGCACTCGCGATGGCCGCCGGGAATCTGTGCCCCCTTCCATCATCATGTCGTCGCAGAAGGCGCTGGTGTCAGGCAA GCCAGCAGAGAGCTCTGCTGTAGCTGCCACTGAGAAGAAGGCGGTGACTCCAGCTCCTCCCATAAAGAGGTGGGAGCTGTCCTCGGACCA GCCTTACCTGTGACACTGCACCCTCACGGCCACCCGACTACTTTGCCTCCTTGGATTTCCTCCAGGGAGAATGTGACCTAATTTATGACA AATACGTAGAGCTCAGCCGCGGGCGCCGCAGAACTCAGGGGCTTGGGCCCCGCCCCAACCCCGCGCGTGCGCGTGCGCAGGGATAAGAGA >402_402_2_ABHD17A-NDUFA7_ABHD17A_chr19_1879920_ENST00000590661_NDUFA7_chr19_8381529_ENST00000598884_length(amino acids)=237AA_BP=157 MNGLSLSELCCLFCCPPCPGRIAAKLAFLPPEATYSLVPEPEPGPGGAGAAPLGTLRASSGAPGRWKLHLTERADFQYSQRELDTIEVFP TKSARGNRVSCMYVRCVPGASFYIGLGSRLHCNIFSYDYSGYGASSGRPSERNLYADIDAAWQALRTRTQPPPKLPVGPSHKLSNNYYCT -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for ABHD17A-NDUFA7 |
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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 ABHD17A-NDUFA7 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | NDUFA7 | O95182 | DB00157 | NADH | Small molecule | Approved|Nutraceutical |
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Related Diseases for ABHD17A-NDUFA7 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |