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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:ABCA1-NDUFB2 (FusionGDB2 ID:HG19TG4708) |
Fusion Gene Summary for ABCA1-NDUFB2 |
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Fusion gene information | Fusion gene name: ABCA1-NDUFB2 | Fusion gene ID: hg19tg4708 | Hgene | Tgene | Gene symbol | ABCA1 | NDUFB2 | Gene ID | 19 | 4708 |
Gene name | ATP binding cassette subfamily A member 1 | NADH:ubiquinone oxidoreductase subunit B2 | |
Synonyms | ABC-1|ABC1|CERP|HDLCQTL13|HDLDT1|HPALP1|TGD | AGGG|CI-AGGG | |
Cytomap | ('ABCA1')('NDUFB2') 9q31.1 | 7q34 | |
Type of gene | protein-coding | protein-coding | |
Description | phospholipid-transporting ATPase ABCA1ATP-binding cassette sub-family A member 1ATP-binding cassette transporter A1ATP-binding cassette, sub-family A (ABC1), member 1cholesterol efflux regulatory proteinmembrane-bound | NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 2, mitochondrialNADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDaNADH-ubiquinone oxidoreductase AGGG subunitcomplex I AGGG subunitcomplex I-AGGG | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | O95178 | |
Ensembl transtripts involved in fusion gene | ENST00000374733, ENST00000374736, ENST00000423487, ENST00000494467, | ||
Fusion gene scores | * DoF score | 13 X 9 X 9=1053 | 15 X 5 X 9=675 |
# samples | 13 | 16 | |
** MAII score | log2(13/1053*10)=-3.01792190799726 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/675*10)=-2.07681559705083 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ABCA1 [Title/Abstract] AND NDUFB2 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ABCA1(107690215)-NDUFB2(140402665), # samples:2 | ||
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 | ABCA1 | GO:0007040 | lysosome organization | 15163665 |
Hgene | ABCA1 | GO:0008203 | cholesterol metabolic process | 14747463 |
Hgene | ABCA1 | GO:0016197 | endosomal transport | 14747463 |
Hgene | ABCA1 | GO:0033344 | cholesterol efflux | 10431236|11162594|16702602|23931754 |
Hgene | ABCA1 | GO:0033700 | phospholipid efflux | 10431236|11162594 |
Hgene | ABCA1 | GO:0042632 | cholesterol homeostasis | 10431236 |
Hgene | ABCA1 | GO:0045332 | phospholipid translocation | 24097981 |
![]() * 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 | HNSC | TCGA-CQ-6223 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
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Fusion Gene ORF analysis for ABCA1-NDUFB2 |
![]() * 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 |
5UTR-3UTR | ENST00000374733 | ENST00000204307 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-3UTR | ENST00000374733 | ENST00000464564 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-3UTR | ENST00000374736 | ENST00000204307 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-3UTR | ENST00000374736 | ENST00000464564 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-3UTR | ENST00000423487 | ENST00000204307 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-3UTR | ENST00000423487 | ENST00000464564 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000374733 | ENST00000247866 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000374733 | ENST00000460088 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000374733 | ENST00000471136 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000374733 | ENST00000472695 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000374733 | ENST00000475276 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000374733 | ENST00000476279 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000374733 | ENST00000476470 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000374733 | ENST00000482954 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000374736 | ENST00000247866 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000374736 | ENST00000460088 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000374736 | ENST00000471136 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000374736 | ENST00000472695 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000374736 | ENST00000475276 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000374736 | ENST00000476279 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000374736 | ENST00000476470 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000374736 | ENST00000482954 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000423487 | ENST00000247866 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000423487 | ENST00000460088 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000423487 | ENST00000471136 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000423487 | ENST00000472695 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000423487 | ENST00000475276 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000423487 | ENST00000476279 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000423487 | ENST00000476470 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-5UTR | ENST00000423487 | ENST00000482954 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-intron | ENST00000374733 | ENST00000461457 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-intron | ENST00000374733 | ENST00000465506 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-intron | ENST00000374736 | ENST00000461457 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-intron | ENST00000374736 | ENST00000465506 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-intron | ENST00000423487 | ENST00000461457 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
5UTR-intron | ENST00000423487 | ENST00000465506 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
intron-3UTR | ENST00000494467 | ENST00000204307 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
intron-3UTR | ENST00000494467 | ENST00000464564 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
intron-5UTR | ENST00000494467 | ENST00000247866 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
intron-5UTR | ENST00000494467 | ENST00000460088 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
intron-5UTR | ENST00000494467 | ENST00000471136 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
intron-5UTR | ENST00000494467 | ENST00000472695 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
intron-5UTR | ENST00000494467 | ENST00000475276 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
intron-5UTR | ENST00000494467 | ENST00000476279 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
intron-5UTR | ENST00000494467 | ENST00000476470 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
intron-5UTR | ENST00000494467 | ENST00000482954 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
intron-intron | ENST00000494467 | ENST00000461457 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
intron-intron | ENST00000494467 | ENST00000465506 | ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + |
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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 ABCA1-NDUFB2 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + | 8.16E-08 | 0.9999999 |
ABCA1 | chr9 | 107690215 | - | NDUFB2 | chr7 | 140402665 | + | 8.16E-08 | 0.9999999 |
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Fusion Protein Features for ABCA1-NDUFB2 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:107690215/:140402665) - 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 |
. | NDUFB2 |
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 ABCA1-NDUFB2 |
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Fusion Gene PPI Analysis for ABCA1-NDUFB2 |
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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 ABCA1-NDUFB2 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | NDUFB2 | O95178 | DB00157 | NADH | Small molecule | Approved|Nutraceutical |
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Related Diseases for ABCA1-NDUFB2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ABCA1 | C0039292 | Tangier Disease | 23 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | ABCA1 | C1704429 | Hypoalphalipoproteinemia, Familial | 9 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
Hgene | ABCA1 | C0751544 | Tangier Disease Neuropathy | 3 | CTD_human |
Hgene | ABCA1 | C0342898 | Apolipoprotein A-I deficiency | 2 | ORPHANET |
Hgene | ABCA1 | C2931838 | Familial HDL deficiency | 2 | CTD_human |
Hgene | ABCA1 | C3711531 | Hdl Deficiency, Type 2 | 2 | CTD_human |
Hgene | ABCA1 | C0004153 | Atherosclerosis | 1 | CTD_human |
Hgene | ABCA1 | C0009402 | Colorectal Carcinoma | 1 | CTD_human;UNIPROT |
Hgene | ABCA1 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Hgene | ABCA1 | C0020443 | Hypercholesterolemia | 1 | CTD_human;GENOMICS_ENGLAND |
Hgene | ABCA1 | C0020445 | Hypercholesterolemia, Familial | 1 | CTD_human |
Hgene | ABCA1 | C0022661 | Kidney Failure, Chronic | 1 | CTD_human |
Hgene | ABCA1 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | ABCA1 | C0745103 | Hyperlipoproteinemia Type IIa | 1 | CTD_human;GENOMICS_ENGLAND |
Hgene | ABCA1 | C1563937 | Atherogenesis | 1 | CTD_human |
Hgene | ABCA1 | C1704417 | Hyperlipoproteinemia Type IIb | 1 | CTD_human |
Hgene | ABCA1 | C4721453 | Peripheral Nervous System Diseases | 1 | CTD_human |