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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:ABCA7-CIRBP (FusionGDB2 ID:HG10347TG1153) |
Fusion Gene Summary for ABCA7-CIRBP |
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Fusion gene information | Fusion gene name: ABCA7-CIRBP | Fusion gene ID: hg10347tg1153 | Hgene | Tgene | Gene symbol | ABCA7 | CIRBP | Gene ID | 10347 | 1153 |
Gene name | ATP binding cassette subfamily A member 7 | cold inducible RNA binding protein | |
Synonyms | ABCA-SSN|ABCX|AD9 | CIRP | |
Cytomap | ('ABCA7')('CIRBP') 19p13.3 | 19p13.3 | |
Type of gene | protein-coding | protein-coding | |
Description | phospholipid-transporting ATPase ABCA7ATP-binding cassette sub-family A member 7ATP-binding cassette, sub-family A (ABC1), member 7autoantigen SS-Nmacrophage ABC transporter | cold-inducible RNA-binding proteinA18 hnRNPglycine-rich RNA binding proteintesticular tissue protein Li 39 | |
Modification date | 20200320 | 20200327 | |
UniProtAcc | Q8IZY2 | . | |
Ensembl transtripts involved in fusion gene | ENST00000263094, ENST00000433129, ENST00000435683, ENST00000533574, | ||
Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 7 X 7 X 5=245 |
# samples | 5 | 8 | |
** MAII score | log2(5/75*10)=-0.584962500721156 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/245*10)=-1.61470984411521 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ABCA7 [Title/Abstract] AND CIRBP [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ABCA7(1049436)-CIRBP(1264252), # 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 | ABCA7 | GO:0033344 | cholesterol efflux | 14570867 |
Hgene | ABCA7 | GO:0033700 | phospholipid efflux | 14570867 |
Hgene | ABCA7 | GO:0034380 | high-density lipoprotein particle assembly | 14570867 |
Hgene | ABCA7 | GO:0038027 | apolipoprotein A-I-mediated signaling pathway | 14570867 |
Hgene | ABCA7 | GO:0045332 | phospholipid translocation | 24097981 |
Tgene | CIRBP | GO:0009411 | response to UV | 11574538 |
Tgene | CIRBP | GO:0045727 | positive regulation of translation | 11574538 |
Tgene | CIRBP | GO:0048255 | mRNA stabilization | 11574538 |
![]() * 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 | BLCA | TCGA-FD-A3B6-01A | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
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Fusion Gene ORF analysis for ABCA7-CIRBP |
![]() * 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-intron | ENST00000263094 | ENST00000320936 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000263094 | ENST00000413636 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000263094 | ENST00000444172 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000263094 | ENST00000585630 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000263094 | ENST00000586472 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000263094 | ENST00000586773 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000263094 | ENST00000587323 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000263094 | ENST00000587896 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000263094 | ENST00000588030 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000263094 | ENST00000588090 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000263094 | ENST00000588230 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000263094 | ENST00000589235 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000263094 | ENST00000589660 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000263094 | ENST00000589686 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000263094 | ENST00000589710 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000263094 | ENST00000590188 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000263094 | ENST00000591935 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000433129 | ENST00000320936 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000433129 | ENST00000413636 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000433129 | ENST00000444172 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000433129 | ENST00000585630 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000433129 | ENST00000586472 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000433129 | ENST00000586773 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000433129 | ENST00000587323 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000433129 | ENST00000587896 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000433129 | ENST00000588030 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000433129 | ENST00000588090 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000433129 | ENST00000588230 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000433129 | ENST00000589235 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000433129 | ENST00000589660 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000433129 | ENST00000589686 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000433129 | ENST00000589710 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000433129 | ENST00000590188 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000433129 | ENST00000591935 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000435683 | ENST00000320936 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000435683 | ENST00000413636 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000435683 | ENST00000444172 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000435683 | ENST00000585630 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000435683 | ENST00000586472 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000435683 | ENST00000586773 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000435683 | ENST00000587323 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000435683 | ENST00000587896 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000435683 | ENST00000588030 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000435683 | ENST00000588090 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000435683 | ENST00000588230 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000435683 | ENST00000589235 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000435683 | ENST00000589660 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000435683 | ENST00000589686 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000435683 | ENST00000589710 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000435683 | ENST00000590188 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
5CDS-intron | ENST00000435683 | ENST00000591935 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
intron-intron | ENST00000533574 | ENST00000320936 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
intron-intron | ENST00000533574 | ENST00000413636 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
intron-intron | ENST00000533574 | ENST00000444172 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
intron-intron | ENST00000533574 | ENST00000585630 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
intron-intron | ENST00000533574 | ENST00000586472 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
intron-intron | ENST00000533574 | ENST00000586773 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
intron-intron | ENST00000533574 | ENST00000587323 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
intron-intron | ENST00000533574 | ENST00000587896 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
intron-intron | ENST00000533574 | ENST00000588030 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
intron-intron | ENST00000533574 | ENST00000588090 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
intron-intron | ENST00000533574 | ENST00000588230 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
intron-intron | ENST00000533574 | ENST00000589235 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
intron-intron | ENST00000533574 | ENST00000589660 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
intron-intron | ENST00000533574 | ENST00000589686 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
intron-intron | ENST00000533574 | ENST00000589710 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
intron-intron | ENST00000533574 | ENST00000590188 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
intron-intron | ENST00000533574 | ENST00000591935 | ABCA7 | chr19 | 1049436 | + | CIRBP | chr19 | 1264252 | + |
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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 ABCA7-CIRBP |
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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 ABCA7-CIRBP |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:1049436/:1264252) - 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 |
ABCA7 | . |
FUNCTION: Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Transports preferentially phosphatidylserine over phosphatidylcholine (PubMed:24097981). Plays a role in lipid homeostasis and macrophage-mediated phagocytosis (PubMed:14592415, PubMed:12917409, PubMed:12925201, PubMed:14570867). Binds APOA1 and may function in apolipoprotein-mediated phospholipid efflux from cells (PubMed:12917409, PubMed:14570867, PubMed:14592415). May also mediate cholesterol efflux (PubMed:14570867). May regulate cellular ceramide homeostasis during keratinocyte differentiation (PubMed:12925201). Involved in lipid raft organization and CD1D localization on thymocytes and antigen-presenting cells, which plays an important role in natural killer T-cell development and activation (By similarity). Plays a role in phagocytosis of apoptotic cells by macrophages (By similarity). Macrophage phagocytosis is stimulated by APOA1 or APOA2, probably by stabilization of ABCA7 (By similarity). Also involved in phagocytic clearance of amyloid-beta by microglia cells and macrophages (By similarity). Further limits amyloid-beta production by playing a role in the regulation of amyloid-beta A4 precursor protein (APP) endocytosis and/or processing (PubMed:26260791). Amyloid-beta is the main component of amyloid plaques found in the brains of Alzheimer patients (PubMed:26260791). {ECO:0000250|UniProtKB:Q91V24, ECO:0000269|PubMed:12917409, ECO:0000269|PubMed:12925201, ECO:0000269|PubMed:14570867, ECO:0000269|PubMed:14592415, ECO:0000269|PubMed:24097981, ECO:0000269|PubMed:26260791}. | 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 ABCA7-CIRBP |
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Fusion Gene PPI Analysis for ABCA7-CIRBP |
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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 ABCA7-CIRBP |
![]() (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 ABCA7-CIRBP |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ABCA7 | C0276496 | Familial Alzheimer Disease (FAD) | 3 | CTD_human;ORPHANET |
Hgene | ABCA7 | C4282179 | ALZHEIMER DISEASE 9, SUSCEPTIBILITY TO | 3 | UNIPROT |
Hgene | ABCA7 | C0002395 | Alzheimer's Disease | 2 | CTD_human |
Hgene | ABCA7 | C0011265 | Presenile dementia | 2 | CTD_human |
Hgene | ABCA7 | C0494463 | Alzheimer Disease, Late Onset | 2 | CTD_human |
Hgene | ABCA7 | C0546126 | Acute Confusional Senile Dementia | 2 | CTD_human |
Hgene | ABCA7 | C0750900 | Alzheimer's Disease, Focal Onset | 2 | CTD_human |
Hgene | ABCA7 | C0750901 | Alzheimer Disease, Early Onset | 2 | CTD_human |
Hgene | ABCA7 | C0235874 | Disease Exacerbation | 1 | CTD_human |
Tgene | C0151744 | Myocardial Ischemia | 1 | CTD_human | |
Tgene | C0600467 | Neurogenic Inflammation | 1 | CTD_human | |
Tgene | C0751865 | Alcohol-Induced Disorders, Nervous System | 1 | CTD_human | |
Tgene | C1510586 | Autism Spectrum Disorders | 1 | CTD_human |