![]() |
||||||
|
![]() | 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:ACACA-CAMSAP1 (FusionGDB2 ID:HG31TG157922) |
Fusion Gene Summary for ACACA-CAMSAP1 |
![]() |
Fusion gene information | Fusion gene name: ACACA-CAMSAP1 | Fusion gene ID: hg31tg157922 | Hgene | Tgene | Gene symbol | ACACA | CAMSAP1 | Gene ID | 31 | 157922 |
Gene name | acetyl-CoA carboxylase alpha | calmodulin regulated spectrin associated protein 1 | |
Synonyms | ACAC|ACACAD|ACC|ACC1|ACCA | - | |
Cytomap | ('ACACA')('CAMSAP1') 17q12 | 9q34.3 | |
Type of gene | protein-coding | protein-coding | |
Description | acetyl-CoA carboxylase 1ACC-alphaacetyl-Coenzyme A carboxylase alpha | calmodulin-regulated spectrin-associated protein 1epididymis secretory sperm binding protein | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | Q5T5Y3 | |
Ensembl transtripts involved in fusion gene | ENST00000335166, ENST00000353139, ENST00000360679, ENST00000361253, ENST00000394406, ENST00000416895, ENST00000588142, ENST00000589665, | ||
Fusion gene scores | * DoF score | 44 X 35 X 17=26180 | 2 X 2 X 1=4 |
# samples | 51 | 2 | |
** MAII score | log2(51/26180*10)=-5.68182403997375 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(2/4*10)=2.32192809488736 | |
Context | PubMed: ACACA [Title/Abstract] AND CAMSAP1 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ACACA(35710583)-CAMSAP1(138701436), # 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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | CAMSAP1 | GO:0000226 | microtubule cytoskeleton organization | 24486153|24706919 |
Tgene | CAMSAP1 | GO:0031113 | regulation of microtubule polymerization | 24486153|24706919 |
![]() * 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 |
Top |
Fusion Gene ORF analysis for ACACA-CAMSAP1 |
![]() * 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 |
![]() |
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) |
![]() |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
Top |
Fusion Genomic Features for ACACA-CAMSAP1 |
![]() |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Top |
Fusion Protein Features for ACACA-CAMSAP1 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:35710583/:138701436) - 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. |
![]() |
![]() |
Hgene | Tgene |
. | CAMSAP1 |
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: Key microtubule-organizing protein that specifically binds the minus-end of non-centrosomal microtubules and regulates their dynamics and organization (PubMed:19508979, PubMed:21834987, PubMed:24486153, PubMed:24706919, PubMed:24117850). Specifically recognizes growing microtubule minus-ends and stabilizes microtubules (PubMed:24486153, PubMed:24706919). Acts on free microtubule minus-ends that are not capped by microtubule-nucleating proteins or other factors and protects microtubule minus-ends from depolymerization (PubMed:24486153, PubMed:24706919). In contrast to CAMSAP2 and CAMSAP3, tracks along the growing tips of minus-end microtubules without significantly affecting the polymerization rate: binds at the very tip of the microtubules minus-end and acts as a minus-end tracking protein (-TIP) that dissociates from microtubules after allowing tubulin incorporation (PubMed:24486153, PubMed:24706919). Through interaction with spectrin may regulate neurite outgrowth (PubMed:24117850). {ECO:0000269|PubMed:19508979, ECO:0000269|PubMed:21834987, ECO:0000269|PubMed:24117850, ECO:0000269|PubMed:24486153, ECO:0000269|PubMed:24706919}. |
![]() * 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 |
Top |
Fusion Gene Sequence for ACACA-CAMSAP1 |
![]() |
Top |
Fusion Gene PPI Analysis for ACACA-CAMSAP1 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
Related Drugs for ACACA-CAMSAP1 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
Related Diseases for ACACA-CAMSAP1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ACACA | C0018801 | Heart failure | 1 | CTD_human |
Hgene | ACACA | C0018802 | Congestive heart failure | 1 | CTD_human |
Hgene | ACACA | C0023212 | Left-Sided Heart Failure | 1 | CTD_human |
Hgene | ACACA | C0235527 | Heart Failure, Right-Sided | 1 | CTD_human |
Hgene | ACACA | C1959583 | Myocardial Failure | 1 | CTD_human |
Hgene | ACACA | C1961112 | Heart Decompensation | 1 | CTD_human |
Hgene | ACACA | C2239176 | Liver carcinoma | 1 | CTD_human |
Tgene | C0087031 | Juvenile-Onset Still Disease | 1 | CTD_human | |
Tgene | C3495559 | Juvenile arthritis | 1 | CTD_human | |
Tgene | C3714758 | Juvenile psoriatic arthritis | 1 | CTD_human | |
Tgene | C4552091 | Polyarthritis, Juvenile, Rheumatoid Factor Negative | 1 | CTD_human | |
Tgene | C4704862 | Polyarthritis, Juvenile, Rheumatoid Factor Positive | 1 | CTD_human |