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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:ABCA13-ACTB (FusionGDB2 ID:HG154664TG60) |
Fusion Gene Summary for ABCA13-ACTB |
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Fusion gene information | Fusion gene name: ABCA13-ACTB | Fusion gene ID: hg154664tg60 | Hgene | Tgene | Gene symbol | ABCA13 | ACTB | Gene ID | 154664 | 60 |
Gene name | ATP binding cassette subfamily A member 13 | actin beta | |
Synonyms | - | BRWS1|PS1TP5BP1 | |
Cytomap | ('ABCA13')('ACTB') 7p12.3 | 7p22.1 | |
Type of gene | protein-coding | protein-coding | |
Description | ATP-binding cassette sub-family A member 13ATP binding cassette transporter A13ATP-binding cassette sub-family A member 13 variant 2ATP-binding cassette sub-family A member 13 variant 3ATP-binding cassette, sub-family A (ABC1), member 13 | actin, cytoplasmic 1I(2)-actinPS1TP5-binding protein 1beta cytoskeletal actin | |
Modification date | 20200313 | 20200327 | |
UniProtAcc | Q86UQ4 | P60709 | |
Ensembl transtripts involved in fusion gene | ENST00000435803, ENST00000544596, | ||
Fusion gene scores | * DoF score | 7 X 7 X 2=98 | 52 X 37 X 11=21164 |
# samples | 8 | 58 | |
** MAII score | log2(8/98*10)=-0.292781749227846 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(58/21164*10)=-5.1894156123924 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ABCA13 [Title/Abstract] AND ACTB [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ABCA13(48127456)-ACTB(5597267), # 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 |
Tgene | ACTB | GO:0098974 | postsynaptic actin cytoskeleton organization | 18341992 |
![]() * 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 |
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Fusion Gene ORF analysis for ABCA13-ACTB |
![]() * 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 |
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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 ABCA13-ACTB |
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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 ABCA13-ACTB |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:48127456/:5597267) - 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 |
ABCA13 | ACTB |
FUNCTION: May mediate the cholesterol and gangliosides transport from the plasma membrane to intracellular vesicles in an ATP hydrolysis dependent manner, thus playing a role in their internalization by endocytic retrograde transport and may also participate in the endocytosis of synaptic vesicle in cortical neurons. {ECO:0000269|PubMed:33293368}. | FUNCTION: Actin is a highly conserved protein that polymerizes to produce filaments that form cross-linked networks in the cytoplasm of cells (PubMed:29581253). Actin exists in both monomeric (G-actin) and polymeric (F-actin) forms, both forms playing key functions, such as cell motility and contraction (PubMed:29581253). In addition to their role in the cytoplasmic cytoskeleton, G- and F-actin also localize in the nucleus, and regulate gene transcription and motility and repair of damaged DNA (PubMed:29925947). {ECO:0000269|PubMed:29581253, ECO:0000269|PubMed:29925947}. |
![]() * 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 ABCA13-ACTB |
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Fusion Gene PPI Analysis for ABCA13-ACTB |
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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 ABCA13-ACTB |
![]() (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 ABCA13-ACTB |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ABCA13 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
Hgene | ABCA13 | C0009402 | Colorectal Carcinoma | 1 | CTD_human |
Hgene | ABCA13 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Hgene | ABCA13 | C0036341 | Schizophrenia | 1 | PSYGENET |
Hgene | ABCA13 | C0235874 | Disease Exacerbation | 1 | CTD_human |
Tgene | C1855722 | Iris Coloboma with Ptosis, Hypertelorism, and Mental Retardation | 6 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C1846331 | Juvenile-onset dystonia | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C1853623 | Fryns-Aftimos Syndrome | 2 | GENOMICS_ENGLAND | |
Tgene | C2239176 | Liver carcinoma | 2 | CTD_human | |
Tgene | C0003129 | Anoxemia | 1 | CTD_human | |
Tgene | C0003130 | Anoxia | 1 | CTD_human | |
Tgene | C0005586 | Bipolar Disorder | 1 | PSYGENET | |
Tgene | C0005818 | Blood Platelet Disorders | 1 | GENOMICS_ENGLAND | |
Tgene | C0007097 | Carcinoma | 1 | CTD_human | |
Tgene | C0009363 | Congenital ocular coloboma (disorder) | 1 | CTD_human | |
Tgene | C0013393 | Dysostoses | 1 | CTD_human | |
Tgene | C0013421 | Dystonia | 1 | CTD_human | |
Tgene | C0014859 | Esophageal Neoplasms | 1 | CTD_human | |
Tgene | C0018784 | Sensorineural Hearing Loss (disorder) | 1 | CTD_human | |
Tgene | C0019193 | Hepatitis, Toxic | 1 | CTD_human | |
Tgene | C0024121 | Lung Neoplasms | 1 | CTD_human | |
Tgene | C0024667 | Animal Mammary Neoplasms | 1 | CTD_human | |
Tgene | C0024668 | Mammary Neoplasms, Experimental | 1 | CTD_human | |
Tgene | C0027626 | Neoplasm Invasiveness | 1 | CTD_human | |
Tgene | C0029408 | Degenerative polyarthritis | 1 | CTD_human | |
Tgene | C0036341 | Schizophrenia | 1 | PSYGENET | |
Tgene | C0086743 | Osteoarthrosis Deformans | 1 | CTD_human | |
Tgene | C0151744 | Myocardial Ischemia | 1 | CTD_human | |
Tgene | C0205696 | Anaplastic carcinoma | 1 | CTD_human | |
Tgene | C0205697 | Carcinoma, Spindle-Cell | 1 | CTD_human | |
Tgene | C0205698 | Undifferentiated carcinoma | 1 | CTD_human | |
Tgene | C0205699 | Carcinomatosis | 1 | CTD_human | |
Tgene | C0242184 | Hypoxia | 1 | CTD_human | |
Tgene | C0242379 | Malignant neoplasm of lung | 1 | CTD_human | |
Tgene | C0263579 | Pigmented hairy epidermal nevus | 1 | ORPHANET | |
Tgene | C0265541 | Cranioschisis | 1 | CTD_human | |
Tgene | C0272183 | Qualitative abnormality of granulocyte | 1 | GENOMICS_ENGLAND | |
Tgene | C0376634 | Craniofacial Abnormalities | 1 | CTD_human | |
Tgene | C0393588 | Dystonia, Paroxysmal | 1 | CTD_human | |
Tgene | C0393610 | Dystonia, Diurnal | 1 | CTD_human | |
Tgene | C0497552 | Congenital neurologic anomalies | 1 | CTD_human | |
Tgene | C0546837 | Malignant neoplasm of esophagus | 1 | CTD_human | |
Tgene | C0700292 | Hypoxemia | 1 | CTD_human | |
Tgene | C0751093 | Dystonia, Limb | 1 | CTD_human | |
Tgene | C0860207 | Drug-Induced Liver Disease | 1 | CTD_human | |
Tgene | C1257925 | Mammary Carcinoma, Animal | 1 | CTD_human | |
Tgene | C1262760 | Hepatitis, Drug-Induced | 1 | CTD_human | |
Tgene | C1691779 | Sensory hearing loss | 1 | CTD_human | |
Tgene | C1858042 | Becker Nevus Syndrome | 1 | ORPHANET | |
Tgene | C3658290 | Drug-Induced Acute Liver Injury | 1 | CTD_human | |
Tgene | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human | |
Tgene | C4279912 | Chemically-Induced Liver Toxicity | 1 | CTD_human | |
Tgene | C4554007 | Uveoretinal Coloboma | 1 | CTD_human |