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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:ABCA6-LMNA (FusionGDB2 ID:HG23460TG4000) |
Fusion Gene Summary for ABCA6-LMNA |
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Fusion gene information | Fusion gene name: ABCA6-LMNA | Fusion gene ID: hg23460tg4000 | Hgene | Tgene | Gene symbol | ABCA6 | LMNA | Gene ID | 23460 | 4000 |
Gene name | ATP binding cassette subfamily A member 6 | lamin A/C | |
Synonyms | EST155051 | CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1 | |
Cytomap | ('ABCA6')('LMNA') 17q24.2-q24.3 | 1q22 | |
Type of gene | protein-coding | protein-coding | |
Description | ATP-binding cassette sub-family A member 6ABC transporter ABCA6ATP-binding cassette A6ATP-binding cassette, sub-family A (ABC1), member 6 | lamin70 kDa laminepididymis secretory sperm binding proteinlamin A/C-like 1mandibuloacral dysplasia type Aprelamin-A/Crenal carcinoma antigen NY-REN-32 | |
Modification date | 20200313 | 20200329 | |
UniProtAcc | Q8N139 | . | |
Ensembl transtripts involved in fusion gene | ENST00000284425, ENST00000446604, ENST00000590645, | ||
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 13 X 16 X 6=1248 |
# samples | 2 | 16 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(16/1248*10)=-2.96347412397489 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ABCA6 [Title/Abstract] AND LMNA [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ABCA6(67079014)-LMNA(156056308), # 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 | LMNA | GO:0090343 | positive regulation of cell aging | 20458013 |
![]() * 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 ABCA6-LMNA |
![]() * 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 ABCA6-LMNA |
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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 ABCA6-LMNA |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:67079014/:156056308) - 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 |
ABCA6 | . |
FUNCTION: Probable transporter which may play a role in macrophage lipid transport and homeostasis. {ECO:0000305|PubMed:10639163}. | 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 ABCA6-LMNA |
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Fusion Gene PPI Analysis for ABCA6-LMNA |
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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 ABCA6-LMNA |
![]() (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 ABCA6-LMNA |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ABCA6 | C0009402 | Colorectal Carcinoma | 1 | CTD_human |
Hgene | ABCA6 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Hgene | ABCA6 | C0162820 | Dermatitis, Allergic Contact | 1 | CTD_human |
Tgene | C1449563 | Cardiomyopathy, Familial Idiopathic | 24 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1720860 | Familial Partial Lipodystrophy, Type 2 | 19 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0033300 | Progeria | 16 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0410190 | Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) | 10 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0432291 | Mandibuloacral dysostosis | 9 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C1720859 | Familial Partial Lipodystrophy, Type 1 | 6 | CTD_human;ORPHANET | |
Tgene | C0271694 | Familial partial lipodystrophy | 5 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0406585 | Lethal tight skin contracture syndrome (disorder) | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0796031 | Malouf syndrome | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0007193 | Cardiomyopathy, Dilated | 4 | CTD_human | |
Tgene | C1720861 | Familial Partial Lipodystrophy, Type 3 | 4 | CTD_human | |
Tgene | C2750035 | Emery-Dreifuss Muscular Dystrophy 3 | 4 | GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C2750785 | MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0410189 | Muscular Dystrophy, Emery-Dreifuss | 3 | CTD_human | |
Tgene | C0686353 | Muscular Dystrophies, Limb-Girdle | 3 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C0751337 | X-Linked Emery-Dreifuss Muscular Dystrophy | 3 | CTD_human | |
Tgene | C1450051 | Autosomal Recessive Emery-Dreifuss Muscular Dystrophy | 3 | CTD_human;ORPHANET | |
Tgene | C1854154 | Charcot-Marie-Tooth disease, Type 2B1 | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C1857829 | Heart-hand syndrome, Slovenian type | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C1832931 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 | 2 | ORPHANET | |
Tgene | C4275075 | Atypical Werner syndrome | 2 | ORPHANET | |
Tgene | C0004245 | Atrioventricular Block | 1 | CTD_human | |
Tgene | C0004331 | Auriculo-Ventricular Dissociation | 1 | CTD_human | |
Tgene | C0011644 | Scleroderma | 1 | CTD_human | |
Tgene | C0016508 | Congenital Foot Deformity | 1 | CTD_human | |
Tgene | C0017668 | Focal glomerulosclerosis | 1 | GENOMICS_ENGLAND | |
Tgene | C0018566 | Congenital Hand Deformities | 1 | CTD_human | |
Tgene | C0018794 | Heart Block | 1 | CTD_human | |
Tgene | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human | |
Tgene | C0036420 | Localized scleroderma | 1 | CTD_human | |
Tgene | C0037188 | Sinoatrial Block | 1 | CTD_human | |
Tgene | C0042514 | Tachycardia, Ventricular | 1 | CTD_human | |
Tgene | C0085298 | Sudden Cardiac Death | 1 | CTD_human | |
Tgene | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human | |
Tgene | C0263409 | Linear Scleroderma | 1 | CTD_human | |
Tgene | C0376634 | Craniofacial Abnormalities | 1 | CTD_human | |
Tgene | C0546264 | Congenital Fiber Type Disproportion | 1 | GENOMICS_ENGLAND | |
Tgene | C0796083 | Najjar syndrome | 1 | ORPHANET | |
Tgene | C1136321 | HIV-Associated Lipodystrophy Syndrome | 1 | CTD_human | |
Tgene | C1136382 | Sclerocystic Ovaries | 1 | CTD_human | |
Tgene | C1527383 | Morphea | 1 | CTD_human | |
Tgene | C1720824 | Sudden Cardiac Arrest | 1 | CTD_human | |
Tgene | C4049702 | Focal Segmental Glomerulosclerosis, Not Otherwise Specified | 1 | GENOMICS_ENGLAND | |
Tgene | C4750858 | LMNA-related cardiocutaneous progeria syndrome | 1 | ORPHANET |