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Fusion gene ID: 19896 |
FusionGeneSummary for LMNA_GAP43 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: LMNA_GAP43 | Fusion gene ID: 19896 | Hgene | Tgene | Gene symbol | LMNA | GAP43 | Gene ID | 4000 | 2596 |
| Gene name | lamin A/C | growth associated protein 43 | |
| Synonyms | CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1 | B-50|PP46 | |
| Cytomap | 1q22 | 3q13.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | lamin70 kDa laminlamin A/C-like 1mandibuloacral dysplasia type Aprelamin-A/Crenal carcinoma antigen NY-REN-32 | neuromodulinaxonal membrane protein GAP-43calmodulin-binding protein P-57nerve growth-related peptide GAP43neural phosphoprotein B-50neuron growth-associated protein 43protein F1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P02545 | P17677 | |
| Ensembl transtripts involved in fusion gene | ENST00000368301, ENST00000361308, ENST00000347559, ENST00000368300, ENST00000368299, ENST00000448611, ENST00000368297, ENST00000473598, ENST00000392353, ENST00000496738, | ENST00000305124, ENST00000393780, | |
| Fusion gene scores | * DoF score | 11 X 12 X 6=792 | 4 X 4 X 3=48 |
| # samples | 14 | 4 | |
| ** MAII score | log2(14/792*10)=-2.50007360313464 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: LMNA [Title/Abstract] AND GAP43 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | LMNA | GO:0090343 | positive regulation of cell aging | 20458013 |
| Tgene | GAP43 | GO:0051489 | regulation of filopodium assembly | 14978216 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| ChiTaRS3.1 | AK123311 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure. * 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 |
| intron-5UTR | ENST00000368301 | ENST00000305124 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000368301 | ENST00000393780 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000361308 | ENST00000305124 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000361308 | ENST00000393780 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000347559 | ENST00000305124 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000347559 | ENST00000393780 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000368300 | ENST00000305124 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000368300 | ENST00000393780 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000368299 | ENST00000305124 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000368299 | ENST00000393780 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000448611 | ENST00000305124 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000448611 | ENST00000393780 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000368297 | ENST00000305124 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000368297 | ENST00000393780 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000473598 | ENST00000305124 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000473598 | ENST00000393780 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000392353 | ENST00000305124 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000392353 | ENST00000393780 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000496738 | ENST00000305124 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
| intron-5UTR | ENST00000496738 | ENST00000393780 | LMNA | chr1 | 156086800 | + | GAP43 | chr3 | 115342509 | + |
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FusionProtFeatures for LMNA_GAP43 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| LMNA | GAP43 |
| This protein is associated with nerve growth. It is amajor component of the motile "growth cones" that form the tips ofelongating axons. Plays a role in axonal and dendritic filopodiainduction. {ECO:0000269|PubMed:14978216,ECO:0000269|PubMed:21152083}. |
| Retention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at . * 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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FusionGeneSequence for LMNA_GAP43 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for LMNA_GAP43 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for LMNA_GAP43 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for LMNA_GAP43 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | LMNA | C0410190 | Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) | 19 | ORPHANET;UNIPROT |
| Hgene | LMNA | C1449563 | Cardiomyopathy, Familial Idiopathic | 17 | ORPHANET;UNIPROT |
| Hgene | LMNA | C0033300 | Progeria | 14 | CTD_human;ORPHANET;UNIPROT |
| Hgene | LMNA | C1720860 | Familial Partial Lipodystrophy, Type 2 | 10 | ORPHANET;UNIPROT |
| Hgene | LMNA | C1834653 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) | 7 | CTD_human;ORPHANET;UNIPROT |
| Hgene | LMNA | C0432291 | Mandibuloacral dysostosis | 5 | CTD_human;ORPHANET;UNIPROT |
| Hgene | LMNA | C0271694 | Familial partial lipodystrophy | 4 | CTD_human |
| Hgene | LMNA | C0007193 | Cardiomyopathy, Dilated | 3 | CTD_human;HPO |
| Hgene | LMNA | C0796031 | Malouf syndrome | 3 | ORPHANET;UNIPROT |
| Hgene | LMNA | C2750035 | Emery-Dreifuss Muscular Dystrophy 3 | 2 | UNIPROT |
| Hgene | LMNA | C2750785 | MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | LMNA | C0016508 | Congenital Foot Deformity | 1 | CTD_human |
| Hgene | LMNA | C0018566 | Congenital Hand Deformities | 1 | CTD_human |
| Hgene | LMNA | C0018794 | Heart Block | 1 | CTD_human |
| Hgene | LMNA | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human;HPO |
| Hgene | LMNA | C0036420 | Localized scleroderma | 1 | CTD_human |
| Hgene | LMNA | C0037188 | Sinoatrial Block | 1 | CTD_human |
| Hgene | LMNA | C0042514 | Tachycardia, Ventricular | 1 | CTD_human |
| Hgene | LMNA | C0085298 | Sudden Cardiac Death | 1 | CTD_human;HPO |
| Hgene | LMNA | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| Hgene | LMNA | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Hgene | LMNA | C0410189 | Muscular Dystrophy, Emery-Dreifuss | 1 | CTD_human |
| Hgene | LMNA | C0686353 | Muscular Dystrophies, Limb-Girdle | 1 | CTD_human;HPO |
| Hgene | LMNA | C1136321 | HIV-Associated Lipodystrophy Syndrome | 1 | CTD_human |
| Hgene | LMNA | C1854154 | Charcot-Marie-Tooth disease, Type 2B1 | 1 | CTD_human;ORPHANET;UNIPROT |
| Tgene | GAP43 | C0036341 | Schizophrenia | 4 | PSYGENET |
| Tgene | GAP43 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Tgene | GAP43 | C0005586 | Bipolar Disorder | 1 | PSYGENET |
| Tgene | GAP43 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| Tgene | GAP43 | C0011570 | Mental Depression | 1 | PSYGENET |
| Tgene | GAP43 | C0011581 | Depressive disorder | 1 | PSYGENET |
| Tgene | GAP43 | C0013415 | Dysthymic Disorder | 1 | PSYGENET |
| Tgene | GAP43 | C0038220 | Status Epilepticus | 1 | CTD_human |
| Tgene | GAP43 | C0525045 | Mood Disorders | 1 | PSYGENET |
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