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Fusion gene ID: 40378 |
FusionGeneSummary for UBC_LMNA |
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Fusion gene information | Fusion gene name: UBC_LMNA | Fusion gene ID: 40378 | Hgene | Tgene | Gene symbol | UBC | LMNA | Gene ID | 7316 | 4000 |
Gene name | ubiquitin C | lamin A/C | |
Synonyms | HMG20 | CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1 | |
Cytomap | 12q24.31 | 1q22 | |
Type of gene | protein-coding | protein-coding | |
Description | polyubiquitin-C | lamin70 kDa laminlamin A/C-like 1mandibuloacral dysplasia type Aprelamin-A/Crenal carcinoma antigen NY-REN-32 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P0CG48 | P02545 | |
Ensembl transtripts involved in fusion gene | ENST00000536769, ENST00000538617, ENST00000546120, ENST00000339647, ENST00000536661, | ENST00000368301, ENST00000361308, ENST00000347559, ENST00000368300, ENST00000368299, ENST00000448611, ENST00000368297, ENST00000473598, ENST00000392353, ENST00000496738, | |
Fusion gene scores | * DoF score | 6 X 6 X 1=36 | 9 X 11 X 3=297 |
# samples | 6 | 11 | |
** MAII score | log2(6/36*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(11/297*10)=-1.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: UBC [Title/Abstract] AND LMNA [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | LMNA | GO:0090343 | positive regulation of cell aging | 20458013 |
![]() (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 | DA586628 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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-3CDS | ENST00000536769 | ENST00000368301 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000536769 | ENST00000361308 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000536769 | ENST00000347559 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000536769 | ENST00000368300 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000536769 | ENST00000368299 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000536769 | ENST00000448611 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000536769 | ENST00000368297 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000536769 | ENST00000473598 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000536769 | ENST00000392353 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-intron | ENST00000536769 | ENST00000496738 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000538617 | ENST00000368301 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000538617 | ENST00000361308 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000538617 | ENST00000347559 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000538617 | ENST00000368300 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000538617 | ENST00000368299 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000538617 | ENST00000448611 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000538617 | ENST00000368297 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000538617 | ENST00000473598 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000538617 | ENST00000392353 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-intron | ENST00000538617 | ENST00000496738 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000546120 | ENST00000368301 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000546120 | ENST00000361308 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000546120 | ENST00000347559 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000546120 | ENST00000368300 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000546120 | ENST00000368299 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000546120 | ENST00000448611 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000546120 | ENST00000368297 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000546120 | ENST00000473598 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000546120 | ENST00000392353 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-intron | ENST00000546120 | ENST00000496738 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000339647 | ENST00000368301 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000339647 | ENST00000361308 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000339647 | ENST00000347559 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000339647 | ENST00000368300 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000339647 | ENST00000368299 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000339647 | ENST00000448611 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000339647 | ENST00000368297 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000339647 | ENST00000473598 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000339647 | ENST00000392353 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-intron | ENST00000339647 | ENST00000496738 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000536661 | ENST00000368301 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000536661 | ENST00000361308 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000536661 | ENST00000347559 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000536661 | ENST00000368300 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000536661 | ENST00000368299 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000536661 | ENST00000448611 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000536661 | ENST00000368297 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000536661 | ENST00000473598 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-3CDS | ENST00000536661 | ENST00000392353 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
intron-intron | ENST00000536661 | ENST00000496738 | UBC | chr12 | 125398788 | - | LMNA | chr1 | 156104269 | + |
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FusionProtFeatures for UBC_LMNA |
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Hgene | Tgene |
UBC | LMNA |
![]() * 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 UBC_LMNA |
![]() (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 UBC_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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RelatedDrugs for UBC_LMNA |
![]() (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 UBC_LMNA |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | LMNA | C0410190 | Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) | 19 | ORPHANET;UNIPROT |
Tgene | LMNA | C1449563 | Cardiomyopathy, Familial Idiopathic | 17 | ORPHANET;UNIPROT |
Tgene | LMNA | C0033300 | Progeria | 14 | CTD_human;ORPHANET;UNIPROT |
Tgene | LMNA | C1720860 | Familial Partial Lipodystrophy, Type 2 | 10 | ORPHANET;UNIPROT |
Tgene | LMNA | C1834653 | MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B (disorder) | 7 | CTD_human;ORPHANET;UNIPROT |
Tgene | LMNA | C0432291 | Mandibuloacral dysostosis | 5 | CTD_human;ORPHANET;UNIPROT |
Tgene | LMNA | C0271694 | Familial partial lipodystrophy | 4 | CTD_human |
Tgene | LMNA | C0007193 | Cardiomyopathy, Dilated | 3 | CTD_human;HPO |
Tgene | LMNA | C0796031 | Malouf syndrome | 3 | ORPHANET;UNIPROT |
Tgene | LMNA | C2750035 | Emery-Dreifuss Muscular Dystrophy 3 | 2 | UNIPROT |
Tgene | LMNA | C2750785 | MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) | 2 | CTD_human;ORPHANET;UNIPROT |
Tgene | LMNA | C0016508 | Congenital Foot Deformity | 1 | CTD_human |
Tgene | LMNA | C0018566 | Congenital Hand Deformities | 1 | CTD_human |
Tgene | LMNA | C0018794 | Heart Block | 1 | CTD_human |
Tgene | LMNA | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human;HPO |
Tgene | LMNA | C0036420 | Localized scleroderma | 1 | CTD_human |
Tgene | LMNA | C0037188 | Sinoatrial Block | 1 | CTD_human |
Tgene | LMNA | C0042514 | Tachycardia, Ventricular | 1 | CTD_human |
Tgene | LMNA | C0085298 | Sudden Cardiac Death | 1 | CTD_human;HPO |
Tgene | LMNA | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
Tgene | LMNA | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Tgene | LMNA | C0410189 | Muscular Dystrophy, Emery-Dreifuss | 1 | CTD_human |
Tgene | LMNA | C0686353 | Muscular Dystrophies, Limb-Girdle | 1 | CTD_human;HPO |
Tgene | LMNA | C1136321 | HIV-Associated Lipodystrophy Syndrome | 1 | CTD_human |
Tgene | LMNA | C1854154 | Charcot-Marie-Tooth disease, Type 2B1 | 1 | CTD_human;ORPHANET;UNIPROT |