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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:AGPS-LMNA (FusionGDB2 ID:HG8540TG4000) |
Fusion Gene Summary for AGPS-LMNA |
Fusion gene summary |
Fusion gene information | Fusion gene name: AGPS-LMNA | Fusion gene ID: hg8540tg4000 | Hgene | Tgene | Gene symbol | AGPS | LMNA | Gene ID | 8540 | 4000 |
Gene name | alkylglycerone phosphate synthase | lamin A/C | |
Synonyms | ADAP-S|ADAS|ADHAPS|ADPS|ALDHPSY|RCDP3 | CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1 | |
Cytomap | ('AGPS')('LMNA') 2q31.2 | 1q22 | |
Type of gene | protein-coding | protein-coding | |
Description | alkyldihydroxyacetonephosphate synthase, peroxisomalaging-associated gene 5 proteinaging-associated protein 5alkyl-DHAP synthase | 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 | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000264167, ENST00000409888, | ||
Fusion gene scores | * DoF score | 8 X 8 X 7=448 | 13 X 16 X 6=1248 |
# samples | 10 | 16 | |
** MAII score | log2(10/448*10)=-2.16349873228288 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/1248*10)=-2.96347412397489 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: AGPS [Title/Abstract] AND LMNA [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | AGPS(178310354)-LMNA(156104595), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | AGPS-LMNA seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. AGPS-LMNA seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. AGPS-LMNA seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. AGPS-LMNA seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* 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 | AGPS | GO:0008610 | lipid biosynthetic process | 9553082 |
Tgene | LMNA | GO:0090343 | positive regulation of cell aging | 20458013 |
Fusion gene breakpoints across AGPS (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene breakpoints across LMNA (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
Fusion gene information * 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 |
ChimerDB4 | KIRC | TCGA-B0-5399 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
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Fusion Gene ORF analysis for AGPS-LMNA |
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 |
5CDS-intron | ENST00000264167 | ENST00000496738 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
In-frame | ENST00000264167 | ENST00000347559 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
In-frame | ENST00000264167 | ENST00000361308 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
In-frame | ENST00000264167 | ENST00000368297 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
In-frame | ENST00000264167 | ENST00000368299 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
In-frame | ENST00000264167 | ENST00000368300 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
In-frame | ENST00000264167 | ENST00000368301 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
In-frame | ENST00000264167 | ENST00000392353 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
In-frame | ENST00000264167 | ENST00000448611 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
In-frame | ENST00000264167 | ENST00000473598 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
intron-3CDS | ENST00000409888 | ENST00000347559 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
intron-3CDS | ENST00000409888 | ENST00000361308 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
intron-3CDS | ENST00000409888 | ENST00000368297 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
intron-3CDS | ENST00000409888 | ENST00000368299 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
intron-3CDS | ENST00000409888 | ENST00000368300 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
intron-3CDS | ENST00000409888 | ENST00000368301 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
intron-3CDS | ENST00000409888 | ENST00000392353 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
intron-3CDS | ENST00000409888 | ENST00000448611 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
intron-3CDS | ENST00000409888 | ENST00000473598 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
intron-intron | ENST00000409888 | ENST00000496738 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
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) |
ENST00000264167 | AGPS | chr2 | 178310354 | + | ENST00000368301 | LMNA | chr1 | 156104595 | + | 2197 | 1016 | 68 | 2095 | 675 |
ENST00000264167 | AGPS | chr2 | 178310354 | + | ENST00000361308 | LMNA | chr1 | 156104595 | + | 2197 | 1016 | 68 | 2095 | 675 |
ENST00000264167 | AGPS | chr2 | 178310354 | + | ENST00000347559 | LMNA | chr1 | 156104595 | + | 3263 | 1016 | 68 | 2281 | 737 |
ENST00000264167 | AGPS | chr2 | 178310354 | + | ENST00000368300 | LMNA | chr1 | 156104595 | + | 3355 | 1016 | 68 | 2371 | 767 |
ENST00000264167 | AGPS | chr2 | 178310354 | + | ENST00000368299 | LMNA | chr1 | 156104595 | + | 2433 | 1016 | 68 | 2221 | 717 |
ENST00000264167 | AGPS | chr2 | 178310354 | + | ENST00000448611 | LMNA | chr1 | 156104595 | + | 2612 | 1016 | 68 | 2437 | 789 |
ENST00000264167 | AGPS | chr2 | 178310354 | + | ENST00000368297 | LMNA | chr1 | 156104595 | + | 2197 | 1016 | 68 | 2095 | 675 |
ENST00000264167 | AGPS | chr2 | 178310354 | + | ENST00000473598 | LMNA | chr1 | 156104595 | + | 2569 | 1016 | 68 | 2371 | 767 |
ENST00000264167 | AGPS | chr2 | 178310354 | + | ENST00000392353 | LMNA | chr1 | 156104595 | + | 2197 | 1016 | 68 | 2095 | 675 |
DeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000264167 | ENST00000368301 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + | 0.014424324 | 0.9855757 |
ENST00000264167 | ENST00000361308 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + | 0.014424324 | 0.9855757 |
ENST00000264167 | ENST00000347559 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + | 0.00935209 | 0.99064785 |
ENST00000264167 | ENST00000368300 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + | 0.007298089 | 0.9927019 |
ENST00000264167 | ENST00000368299 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + | 0.015775016 | 0.98422503 |
ENST00000264167 | ENST00000448611 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + | 0.010469984 | 0.98953 |
ENST00000264167 | ENST00000368297 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + | 0.014424324 | 0.9855757 |
ENST00000264167 | ENST00000473598 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + | 0.014060487 | 0.9859395 |
ENST00000264167 | ENST00000392353 | AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + | 0.014424324 | 0.9855757 |
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Fusion Genomic Features for AGPS-LMNA |
FusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + | 6.50E-10 | 1 |
AGPS | chr2 | 178310354 | + | LMNA | chr1 | 156104595 | + | 6.50E-10 | 1 |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page. |
Distribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page. |
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Fusion Protein Features for AGPS-LMNA |
Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr2:178310354/chr1:156104595) - 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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
. | . |
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: 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}. |
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 |
Hgene | AGPS | chr2:178310354 | chr1:156104595 | ENST00000264167 | + | 8 | 20 | 2_8 | 290 | 659.0 | Compositional bias | Note=Poly-Ala |
Hgene | AGPS | chr2:178310354 | chr1:156104595 | ENST00000264167 | + | 8 | 20 | 234_240 | 290 | 659.0 | Nucleotide binding | FAD |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000347559 | 2 | 11 | 428_545 | 213 | 635.0 | Domain | LTD | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000361308 | 2 | 10 | 428_545 | 213 | 573.0 | Domain | LTD | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368300 | 2 | 12 | 428_545 | 213 | 665.0 | Domain | LTD | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368301 | 5 | 13 | 428_545 | 213 | 573.0 | Domain | LTD | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000448611 | 2 | 13 | 428_545 | 101 | 575.0 | Domain | LTD | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000347559 | 2 | 11 | 417_422 | 213 | 635.0 | Motif | Nuclear localization signal | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000361308 | 2 | 10 | 417_422 | 213 | 573.0 | Motif | Nuclear localization signal | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368300 | 2 | 12 | 417_422 | 213 | 665.0 | Motif | Nuclear localization signal | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368301 | 5 | 13 | 417_422 | 213 | 573.0 | Motif | Nuclear localization signal | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000448611 | 2 | 13 | 417_422 | 101 | 575.0 | Motif | Nuclear localization signal | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000347559 | 2 | 11 | 219_242 | 213 | 635.0 | Region | Note=Linker 2 | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000347559 | 2 | 11 | 243_383 | 213 | 635.0 | Region | Note=Coil 2 | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000347559 | 2 | 11 | 384_664 | 213 | 635.0 | Region | Note=Tail | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000361308 | 2 | 10 | 219_242 | 213 | 573.0 | Region | Note=Linker 2 | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000361308 | 2 | 10 | 243_383 | 213 | 573.0 | Region | Note=Coil 2 | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000361308 | 2 | 10 | 384_664 | 213 | 573.0 | Region | Note=Tail | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368300 | 2 | 12 | 219_242 | 213 | 665.0 | Region | Note=Linker 2 | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368300 | 2 | 12 | 243_383 | 213 | 665.0 | Region | Note=Coil 2 | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368300 | 2 | 12 | 384_664 | 213 | 665.0 | Region | Note=Tail | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368301 | 5 | 13 | 219_242 | 213 | 573.0 | Region | Note=Linker 2 | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368301 | 5 | 13 | 243_383 | 213 | 573.0 | Region | Note=Coil 2 | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368301 | 5 | 13 | 384_664 | 213 | 573.0 | Region | Note=Tail | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000448611 | 2 | 13 | 219_242 | 101 | 575.0 | Region | Note=Linker 2 | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000448611 | 2 | 13 | 243_383 | 101 | 575.0 | Region | Note=Coil 2 | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000448611 | 2 | 13 | 384_664 | 101 | 575.0 | Region | Note=Tail |
- 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 |
Hgene | AGPS | chr2:178310354 | chr1:156104595 | ENST00000264167 | + | 8 | 20 | 202_384 | 290 | 659.0 | Domain | FAD-binding PCMH-type |
Hgene | AGPS | chr2:178310354 | chr1:156104595 | ENST00000264167 | + | 8 | 20 | 303_309 | 290 | 659.0 | Nucleotide binding | FAD |
Hgene | AGPS | chr2:178310354 | chr1:156104595 | ENST00000264167 | + | 8 | 20 | 316_319 | 290 | 659.0 | Nucleotide binding | FAD |
Hgene | AGPS | chr2:178310354 | chr1:156104595 | ENST00000264167 | + | 8 | 20 | 368_374 | 290 | 659.0 | Nucleotide binding | FAD |
Hgene | AGPS | chr2:178310354 | chr1:156104595 | ENST00000264167 | + | 8 | 20 | 615_617 | 290 | 659.0 | Region | Important for enzyme activity |
Hgene | AGPS | chr2:178310354 | chr1:156104595 | ENST00000264167 | + | 8 | 20 | 654_658 | 290 | 659.0 | Region | Important for enzyme activity |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000347559 | 2 | 11 | 31_387 | 213 | 635.0 | Domain | IF rod | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000361308 | 2 | 10 | 31_387 | 213 | 573.0 | Domain | IF rod | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368300 | 2 | 12 | 31_387 | 213 | 665.0 | Domain | IF rod | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368301 | 5 | 13 | 31_387 | 213 | 573.0 | Domain | IF rod | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000448611 | 2 | 13 | 31_387 | 101 | 575.0 | Domain | IF rod | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000347559 | 2 | 11 | 1_33 | 213 | 635.0 | Region | Note=Head | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000347559 | 2 | 11 | 34_70 | 213 | 635.0 | Region | Note=Coil 1A | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000347559 | 2 | 11 | 71_80 | 213 | 635.0 | Region | Note=Linker 1 | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000347559 | 2 | 11 | 81_218 | 213 | 635.0 | Region | Note=Coil 1B | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000361308 | 2 | 10 | 1_33 | 213 | 573.0 | Region | Note=Head | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000361308 | 2 | 10 | 34_70 | 213 | 573.0 | Region | Note=Coil 1A | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000361308 | 2 | 10 | 71_80 | 213 | 573.0 | Region | Note=Linker 1 | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000361308 | 2 | 10 | 81_218 | 213 | 573.0 | Region | Note=Coil 1B | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368300 | 2 | 12 | 1_33 | 213 | 665.0 | Region | Note=Head | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368300 | 2 | 12 | 34_70 | 213 | 665.0 | Region | Note=Coil 1A | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368300 | 2 | 12 | 71_80 | 213 | 665.0 | Region | Note=Linker 1 | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368300 | 2 | 12 | 81_218 | 213 | 665.0 | Region | Note=Coil 1B | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368301 | 5 | 13 | 1_33 | 213 | 573.0 | Region | Note=Head | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368301 | 5 | 13 | 34_70 | 213 | 573.0 | Region | Note=Coil 1A | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368301 | 5 | 13 | 71_80 | 213 | 573.0 | Region | Note=Linker 1 | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368301 | 5 | 13 | 81_218 | 213 | 573.0 | Region | Note=Coil 1B | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000448611 | 2 | 13 | 1_33 | 101 | 575.0 | Region | Note=Head | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000448611 | 2 | 13 | 34_70 | 101 | 575.0 | Region | Note=Coil 1A | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000448611 | 2 | 13 | 71_80 | 101 | 575.0 | Region | Note=Linker 1 | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000448611 | 2 | 13 | 81_218 | 101 | 575.0 | Region | Note=Coil 1B |
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Fusion Gene Sequence for AGPS-LMNA |
For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones. |
>2980_2980_1_AGPS-LMNA_AGPS_chr2_178310354_ENST00000264167_LMNA_chr1_156104595_ENST00000347559_length(transcript)=3263nt_BP=1016nt GTGAAGCTCCAGACGCATGGCACCCGCCGCCAAGTCGCCGCGGTGGCTGCCGGGATGCGCCGCAGCGAATGGTCGCGCCGGGCGCCGCTC TGAGTGACCTTTCACCCGCGCCCAGCGGTTCCGGGCGGCAGCACAAGGCGGTAGCCATGGCGGAGGCGGCGGCTGCAGCGGGTGGGACTG GCTTGGGCGCGGGCGCGAGCTACGGGTCTGCAGCGGACCGGGACCGGGACCCGGACCCGGACCGCGCCGGGCGGAGGCTGCGGGTTCTCT CTGGCCATCTGCTGGGCCGGCCCCGGGAGGCTCTGAGTACCAATGAGTGCAAAGCGCGGAGAGCCGCGTCGGCGGCCACGGCAGCGCCCA CGGCCACTCCCGCCGCGCAGGAGTCGGGCACCATCCCAAAGAAGCGGCAAGAAGTTATGAAATGGAATGGATGGGGATATAATGATTCTA AATTCATCTTCAATAAGAAGGGCCAAATTGAATTGACTGGGAAAAGGTACCCTCTTAGTGGCATGGGTTTACCAACATTTAAAGAATGGA TCCAAAATACCCTTGGAGTAAATGTGGAGCATAAAACTACCTCTAAAGCATCCTTAAATCCTAGTGATACACCTCCTTCTGTTGTAAATG AAGATTTTCTTCATGACCTTAAAGAAACTAATATTTCATATTCACAAGAGGCAGATGATCGAGTATTTAGAGCTCATGGTCATTGTCTTC ATGAGATATTTTTGCTCAGGGAAGGAATGTTTGAGCGAATTCCTGATATAGTTTTATGGCCAACATGCCATGATGATGTAGTTAAGATTG TGAATCTAGCTTGCAAATATAATCTTTGTATCATACCAATTGGTGGAGGAACAAGTGTTTCATATGGCCTGATGTGTCCTGCAGATGAGA CAAGAACAATTATTTCTTTGGACACTTCACAAATGAATCGAATTCTCTGGGTTGATGAGAACAATTTGACAGCTCATGTAGAGGCTGGCA TAACAGGACAAGAGTTGGAAAGACAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGC GTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGA AGACTTATTCTGCCAAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGT CGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGG ACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGC AGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGG AGAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCG TCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGG TGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAG ATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGATCTGGGCTGCAGGAGCTGGGGCCA CCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTG GGGAAGGCTCCCACTGCAGCAGCTCGGGGGACCCCGCTGAGTACAACCTGCGCTCGCGCACCGTGCTGTGCGGGACCTGCGGGCAGCCTG CCGACAAGGCATCTGCCAGCGGCTCAGGAGCCCAGGTGGGCGGACCCATCTCCTCTGGCTCTTCTGCCTCCAGTGTCACGGTCACTCGCA GCTACCGCAGTGTGGGGGGCAGTGGGGGTGGCAGCTTCGGGGACAATCTGGTCACCCGCTCCTACCTCCTGGGCAACTCCAGCCCCCGAA CCCAGAGCCCCCAGAACTGCAGCATCATGTAATCTGGGACCTGCCAGGCAGGGGTGGGGGTGGAGGCTTCCTGCGTCCTCCTCACCTCAT GCCCACCCCCTGCCCTGCACGTCATGGGAGGGGGCTTGAAGCCAAAGAAAAATAACCCTTTGGTTTTTTTCTTCTGTATTTTTTTTTCTA AGAGAAGTTATTTTCTACAGTGGTTTTATACTGAAGGAAAAACACAAGCAAAAAAAAAAAAAAGCATCTATCTCATCTATCTCAATCCTA ATTTCTCCTCCCTTCCTTTTCCCTGCTTCCAGGAAACTCCACATCTGCCTTAAAACCAAAGAGGGCTTCCTCTAGAAGCCAAGGGAAAGG GGTGCTTTTATAGAGGCTAGCTTCTGCTTTTCTGCCCTGGCTGCTGCCCCCACCCCGGGGACCCTGTGACATGGTGCCTGAGAGGCAGGC ATAGAGGCTTCTCCGCCAGCCTCCTCTGGACGGCAGGCTCACTGCCAGGCCAGCCTCCGAGAGGGAGAGAGAGAGAGAGAGGACAGCTTG AGCCGGGCCCCTGGGCTTGGCCTGCTGTGATTCCACTACACCTGGCTGAGGTTCCTCTGCCTGCCCCGCCCCCAGTCCCCACCCCTGCCC CCAGCCCCGGGGTGAGTCCATTCTCCCAGGTACCAGCTGCGCTTGCTTTTCTGTATTTTATTTAGACAAGAGATGGGAATGAGGTGGGAG GTGGAAGAAGGGAGAAGAAAGGTGAGTTTGAGCTGCCTTCCCTAGCTTTAGACCCTGGGTGGGCTCTGTGCAGTCACTGGAGGTTGAAGC CAAGTGGGGTGCTGGGAGGAGGGAGAGGGAGGTCACTGGAAAGGGGAGAGCCTGCTGGCACCCACCGTGGAGGAGGAAGGCAAGAGGGGG TGGAGGGGTGTGGCAGTGGTTTTGGCAAACGCTAAAGAGCCCTTGCCTCCCCATTTCCCATCTGCACCCCTTCTCTCCTCCCCAAATCAA >2980_2980_1_AGPS-LMNA_AGPS_chr2_178310354_ENST00000264167_LMNA_chr1_156104595_ENST00000347559_length(amino acids)=737AA_BP=315 MVAPGAALSDLSPAPSGSGRQHKAVAMAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAA SAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSD TPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYG LMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVE QYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAE MRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTS GRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLR TALINSTGEGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYL -------------------------------------------------------------- >2980_2980_2_AGPS-LMNA_AGPS_chr2_178310354_ENST00000264167_LMNA_chr1_156104595_ENST00000361308_length(transcript)=2197nt_BP=1016nt GTGAAGCTCCAGACGCATGGCACCCGCCGCCAAGTCGCCGCGGTGGCTGCCGGGATGCGCCGCAGCGAATGGTCGCGCCGGGCGCCGCTC TGAGTGACCTTTCACCCGCGCCCAGCGGTTCCGGGCGGCAGCACAAGGCGGTAGCCATGGCGGAGGCGGCGGCTGCAGCGGGTGGGACTG GCTTGGGCGCGGGCGCGAGCTACGGGTCTGCAGCGGACCGGGACCGGGACCCGGACCCGGACCGCGCCGGGCGGAGGCTGCGGGTTCTCT CTGGCCATCTGCTGGGCCGGCCCCGGGAGGCTCTGAGTACCAATGAGTGCAAAGCGCGGAGAGCCGCGTCGGCGGCCACGGCAGCGCCCA CGGCCACTCCCGCCGCGCAGGAGTCGGGCACCATCCCAAAGAAGCGGCAAGAAGTTATGAAATGGAATGGATGGGGATATAATGATTCTA AATTCATCTTCAATAAGAAGGGCCAAATTGAATTGACTGGGAAAAGGTACCCTCTTAGTGGCATGGGTTTACCAACATTTAAAGAATGGA TCCAAAATACCCTTGGAGTAAATGTGGAGCATAAAACTACCTCTAAAGCATCCTTAAATCCTAGTGATACACCTCCTTCTGTTGTAAATG AAGATTTTCTTCATGACCTTAAAGAAACTAATATTTCATATTCACAAGAGGCAGATGATCGAGTATTTAGAGCTCATGGTCATTGTCTTC ATGAGATATTTTTGCTCAGGGAAGGAATGTTTGAGCGAATTCCTGATATAGTTTTATGGCCAACATGCCATGATGATGTAGTTAAGATTG TGAATCTAGCTTGCAAATATAATCTTTGTATCATACCAATTGGTGGAGGAACAAGTGTTTCATATGGCCTGATGTGTCCTGCAGATGAGA CAAGAACAATTATTTCTTTGGACACTTCACAAATGAATCGAATTCTCTGGGTTGATGAGAACAATTTGACAGCTCATGTAGAGGCTGGCA TAACAGGACAAGAGTTGGAAAGACAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGC GTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGA AGACTTATTCTGCCAAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGT CGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGG ACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGC AGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGG AGAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCG TCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGG TGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAG ATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGATCTGGGCTGCAGGAGCTGGGGCCA CCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTG GGGAAGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACC ACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTG >2980_2980_2_AGPS-LMNA_AGPS_chr2_178310354_ENST00000264167_LMNA_chr1_156104595_ENST00000361308_length(amino acids)=675AA_BP=315 MVAPGAALSDLSPAPSGSGRQHKAVAMAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAA SAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSD TPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYG LMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVE QYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAE MRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTS GRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLR -------------------------------------------------------------- >2980_2980_3_AGPS-LMNA_AGPS_chr2_178310354_ENST00000264167_LMNA_chr1_156104595_ENST00000368297_length(transcript)=2197nt_BP=1016nt GTGAAGCTCCAGACGCATGGCACCCGCCGCCAAGTCGCCGCGGTGGCTGCCGGGATGCGCCGCAGCGAATGGTCGCGCCGGGCGCCGCTC TGAGTGACCTTTCACCCGCGCCCAGCGGTTCCGGGCGGCAGCACAAGGCGGTAGCCATGGCGGAGGCGGCGGCTGCAGCGGGTGGGACTG GCTTGGGCGCGGGCGCGAGCTACGGGTCTGCAGCGGACCGGGACCGGGACCCGGACCCGGACCGCGCCGGGCGGAGGCTGCGGGTTCTCT CTGGCCATCTGCTGGGCCGGCCCCGGGAGGCTCTGAGTACCAATGAGTGCAAAGCGCGGAGAGCCGCGTCGGCGGCCACGGCAGCGCCCA CGGCCACTCCCGCCGCGCAGGAGTCGGGCACCATCCCAAAGAAGCGGCAAGAAGTTATGAAATGGAATGGATGGGGATATAATGATTCTA AATTCATCTTCAATAAGAAGGGCCAAATTGAATTGACTGGGAAAAGGTACCCTCTTAGTGGCATGGGTTTACCAACATTTAAAGAATGGA TCCAAAATACCCTTGGAGTAAATGTGGAGCATAAAACTACCTCTAAAGCATCCTTAAATCCTAGTGATACACCTCCTTCTGTTGTAAATG AAGATTTTCTTCATGACCTTAAAGAAACTAATATTTCATATTCACAAGAGGCAGATGATCGAGTATTTAGAGCTCATGGTCATTGTCTTC ATGAGATATTTTTGCTCAGGGAAGGAATGTTTGAGCGAATTCCTGATATAGTTTTATGGCCAACATGCCATGATGATGTAGTTAAGATTG TGAATCTAGCTTGCAAATATAATCTTTGTATCATACCAATTGGTGGAGGAACAAGTGTTTCATATGGCCTGATGTGTCCTGCAGATGAGA CAAGAACAATTATTTCTTTGGACACTTCACAAATGAATCGAATTCTCTGGGTTGATGAGAACAATTTGACAGCTCATGTAGAGGCTGGCA TAACAGGACAAGAGTTGGAAAGACAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGC GTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGA AGACTTATTCTGCCAAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGT CGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGG ACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGC AGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGG AGAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCG TCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGG TGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAG ATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGATCTGGGCTGCAGGAGCTGGGGCCA CCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTG GGGAAGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACC ACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTG >2980_2980_3_AGPS-LMNA_AGPS_chr2_178310354_ENST00000264167_LMNA_chr1_156104595_ENST00000368297_length(amino acids)=675AA_BP=315 MVAPGAALSDLSPAPSGSGRQHKAVAMAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAA SAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSD TPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYG LMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVE QYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAE MRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTS GRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLR -------------------------------------------------------------- >2980_2980_4_AGPS-LMNA_AGPS_chr2_178310354_ENST00000264167_LMNA_chr1_156104595_ENST00000368299_length(transcript)=2433nt_BP=1016nt GTGAAGCTCCAGACGCATGGCACCCGCCGCCAAGTCGCCGCGGTGGCTGCCGGGATGCGCCGCAGCGAATGGTCGCGCCGGGCGCCGCTC TGAGTGACCTTTCACCCGCGCCCAGCGGTTCCGGGCGGCAGCACAAGGCGGTAGCCATGGCGGAGGCGGCGGCTGCAGCGGGTGGGACTG GCTTGGGCGCGGGCGCGAGCTACGGGTCTGCAGCGGACCGGGACCGGGACCCGGACCCGGACCGCGCCGGGCGGAGGCTGCGGGTTCTCT CTGGCCATCTGCTGGGCCGGCCCCGGGAGGCTCTGAGTACCAATGAGTGCAAAGCGCGGAGAGCCGCGTCGGCGGCCACGGCAGCGCCCA CGGCCACTCCCGCCGCGCAGGAGTCGGGCACCATCCCAAAGAAGCGGCAAGAAGTTATGAAATGGAATGGATGGGGATATAATGATTCTA AATTCATCTTCAATAAGAAGGGCCAAATTGAATTGACTGGGAAAAGGTACCCTCTTAGTGGCATGGGTTTACCAACATTTAAAGAATGGA TCCAAAATACCCTTGGAGTAAATGTGGAGCATAAAACTACCTCTAAAGCATCCTTAAATCCTAGTGATACACCTCCTTCTGTTGTAAATG AAGATTTTCTTCATGACCTTAAAGAAACTAATATTTCATATTCACAAGAGGCAGATGATCGAGTATTTAGAGCTCATGGTCATTGTCTTC ATGAGATATTTTTGCTCAGGGAAGGAATGTTTGAGCGAATTCCTGATATAGTTTTATGGCCAACATGCCATGATGATGTAGTTAAGATTG TGAATCTAGCTTGCAAATATAATCTTTGTATCATACCAATTGGTGGAGGAACAAGTGTTTCATATGGCCTGATGTGTCCTGCAGATGAGA CAAGAACAATTATTTCTTTGGACACTTCACAAATGAATCGAATTCTCTGGGTTGATGAGAACAATTTGACAGCTCATGTAGAGGCTGGCA TAACAGGACAAGAGTTGGAAAGACAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGC GTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGA AGACTTATTCTGCCAAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGT CGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGG ACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGC AGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGG AGAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCG TCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGG TGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAG ATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGATCTGGGCTGCAGGAGCTGGGGCCA CCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTG GGGAAGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACC ACCACGGCTCCCACTGCAGCAGCTCGGGGGACCCCGCTGAGTACAACCTGCGCTCGCGCACCGTGCTGTGCGGGACCTGCGGGCAGCCTG CCGACAAGGCATCTGCCAGCGGCTCAGGAGCCCAGAGCCCCCAGAACTGCAGCATCATGTAATCTGGGACCTGCCAGGCAGGGGTGGGGG TGGAGGCTTCCTGCGTCCTCCTCACCTCATGCCCACCCCCTGCCCTGCACGTCATGGGAGGGGGCTTGAAGCCAAAGAAAAATAACCCTT TGGTTTTTTTCTTCTGTATTTTTTTTTCTAAGAGAAGTTATTTTCTACAGTGGTTTTATACTGAAGGAAAAACACAAGCAAAAAAAAAAA >2980_2980_4_AGPS-LMNA_AGPS_chr2_178310354_ENST00000264167_LMNA_chr1_156104595_ENST00000368299_length(amino acids)=717AA_BP=315 MVAPGAALSDLSPAPSGSGRQHKAVAMAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAA SAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSD TPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYG LMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVE QYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAE MRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTS GRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLR -------------------------------------------------------------- >2980_2980_5_AGPS-LMNA_AGPS_chr2_178310354_ENST00000264167_LMNA_chr1_156104595_ENST00000368300_length(transcript)=3355nt_BP=1016nt GTGAAGCTCCAGACGCATGGCACCCGCCGCCAAGTCGCCGCGGTGGCTGCCGGGATGCGCCGCAGCGAATGGTCGCGCCGGGCGCCGCTC TGAGTGACCTTTCACCCGCGCCCAGCGGTTCCGGGCGGCAGCACAAGGCGGTAGCCATGGCGGAGGCGGCGGCTGCAGCGGGTGGGACTG GCTTGGGCGCGGGCGCGAGCTACGGGTCTGCAGCGGACCGGGACCGGGACCCGGACCCGGACCGCGCCGGGCGGAGGCTGCGGGTTCTCT CTGGCCATCTGCTGGGCCGGCCCCGGGAGGCTCTGAGTACCAATGAGTGCAAAGCGCGGAGAGCCGCGTCGGCGGCCACGGCAGCGCCCA CGGCCACTCCCGCCGCGCAGGAGTCGGGCACCATCCCAAAGAAGCGGCAAGAAGTTATGAAATGGAATGGATGGGGATATAATGATTCTA AATTCATCTTCAATAAGAAGGGCCAAATTGAATTGACTGGGAAAAGGTACCCTCTTAGTGGCATGGGTTTACCAACATTTAAAGAATGGA TCCAAAATACCCTTGGAGTAAATGTGGAGCATAAAACTACCTCTAAAGCATCCTTAAATCCTAGTGATACACCTCCTTCTGTTGTAAATG AAGATTTTCTTCATGACCTTAAAGAAACTAATATTTCATATTCACAAGAGGCAGATGATCGAGTATTTAGAGCTCATGGTCATTGTCTTC ATGAGATATTTTTGCTCAGGGAAGGAATGTTTGAGCGAATTCCTGATATAGTTTTATGGCCAACATGCCATGATGATGTAGTTAAGATTG TGAATCTAGCTTGCAAATATAATCTTTGTATCATACCAATTGGTGGAGGAACAAGTGTTTCATATGGCCTGATGTGTCCTGCAGATGAGA CAAGAACAATTATTTCTTTGGACACTTCACAAATGAATCGAATTCTCTGGGTTGATGAGAACAATTTGACAGCTCATGTAGAGGCTGGCA TAACAGGACAAGAGTTGGAAAGACAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGC GTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGA AGACTTATTCTGCCAAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGT CGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGG ACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGC AGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGG AGAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCG TCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGG TGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAG ATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGATCTGGGCTGCAGGAGCTGGGGCCA CCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTG GGGAAGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACC ACCACGGCTCCCACTGCAGCAGCTCGGGGGACCCCGCTGAGTACAACCTGCGCTCGCGCACCGTGCTGTGCGGGACCTGCGGGCAGCCTG CCGACAAGGCATCTGCCAGCGGCTCAGGAGCCCAGGTGGGCGGACCCATCTCCTCTGGCTCTTCTGCCTCCAGTGTCACGGTCACTCGCA GCTACCGCAGTGTGGGGGGCAGTGGGGGTGGCAGCTTCGGGGACAATCTGGTCACCCGCTCCTACCTCCTGGGCAACTCCAGCCCCCGAA CCCAGAGCCCCCAGAACTGCAGCATCATGTAATCTGGGACCTGCCAGGCAGGGGTGGGGGTGGAGGCTTCCTGCGTCCTCCTCACCTCAT GCCCACCCCCTGCCCTGCACGTCATGGGAGGGGGCTTGAAGCCAAAGAAAAATAACCCTTTGGTTTTTTTCTTCTGTATTTTTTTTTCTA AGAGAAGTTATTTTCTACAGTGGTTTTATACTGAAGGAAAAACACAAGCAAAAAAAAAAAAAAGCATCTATCTCATCTATCTCAATCCTA ATTTCTCCTCCCTTCCTTTTCCCTGCTTCCAGGAAACTCCACATCTGCCTTAAAACCAAAGAGGGCTTCCTCTAGAAGCCAAGGGAAAGG GGTGCTTTTATAGAGGCTAGCTTCTGCTTTTCTGCCCTGGCTGCTGCCCCCACCCCGGGGACCCTGTGACATGGTGCCTGAGAGGCAGGC ATAGAGGCTTCTCCGCCAGCCTCCTCTGGACGGCAGGCTCACTGCCAGGCCAGCCTCCGAGAGGGAGAGAGAGAGAGAGAGGACAGCTTG AGCCGGGCCCCTGGGCTTGGCCTGCTGTGATTCCACTACACCTGGCTGAGGTTCCTCTGCCTGCCCCGCCCCCAGTCCCCACCCCTGCCC CCAGCCCCGGGGTGAGTCCATTCTCCCAGGTACCAGCTGCGCTTGCTTTTCTGTATTTTATTTAGACAAGAGATGGGAATGAGGTGGGAG GTGGAAGAAGGGAGAAGAAAGGTGAGTTTGAGCTGCCTTCCCTAGCTTTAGACCCTGGGTGGGCTCTGTGCAGTCACTGGAGGTTGAAGC CAAGTGGGGTGCTGGGAGGAGGGAGAGGGAGGTCACTGGAAAGGGGAGAGCCTGCTGGCACCCACCGTGGAGGAGGAAGGCAAGAGGGGG TGGAGGGGTGTGGCAGTGGTTTTGGCAAACGCTAAAGAGCCCTTGCCTCCCCATTTCCCATCTGCACCCCTTCTCTCCTCCCCAAATCAA >2980_2980_5_AGPS-LMNA_AGPS_chr2_178310354_ENST00000264167_LMNA_chr1_156104595_ENST00000368300_length(amino acids)=767AA_BP=315 MVAPGAALSDLSPAPSGSGRQHKAVAMAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAA SAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSD TPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYG LMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVE QYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAE MRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTS GRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLR TALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSA -------------------------------------------------------------- >2980_2980_6_AGPS-LMNA_AGPS_chr2_178310354_ENST00000264167_LMNA_chr1_156104595_ENST00000368301_length(transcript)=2197nt_BP=1016nt GTGAAGCTCCAGACGCATGGCACCCGCCGCCAAGTCGCCGCGGTGGCTGCCGGGATGCGCCGCAGCGAATGGTCGCGCCGGGCGCCGCTC TGAGTGACCTTTCACCCGCGCCCAGCGGTTCCGGGCGGCAGCACAAGGCGGTAGCCATGGCGGAGGCGGCGGCTGCAGCGGGTGGGACTG GCTTGGGCGCGGGCGCGAGCTACGGGTCTGCAGCGGACCGGGACCGGGACCCGGACCCGGACCGCGCCGGGCGGAGGCTGCGGGTTCTCT CTGGCCATCTGCTGGGCCGGCCCCGGGAGGCTCTGAGTACCAATGAGTGCAAAGCGCGGAGAGCCGCGTCGGCGGCCACGGCAGCGCCCA CGGCCACTCCCGCCGCGCAGGAGTCGGGCACCATCCCAAAGAAGCGGCAAGAAGTTATGAAATGGAATGGATGGGGATATAATGATTCTA AATTCATCTTCAATAAGAAGGGCCAAATTGAATTGACTGGGAAAAGGTACCCTCTTAGTGGCATGGGTTTACCAACATTTAAAGAATGGA TCCAAAATACCCTTGGAGTAAATGTGGAGCATAAAACTACCTCTAAAGCATCCTTAAATCCTAGTGATACACCTCCTTCTGTTGTAAATG AAGATTTTCTTCATGACCTTAAAGAAACTAATATTTCATATTCACAAGAGGCAGATGATCGAGTATTTAGAGCTCATGGTCATTGTCTTC ATGAGATATTTTTGCTCAGGGAAGGAATGTTTGAGCGAATTCCTGATATAGTTTTATGGCCAACATGCCATGATGATGTAGTTAAGATTG TGAATCTAGCTTGCAAATATAATCTTTGTATCATACCAATTGGTGGAGGAACAAGTGTTTCATATGGCCTGATGTGTCCTGCAGATGAGA CAAGAACAATTATTTCTTTGGACACTTCACAAATGAATCGAATTCTCTGGGTTGATGAGAACAATTTGACAGCTCATGTAGAGGCTGGCA TAACAGGACAAGAGTTGGAAAGACAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGC GTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGA AGACTTATTCTGCCAAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGT CGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGG ACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGC AGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGG AGAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCG TCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGG TGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAG ATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGATCTGGGCTGCAGGAGCTGGGGCCA CCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTG GGGAAGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACC ACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTG >2980_2980_6_AGPS-LMNA_AGPS_chr2_178310354_ENST00000264167_LMNA_chr1_156104595_ENST00000368301_length(amino acids)=675AA_BP=315 MVAPGAALSDLSPAPSGSGRQHKAVAMAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAA SAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSD TPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYG LMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVE QYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAE MRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTS GRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLR -------------------------------------------------------------- >2980_2980_7_AGPS-LMNA_AGPS_chr2_178310354_ENST00000264167_LMNA_chr1_156104595_ENST00000392353_length(transcript)=2197nt_BP=1016nt GTGAAGCTCCAGACGCATGGCACCCGCCGCCAAGTCGCCGCGGTGGCTGCCGGGATGCGCCGCAGCGAATGGTCGCGCCGGGCGCCGCTC TGAGTGACCTTTCACCCGCGCCCAGCGGTTCCGGGCGGCAGCACAAGGCGGTAGCCATGGCGGAGGCGGCGGCTGCAGCGGGTGGGACTG GCTTGGGCGCGGGCGCGAGCTACGGGTCTGCAGCGGACCGGGACCGGGACCCGGACCCGGACCGCGCCGGGCGGAGGCTGCGGGTTCTCT CTGGCCATCTGCTGGGCCGGCCCCGGGAGGCTCTGAGTACCAATGAGTGCAAAGCGCGGAGAGCCGCGTCGGCGGCCACGGCAGCGCCCA CGGCCACTCCCGCCGCGCAGGAGTCGGGCACCATCCCAAAGAAGCGGCAAGAAGTTATGAAATGGAATGGATGGGGATATAATGATTCTA AATTCATCTTCAATAAGAAGGGCCAAATTGAATTGACTGGGAAAAGGTACCCTCTTAGTGGCATGGGTTTACCAACATTTAAAGAATGGA TCCAAAATACCCTTGGAGTAAATGTGGAGCATAAAACTACCTCTAAAGCATCCTTAAATCCTAGTGATACACCTCCTTCTGTTGTAAATG AAGATTTTCTTCATGACCTTAAAGAAACTAATATTTCATATTCACAAGAGGCAGATGATCGAGTATTTAGAGCTCATGGTCATTGTCTTC ATGAGATATTTTTGCTCAGGGAAGGAATGTTTGAGCGAATTCCTGATATAGTTTTATGGCCAACATGCCATGATGATGTAGTTAAGATTG TGAATCTAGCTTGCAAATATAATCTTTGTATCATACCAATTGGTGGAGGAACAAGTGTTTCATATGGCCTGATGTGTCCTGCAGATGAGA CAAGAACAATTATTTCTTTGGACACTTCACAAATGAATCGAATTCTCTGGGTTGATGAGAACAATTTGACAGCTCATGTAGAGGCTGGCA TAACAGGACAAGAGTTGGAAAGACAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGC GTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGA AGACTTATTCTGCCAAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGT CGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGG ACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGC AGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGG AGAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCG TCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGG TGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAG ATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGATCTGGGCTGCAGGAGCTGGGGCCA CCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTG GGGAAGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACC ACCACGTGAGTGGTAGCCGCCGCTGAGGCCGAGCCTGCACTGGGGCCACCCAGCCAGGCCTGGGGGCAGCCTCTCCCCAGCCTCCCCGTG >2980_2980_7_AGPS-LMNA_AGPS_chr2_178310354_ENST00000264167_LMNA_chr1_156104595_ENST00000392353_length(amino acids)=675AA_BP=315 MVAPGAALSDLSPAPSGSGRQHKAVAMAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAA SAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSD TPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYG LMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVE QYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAE MRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTS GRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLR -------------------------------------------------------------- >2980_2980_8_AGPS-LMNA_AGPS_chr2_178310354_ENST00000264167_LMNA_chr1_156104595_ENST00000448611_length(transcript)=2612nt_BP=1016nt GTGAAGCTCCAGACGCATGGCACCCGCCGCCAAGTCGCCGCGGTGGCTGCCGGGATGCGCCGCAGCGAATGGTCGCGCCGGGCGCCGCTC TGAGTGACCTTTCACCCGCGCCCAGCGGTTCCGGGCGGCAGCACAAGGCGGTAGCCATGGCGGAGGCGGCGGCTGCAGCGGGTGGGACTG GCTTGGGCGCGGGCGCGAGCTACGGGTCTGCAGCGGACCGGGACCGGGACCCGGACCCGGACCGCGCCGGGCGGAGGCTGCGGGTTCTCT CTGGCCATCTGCTGGGCCGGCCCCGGGAGGCTCTGAGTACCAATGAGTGCAAAGCGCGGAGAGCCGCGTCGGCGGCCACGGCAGCGCCCA CGGCCACTCCCGCCGCGCAGGAGTCGGGCACCATCCCAAAGAAGCGGCAAGAAGTTATGAAATGGAATGGATGGGGATATAATGATTCTA AATTCATCTTCAATAAGAAGGGCCAAATTGAATTGACTGGGAAAAGGTACCCTCTTAGTGGCATGGGTTTACCAACATTTAAAGAATGGA TCCAAAATACCCTTGGAGTAAATGTGGAGCATAAAACTACCTCTAAAGCATCCTTAAATCCTAGTGATACACCTCCTTCTGTTGTAAATG AAGATTTTCTTCATGACCTTAAAGAAACTAATATTTCATATTCACAAGAGGCAGATGATCGAGTATTTAGAGCTCATGGTCATTGTCTTC ATGAGATATTTTTGCTCAGGGAAGGAATGTTTGAGCGAATTCCTGATATAGTTTTATGGCCAACATGCCATGATGATGTAGTTAAGATTG TGAATCTAGCTTGCAAATATAATCTTTGTATCATACCAATTGGTGGAGGAACAAGTGTTTCATATGGCCTGATGTGTCCTGCAGATGAGA CAAGAACAATTATTTCTTTGGACACTTCACAAATGAATCGAATTCTCTGGGTTGATGAGAACAATTTGACAGCTCATGTAGAGGCTGGCA TAACAGGACAAGAGTTGGAAAGACAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGC GTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGA AGACTTATTCTGCCAAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGT CGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGG ACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGC AGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGG AGAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCG TCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGG TGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAG ATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGATCTGGGCTGCAGGAGCTGGGGCCA CCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTG GGGAAGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACC ACCACGGCTCCCACTGCAGCAGCTCGGGGGACCCCGCTGAGTACAACCTGCGCTCGCGCACCGTGCTGTGCGGGACCTGCGGGCAGCCTG CCGACAAGGCATCTGCCAGCGGCTCAGGAGCCCAGGTGGGCGGACCCATCTCCTCTGGCTCTTCTGCCTCCAGTGTCACGGTCACTCGCA GCTACCGCAGTGTGGGGGGCAGTGGGGGTGGCAGCTTCGGGGACAATCTGGTCACCCGCTCCTACCTCCTGGGCAACTCCAGCCCCCGAA CCCAGAGCCCCCAGAACTGCAGCATCATACAAGAGATGGGAATGAGGTGGGAGGTGGAAGAAGGGAGAAGAAAGGTGAGTTTGAGCTGCC TTCCCTAGCTTTAGACCCTGGGTGGGCTCTGTGCAGTCACTGGAGGTTGAAGCCAAGTGGGGTGCTGGGAGGAGGGAGAGGGAGGTCACT GGAAAGGGGAGAGCCTGCTGGCACCCACCGTGGAGGAGGAAGGCAAGAGGGGGTGGAGGGGTGTGGCAGTGGTTTTGGCAAACGCTAAAG >2980_2980_8_AGPS-LMNA_AGPS_chr2_178310354_ENST00000264167_LMNA_chr1_156104595_ENST00000448611_length(amino acids)=789AA_BP=315 MVAPGAALSDLSPAPSGSGRQHKAVAMAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAA SAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSD TPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYG LMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVE QYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAE MRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTS GRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLR TALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSA -------------------------------------------------------------- >2980_2980_9_AGPS-LMNA_AGPS_chr2_178310354_ENST00000264167_LMNA_chr1_156104595_ENST00000473598_length(transcript)=2569nt_BP=1016nt GTGAAGCTCCAGACGCATGGCACCCGCCGCCAAGTCGCCGCGGTGGCTGCCGGGATGCGCCGCAGCGAATGGTCGCGCCGGGCGCCGCTC TGAGTGACCTTTCACCCGCGCCCAGCGGTTCCGGGCGGCAGCACAAGGCGGTAGCCATGGCGGAGGCGGCGGCTGCAGCGGGTGGGACTG GCTTGGGCGCGGGCGCGAGCTACGGGTCTGCAGCGGACCGGGACCGGGACCCGGACCCGGACCGCGCCGGGCGGAGGCTGCGGGTTCTCT CTGGCCATCTGCTGGGCCGGCCCCGGGAGGCTCTGAGTACCAATGAGTGCAAAGCGCGGAGAGCCGCGTCGGCGGCCACGGCAGCGCCCA CGGCCACTCCCGCCGCGCAGGAGTCGGGCACCATCCCAAAGAAGCGGCAAGAAGTTATGAAATGGAATGGATGGGGATATAATGATTCTA AATTCATCTTCAATAAGAAGGGCCAAATTGAATTGACTGGGAAAAGGTACCCTCTTAGTGGCATGGGTTTACCAACATTTAAAGAATGGA TCCAAAATACCCTTGGAGTAAATGTGGAGCATAAAACTACCTCTAAAGCATCCTTAAATCCTAGTGATACACCTCCTTCTGTTGTAAATG AAGATTTTCTTCATGACCTTAAAGAAACTAATATTTCATATTCACAAGAGGCAGATGATCGAGTATTTAGAGCTCATGGTCATTGTCTTC ATGAGATATTTTTGCTCAGGGAAGGAATGTTTGAGCGAATTCCTGATATAGTTTTATGGCCAACATGCCATGATGATGTAGTTAAGATTG TGAATCTAGCTTGCAAATATAATCTTTGTATCATACCAATTGGTGGAGGAACAAGTGTTTCATATGGCCTGATGTGTCCTGCAGATGAGA CAAGAACAATTATTTCTTTGGACACTTCACAAATGAATCGAATTCTCTGGGTTGATGAGAACAATTTGACAGCTCATGTAGAGGCTGGCA TAACAGGACAAGAGTTGGAAAGACAGGAGCTGCGTGAGACCAAGCGCCGTCATGAGACCCGACTGGTGGAGATTGACAATGGGAAGCAGC GTGAGTTTGAGAGCCGGCTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGACCAGGTGGAGCAGTATAAGAAGGAGCTGGAGA AGACTTATTCTGCCAAGCTGGACAATGCCAGGCAGTCTGCTGAGAGGAACAGCAACCTGGTGGGGGCTGCCCACGAGGAGCTGCAGCAGT CGCGCATCCGCATCGACAGCCTCTCTGCCCAGCTCAGCCAGCTCCAGAAGCAGCTGGCAGCCAAGGAGGCGAAGCTTCGAGACCTGGAGG ACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGGCGGAAAAGGAGCGGGAGATGGCCGAGATGCGGGCAAGGATGCAGCAGC AGCTGGACGAGTACCAGGAGCTTCTGGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACCGCAAGCTCTTGGAGGGCGAGGAGG AGAGGCTACGCCTGTCCCCCAGCCCTACCTCGCAGCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCG TCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCGCAGCAGCTTCTCACAGCACGCACGCACTAGCGGGCGCGTGGCCGTGGAGGAGG TGGATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAATGAGGACCAGTCCATGGGCAATTGGCAGATCAAGCGCCAGAATGGAG ATGATCCCTTGCTGACTTACCGGTTCCCACCAAAGTTCACCCTGAAGGCTGGGCAGGTGGTGACGATCTGGGCTGCAGGAGCTGGGGCCA CCCACAGCCCCCCTACCGACCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCATCAACTCCACTG GGGAAGAAGTGGCCATGCGCAAGCTGGTGCGCTCAGTGACTGTGGTTGAGGACGACGAGGATGAGGATGGAGATGACCTGCTCCATCACC ACCACGGCTCCCACTGCAGCAGCTCGGGGGACCCCGCTGAGTACAACCTGCGCTCGCGCACCGTGCTGTGCGGGACCTGCGGGCAGCCTG CCGACAAGGCATCTGCCAGCGGCTCAGGAGCCCAGGTGGGCGGACCCATCTCCTCTGGCTCTTCTGCCTCCAGTGTCACGGTCACTCGCA GCTACCGCAGTGTGGGGGGCAGTGGGGGTGGCAGCTTCGGGGACAATCTGGTCACCCGCTCCTACCTCCTGGGCAACTCCAGCCCCCGAA CCCAGAGCCCCCAGAACTGCAGCATCATGTAATCTGGGACCTGCCAGGCAGGGGTGGGGGTGGAGGCTTCCTGCGTCCTCCTCACCTCAT GCCCACCCCCTGCCCTGCACGTCATGGGAGGGGGCTTGAAGCCAAAGAAAAATAACCCTTTGGTTTTTTTCTTCTGTATTTTTTTTTCTA >2980_2980_9_AGPS-LMNA_AGPS_chr2_178310354_ENST00000264167_LMNA_chr1_156104595_ENST00000473598_length(amino acids)=767AA_BP=315 MVAPGAALSDLSPAPSGSGRQHKAVAMAEAAAAAGGTGLGAGASYGSAADRDRDPDPDRAGRRLRVLSGHLLGRPREALSTNECKARRAA SAATAAPTATPAAQESGTIPKKRQEVMKWNGWGYNDSKFIFNKKGQIELTGKRYPLSGMGLPTFKEWIQNTLGVNVEHKTTSKASLNPSD TPPSVVNEDFLHDLKETNISYSQEADDRVFRAHGHCLHEIFLLREGMFERIPDIVLWPTCHDDVVKIVNLACKYNLCIIPIGGGTSVSYG LMCPADETRTIISLDTSQMNRILWVDENNLTAHVEAGITGQELERQELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVE QYKKELEKTYSAKLDNARQSAERNSNLVGAAHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAE MRARMQQQLDEYQELLDIKLALDMEIHAYRKLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTS GRVAVEEVDEEGKFVRLRNKSNEDQSMGNWQIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLR TALINSTGEEVAMRKLVRSVTVVEDDEDEDGDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSA -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for AGPS-LMNA |
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 |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000347559 | 2 | 11 | 1_130 | 213.0 | 635.0 | MLIP | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000361308 | 2 | 10 | 1_130 | 213.0 | 573.0 | MLIP | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368300 | 2 | 12 | 1_130 | 213.0 | 665.0 | MLIP | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000368301 | 5 | 13 | 1_130 | 213.0 | 573.0 | MLIP | |
Tgene | LMNA | chr2:178310354 | chr1:156104595 | ENST00000448611 | 2 | 13 | 1_130 | 101.0 | 575.0 | MLIP |
- 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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Related Drugs for AGPS-LMNA |
Drugs targeting genes involved in this fusion gene. (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 AGPS-LMNA |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | AGPS | C0282529 | Chondrodysplasia Punctata, Rhizomelic | 11 | CLINGEN |
Hgene | AGPS | C1838612 | Rhizomelic chondrodysplasia punctata, type 3 | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
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 |