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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:SLC25A44-LMNA (FusionGDB2 ID:82131) |
Fusion Gene Summary for SLC25A44-LMNA |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SLC25A44-LMNA | Fusion gene ID: 82131 | Hgene | Tgene | Gene symbol | SLC25A44 | LMNA | Gene ID | 9673 | 4000 |
| Gene name | solute carrier family 25 member 44 | lamin A/C | |
| Synonyms | - | CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1 | |
| Cytomap | 1q22 | 1q22 | |
| Type of gene | protein-coding | protein-coding | |
| Description | solute carrier family 25 member 44 | 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 | . | P02545 | |
| Ensembl transtripts involved in fusion gene | ENST00000359511, ENST00000423538, ENST00000469537, | ENST00000368301, ENST00000361308, ENST00000347559, ENST00000368300, ENST00000368299, ENST00000448611, ENST00000368297, ENST00000473598, ENST00000392353, ENST00000496738, | |
| Fusion gene scores | * DoF score | 10 X 6 X 6=360 | 13 X 16 X 6=1248 |
| # samples | 10 | 16 | |
| ** MAII score | log2(10/360*10)=-1.84799690655495 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: SLC25A44 [Title/Abstract] AND LMNA [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | SLC25A44(156164038)-LMNA(156100406), # 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) |
| 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 |
| Tgene | LMNA | GO:0090343 | positive regulation of cell aging | 20458013 |
| Fusion gene breakpoints across SLC25A44 (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 from two resources (ChiTars 5.0 and ChimerDB 4.0) * 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 |
| ChiTaRS5.0 | N/A | BG339598 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
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Fusion Gene ORF analysis for SLC25A44-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 |
| 5UTR-3CDS | ENST00000359511 | ENST00000368301 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-3CDS | ENST00000359511 | ENST00000361308 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-3CDS | ENST00000359511 | ENST00000347559 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-3CDS | ENST00000359511 | ENST00000368300 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-3CDS | ENST00000359511 | ENST00000368299 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-3CDS | ENST00000359511 | ENST00000448611 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-3CDS | ENST00000359511 | ENST00000368297 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-3CDS | ENST00000359511 | ENST00000473598 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-3CDS | ENST00000359511 | ENST00000392353 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-intron | ENST00000359511 | ENST00000496738 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-3CDS | ENST00000423538 | ENST00000368301 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-3CDS | ENST00000423538 | ENST00000361308 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-3CDS | ENST00000423538 | ENST00000347559 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-3CDS | ENST00000423538 | ENST00000368300 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-3CDS | ENST00000423538 | ENST00000368299 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-3CDS | ENST00000423538 | ENST00000448611 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-3CDS | ENST00000423538 | ENST00000368297 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-3CDS | ENST00000423538 | ENST00000473598 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-3CDS | ENST00000423538 | ENST00000392353 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 5UTR-intron | ENST00000423538 | ENST00000496738 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| intron-3CDS | ENST00000469537 | ENST00000368301 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| intron-3CDS | ENST00000469537 | ENST00000361308 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| intron-3CDS | ENST00000469537 | ENST00000347559 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| intron-3CDS | ENST00000469537 | ENST00000368300 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| intron-3CDS | ENST00000469537 | ENST00000368299 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| intron-3CDS | ENST00000469537 | ENST00000448611 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| intron-3CDS | ENST00000469537 | ENST00000368297 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| intron-3CDS | ENST00000469537 | ENST00000473598 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| intron-3CDS | ENST00000469537 | ENST00000392353 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| intron-intron | ENST00000469537 | ENST00000496738 | SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100406 | + |
| 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) |
| 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 |
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Fusion Genomic Features for SLC25A44-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) |
| SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100407 | + | 8.66E-09 | 1 |
| SLC25A44 | chr1 | 156164038 | + | LMNA | chr1 | 156100407 | + | 8.66E-09 | 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 SLC25A44-LMNA |
| Go to FGviewer for the breakpoints of :-: - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| . | LMNA |
| FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes. | FUNCTION: Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Recruited by DNA repair proteins XRCC4 and IFFO1 to the DNA double-strand breaks (DSBs) to prevent chromosome translocation by immobilizing broken DNA ends (PubMed:31548606). Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation (PubMed:10080180, PubMed:22431096, PubMed:10814726, PubMed:11799477, PubMed:18551513). Required for osteoblastogenesis and bone formation (PubMed:12075506, PubMed:15317753, PubMed:18611980). Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone (PubMed:10587585). Required for cardiac homeostasis (PubMed:10580070, PubMed:12927431, PubMed:18611980, PubMed:23666920). {ECO:0000269|PubMed:10080180, ECO:0000269|PubMed:10580070, ECO:0000269|PubMed:10587585, ECO:0000269|PubMed:10814726, ECO:0000269|PubMed:11799477, ECO:0000269|PubMed:12075506, ECO:0000269|PubMed:12927431, ECO:0000269|PubMed:15317753, ECO:0000269|PubMed:18551513, ECO:0000269|PubMed:18611980, ECO:0000269|PubMed:22431096, ECO:0000269|PubMed:23666920, ECO:0000269|PubMed:31548606}.; FUNCTION: Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA damage in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence. |
| 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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Fusion Gene Sequence for SLC25A44-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. |
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Fusion Gene PPI Analysis for SLC25A44-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 |
| - 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 SLC25A44-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 SLC25A44-LMNA |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | LMNA | C1449563 | Cardiomyopathy, Familial Idiopathic | 24 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | LMNA | C1720860 | Familial Partial Lipodystrophy, Type 2 | 19 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | LMNA | C0033300 | Progeria | 16 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | LMNA | C0410190 | Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder) | 10 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | LMNA | C0432291 | Mandibuloacral dysostosis | 9 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | LMNA | C1720859 | Familial Partial Lipodystrophy, Type 1 | 6 | CTD_human;ORPHANET |
| Tgene | LMNA | C0271694 | Familial partial lipodystrophy | 5 | CTD_human;GENOMICS_ENGLAND |
| Tgene | LMNA | C0406585 | Lethal tight skin contracture syndrome (disorder) | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Tgene | LMNA | C0796031 | Malouf syndrome | 5 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | LMNA | C0007193 | Cardiomyopathy, Dilated | 4 | CTD_human |
| Tgene | LMNA | C1720861 | Familial Partial Lipodystrophy, Type 3 | 4 | CTD_human |
| Tgene | LMNA | C2750035 | Emery-Dreifuss Muscular Dystrophy 3 | 4 | GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | LMNA | C2750785 | MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED (disorder) | 4 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT |
| Tgene | LMNA | C0410189 | Muscular Dystrophy, Emery-Dreifuss | 3 | CTD_human |
| Tgene | LMNA | C0686353 | Muscular Dystrophies, Limb-Girdle | 3 | CTD_human;GENOMICS_ENGLAND |
| Tgene | LMNA | C0751337 | X-Linked Emery-Dreifuss Muscular Dystrophy | 3 | CTD_human |
| Tgene | LMNA | C1450051 | Autosomal Recessive Emery-Dreifuss Muscular Dystrophy | 3 | CTD_human;ORPHANET |
| Tgene | LMNA | C1854154 | Charcot-Marie-Tooth disease, Type 2B1 | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT |
| Tgene | LMNA | C1857829 | Heart-hand syndrome, Slovenian type | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
| Tgene | LMNA | C1832931 | ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2 | 2 | ORPHANET |
| Tgene | LMNA | C4275075 | Atypical Werner syndrome | 2 | ORPHANET |
| Tgene | LMNA | C0004245 | Atrioventricular Block | 1 | CTD_human |
| Tgene | LMNA | C0004331 | Auriculo-Ventricular Dissociation | 1 | CTD_human |
| Tgene | LMNA | C0011644 | Scleroderma | 1 | CTD_human |
| Tgene | LMNA | C0016508 | Congenital Foot Deformity | 1 | CTD_human |
| Tgene | LMNA | C0017668 | Focal glomerulosclerosis | 1 | GENOMICS_ENGLAND |
| 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 |
| 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 |
| Tgene | LMNA | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| Tgene | LMNA | C0263409 | Linear Scleroderma | 1 | CTD_human |
| Tgene | LMNA | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
| Tgene | LMNA | C0546264 | Congenital Fiber Type Disproportion | 1 | GENOMICS_ENGLAND |
| Tgene | LMNA | C0796083 | Najjar syndrome | 1 | ORPHANET |
| Tgene | LMNA | C1136321 | HIV-Associated Lipodystrophy Syndrome | 1 | CTD_human |
| Tgene | LMNA | C1136382 | Sclerocystic Ovaries | 1 | CTD_human |
| Tgene | LMNA | C1527383 | Morphea | 1 | CTD_human |
| Tgene | LMNA | C1720824 | Sudden Cardiac Arrest | 1 | CTD_human |
| Tgene | LMNA | C4049702 | Focal Segmental Glomerulosclerosis, Not Otherwise Specified | 1 | GENOMICS_ENGLAND |
| Tgene | LMNA | C4750858 | LMNA-related cardiocutaneous progeria syndrome | 1 | ORPHANET |
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