LMNA
Name
lamin A/C
Synonyms
IDC, CDCD1, CMD1A, HGPS, PRO1, LMNC, LGMD1B, LMN1, FPL, LMNL1, LDP1, FPLD2, LFP, CMT2B1, FPLD, EMD2, CDDC [provided by Ensembl, GRCh37]
Location
chr1:156,052,364-156,109,880 (forward strand)
Summary
The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome. [provided by RefSeq, Apr 2012]
Biotype
Protein coding
Ensembl gene ID
NCBI gene ID
Search for articles
Differential expression
Differential gene expression across cell types as calculated by the DESeq package (version 1.6.3). Cells are sorted based on median gene expression from highest to lowest. Squares in the upper diagonal matrix indicate results from pair-wise comparisons of two cell types on the x- and y-axis. Changing the tab on top will switch from log2 fold change to P values, and mousing over the squares will display those values. Adjusting the threshold slider will change the color of the square to indicate if it is above or below the threshold.
Differential gene expression across cell types as calculated by the DESeq package (version 1.6.3). Cells are sorted based on median gene expression from highest to lowest. Squares in the upper diagonal matrix indicate results from pair-wise comparisons of two cell types on the x- and y-axis. Changing the tab on top will switch from log2 fold change to P values, and mousing over the squares will display those values. Adjusting the threshold slider will change the color of the square to indicate if it is above or below the threshold.
DICE QTLs
Discovery of genetic variants directly associated with the gene expression level (SNP located within +/- 1 Mb of the TSS); 'expression quantitative trait loci' (eQTL). Hover over the table headers for a description of several of the fields.
Discovery of genetic variants directly associated with the gene expression level (SNP located within +/- 1 Mb of the TSS); 'expression quantitative trait loci' (eQTL). Hover over the table headers for a description of several of the fields.
| SNP ID | Cell type | Position (chr1) | Padj(eQTL) | Effect size | GWAS | pieQTL |
|---|
| SNP | Cluster | Position (chr1) | Padj(eQTL) | Effect size |
|---|
| SNP | Disease or trait | Padj(gwas) |
|---|
| SNP | Distance(bp) from TSS | Cell type | Padj(eQTL) |
|---|
| Reference | Title of article | Pubmed ID |
|---|
UCSC Genome Browser
RNA expression levels (in reads per million) averaged across samples are shown for each cell type, along with the Gencode annotations. Controls allow you to zoom in/out, move to a different region of the genome, change scales, or add/remove tracks. Future versions will also display SNPs/eQTLs as separate tracks.
RNA expression levels (in reads per million) averaged across samples are shown for each cell type, along with the Gencode annotations. Controls allow you to zoom in/out, move to a different region of the genome, change scales, or add/remove tracks. Future versions will also display SNPs/eQTLs as separate tracks.
