Gene: DMD

LinkedOmicsKB © 2022-2023 Zhang Lab

Basic information

Full name
dystrophin
Ensembl
ENSG00000198947.15
Summary
This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]
Annotation
Cancer driver (Oncogene)

Protein product

  • ENST00000357033.8 Primary ENSP00000354923.3 (41 phosphosites)
  • ENST00000288447.8
  • ENST00000378723.7
  • ENST00000361471.8
  • ENST00000378702.8
  • ENST00000378680.6
  • ENST00000620040.4
  • ENST00000378677.6
  • ENST00000619831.4
  • ENST00000474231.5
  • ENST00000359836.5
  • ENST00000378707.7
  • ENST00000541735.5
  • ENST00000343523.6
Phosphosites on the primary protein product

Tumor and normal comparison

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Signed p-values
Data type
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
RNA-2.1e-48-0.38---1.1e-11-6.1e-28-6.1e-29--3.1e-6-
protein-1.3e-97--6.6e-15-6.3e-30--3.6e-7-3.7e-35-9.5e-34-2.3e-11-5.5e-4-0.66

* P-values are from Wilcoxon rank sum test and can be clicked to show the box plots. Positive values mean higher abundance in tumor. BRCA and GBM do not have normal samples.

mRNA expression at gene level
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC45678910111213141516log2(RSEM+1)tumornormal
Protein expression
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC21222324252627282930log2(MS1 intensity)tumornormal

* Mild outlier: filled circle; Extreme outlier: empty circle.

Phenotype and mutation association

Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC0246810121416182022240-2-4-6-8-10-12-14-16-18-20-22-24Pan-cancer0102030405060700-10-20-30-40-50-60-70proteinRNASCNVclinicalpathwaycell typegenomicmutation-log10 of P-value

* Data points of significant associations above and below the dotted lines can be hovered to show the phenotype.

Associations of the protein abundance of DMD with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
xcell: stroma score4.5e-714.9e-71.2e-32.2e-160.391.2e-92.2e-166.2e-72.7e-92.3e-82.2e-16
HALLMARK_MYOGENESIS3.5e-688.5e-93.3e-102.1e-712.2e-162.3e-61.9e-72.4e-81.8e-92.2e-16
xcell: Hematopoietic stem cell2.6e-571.2e-84.9e-54e-80.581.2e-62.2e-162.2e-165.3e-44.4e-55.8e-9
xcell: Cancer associated fibroblast2.7e-528.0e-61.6e-68.2e-12-0.522.4e-62.2e-71.0e-61e-82.2e-73.4e-12
ESTIMATE: StromalScore3.2e-372.4e-62.9e-72.0e-5-0.22e-92.8e-80.0973.1e-31.9e-32.2e-16
HALLMARK_UV_RESPONSE_DN5e-351.1e-75.3e-31.2e-3-0.263.3e-45.8e-84.4e-83.7e-50.0452.2e-16
PROGENy: TGFb4.1e-321e-78.6e-92.8e-4-0.314.7e-74.2e-60.0135.4e-50.114.6e-9
HALLMARK_APICAL_JUNCTION9.5e-314.7e-71.0e-60.045-0.182.2e-163.4e-40.0921.0e-60.0291.1e-7
HALLMARK_EPITHELIAL_MESENCHYMAL_TRANSITION4.3e-253.0e-62.5e-53.0e-4-0.156.5e-43.7e-60.952.6e-40.0922.2e-16
HALLMARK_KRAS_SIGNALING_UP8.9e-251.2e-41.6e-41.1e-6-0.578.2e-46.4e-90.020.0166.1e-37.3e-5
Showing 1 to 10 of 256 rows

* P-values could be from test for Spearman correlation, Wilcoxon rank sum test, Jonckheere-Terpstra trend test or Cox regression depending on the data type. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Cis-association

Associations between omics data of DMD

BRCA0.640.04-0.01proteinmRNASCNVmethylationCCRCC0.75-0.11-0.19-0.06-0.110.09proteinmRNASCNVmethylationCOAD0.540.070.26proteinmRNASCNVmethylationGBM0.860.00-0.04-0.120.080.03proteinmRNASCNVmethylationHNSCC0.700.030.15-0.030.21-0.03proteinmRNASCNVmethylationLSCC0.700.04-0.060.090.09-0.18proteinmRNASCNVmethylationLUAD0.690.05-0.060.030.09-0.08proteinmRNASCNVmethylationOV0.410.170.05proteinmRNASCNVmethylationPDAC0.52-0.160.09-0.160.15-0.33proteinmRNASCNVmethylationUCEC0.75-0.410.04-0.32-0.040.23proteinmRNASCNVmethylation

* The numbers are Spearman correlation coefficients and can be clicked to show the scatter plots. The color and size of the circles correlate with the coefficients.

Trans-association

Associations of the protein abundance of DMD and the protein abundance of other genes

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Signed p-values
Gene
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
No matching records found

* P-values are from test for Spearman correlation. P-values for individual cohorts can be clicked to show the data plots. The matrix icons in each row can be clicked to show a heatmap summary of associations across all cohorts and omics. The rows in the table can be expanded to show results from other omics.

Gene set enrichment analysis

Submit genes and the common logarithm of the p-values of their association with to WebGestalt.