Basic information

Full name
damage specific DNA binding protein 1
Ensembl
ENSG00000167986.14
Summary
The protein encoded by this gene is the large subunit (p127) of the heterodimeric DNA damage-binding (DDB) complex while another protein (p48) forms the small subunit. This protein complex functions in nucleotide-excision repair and binds to DNA following UV damage. Defective activity of this complex causes the repair defect in patients with xeroderma pigmentosum complementation group E (XPE) - an autosomal recessive disorder characterized by photosensitivity and early onset of carcinomas. However, it remains for mutation analysis to demonstrate whether the defect in XPE patients is in this gene or the gene encoding the small subunit. In addition, Best vitelliform mascular dystrophy is mapped to the same region as this gene on 11q, but no sequence alternations of this gene are demonstrated in Best disease patients. The protein encoded by this gene also functions as an adaptor molecule for the cullin 4 (CUL4) ubiquitin E3 ligase complex by facilitating the binding of substrates to this complex and the ubiquitination of proteins. [provided by RefSeq, May 2012]
Annotation
Essential genes

Protein product

Phosphosites on the primary protein product
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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
RNA1.3e-5--5e-17---0.261.9e-255e-16-0.58-
protein2.4e-17-2.8e-135.6e-5--9.1e-68.1e-113.9e-225.3e-4-5.5e-91.1e-3

* 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
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC11.611.81212.212.412.612.81313.213.413.613.81414.214.414.6log2(RSEM+1)tumornormal
Protein expression
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC25.82626.226.426.626.82727.227.427.627.82828.228.428.6log2(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

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC02468101214160-2-4-6-8-10-12-14-16Pan-cancer0510152025300-5-10-15-20-25-30proteinRNASCNVclinicalpathwaycell 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 DDB1 with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
Tumor Purity (ABSOLUTE)2.1e-190.0475.6e-80.0151.7e-40.0136.6e-80.0370.0190.0640.47
Tumor Purity (WGS)1.3e-17-1.9e-7-2.1e-40.0356e-110.014-0.20.19
chromosomal instability6e-150.0880.86.2e-31.8e-37.7e-51.4e-92.8e-30.0110.039-0.46
xcell: T cell CD4+ Th11.1e-81.3e-30.0268.7e-35.1e-50.119.8e-50.750.72-0.230.33
HALLMARK_SPERMATOGENESIS9.2e-70.0440.85-0.240.142.7e-53.9e-80.30.190.890.42
HALLMARK_DNA_REPAIR1.8e-65.3e-30.085-0.620.0190.21.8e-60.620.52-0.980.12
HALLMARK_MYC_TARGETS_V22.4e-50.240.990.370.0880.213.5e-8-0.280.0270.920.11
PBRM1 mutation1.1e-3-1.1e-3--------
HALLMARK_E2F_TARGETS1.5e-30.690.36-0.760.12.4e-46.8e-7-0.31-0.47-0.420.2
KINASE-PSP_PLK12.5e-3---0.956.9e-7----0.83
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 DDB1

BRCA0.320.000.43proteinmRNASCNVmethylationCCRCC0.19-0.04-0.020.030.140.07proteinmRNASCNVmethylationCOAD0.310.260.39proteinmRNASCNVmethylationGBM0.17-0.030.13-0.010.220.05proteinmRNASCNVmethylationHNSCC0.21-0.020.22-0.190.54-0.11proteinmRNASCNVmethylationLSCC0.240.02-0.03-0.090.38-0.12proteinmRNASCNVmethylationLUAD0.270.150.33-0.180.62-0.10proteinmRNASCNVmethylationOV0.340.150.40proteinmRNASCNVmethylationPDAC0.110.150.00-0.050.320.01proteinmRNASCNVmethylationUCEC0.35-0.050.23-0.080.24-0.23proteinmRNASCNVmethylation

* 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 DDB1 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.