Basic information

Full name
gamma-butyrobetaine hydroxylase 1
Ensembl
ENSG00000129151.9
Summary
This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. [provided by RefSeq, Jul 2008]

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
RNA5.8e-4--6.9e-14---1.4e-59.4e-321.5e-13-0.68-
protein-4.6e-11--6e-20---1.7e-70.035--0.37--

* 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
BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC0246810121416log2(RSEM+1)tumornormal
Protein expression
BRCACCRCCGBMHNSCCLSCCLUADOVPDACUCEC141618202224262830log2(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

BRCACCRCCCOADGBMHNSCCLSCCLUADOVPDACUCEC0246810121416180-2-4-6-8-10-12-14-16-18Pan-cancer0123456780-1-2-3-4-5-6-7-8proteinRNASCNVclinicalpathwaycell 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 BBOX1 with phenotypes and mutations

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Signed p-values
Phenotype
Meta P
BRCA
CCRCC
COAD
GBM
HNSCC
LSCC
LUAD
OV
PDAC
UCEC
HALLMARK_BILE_ACID_METABOLISM3.6e-8-0.172.2e-16-7.6e-40.380.17-0.0710.440.57
PROGENy: TNFa9.1e-72.2e-16-0.034-0.240.721.7e-3--0.820.80.002
PROGENy: NFkB9.6e-72.2e-16-0.27-0.260.782.5e-3-0.97-0.779.7e-3
KINASE-PSP_PKCA/PRKCA3.9e-62.8e-4--0.0794.2e-40.026--0.054-10.037
HALLMARK_HEME_METABOLISM4.1e-60.794.6e-3-0.0130.0210.39-2.5e-3-10.69
PATH-NP_EGFR1_PATHWAY9.4e-66.8e-4-0.18-5.2e-41.9e-34.1e-3--0.68-0.86
xcell: T cell CD4+ (non-regulatory)1.4e-5-0.710.1-0.353.6e-37.1e-4-8.2e-3-0.250.022
HALLMARK_P53_PATHWAY2.5e-53.2e-6-0.39-0.731.6e-30.064--0.950.180.14
PERT-PSP_EGF2.6e-52.6e-5-0.52-0.0430.0450.018-0.570.730.31
HALLMARK_TNFA_SIGNALING_VIA_NFKB3.5e-51.2e-9-0.23-0.380.174.6e-4--0.47-0.750.035
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 BBOX1

BRCA0.80-0.020.10proteinmRNASCNVmethylationCCRCC0.920.030.05proteinmRNASCNVmethylationCOAD0.03proteinmRNASCNVmethylationGBM0.850.150.13proteinmRNASCNVmethylationHNSCC0.770.110.27proteinmRNASCNVmethylationLSCC0.590.110.23proteinmRNASCNVmethylationLUAD0.14proteinmRNASCNVmethylationOV0.740.090.29proteinmRNASCNVmethylationPDAC0.700.010.14proteinmRNASCNVmethylationUCEC0.65-0.020.06proteinmRNASCNVmethylation

* 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 BBOX1 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.