Basic information
- Full name
- ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
- Ensembl
- ENSG00000175164.15
- Summary
- This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. This locus has been identified as a susceptibility locus for severe coronavirus disease 2019 (COVID-19) by genome-wide association study. [provided by RefSeq, Aug 2020]
Protein product
- ENST00000538324.2 Primary ENSP00000483018.1 (0 phosphosite)
- ENST00000611156.4
Phosphosites on the primary protein product
Tumor and normal comparison
Signed p-values | |||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Data type | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC |
RNA | -6.7e-10 | - | -5.9e-22 | - | - | -4.4e-9 | -7.1e-3 | 8.7e-3 | - | 0.077 | - |
protein | -9.5e-6 | - | -0.28 | -6.8e-4 | - | -0.14 | -0.034 | 0.73 | - | -1.8e-3 | - |
mRNA expression at gene level
Protein expression
Phenotype and mutation association
Manhattan plot summarizing associations of phenotypes and mutations across all cohorts and omics data types
Associations of the protein abundance of ABO with phenotypes and mutations
Signed p-values | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Phenotype | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC | |
HALLMARK_ESTROGEN_RESPONSE_EARLY | 5.2e-4 | - | 0.055 | 0.29 | - | 0.65 | 0.014 | 0.28 | - | 0.12 | - | |
HALLMARK_ESTROGEN_RESPONSE_LATE | 7.2e-4 | - | 7.4e-3 | 0.19 | - | 0.26 | 0.27 | 0.37 | - | 0.24 | - | |
PROGENy: Androgen | 5.3e-3 | - | 0.048 | 0.098 | - | 0.61 | 0.41 | 0.87 | - | 0.09 | - | |
xcell: Neutrophil | 0.012 | - | 0.85 | -0.39 | - | 3.6e-4 | 0.63 | 0.42 | - | 0.052 | - | |
PROGENy: VEGF | 0.024 | - | 0.4 | 0.058 | - | 0.073 | 8.7e-4 | -0.18 | - | -0.31 | - | |
HALLMARK_HEME_METABOLISM | 0.03 | - | 0.45 | 0.045 | - | 0.68 | 0.43 | 0.55 | - | 0.45 | - | |
HALLMARK_KRAS_SIGNALING_DN | 0.031 | - | 0.25 | 0.23 | - | 0.78 | 0.45 | 0.19 | - | 0.58 | - | |
RNF43 mutation | 0.035 | - | - | 0.035 | - | - | - | - | - | - | - | |
cibersort: Mast cell resting | 0.035 | - | 6.1e-3 | 0.7 | - | 0.02 | 0.54 | -0.68 | - | -0.63 | - | |
Clinical: Tumor_necrosis | 0.043 | - | 0.13 | - | - | 0.68 | 0.39 | 0.2 | - | - | - |
Cis-association
Associations between omics data of ABO
Trans-association
Associations of the protein abundance of ABO and the protein abundance of other genes
Signed p-values | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Gene | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC | |
No matching records found |
Gene set enrichment analysis
Submit genes and the common logarithm of the p-values of their association with to WebGestalt.