Basic information
- Full name
- SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
- Ensembl
- ENSG00000138375.13
- Summary
- The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]
Protein product
- ENST00000357276.9 Primary ENSP00000349823.4 (14 phosphosites)
- ENST00000358207.9
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 | 1.3e-21 | - | 1.8e-13 | - | - | 0.16 | 3.7e-8 | 8.3e-12 | - | 0.8 | - |
protein | 1.4e-10 | - | 4.1e-24 | 0.88 | - | 0.016 | 2.8e-8 | 0.087 | 0.85 | -0.36 | -0.28 |
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 SMARCAL1 with phenotypes and mutations
Signed p-values | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Phenotype | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC | |
KINASE-PSP_CDK2 | 2.4e-5 | 0.17 | 0.14 | -0.54 | - | 0.021 | 0.02 | -0.96 | 0.12 | 9.0e-5 | 0.72 | |
HALLMARK_E2F_TARGETS | 1.1e-4 | 0.076 | 0.014 | 0.83 | - | 0.29 | 0.2 | -0.87 | 0.71 | 5.4e-3 | 0.064 | |
HALLMARK_MYC_TARGETS_V2 | 1.5e-3 | 0.043 | 0.51 | 0.89 | - | 0.59 | 0.26 | -0.65 | 0.43 | 4.4e-3 | 0.066 | |
HALLMARK_G2M_CHECKPOINT | 3.2e-3 | 0.14 | 0.14 | -0.98 | - | 0.25 | 0.41 | -0.6 | -0.85 | 0.021 | 0.019 | |
HALLMARK_DNA_REPAIR | 3.3e-3 | 0.031 | 0.062 | 0.46 | - | 0.93 | 0.27 | -0.61 | 0.42 | 0.2 | 0.2 | |
xcell: T cell gamma delta | 0.007 | 0.93 | -0.85 | 0.49 | - | 0.55 | 0.37 | 0.3 | 0.31 | 0.068 | 0.033 | |
HALLMARK_MYC_TARGETS_V1 | 7.2e-3 | 0.07 | 0.13 | 0.81 | - | 0.93 | 0.62 | 0.48 | -0.68 | 1.3e-3 | 0.69 | |
TP53 mutation | 8.6e-3 | 0.51 | - | -0.64 | - | 0.92 | - | 0.31 | - | 0.02 | 5.1e-3 | |
xcell: T cell CD4+ memory | 0.011 | -0.32 | 0.49 | -0.98 | - | 0.084 | 0.31 | 0.024 | 0.6 | -0.77 | 7.2e-3 | |
Clinical: progression_free_survival | 0.021 | - | 0.46 | - | - | 0.03 | 0.25 | -0.84 | - | 0.12 | 0.82 |
Cis-association
Associations between omics data of SMARCAL1
Trans-association
Associations of the protein abundance of SMARCAL1 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.