Basic information
- Full name
- neurofilament light
- Ensembl
- ENSG00000277586.3
- Summary
- Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]
Protein product
- ENST00000610854.2 Primary ENSP00000482169.2 (35 phosphosites)
- ENST00000639464.1
- ENST00000619417.1
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 | 1.8e-9 | - | 4.6e-5 | - | - | 3.2e-4 | 5e-8 | 0.11 | - | -0.2 | - |
protein | -9e-17 | - | 7.9e-7 | -3.5e-14 | - | -1.2e-19 | -0.32 | -0.029 | -0.002 | -0.016 | -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 NEFL with phenotypes and mutations
Signed p-values | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|
Phenotype | Meta P | BRCA | CCRCC | COAD | GBM | HNSCC | LSCC | LUAD | OV | PDAC | UCEC | |
HALLMARK_MYOGENESIS | 9.2e-14 | 7.3e-5 | 0.58 | 0.011 | 0.2 | 1.6e-10 | -0.97 | 4.3e-3 | 0.53 | 0.016 | 2.6e-3 | |
HALLMARK_APICAL_JUNCTION | 1.6e-10 | 3.3e-5 | 1.5e-4 | 0.18 | 0.72 | 5e-7 | 0.64 | 0.023 | 0.64 | 0.59 | 0.07 | |
ESTIMATE: StromalScore | 3.3e-10 | 7.7e-6 | 0.15 | 7.6e-3 | 0.083 | 3.9e-4 | 0.83 | 0.43 | 0.64 | 0.12 | 2.8e-3 | |
HALLMARK_KRAS_SIGNALING_UP | 6.8e-10 | 7.6e-4 | 0.045 | 0.014 | 0.23 | 6.9e-3 | -0.87 | 0.42 | 0.27 | 1.3e-4 | 0.025 | |
DISEASE-PSP_Alzheimer's_disease | 1.9e-9 | - | - | - | 2.2e-16 | - | - | - | - | - | 0.77 | |
HALLMARK_COAGULATION | 2.8e-9 | 1.3e-3 | 4.5e-6 | 0.015 | 0.59 | 0.019 | -0.84 | 0.042 | 0.49 | 0.38 | 0.024 | |
HALLMARK_EPITHELIAL_MESENCHYMAL_TRANSITION | 2.3e-7 | 5.1e-5 | 6.9e-3 | 0.029 | -0.42 | 5.4e-3 | 0.36 | 0.43 | 0.62 | 0.92 | 1.6e-3 | |
HALLMARK_KRAS_SIGNALING_DN | 2.4e-7 | -0.31 | 0.7 | 0.51 | 1.2e-3 | 4.1e-8 | 0.38 | 5.3e-3 | 0.21 | 0.45 | 0.056 | |
PROGENy: p53 | 4.1e-7 | 9.2e-6 | 5.8e-3 | 0.13 | 0.099 | 0.23 | 0.57 | 4.8e-3 | 0.88 | 0.92 | 0.4 | |
HALLMARK_HEDGEHOG_SIGNALING | 4.3e-7 | 0.011 | 0.63 | 0.59 | 0.54 | 0.35 | 1.5e-3 | 6.3e-4 | 0.41 | 0.015 | 0.3 |
Cis-association
Associations between omics data of NEFL
Trans-association
Associations of the protein abundance of NEFL 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.