Table 2 Functional enrichment in FMR1 protein-coding gene loci network
From: Phenotypic variability to medication management: an update on fragile X syndrome
GO-term | Function | Count in network | Strength | FDR |
|---|---|---|---|---|
Biological functions | ||||
GO:0099578 | Regulation of translation at postsynapse, modulating synaptic transmission | 2/3 | 3/07 | 0.0039 |
GO:0035087 | siRNA loading onto RISC involved in RNA interference | 2/4 | 2.95 | 0.0039 |
GO:0051388 | Positive regulation of neurotrophin TRK receptor signaling pathway | 2/7 | 2.71 | 0.0055 |
GO:2000637 | Positive regulation of gene silencing by miRNA | 3/24 | 2.35 | 0.00082 |
GO:2001022 | Positive regulation of response to DNA damage stimulus | 3/106 | 1.7 | 0.0096 |
Cellular component (gene ontology) | ||||
GO:1902737 | Dendritic filopodium | 3/4 | 3.13 | 1.31e−6 |
GO:0044326 | Dendritic spine neck | 3/7 | 2.88 | 2.98e−6 |
GO:0005845 | mRNA cap binding complex | 4/11 | 2.81 | 4.16e−8 |
GO:0016442 | RISC-loading complex | 2/8 | 2.65 | 0.00073 |
GO:0010494 | Cytoplasmic stress granule | 4/73 | 1.99 | 9.34e−6 |
KEGG pathways | ||||
hsa03013 | RNA transport | 5/160 | 1.74 | 5.96e−6 |
Disease-gene associations (DISEASES) | ||||
DOID:14261 | Fragile X syndrome | 4/6 | 3.07 | 4.94e−8 |
Protein domains (Pfam) | ||||
PF12235 | Fragile X-related 1 protein core C-terminal | 3/3 | 3.25 | 9.09e−6 |
PF05994 | Cytoplasmic fragile-X interacting family | 2/2 | 3.25 | 0.0017 |
PF00013 | KH domain | 3/39 | 2.14 | 0.0017 |