| Disease ID | Disease name | Source of annotation with UPF3B | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS309510 | MENTAL RETARDATION, X-LINKED SYNDROMIC | ClinVar, OMIM, HUMSAVAR | link to OMIM | 27 | AP1S2, PRPS1, IGBP1, RBMX, HUWE1, RAB40AL, HSD17B10, ATP6AP2, PHF8, CLIC2, CASK, TAF1, FGD1, CUL4B, PQBP1, ZDHHC9, NONO, UPF3B, SMS, HDAC8, UBE2A, MECP2, KDM5C, ARX, SLC9A6, GRIA3, PHF6 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| mRNA surveillance pathway | hsa03015 | 6.28 |
| RNA transport | hsa03013 | 5.37 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| mRNA Splicing - Major Pathway | R-HSA-72163 | 6.15 |
| mRNA Splicing | R-HSA-72172 | 6.15 |
| Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) | R-HSA-975957 | 6.25 |
| Gene Expression | R-HSA-74160 | 2.72 |
| Cleavage of Growing Transcript in the Termination Region | R-HSA-109688 | 7.56 |
| Transport of Mature mRNA derived from an Intron-Containing Transcript | R-HSA-159236 | 8.4 |
| mRNA 3'-end processing | R-HSA-72187 | 7.89 |
| Transport of Mature Transcript to Cytoplasm | R-HSA-72202 | 8.18 |
| Processing of Capped Intron-Containing Pre-mRNA | R-HSA-72203 | 6.1 |
| Nonsense-Mediated Decay (NMD) | R-HSA-927802 | 6.25 |
| RNA Polymerase II Transcription Termination | R-HSA-73856 | 7.56 |
| RNA Polymerase II Transcription | R-HSA-73857 | 6.25 |
| GO term | GO ID | GO IC |
|---|---|---|
| protein binding | GO:0005515 | 0.46 |
| transporter activity | GO:0005215 | 2.57 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| nucleotide binding | GO:0000166 | 1.96 |
| small molecule binding | GO:0036094 | 1.89 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| nucleocytoplasmic transporter activity | GO:0005487 | 6.56 |
| mRNA binding | GO:0003729 | 4.68 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| RNA binding | GO:0003723 | 2.36 |