Gene ontology (GO)Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:29301961, PubMed:30705154). Plays a redundant role with MAGOH in the exon junction complex and in the nonsense-mediated decay (NMD) pathway (PubMed:23917022)
Evidence Score:★☆☆☆☆ Gene-disease association found in Text Mining only★★☆☆☆ Found in Text Mining and Unknown/Other Associations★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations
ClinVar entries with uncertain/conflicting evidence, and associations from other databases
(OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
["Nucleocytoplasmic transport","mRNA surveillance pathway","Spliceosome","mRNA Splicing - Major Pathway","Transport of Mature mRNA derived from an Intron-Containing Transcript","mRNA 3'-end processing","RNA Polymerase II Transcription Termination","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)"]
["Nucleocytoplasmic transport","mRNA surveillance pathway","Spliceosome","mRNA Splicing - Major Pathway","Transport of Mature mRNA derived from an Intron-Containing Transcript","mRNA 3'-end processing","RNA Polymerase II Transcription Termination","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)"]
["Nucleocytoplasmic transport","mRNA surveillance pathway","mRNA Splicing - Major Pathway","Transport of Mature mRNA derived from an Intron-Containing Transcript","mRNA 3'-end processing","RNA Polymerase II Transcription Termination","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)"]
["Nucleocytoplasmic transport","mRNA surveillance pathway","mRNA Splicing - Major Pathway","Transport of Mature mRNA derived from an Intron-Containing Transcript","mRNA 3'-end processing","RNA Polymerase II Transcription Termination","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)"]
["Nucleocytoplasmic transport","mRNA surveillance pathway","mRNA Splicing - Major Pathway","Transport of Mature mRNA derived from an Intron-Containing Transcript","mRNA 3'-end processing","RNA Polymerase II Transcription Termination","Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)"]
0
[]
Diseases Linked via Similar GenesDiseases curated for genes most similar to MAGOHB (see Related Genes above), that are NOT already directly curated for MAGOHB itself -- a lead worth checking, not a confirmed association.