GeneBe

MAGOHB

mago homolog B, exon junction complex subunit, the group of Exon junction complex

Basic information

Region (hg38): 12:10604190-10613609

Links

ENSG00000111196 ∙ NCBI:55110 ∙ OMIM:619552 ∙ HGNC:25504 ∙ Uniprot:Q96A72 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MAGOHB gene.

  • not_specified (13 variants)
  • not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAGOHB gene is commonly pathogenic or not. These statistics are base on transcript: NM_000018048.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
0
missense
13
clinvar
 13
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 13 0 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MAGOHBprotein_codingprotein_codingENST00000320756 57611
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.3270.6591257350121257470.0000477
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.7785169.20.7370.00000308972
Missense in Polyphen1923.2270.81801379
Synonymous0.4542022.80.8790.00000101247
Loss of Function2.0728.500.2354.89e-7103

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002890.0000289
Ashkenazi Jewish0.000.00
East Asian0.00005440.0000544
Finnish0.00009350.0000924
European (Non-Finnish)0.00007070.0000703
Middle Eastern0.00005440.0000544
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Involved in mRNA splicing and in the nonsense-mediated decay (NMD) pathway. {ECO:0000250}.;
Pathway
mRNA surveillance pathway - Homo sapiens (human);RNA transport - Homo sapiens (human);Spliceosome - Homo sapiens (human);Gene expression (Transcription);RNA Polymerase II Transcription;Metabolism of RNA;Cleavage of Growing Transcript in the Termination Region ;RNA Polymerase II Transcription Termination;mRNA Splicing - Major Pathway;Nonsense-Mediated Decay (NMD);Transport of Mature mRNA derived from an Intron-Containing Transcript;Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC);mRNA Splicing;mRNA 3,-end processing;Transport of Mature Transcript to Cytoplasm;Processing of Capped Intron-Containing Pre-mRNA (Consensus)

Recessive Scores

pRec
0.110

Intolerance Scores

loftool
0.595
rvis_EVS
-0.05
rvis_percentile_EVS
49.39

Haploinsufficiency Scores

pHI
0.197
hipred
N
hipred_score
0.297
ghis
0.697

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
H
gene_indispensability_pred
E
gene_indispensability_score
0.559

Mouse Genome Informatics

Gene name
Magohb
Phenotype

Gene ontology

Biological process
nuclear-transcribed mRNA catabolic process, nonsense-mediated decay;mRNA splicing, via spliceosome;RNA export from nucleus;mRNA export from nucleus;RNA splicing;mRNA 3'-end processing
Cellular component
nucleoplasm;exon-exon junction complex;neuronal cell body;catalytic step 2 spliceosome
Molecular function
RNA binding;protein binding