Genomic imprinting
Gene: FAM50B

FAM50B (family with sequence similarity 50 member B)
EnsemblGeneIds (GRCh38): ENSG00000145945
EnsemblGeneIds (GRCh37): ENSG00000145945
OMIM: 614686, Gene2Phenotype
FAM50B is in 0 panels

1 review

Sarah Leigh (Genomics England Curator)

I don't know

FAM50B-AS - FAM50B Antisense Transcript, which is included on FAM50B entry in OMIM 614686. 1,743 bp long. 5 end of FAM50BAS occurs at position +1506 relative to the FAM50B translational start site, which is also the nucleotide where the FAM50B mRNA terminates. The 3 end of FAM50BAS occurs within intron 1 of FAM50B, at position -237 relative to the translational start site of FAM50B (PMID 21421564). Circadian expression reported in CircaDB (http://circadb.hogeneschlab.org/human)
Created: 22 Dec 2020, 6:10 p.m. | Last Modified: 22 Dec 2020, 6:10 p.m.

Panel Version: 0.26

Created: 22 Dec 2020, 6:10 p.m.
Last Modified: 22 Dec 2020, 6:10 p.m.
Panel version: 0.26

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)

Sources

Literature

OMIM

614686

Clinvar variants

Variants in FAM50B

Penetrance

None

Publications

30794780
http://igc.otago.ac.nz/home.html
21421564

Panels with this gene

History Filter Activity

22 Dec 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

gene: FAM50B was added gene: FAM50B was added to Imprinted Genes. Sources: Literature Mode of inheritance for gene: FAM50B was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Publications for gene: FAM50B were set to 30794780; http://igc.otago.ac.nz/home.html; 21421564

Genomic imprinting Gene: FAM50B