Overview

Variant ID 1528
Entrez Gene ID 6095
Gene RORA (GeneCards)
Location hg19 15:60789727-60789727
hg38 15:60497528-60497528
Disease Multiple Sclerosis (view all the variants in this disease)
Method sequencing
Mutation(HGVS format) NC_000015.9:g.60789727_60789727 del (Genome Assembly: GRCh37)

Other information

Exon or Intron Exon
Position in protein 533
Amino acid changes in protein R > Q
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NM_134261.2
mRNA length 10828
Reference length 102531392

Annotations and predictions

Deleterious probability by DeFine 0.8707 (Deleterious)
Entrez Gene ID 6095 (NCBI Gene)
Official Gene Symbol RORA (GeneCards)
Number of variants in RORA in this database 19 (view all the variants)
Full name RAR related orphan receptor A
Band 15q22.2
Other IDs Vega: OTTHUMG00000132769
OMIM: 600825
HGNC: HGNC:10258
Ensembl: ENSG00000069667
Other names ROR1, ROR2, ROR3, RZRA, NR1F1, RZR-ALPHA
Summary The protein encoded by this gene is a member of the NR1 subfamily of nuclear hormone receptors. It can bind as a monomer or as a homodimer to hormone response elements upstream of several genes to enhance the expression of those genes. The encoded protein has been shown to interact with NM23-2, a nucleoside diphosphate kinase involved in organogenesis and differentiation, as well as with NM23-1, the product of a tumor metastasis suppressor candidate gene. Also, it has been shown to aid in the transcriptional regulation of some genes involved in circadian rhythm. Four transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2014]

Individual #1

Individual ID 27932211.07 (view all the variants in this individual)
Pubmed ID 27932211
Whose mosaic mutation Female Patient  
Origin of mosaic mutation in patients de novo
Phenotype 3  
Disease Multiple Sclerosis (view all the variants in this disease)
OMIM ID 126200

Publication #1: 27932211

Pubmed ID 27932211
Title A novel class of somatic mutations in blood detected preferentially in CD8+ cells.
Journal Clinical Immunology
Publication date 2017.02
Disease Multiple Sclerosis;neurological autoimmune disease
Number of cases Male cases: 4; Female cases: 8;