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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. RYR1, ryanodine receptor 1 (skeletal)
Sequence ID:NM_000540
NM_001042723
RefSeqGene ID:NG_008866
Entrez Gene ID:6261
Ensembl ID:ENSG00000196218

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
CENTRAL COREDISEASE 
MALIGNANT HYPERTHERMIA SUSCEPTIBILITY 1 
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA 

Cytogenetic Location (from UniGene)

Cytogenetic Location:19q13.1Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:19: 38986853 - 39055868

 Exon Info From UCSC:
NM_000540
NM_001042723

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000531  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_000540 NP_000531 P21817 Ion_trans
SPRY
RYDR_ITPR
RyR
MIR
RR_TM4-6
RIH_assoc
NM_001042723 NP_001036188    

Related Sequences

 
mRNAGenPeptSwissProt
J05200 AAA60294 P21817
AF075460 AAC26798 O75591
AB209425 BAD92662 Q59FN5
AK293785 BAG57198 B4DET7
A20359 CAA01501  

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens RYR1 NP_000531 M.musculus Ryr1 20190 Gene Info NP_033135 96
R.norvegicus Ryr1l 114207   XP_341819 95

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)