Gene Information
|
Gene Name
|
RYR1 |
|
Gene ID
|
6261
|
|
Gene Full Name
|
ryanodine receptor 1 |
|
Gene Alias
|
CCO|CMYO1A|CMYO1B|CMYP1A|CMYP1B|KDS|MHS|MHS1|PPP1R137|RYDR|RYR|RYR-1|SKRR |
|
Transcripts
|
ENSG00000196218
|
|
Virus
|
HTLV1 |
|
Gene Type
|
protein-coding |
|
HPA Location Info
|
Golgi apparatus, Vesicles;Cytosol; 
|
|
Membrane Info
|
Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted membrane proteins, Transporters |
|
Uniport_ID
|
P21817
|
|
HGNC ID
|
HGNC:10483
|
|
OMIM ID
|
180901 |
|
Summary
|
This gene encodes a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008] |
Target gene [RYR1] related to VISs 
Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section
| DVID |
Chromosome |
HM |
TFBS |
CA |
Sum of Overlapped Records |
Detail |
| 6004281 |
chr19 |
80 |
36 |
5 |
121 |
View |
| 6014240 |
chr19 |
17 |
0 |
0 |
17 |
View |
| 6016887 |
chr19 |
9 |
2 |
0 |
11 |
View |
Target gene [RYR1] related to Omics data
| Data ID |
Experiment type |
Sample number |
Platform |
|
GSE189602
|
Methylation profiling (Array) |
4 |
Infinium MethylationEPIC |
|
C GSE94732
|
Chip-seq |
24 |
Illumina NextSeq 500 (Homo sapiens);illumina Genome Analyzer IIx (Homo sapiens) |
|
GSE52244
|
Expression array |
15 |
[HuEx-1_0-st] Affymetrix Human Exon 1.0 ST Array [probe set (exon) version] |
|
GSE10789
|
Expression array |
6 |
NCI/ATC Hs-OperonV3 |
|
GSE224047
|
RNA-seq |
10 |
Illumina NextSeq 500 (Homo sapiens) |
|
GSE168557
|
Expression array |
6 |
Agilent-039494 SurePrint G3 Human GE v2 8x60K Microarray 039381 (Feature Number version) |
|
GSE136189
|
Methylation profiling (Array) |
40 |
Illumina HumanMethylation450 BeadChip (HumanMethylation450_15017482);Illumina Infinium HumanMethylation850 BeadChip |
When the gene can detect a peak in the dataset, a peak plot will be displayed.
> Dataset: GSE94732 - RYR1 peak across samples
|
Peak Plot
|
|
|
HTLV1 Target gene Detail Information
