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RYR1 (Gene)

Organism:

Homo sapiens

Taxonomy (Entity type)
Synonyms:CCO, ENTREZ:6261, HGNC:10483, MHS, MHS1, MIM:180901, NM_000540, NM_001042723, NP_000531, NP_001036188, PPP1R137, RYDR, RYR, RYR-1, RYR1, SKRR, XM_006723317, XM_006723319, XM_011527205, XP_006723380, XP_006723382, XP_011525507, XR_001753735, ryanodine receptor 1
Omim:OMIM:180901
Id:ENSG00000196218
Hgnc:HGNC:10483
Entrez:6261
Ensembl:ENSG00000196218
Description:ryanodine receptor 1
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]

Analyze

Data Distillery
CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View RYR1's neighborhood in the knowledge graph.

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Playbook Workflow Builder
Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with RYR1.

Gene Partnership Appyter
CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using RYR1.

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Gene and Drug Landing Page Aggregator
GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for RYR1.

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Playbook Workflow Builder
Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with RYR1.

Results found

Linked to

 

Label

Description

 

Gene Set

GSE216043 10 V 5 CISPLATIN HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE128730 3 V 5 NERATINIB HUMAN UP

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE195559 NOTCH1 knockout endothelial cell cardiac muscle cell stem cell 2 v 7 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE164874 5 V 10 PREDNISOLONE HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE93156 idelalisib B cell 1 v 0 human dn

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE252944 AKT inhibition 10 v 15 human up

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE151612 4 V 2 PRACINOSTAT HUMAN DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE128240 0 V 1 CYCLOPHOSPHAMIDE MOUSE DN

Gene Set (Entity type)

A Gene Set from LINCS

Gene Set

GSE225375 CDK12 CDK13 inhibition 2 v 0 human up

Gene Set (Entity type)

A Gene Set from LINCS

  • Gene Set

    GSE216043 10 V 5 CISPLATIN HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE128730 3 V 5 NERATINIB HUMAN UP

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE158834 ADIPOR2 knockout HEK293 1 v 6 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE195559 NOTCH1 knockout endothelial cell cardiac muscle cell stem cell 2 v 7 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE164874 5 V 10 PREDNISOLONE HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE93156 idelalisib B cell 1 v 0 human dn

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE252944 AKT inhibition 10 v 15 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE151612 4 V 2 PRACINOSTAT HUMAN DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE128240 0 V 1 CYCLOPHOSPHAMIDE MOUSE DN

    Gene Set (Entity type)

    A Gene Set from LINCS

  • Gene Set

    GSE225375 CDK12 CDK13 inhibition 2 v 0 human up

    Gene Set (Entity type)

    A Gene Set from LINCS

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    Consortium
    About the CFDECF ProgramsCFDE CentersPartnershipsPilot Projects
    Community
    Workbench TutorialTraining & OutreachDocumentationGet QR CodesFunding Opportunities
    Resources
    Data & MetadataToolsChatbotUse CasesPublications
    CFDE Workbench
    Report a bug
    The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.
    @CFDE Workbench 2026
    This repository is under review for potential modification in compliance with Administration directives.