FRG1 (Gene)

Organism:

Homo sapiens

Synonyms:ENTREZ:2483, FRG1, FRG1A, FSG1, FSHD region gene 1, HGNC:3954, MIM:601278, NM_004477, NP_004468, XM_017007958, XP_016863447, XR_002959721

Id:ENSG00000283153

Description:FSHD region gene 1 [Source:HGNC Symbol;Acc:HGNC:3954]

This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus. [provided by RefSeq, Jul 2008]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View FRG1's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with FRG1.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using FRG1.

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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 FRG1.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with FRG1.

Results found

Linked to

	Label	Description
	Hypospadias Phenotype (Entity type)	Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displa...
	Osteoporosis Phenotype (Entity type)	Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural...
	Small for gestational age Phenotype (Entity type)	Smaller than normal size according to sex and gestational age related norms, defined as a weight bel...
	Retinopathy Phenotype (Entity type)	Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wid...
	Muscular dystrophy Phenotype (Entity type)	The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary my...

Hypospadias

Phenotype (Entity type)

Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displa...

Osteoporosis

Phenotype (Entity type)

Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural...

Small for gestational age

Phenotype (Entity type)

Smaller than normal size according to sex and gestational age related norms, defined as a weight bel...

Retinopathy

Phenotype (Entity type)

Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wid...

Muscular dystrophy

Phenotype (Entity type)

The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary my...

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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.

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Resources

CFDE Workbench

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

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