FRG1 (FSHD region gene 1)

Gene

• Entrez ID: 2483
• Gene name: FSHD region gene 1
• Gene symbol: FRG1
• Synonyms (NCBI Gene): FRG1A, FSG1
• Chromosome: 4
• Chromosome location: 4q35.2
• Summary: 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 seque

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005215	hsa-miR-30a-5p	pSILAC	18668040
MIRT023829	hsa-miR-1-3p	Proteomics	18668040
MIRT005215	hsa-miR-30a-5p	Proteomics;Other	18668040
MIRT1004374	hsa-miR-124	CLIP-seq
MIRT1004375	hsa-miR-3714	CLIP-seq
MIRT1004376	hsa-miR-3910	CLIP-seq
MIRT1004377	hsa-miR-4668-3p	CLIP-seq
MIRT1004378	hsa-miR-506	CLIP-seq
MIRT1004379	hsa-miR-548c-3p	CLIP-seq
MIRT1004380	hsa-miR-605	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IC	11991638
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003723	Function	RNA binding	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005515	Function	Protein binding	IPI	22365833, 25416956, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005681	Component	Spliceosomal complex	IEA
GO:0005730	Component	Nucleolus	IBA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006364	Process	RRNA processing	IEA
GO:0006397	Process	MRNA processing	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0008380	Process	RNA splicing	IEA
GO:0015030	Component	Cajal body	IEA
GO:0030018	Component	Z disc	IEA
GO:0042254	Process	Ribosome biogenesis	IEA
GO:0051015	Function	Actin filament binding	IBA
GO:0055120	Component	Striated muscle dense body	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IBA
GO:0071013	Component	Catalytic step 2 spliceosome	IDA	11991638

Other IDs

• MIM: 601278
• HGNC: 3954
• e!Ensembl: ENSG00000109536

Protein

• UniProt ID: Q14331
• Protein name: Protein FRG1 (FSHD region gene 1 protein)
• Protein function: Binds to mRNA in a sequence-independent manner. May play a role in regulation of pre-mRNA splicing or in the assembly of rRNA into ribosomal subunits. May be involved in mRNA transport. May be involved in epigenetic regulation of muscle differen
• PDB: 6ZYM, 7A5P, 8I0W
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06229	FRG1	67 → 256	FRG1-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in adult muscle, lymphocytes, fetal brain, muscle, and placenta. Also expressed in the smooth muscle of arteries and veins, the sweat glands and the epidermis. {ECO:0000269|PubMed:20970242}.
• Sequence:

  MAEYSYVKSTKLVLKGTKTKSKKKKSKDKKRKREEDEETQLDIVGIWWTVTNFGEISGTI
  AIEMDKGTYIHALDNGLFTLGAPHKEVDEGPSPPEQFTAVKLSDSRIALKSGYGKYLGIN
  SDGLVVGRSDAIGPREQWEPVFQNGKMALLASNSCFIRCNEAGDIEAKSKTAGEEEMIKI
  RSCAERETKKKDDIPEEDKGNVKQCEINYVKKFQSFQDHKLKISKEDSKILKKARKDGFL
  HETLLDRRAKLKADRYCK

• Sequence length: 258

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Pulmonary artery atresia	Pathogenic	rs17425208	RCV002510600	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Adrenocortical carcinoma, hereditary	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CIC-rearranged sarcoma	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ATRESIA OF PULMONARY ARTERY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIOSCAPULOHUMERAL DYSTROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1	—	ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1A	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRG1-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; not provided	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	30975102		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	34795329	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34795329, 36521634	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	28947680	Inhibit	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	26645620		★☆☆☆☆ Found in Text Mining only
External Ophthalmoplegia	External Ophthalmoplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Facioscapulohumeral dystrophy	Facioscapulohumeral Dystrophy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Facioscapulohumeral muscular dystrophy 1a	Facioscapulohumeral Muscular Dystrophy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	36653483	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36653483	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30975102		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29571661		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	BEFREE	28947680		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	16341202, 19097195, 9166581		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Facioscapulohumeral	Facioscapulohumeral muscular dystrophy	Pubtator	18852887, 19607661, 19809486	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	BEFREE	16341202, 17103222, 17151338, 19097195, 19607661, 19888305, 20215405, 20490329, 20970242, 21730972, 21829175, 23300487, 25326393, 25695429, 26942723, 28569257, 28947680, 8733123, 9132141, 9166581, 9714712		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Facioscapulohumeral	Facioscapulohumeral Muscular Dystrophy	ORPHANET_DG	23300487, 23525014, 23720823		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Scapulohumeral	Muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	20215405, 21730972		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	17103222		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30975102		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30975102	Inhibit	★☆☆☆☆ Found in Text Mining only
Retinal telangiectasia	Retinal telangiectasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinopathy of Prematurity	Retinopathy of prematurity	Pubtator	40084286	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Serous retinal detachment	Serous Retinal Detachment	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34795329	Associate	★☆☆☆☆ Found in Text Mining only