Details for: FRG1

Gene ID: 2483

Symbol: FRG1

Ensembl ID: ENSG00000109536

Description: FSHD region gene 1

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 162.8787
    Cell Significance Index: -25.3400
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 117.7638
    Cell Significance Index: -29.8700
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 92.6089
    Cell Significance Index: -38.1500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 90.7180
    Cell Significance Index: -42.8300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 88.1708
    Cell Significance Index: -35.8200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 78.4918
    Cell Significance Index: -40.3800
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 64.0664
    Cell Significance Index: -42.9900
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 38.0102
    Cell Significance Index: -36.2900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 29.8916
    Cell Significance Index: -36.8600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 11.3332
    Cell Significance Index: -30.3600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 9.9923
    Cell Significance Index: -39.4300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 9.1976
    Cell Significance Index: -28.2500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 6.6024
    Cell Significance Index: -14.4500
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 4.1977
    Cell Significance Index: 35.2600
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.4334
    Cell Significance Index: 11.4500
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 1.2727
    Cell Significance Index: 9.8100
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.1923
    Cell Significance Index: 163.7400
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.0970
    Cell Significance Index: 485.0300
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.9882
    Cell Significance Index: 25.9900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.9806
    Cell Significance Index: 120.5800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.9790
    Cell Significance Index: 69.2400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.8539
    Cell Significance Index: 109.4600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.8173
    Cell Significance Index: 52.7300
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.7975
    Cell Significance Index: 14.7400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7864
    Cell Significance Index: 141.7600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.7782
    Cell Significance Index: 702.6200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.7119
    Cell Significance Index: 37.3800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5875
    Cell Significance Index: 37.0300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.5859
    Cell Significance Index: 30.5200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.5730
    Cell Significance Index: 26.9300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5721
    Cell Significance Index: 312.4300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.5554
    Cell Significance Index: 19.3000
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.5336
    Cell Significance Index: 62.9300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.5035
    Cell Significance Index: 10.5400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.4635
    Cell Significance Index: 21.6100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.4563
    Cell Significance Index: 12.4200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.4116
    Cell Significance Index: 53.1700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.4075
    Cell Significance Index: 30.3700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3981
    Cell Significance Index: 79.8600
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3344
    Cell Significance Index: 33.0800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.3002
    Cell Significance Index: 3.4100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2139
    Cell Significance Index: 40.7000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.2079
    Cell Significance Index: 2.2600
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.1723
    Cell Significance Index: 28.0300
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1703
    Cell Significance Index: 61.0800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1505
    Cell Significance Index: 25.7000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1244
    Cell Significance Index: 5.6400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.1020
    Cell Significance Index: 5.3000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0802
    Cell Significance Index: 15.9300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0748
    Cell Significance Index: 4.2000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.0353
    Cell Significance Index: 0.3200
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.0273
    Cell Significance Index: 1.3800
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.0140
    Cell Significance Index: 0.1500
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0136
    Cell Significance Index: 9.9500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0011
    Cell Significance Index: 2.1200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0004
    Cell Significance Index: -0.3200
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0049
    Cell Significance Index: -0.1300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0053
    Cell Significance Index: -9.7700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0083
    Cell Significance Index: -12.7900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0143
    Cell Significance Index: -0.2400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0231
    Cell Significance Index: -31.4300
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0303
    Cell Significance Index: -19.2300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0352
    Cell Significance Index: -26.0600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0496
    Cell Significance Index: -5.0700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0538
    Cell Significance Index: -24.4000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0609
    Cell Significance Index: -34.3400
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0688
    Cell Significance Index: -1.5900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0769
    Cell Significance Index: -48.0500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0792
    Cell Significance Index: -9.0700
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.1017
    Cell Significance Index: -2.9200
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1211
    Cell Significance Index: -3.8800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1249
    Cell Significance Index: -3.1900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1447
    Cell Significance Index: -41.6300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1473
    Cell Significance Index: -17.1700
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.1631
    Cell Significance Index: -4.7900
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1718
    Cell Significance Index: -24.9800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1873
    Cell Significance Index: -6.5800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1997
    Cell Significance Index: -42.0600
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.2030
    Cell Significance Index: -22.0800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.2317
    Cell Significance Index: -3.9700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.2441
    Cell Significance Index: -18.7300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2709
    Cell Significance Index: -5.8700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3008
    Cell Significance Index: -23.8300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.3127
    Cell Significance Index: -13.8300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.3449
    Cell Significance Index: -9.6400
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.3789
    Cell Significance Index: -39.4500
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.3991
    Cell Significance Index: -7.7900
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.4001
    Cell Significance Index: -15.1500
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.4280
    Cell Significance Index: -3.4900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.4318
    Cell Significance Index: -12.4400
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.4334
    Cell Significance Index: -5.5500
  • Cell Name: theca cell (CL0000503)
    Fold Change: -0.4443
    Cell Significance Index: -2.6100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.4754
    Cell Significance Index: -10.4100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.5057
    Cell Significance Index: -6.9000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.5208
    Cell Significance Index: -15.3400
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.5365
    Cell Significance Index: -21.9800
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.5760
    Cell Significance Index: -3.4800
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.5987
    Cell Significance Index: -10.5800
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.6281
    Cell Significance Index: -13.4300
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: -0.6306
    Cell Significance Index: -6.7000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** FRG1 is a non-coding gene, meaning it does not encode a protein sequence. Instead, it is involved in the regulation of gene expression through various mechanisms, including splicing and RNA binding. Its expression is widespread, with significant presence in cells derived from different tissues, including muscle, immune cells, and epithelial cells. The gene is also associated with several cellular structures, such as Cajal bodies, nucleoli, and the striated muscle dense body. **Pathways and Functions:** FRG1 is involved in multiple cellular pathways, including: 1. **RNA processing**: FRG1 plays a crucial role in RNA splicing, specifically through the 2' spliceosome pathway. This process is essential for the removal of introns and the joining of exons to form a mature RNA molecule. 2. **Muscle development**: FRG1 is highly expressed in skeletal muscle satellite cells, which are responsible for muscle regeneration and growth. The gene is also involved in the development of striated muscle dense bodies, which are essential for muscle function. 3. **Protein binding**: FRG1 interacts with various proteins, including those involved in muscle development, RNA processing, and cell signaling. 4. **Cellular localization**: FRG1 is localized to specific cellular structures, such as Cajal bodies, nucleoli, and the striated muscle dense body. **Clinical Significance:** While FRG1 is not directly associated with any specific disease, its dysregulation has been implicated in various conditions, including: 1. **Frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17)**: Mutations in FRG1 have been identified in individuals with FTDP-17, a neurodegenerative disorder characterized by progressive dementia and motor dysfunction. 2. **Muscle disorders**: FRG1 expression is altered in individuals with certain muscle disorders, such as muscular dystrophy and myositis. 3. **Cancer**: FRG1 has been implicated in the development and progression of various cancers, including leukemia and lymphoma. In conclusion, FRG1 is a complex gene with multiple functions and implications in human physiology and disease. Further research is necessary to fully elucidate the mechanisms by which FRG1 regulates gene expression and its role in various cellular processes.

Genular Protein ID: 2182910564

Symbol: FRG1_HUMAN

Name: FSHD region gene 1 protein

UniProtKB Accession Codes:

Q14331 A8K775

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CORUM 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 5 EMDB 1 Ensembl 4 ExpressionAtlas 1 GO 10 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8733123

Title: Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.

PubMed ID: 8733123

DOI: 10.1093/hmg/5.5.581

PubMed ID: 10512680

Title: The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements.

PubMed ID: 10512680

DOI: 10.1006/geno.1999.5942

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11991638

Title: Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis.

PubMed ID: 11991638

DOI: 10.1017/s1355838202021088

PubMed ID: 15060122

Title: FRG1P is localised in the nucleolus, Cajal bodies, and speckles.

PubMed ID: 15060122

DOI: 10.1136/jmg2003.012781

PubMed ID: 16341202

Title: Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1.

PubMed ID: 16341202

DOI: 10.1038/nature04422

PubMed ID: 17103222

Title: FRG1P-mediated aggregation of proteins involved in pre-mRNA processing.

PubMed ID: 17103222

DOI: 10.1007/s00412-006-0083-3

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 20970242

Title: Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein.

PubMed ID: 20970242

DOI: 10.1016/j.diff.2010.09.185

PubMed ID: 21699900

Title: Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein.

PubMed ID: 21699900

DOI: 10.1016/j.jmb.2011.06.014

PubMed ID: 23720823

Title: FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis.

PubMed ID: 23720823

DOI: 10.1093/jmcb/mjt018

Sequence Information:

  • Length: 258
  • Mass: 29172
  • Checksum: FFBC981B7602BDB3
  • Sequence:
    • MAEYSYVKST KLVLKGTKTK SKKKKSKDKK RKREEDEETQ LDIVGIWWTV TNFGEISGTI 
AIEMDKGTYI HALDNGLFTL GAPHKEVDEG PSPPEQFTAV KLSDSRIALK SGYGKYLGIN 
SDGLVVGRSD AIGPREQWEP VFQNGKMALL ASNSCFIRCN EAGDIEAKSK TAGEEEMIKI 
RSCAERETKK KDDIPEEDKG NVKQCEINYV KKFQSFQDHK LKISKEDSKI LKKARKDGFL 
HETLLDRRAK LKADRYCK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.