Details for: FRG1

Gene ID: 2483

Symbol: FRG1

Ensembl ID: ENSG00000109536

Description: FSHD region gene 1

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: extravillous trophoblast (CL0008036)
    Fold Change: 2.56
    Marker Score: 2287
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 2.1
    Marker Score: 4443
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 1.78
    Marker Score: 3707
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 1.72
    Marker Score: 1150.5
  • Cell Name: CD8-positive, alpha-beta memory T cell (CL0000909)
    Fold Change: 1.72
    Marker Score: 1456
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 1.68
    Marker Score: 1754
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.65
    Marker Score: 1166
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 1.62
    Marker Score: 1636
  • Cell Name: myeloid dendritic cell (CL0000782)
    Fold Change: 1.6
    Marker Score: 973
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 1.59
    Marker Score: 466
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 1.58
    Marker Score: 2687.5
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.58
    Marker Score: 1053
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 1.56
    Marker Score: 1645
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 1.52
    Marker Score: 80593
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 1.51
    Marker Score: 804
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 1.49
    Marker Score: 1793.5
  • Cell Name: mature gamma-delta T cell (CL0000800)
    Fold Change: 1.48
    Marker Score: 4669
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 1.47
    Marker Score: 3994.5
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.47
    Marker Score: 773
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.45
    Marker Score: 166874
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.45
    Marker Score: 5699
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 1.44
    Marker Score: 2699
  • Cell Name: blood cell (CL0000081)
    Fold Change: 1.43
    Marker Score: 16614
  • Cell Name: classical monocyte (CL0000860)
    Fold Change: 1.43
    Marker Score: 5934.5
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 1.41
    Marker Score: 788
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 1.41
    Marker Score: 2029
  • Cell Name: alveolar macrophage (CL0000583)
    Fold Change: 1.41
    Marker Score: 36121
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.4
    Marker Score: 5188
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: 1.38
    Marker Score: 5653
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 1.37
    Marker Score: 396
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.37
    Marker Score: 76691
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 1.36
    Marker Score: 2768
  • Cell Name: radial glial cell (CL0000681)
    Fold Change: 1.36
    Marker Score: 502
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.35
    Marker Score: 1512
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 1.35
    Marker Score: 1410
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 1.34
    Marker Score: 1428
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.32
    Marker Score: 310
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.32
    Marker Score: 5698
  • Cell Name: CD8-alpha-alpha-positive, alpha-beta intraepithelial T cell (CL0000915)
    Fold Change: 1.28
    Marker Score: 1806
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 1.27
    Marker Score: 16783
  • Cell Name: Unknown (CL0002371)
    Fold Change: 1.27
    Marker Score: 1344
  • Cell Name: elicited macrophage (CL0000861)
    Fold Change: 1.26
    Marker Score: 7686
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.26
    Marker Score: 14234
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: 1.23
    Marker Score: 1280
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 1.23
    Marker Score: 1158
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 1.22
    Marker Score: 771
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 1.22
    Marker Score: 366
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.22
    Marker Score: 12313
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 1.21
    Marker Score: 16146
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 1.21
    Marker Score: 1518.5
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: 1.21
    Marker Score: 904
  • Cell Name: B-1 B cell (CL0000819)
    Fold Change: 1.19
    Marker Score: 2073
  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 1.18
    Marker Score: 669
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.18
    Marker Score: 3217
  • Cell Name: common lymphoid progenitor (CL0000051)
    Fold Change: 1.17
    Marker Score: 796
  • Cell Name: endothelial cell of uterus (CL0009095)
    Fold Change: 1.16
    Marker Score: 2315
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 1.16
    Marker Score: 1541
  • Cell Name: mature T cell (CL0002419)
    Fold Change: 1.15
    Marker Score: 11413
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 1.15
    Marker Score: 779
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 1.15
    Marker Score: 264
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.15
    Marker Score: 7459
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 1.15
    Marker Score: 2698
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: 1.15
    Marker Score: 494
  • Cell Name: papillary tips cell (CL1000597)
    Fold Change: 1.14
    Marker Score: 231
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 1.14
    Marker Score: 1571
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.14
    Marker Score: 273
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 1.14
    Marker Score: 1753
  • Cell Name: early lymphoid progenitor (CL0000936)
    Fold Change: 1.14
    Marker Score: 557
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 1.12
    Marker Score: 637
  • Cell Name: peritubular capillary endothelial cell (CL1001033)
    Fold Change: 1.12
    Marker Score: 260
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 1.12
    Marker Score: 701
  • Cell Name: epithelial cell of glomerular capsule (CL1000450)
    Fold Change: 1.11
    Marker Score: 284
  • Cell Name: alveolar capillary type 2 endothelial cell (CL4028003)
    Fold Change: 1.11
    Marker Score: 1609
  • Cell Name: promyelocyte (CL0000836)
    Fold Change: 1.11
    Marker Score: 548
  • Cell Name: Mueller cell (CL0000636)
    Fold Change: 1.1
    Marker Score: 1532
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 1.09
    Marker Score: 658
  • Cell Name: CD14-positive, CD16-positive monocyte (CL0002397)
    Fold Change: 1.09
    Marker Score: 2122
  • Cell Name: type EC enteroendocrine cell (CL0000577)
    Fold Change: 1.09
    Marker Score: 1025
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 1.08
    Marker Score: 285
  • Cell Name: exhausted T cell (CL0011025)
    Fold Change: 1.08
    Marker Score: 623
  • Cell Name: type A enteroendocrine cell (CL0002067)
    Fold Change: 1.08
    Marker Score: 435
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 1.08
    Marker Score: 1160
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: 1.07
    Marker Score: 2956
  • Cell Name: bronchial epithelial cell (CL0002328)
    Fold Change: 1.07
    Marker Score: 283
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: 1.07
    Marker Score: 1892
  • Cell Name: Unknown (CL0000548)
    Fold Change: 1.07
    Marker Score: 777
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.05
    Marker Score: 260
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 1.05
    Marker Score: 494
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 1.05
    Marker Score: 1009
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.04
    Marker Score: 574
  • Cell Name: common dendritic progenitor (CL0001029)
    Fold Change: 1.04
    Marker Score: 358
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 1.03
    Marker Score: 3063
  • Cell Name: double-positive, alpha-beta thymocyte (CL0000809)
    Fold Change: 1.03
    Marker Score: 2019
  • Cell Name: late pro-B cell (CL0002048)
    Fold Change: 1.02
    Marker Score: 1207
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.02
    Marker Score: 8793
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 1.02
    Marker Score: 678
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 1.02
    Marker Score: 507
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 1.01
    Marker Score: 35147
  • Cell Name: memory regulatory T cell (CL0002678)
    Fold Change: 1.01
    Marker Score: 353
  • Cell Name: erythroid progenitor cell, mammalian (CL0001066)
    Fold Change: 1.01
    Marker Score: 324

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Other Information

**Key characteristics:** * The FRG1 gene is located on chromosome 17q21.1. * It is a large gene (1.18 Mb) with 11 exons and 13 intronic regions. * The protein encoded by the FRG1 gene is a transmembrane protein with a molecular weight of approximately 160 kDa. **Pathways and functions:** * The FRG1 gene is involved in the regulation of striated muscle development. * It is a key regulator of the expression of other genes involved in striated muscle development, such as SMN, SMU, and MYH. * Mutations in the FRG1 gene have been linked to several human genetic disorders, including Marfan syndrome, Angelman syndrome, and facioscapuliform dwarfism. **Clinical significance:** * Mutations in the FRG1 gene have been linked to several human genetic disorders, including Marfan syndrome, Angelman syndrome, and facioscapuliform dwarfism. * The FRG1 gene is a potential therapeutic target for these disorders. * Studies of the FRG1 gene have also been used to develop new diagnostic tools for these disorders.

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 EPD 1 Ensembl 4 ExpressionAtlas 1 GO 10 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyGen 1 HGNC 2 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 3 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. For the full schema, download it here.