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FSHMD1A Locus

genetic locus   GIFtS: 13
GCID: GC04U990018

Facioscapulohumeral Muscular Dystrophy 1A


(Previous symbols: FMD, FSHD)
  See FSHMD1A-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Facioscapulohumeral Muscular Dystrophy 1A1 2
FMD1 2
FSHD1 2
FSHD1A2 5
FSHMD2
FSHD15

External Ids:    HGNC: 39661   Entrez Gene: 24892   OMIM: 1589005   

Export aliases for FSHMD1A gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for FSHMD1A Gene:
Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary disease of muscle. Patients with FSHD have a
chromosomal rearrangement within the subtelomeric region of chromosome 4 (4q35). This region is composed mainly
of a polymorphic repeat structure consisting of 3.3 kb repeat units, designated D4Z4. The number of repeat units
varies from 10 to more than 100 in the population, however, in FSHD patients only 1-10 repeat units is observed
because of a deletion of an integral number of these units. FSHD is caused by an epigenetic mechanism involving
the contraction of a subtelomeric macrosatellite repeat, which results in marked hypomethylation of the
contracted D4Z4 allele. It is likely not the structure, but the deregulation of transcription of one or more
genes as a result of repeat-contraction-mediated chromatin alterations, that causes FSHD. (provided by RefSeq,
Sep 2011)

GeneCards Summary for FSHMD1A Gene:
FSHMD1A (facioscapulohumeral muscular dystrophy 1A) is a genetic locus. Diseases associated with FSHMD1A include embryonal rhabdomyosarcoma, and facioscapulohumeral muscular dystrophy.




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Search for regulatory transcription factor binding sites for FSHMD1A
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FSHMD1A


Genomic Location:
Chromosome:4   

Entrez Gene cytogenetic band: 4q35   HGNC cytogenetic band: 4q35

GeneLoc information about chromosome 4        


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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  --

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

FSHMD1A Protein expression data from MOPED1, PaxDb2 and MaxQB3 --
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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  --

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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  --

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Human Gene Mutation Database (HGMD): FSHMD1A
Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing FSHMD1A
DNA2.0 Custom Variant and Variant Library Synthesis for FSHMD1A

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 158900    OMIM disorders: --

3 diseases for FSHMD1A:    
About MalaCards
embryonal rhabdomyosarcoma    facioscapulohumeral muscular dystrophy    muscular dystrophy


Find genes that share disorders with FSHMD1A           About GenesLikeMe

1 Novoseek inferred disease relationship for FSHMD1A gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
muscular dystrophy facioscapulohumeral 92.4 3 8094896 (1), 7903581 (1), 7910579 (1)


Export disorders for FSHMD1A gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for FSHMD1A gene, integrated from 10 sources (see all 14):
(articles sorted by number of sources associating them with FSHMD1A)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy. (PubMed id 22541069)1 Cabianca D.S....Gabellini D. (Cell 2012)
  2. [Cascade of gene activation in Landouzy Dejerine muscular dystrophy]. (PubMed id 21166133)1 Belayew A. (Bull. Mem. Acad. R. Med. Belg. 2010)
  3. Fusion of EWSR1 with the DUX4 facioscapulohumeral muscular dystrophy region resulting from t(4;22)(q35;q12) in a case of embryonal rhabdomyosarcoma. (PubMed id 19837262)1 Sirvent N....Pedeutour F. (Cancer Genet. Cytogenet. 2009)
  4. The 4q subtelomere harboring the FSHD locus is specifically anchored with peripheral heterochromatin unlike most human telomeres. (PubMed id 15504910)1 Tam R....Lawrence J.B. (J. Cell Biol. 2004)
  5. Expression profiling of FSHD muscle supports a defect in specific stages of myogenic differentiation. (PubMed id 14519683)1 Winokur S.T....Flanigan K.M. (Hum. Mol. Genet. 2003)
  6. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. (PubMed id 12874395)1 Lemmers R.J....Upadhyaya M. (Neurology 2003)
  7. Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q. (PubMed id 14506132)1 Jiang G....Ehrlich M. (Hum. Mol. Genet. 2003)
  8. The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements. (PubMed id 10512680)1 van Geel M....de Jong P.J. (Genomics 1999)
  9. Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium. (PubMed id 9506542)1 Tawil R....Weiffenbach B. (Ann. Neurol. 1998)
  10. [Progress in researches on the molecular genetics of facioscapulohumeral muscular dystrophy]. (PubMed id 11592052)9 Su Q. and Zhang C. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Disorders
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2489 HGNC: 3966 euGenes: HUgn2489 ECgene: FSHMD1A H-InvDB: FSHMD1A

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for FSHMD1A Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for FSHMD1A gene:
Search GeneIP for patents involving FSHMD1A

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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