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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

FSHMD1A Locus

genetic locus   GIFtS: 13
GCID: GC04U990018

Facioscapulohumeral Muscular Dystrophy 1A


(Previous symbols: FMD, FSHD)
  See 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

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

Export aliases for FSHMD1A gene to outside databases


(According to Entrez Gene, 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 facioscapulohumeral muscular dystrophy, and 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for FSHMD1A
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Epigenetics:
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Genomic Location:
Chromosome:4   

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

GeneLoc information about chromosome 4        


(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
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Animal Models:
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(Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
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Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for FSHMD1A

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
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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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

miRNA
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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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --

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In Situ
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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)
About This Section
  --

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

(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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

Human Gene Mutation Database (HGMD): FSHMD1A
SABiosciences Cancer Mutation PCR Assays
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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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 158900    OMIM disorders: --

3 diseases for FSHMD1A:    About MalaCards
facioscapulohumeral muscular dystrophy    muscular dystrophy    myopathy


FSHMD1A for disorders           About GeneDecksing

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)
About This Section

PubMed articles for FSHMD1A gene, integrated from 9 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. (2012)
  2. [Cascade of gene activation in Landouzy Dejerine musc ular dystrophy]. (PubMed id 21166133)1 Belayew A. (2010)
  3. Fusion of EWSR1 with the DUX4 facioscapulohumeral mus cular dystrophy region resulting from t(4;22)(q35;q12) in a case of embryonal r habdomyosarcoma. (PubMed id 19837262)1 Sirvent N....Pedeutour F. (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. (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. (2003)
  6. D4F104S1 deletion in facioscapulohumeral muscular dystrophy: phenotype, size, and detection. (PubMed id 12874395)1 Lemmers R.J....Upadhyaya M. (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. (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. (1999)
  9. Facioscapulohumeral dystrophy: a distinct regional myopathy with a novel molecular pathogenesis. FSH Consortium. (PubMed id 9506542)1 Tawil R....Weiffenbach B. (1998)
  10. [Progress in researches on the molecular genetics of facioscapulohumeral muscular dystrophy] (PubMed id 11592052)9 Su Q. and Zhang C. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 2489 HGNC: 3966 euGenes: HUgn2489 ECgene: FSHMD1A H-InvDB: FSHMD1A

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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