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

FUS Gene

protein-coding   GIFtS: 69
GCID: GC16P031191

Fused In Sarcoma

(Previous names: fusion, derived from t(12;16) malignant liposarcoma, amyotrophic...)
(Previous symbol: ALS6)
Alzheimer's & Parkinson's Diseases Congress
  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)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Fused In Sarcoma1 2     Fusion, Derived From T(12;16) Malignant Liposarcoma1
ALS61 2 5     Translocated In Liposarcoma1
TLS2 3 5     ETM42
Heterogeneous Nuclear Ribonucleoprotein P21 2     FUS12
Oncogene FUS2 3     HNRNPP22
Oncogene TLS2 3     POMP752
Translocated In Liposarcoma Protein2 3     Fus-Like Protein2
75 KDa DNA-Pairing Protein2 3     Fusion Gene In Myxoid Liposarcoma2
Amyotrophic Lateral Sclerosis 61     RNA-Binding Protein FUS2
Fusion (Involved In T(12;16) In Malignant Liposarcoma)1     POMp753

External Ids:    HGNC: 40101   Entrez Gene: 25212   Ensembl: ENSG000000892807   OMIM: 1370705   UniProtKB: P356373   
ORGUL members:         
NONCODE14:n408227      

Export aliases for FUS gene to outside databases

Previous GC identifers: GC16P030273 GC16P031688 GC16P031188 GC16P031227 GC16P031098 GC16P028753


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for FUS Gene:
This gene encodes a multifunctional protein component of the heterogeneous nuclear ribonucleoprotein (hnRNP)
complex. The hnRNP complex is involved in pre-mRNA splicing and the export of fully processed mRNA to the
cytoplasm. This protein belongs to the FET family of RNA-binding proteins which have been implicated in cellular
processes that include regulation of gene expression, maintenance of genomic integrity and mRNA/microRNA
processing. Alternative splicing results in multiple transcript variants. Defects in this gene result in
amyotrophic lateral sclerosis type 6. (provided by RefSeq, Sep 2009)

GeneCards Summary for FUS Gene: 
FUS (fused in sarcoma) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with FUS include liposarcoma, and myxoid liposarcoma, and among its related super-pathways are mRNA Processing and Generic Transcription Pathway. GO annotations related to this gene include RNA binding and nucleotide binding. An important paralog of this gene is TAF15.

UniProtKB/Swiss-Prot: FUS_HUMAN, P35637
Function: Binds both single-stranded and double-stranded DNA and promotes ATP-independent annealing of
complementary single-stranded DNAs and D-loop formation in superhelical double-stranded DNA. May play a role in
maintenance of genomic integrity

Gene Wiki entry for FUS Gene


(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
RefSeq DNA sequence:
NC_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FUS gene promoter:
         NRSF form 1   FOXO1a   STAT5A   NRSF form 2   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFUS promoter sequence
   Search SABiosciences Chromatin IP Primers for FUS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat FUS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

FUS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FUS gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P031191:  view genomic region     (about GC identifiers)

Start:
31,191,431 bp from pter      End:
31,206,192 bp from pter
Size:
14,762 bases      Orientation:
plus strand

(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.)
About This Section

UniProtKB/Swiss-Prot: FUS_HUMAN, P35637 (See protein sequence)
Recommended Name: RNA-binding protein FUS  
Size: 526 amino acids; 53426 Da
Subunit: Component of nuclear riboprotein complexes. Interacts with ILF3, TDRD3 and SF1. Interacts through its
C-terminus with SFRS13A. Interacts with OTUB1 and SARNP
Subcellular location: Nucleus
3 PDB 3D structures from and Proteopedia for FUS:
2LA6 (3D)        2LCW (3D)        4FDD (3D)    
Secondary accessions: Q9H4A8
Alternative splicing: 2 isoforms:  P35637-1   P35637-2   

Explore the universe of human proteins at neXtProt for FUS: NX_P35637

Explore proteomics data for FUS at MOPED 

Post-translational modifications:

  • UniProtKB: Arg-216 and Arg-218 are dimethylated, probably to asymmetric dimethylarginine
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P35637

  • FUS Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    FUS Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001164105.1  NP_001164408.1  NP_004951.1  

    ENSEMBL proteins: 
     ENSP00000254108   ENSP00000455073   ENSP00000369594   ENSP00000455282  
    Reactome Protein details: P35637
    Human Recombinant Protein Products for FUS: 
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    Cloud-Clone Corp. Proteins for FUS 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IEA--

    FUS for ontologies           About GeneDecksing



    FUS Antibody Products: 
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    Assay Products for FUS: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    RBM: RNA binding motif (RRM) containing

    3 InterPro protein domains:
     IPR012677 Nucleotide-bd_a/b_plait
     IPR001876 Znf_RanBP2
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry P35637

    ProtoNet protein and cluster: P35637

    2 Blocks protein domains:
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB001876 Zn-finger


    UniProtKB/Swiss-Prot: FUS_HUMAN, P35637
    Similarity: Belongs to the RRM TET family
    Similarity: Contains 1 RanBP2-type zinc finger
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    FUS for domains           About GeneDecksing


    (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.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FUS_HUMAN, P35637
    Function: Binds both single-stranded and double-stranded DNA and promotes ATP-independent annealing of
    complementary single-stranded DNAs and D-loop formation in superhelical double-stranded DNA. May play a role in
    maintenance of genomic integrity

         Genatlas biochemistry entry for FUS:
    RNA binding protein,highly homologous to EWS1,glycine-rich,regulator of BCR/ABL-mediated leukemogenesis,rearranged
    in myxoid liposarcoma with translocation t(12;16) and in myeloid leukemia with translocation t(16;21)(q13;p11)

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003677DNA binding IEA--
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI18954305
         
    FUS for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for FUS:
     Decreased influenza A virus in  Increased cell number in G2M,  

         9 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Fus):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size  hematopoietic system 
     immune system  mortality/aging  nervous system  reproductive system 

    FUS for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for FUS 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for FUS

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for FUS 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FUS 

    miRNA
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    miRTarBase miRNAs that target FUS:
    hsa-mir-197 (MIRT004196)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat FUS
    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate FUS (see all 17):
    hsa-miR-320a hsa-miR-520d-5p hsa-miR-202 hsa-miR-200a hsa-miR-3916 hsa-miR-3125 hsa-miR-4275 hsa-miR-141
    SwitchGear 3'UTR luciferase reporter plasmidFUS 3' UTR sequence
    Inhib. RNA
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                         Customized lentivirus expression plasmids for stable overexpression of FUS 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FUS


    (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).
    About This Section

    SuperPaths for FUS About                                                                                                See pathways by source

    SuperPathContained pathways About
    1mRNA Splicing - Major Pathway
    Processing of Capped Intron-Containing Pre-mRNA0.85
    mRNA Splicing0.82
    mRNA Processing0.85
    mRNA processing0.46
    mRNA Splicing - Major Pathway0.82
    2Generic Transcription Pathway
    Gene Expression0.47
    3Transcriptional misregulation in cancer
    Transcriptional misregulation in cancer
    4Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation
    5Translational Control
    Translational Control

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for FUS
        Chromatin Regulation / Acetylation
    Translational Control

    1 BioSystems Pathway for FUS
        mRNA processing

    5        Reactome Pathways for FUS
        mRNA Splicing - Major Pathway
    mRNA Splicing
    Gene Expression
    mRNA Processing
    Processing of Capped Intron-Containing Pre-mRNA


    1         Kegg Pathway  (Kegg details for FUS):
        Transcriptional misregulation in cancer


    FUS for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FUS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/937 Interacting proteins for FUS (P356371, 2, 3 ENSP000002541084) via UniProtKB, MINT, STRING, and/or I2D (see all 937)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SRRM1Q8IYB32, 3, ENSP000003262614MINT-7945693 MINT-7947479 I2D: score=3 STRING: ENSP00000326261
    ZMYM2Q9UBW72, 3, ENSP000003723224MINT-62324 MINT-62321 I2D: score=3 STRING: ENSP00000372322
    PTBP1P265992, 3, ENSP000003494284MINT-7945693 MINT-7947479 I2D: score=2 STRING: ENSP00000349428
    SF3A2Q154282, 3, ENSP000002214944MINT-5206070 MINT-7947479 I2D: score=1 STRING: ENSP00000221494
    SRSF10O754942, 3, ENSP000004201954MINT-15493 I2D: score=4 STRING: ENSP00000420195
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0008219cell death IEA--
    GO:0008380RNA splicing TAS--
    GO:0010467gene expression TAS--

    FUS for ontologies           About GeneDecksing



    (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)
    About This Section

    FUS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for FUS

    2 Novoseek inferred chemical compound relationships for FUS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leucine 24.4 2 7987849 (1)
    zinc 0 2 12594223 (2)

    Search CenterWatch for drugs/clinical trials and news about FUS

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    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

    REFSEQ mRNAs for FUS gene (4 alternative transcripts): 
    NM_001170634.1  NM_001170937.1  NM_004960.3  NM_001010850.1  

    Unigene Cluster for FUS:

    Fused in sarcoma
    Hs.46894  [show with all ESTs]
    Unigene Representative Sequence: NM_004960
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254108(uc002ebh.3 uc002ebe.2 uc002ebf.3 uc002ebg.3)
    ENST00000566605 ENST00000487045(uc010vfi.2) ENST00000380244 ENST00000487509
    ENST00000568685 ENST00000487974 ENST00000570090 ENST00000474990(uc010caj.1)
    ENST00000568901 ENST00000564766 ENST00000569760 ENST00000483853

    miRNA
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    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate FUS (see all 17):
    hsa-miR-320a hsa-miR-520d-5p hsa-miR-202 hsa-miR-200a hsa-miR-3916 hsa-miR-3125 hsa-miR-4275 hsa-miR-141
    SwitchGear 3'UTR luciferase reporter plasmidFUS 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AJ301611.1 AJ301612.1 AK098774.1 AK130774.1 AK290936.1 AK299129.1 AK301110.1 BC000402.2 
    BC002459.1 BC026062.2 BC051293.1 BT007131.1 CR456747.1 GU933437.1 NR_028388.2 S62140.1 
    U36561.1 X71428.1 

    24/57 DOTS entries (see all 57):

    DT.448733  DT.100876813  DT.95338699  DT.95305442  DT.100876818  DT.100876810  DT.92413530  DT.40119887 
    DT.219776  DT.95291133  DT.100876827  DT.120687296  DT.100798892  DT.120687278  DT.120687255  DT.100876817 
    DT.120687153  DT.120687164  DT.120687284  DT.40217294  DT.95190305  DT.100761904  DT.102840280  DT.75128804 

    24/933 AceView cDNA sequences (see all 933):

    AA723724 BQ066751 BM463399 BI260207 BM824813 CR618104 BQ070184 BI756931 
    AI151164 T06961 AL565673 BM808572 AA992828 AI655141 AA988781 BE613463 
    CR616248 W02207 BC002459 AA383497 CR602284 BM471477 BU730311 T32210 

    GeneLoc Exon Structure


    (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

    FUS expression in normal human tissues (normalized intensities)      FUS embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGGGTAACT
    FUS Expression
    About this image


    FUS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/37 selected tissues (see all 37) fully expand
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus
             uterus, post-menopause ; glandular cells   
     
     Testis (Reproductive System)    fully expand to see all 4 entries
             Leydig Cells Testis Interstitium
             seminal vesicle ; glandular cells   
     
     Colon (Gastrointestinal Tract)    fully expand to see all 4 entries
             colon ; peripheral nerve/ganglion   
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex

    See FUS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FUS

    SOURCE GeneReport for Unigene cluster: Hs.46894

    UniProtKB/Swiss-Prot: FUS_HUMAN, P35637
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Arrays including FUS: 
              Neurotrophins & Receptors in human mouse rat
              Necrosis in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FUS

    (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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for FUS gene from 10/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fus1 , 5 fusion, derived from t(12;16) malignant liposarcoma more1, 5 90.14(n)1
    97.47(a)1
      7 (69.87 cM)5
    2339081  NM_139149.21  NP_631888.11 
     1279674575 
    chicken
    (Gallus gallus)
    Aves FUS1 fused in sarcoma 72.01(n)
    82.55(a)
      414144  NM_001001531.1  NP_001001531.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    83(a)
    possible ortholog
    GL343220.1(2260486-2273600)
    African clawed frog
    (Xenopus laevis)
    Amphibia fus-prov2 fusion, derived from t(12;16) malignant liposarcoma more 78.63(n)    BC044319.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc563902 similar to pigpen 73.03(n)   394058  BC049308.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta caz1 cabeza 56.36(n)
    54.62(a)
      32587  NM_078641.3  NP_523365.2 
    worm
    (Caenorhabditis elegans)
    Secernentea fust-11 Protein FUST-1 49.05(n)
    46.59(a)
      174175  NM_063082.3  NP_495483.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GAR16
    Protein component of the H/ACA snoRNP pseudouridyl...
    17(a)
    1 → many
    VIII(282681-283298)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons TAF15b1 TBP-associated factor 15B 44.34(n)
    37(a)
      835960  NM_180884.1  NP_851215.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g01644001 hypothetical protein 48.21(n)
    41.92(a)
      4324412  NM_001048636.1  NP_001042101.1 


    ENSEMBL Gene Tree for FUS (if available)
    TreeFam Gene Tree for FUS (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FUS gene
    TAF152  EWSR12  
    3 SIMAP similar genes for FUS using alignment to 5 protein entries:     FUS_HUMAN (see all proteins):
    TAF15    EWSR1    RBM3

    FUS for paralogs           About GeneDecksing



    (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

    10/540 SNPs in FUS are shown (see all 540)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0548434
    Amyotrophic lateral sclerosis 6 (ALS6)4--see VAR_0548432 R C mis40--------
    VAR_0548404
    Amyotrophic lateral sclerosis 6 (ALS6)4--see VAR_0548402 G C mis40--------
    VAR_0548484
    Amyotrophic lateral sclerosis 6 (ALS6)4--see VAR_0548482 R T mis40--------
    VAR_0689194
    Tremor, hereditary essential 4 (ETM4)4--see VAR_0689192 R C mis40--------
    VAR_0689204
    Amyotrophic lateral sclerosis 6 (ALS6)4--see VAR_0689202 G V mis40--------
    VAR_0548454
    Amyotrophic lateral sclerosis 6 (ALS6)4--see VAR_0548452 R H mis40--------
    VAR_0354814
    A breast cancer sample4--see VAR_0354812 K Q mis40--------
    VAR_0548444
    Amyotrophic lateral sclerosis 6 (ALS6)4--see VAR_0548442 R G mis40--------
    VAR_0689184
    Amyotrophic lateral sclerosis 6 (ALS6)4--see VAR_0689182 G S mis40--------
    VAR_0548394
    Amyotrophic lateral sclerosis 6 (ALS6)4--see VAR_0548392 R S mis40--------

    HapMap Linkage Disequilibrium report for FUS (31191431 - 31206192 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for FUS:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv905729CNV Loss21882294
    dgv2670n71CNV Loss21882294
    nsv457483CNV Loss19166990
    dgv2672n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): FUS

    Locus Specific Mutation Databases (LSDB): FUS
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing FUS
    DNA2.0 Custom Variant and Variant Library Synthesis for FUS

    (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: 137070   
    OMIM disorders: 608030  
    UniProtKB/Swiss-Prot: FUS_HUMAN, P35637
  • Note=A chromosomal aberration involving FUS is found in a patient with malignant myxoid liposarcoma.
    Translocation t(12;16)(q13;p11) with DDIT3
  • Note=A chromosomal aberration involving FUS is a cause of acute myeloid leukemia (AML). Translocation
    t(16;21)(p11;q22) with ERG
  • Angiomatoid fibrous histiocytoma (AFH) [MIM:612160]: A distinct variant of malignant fibrous histiocytoma
    that typically occurs in children and adolescents and is manifest by nodular subcutaneous growth. Characteristic
    microscopic features include lobulated sheets of histiocyte-like cells intimately associated with areas of
    hemorrhage and cystic pseudovascular spaces, as well as a striking cuffing of inflammatory cells, mimicking a
    lymph node metastasis. Note=The disease may be caused by mutations affecting the gene represented in this entry.
    A chromosomal aberration involving FUS is found in a patient with angiomatoid fibrous histiocytoma. Translocation
    t(12;16)(q13;p11.2) with ATF1 generates a chimeric FUS/ATF1 protein
  • Amyotrophic lateral sclerosis 6 (ALS6) [MIM:608030]: A neurodegenerative disorder affecting upper motor
    neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis.
    Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal
    tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and
    deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be
    multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Tremor, hereditary essential 4 (ETM4) [MIM:614782]: A common movement disorder mainly characterized by
    postural tremor of the arms. Head, legs, trunk, voice, jaw, and facial muscles also may be involved. The
    condition can be aggravated by emotions, hunger, fatigue and temperature extremes, and may cause a functional
    disability or even incapacitation. Inheritance is autosomal dominant. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 20/46 diseases for FUS (see all 46):    About MalaCards
    liposarcoma    myxoid liposarcoma    mixed-type liposarcoma    amyotrophic lateral sclerosis type 6
    tremor, hereditary essential 4    amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia    fus-related amyotrophic lateral sclerosis    myxofibrosarcoma
    anomalous atrioventricular excitation    pleomorphic liposarcoma    spondylolysis    amyotrophic lateral sclerosis
    lateral sclerosis    acute myeloid leukemia with t translocation    myxoid chondrosarcoma    extraskeletal myxoid chondrosarcoma
    histiocytoma    chondrosarcoma    peripheral primitive neuroectodermal tumor    frontotemporal dementia

    11 diseases from the University of Copenhagen DISEASES database for FUS:
    Amyotrophic lateral sclerosis     Liposarcoma     Frontotemporal dementia     Sarcoma
    Fibrous histiocytoma     Anomalous atrioventricular excitation     Aphasia     Progressive supranuclear palsy
    Spondylolysis     Peripheral primitive neuroectodermal tumor     Expressive language disorder

    FUS for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/12 Novoseek inferred disease relationships for FUS gene (see all 12)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    liposarcoma myxoid 95 15 18162764 (3), 7566973 (2), 9244875 (1), 19190116 (1) (see all 11)
    liposarcoma 87.6 16 8058726 (2), 15064749 (2), 15492825 (2), 18509338 (1) (see all 12)
    sarcoma clear cell 61.6 2 7493135 (1), 11063792 (1)
    sarcoma 60.9 10 18162764 (3), 12915480 (2), 10602519 (1), 20406182 (1) (see all 6)
    ewings sarcoma 59 3 12907633 (2), 7493135 (1)
    histiocytoma fibrous 57.1 2 11063792 (1), 12915480 (1)
    lipoma 51.2 1 9244875 (1)
    chondrosarcoma 47.6 3 18162764 (3)
    tumors 36.9 13 17486070 (1), 18551309 (1), 19190116 (1), 7493135 (1) (see all 10)
    chromosomal aberrations 8.79 2 8058726 (2)

    Genatlas disease: FUS
    myxoid and round cell subtype liposarcoma,with breakpoint in t(12;16)(q13;p11) translocation

    GeneTests: FUS
    GeneReviews: FUS
    Genetic Association Database (GAD): FUS
    Human Genome Epidemiology (HuGE) Navigator: FUS (18 documents)

    Export disorders for FUS 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 FUS gene, integrated from 9 sources (see all 256):
    (articles sorted by number of sources associating them with FUS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Fusion of the dominant negative transcription regulator CHOP with a novel gene FUS by translocation t(12;16) in malignant liposarcoma. (PubMed id 7503811)1, 2, 3, 9 Rabbitts T.H.... Nathan P. (1993)
    2. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. (PubMed id 19251628)1, 2, 3 Vance C....Shaw C.E. (2009)
    3. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. (PubMed id 19251627)1, 2, 3 Kwiatkowski T.J. Jr.... Brown R.H. Jr. (2009)
    4. Human POMp75 is identified as the pro-oncoprotein TLF/FUS: both POMp75 and POMp100 DNA homologous pairing activities are associated to cell prolifieration. (PubMed id 10442642)1, 2, 9 Bertrand P.... Lopez B.S. (1999)
    5. Exome sequencing identifies fus mutations as a cause of essential tremor. (PubMed id 22863194)1, 2 Merner N.D.... Rouleau G.A. (2012)
    6. Fus gene mutations in familial and sporadic amyotroph ic lateral sclerosis. (PubMed id 20544928)1, 4 Rademakers R....Mackenzie I.R. (2010)
    7. SOD1, ANG, VAPB, TARDBP, and FUS mutations in familia l amyotrophic lateral sclerosis: genotype-phenotype correlations. (PubMed id 20577002)1, 4 Millecamps S....Meininger V. (2010)
    8. Novel missense and truncating mutations in FUS/TLS in familial ALS. (PubMed id 20660363)1, 4 Waibel S....Ludolph A.C. (2010)
    9. Genetic contribution of FUS to frontotemporal lobar d egeneration. (PubMed id 20124201)1, 2 Van Langenhove T....Van Broeckhoven C. (2010)
    10. Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis. (PubMed id 20385912)1, 4 Hewitt C....Shaw P.J. (2010)

    (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: 2521 HGNC: 4010 AceView: FUS Ensembl:ENSG00000089280 euGenes: HUgn2521
    ECgene: FUS Kegg: 2521 H-InvDB: FUS

    (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 FUS Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FUS Genetics and Cytogenetics in Oncology and Haematology

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

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



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    About This Section

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