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

FBL Gene

protein-coding   GIFtS: 65
GCID: GC19M040325

fibrillarin

 Explore 17 diseases affiliated with
FBL via our new
 Human Malady Compendium 
Biological research products
for FBL
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Fibrillarin1     RNA, U3 Small Nucleolar Interacting Protein 12
FLRN1 2 3     RRNA 2'-O-Methyltransferase Fibrillarin2
FIB1 2     EC 2.1.1.-3
RNU3IP11 2     FIB13
34 KDa Nucleolar Scleroderma Antigen2 3     EC 2.1.18
34-KD Nucleolar Scleroderma Antigen2     EC 2.1.1.378

External Ids:    HGNC: 35991   Entrez Gene: 20912   Ensembl: ENSG000001052027   OMIM: 1347955   UniProtKB: P220873   

Export aliases for FBL gene to outside databases

Previous GC identifers: GC19M040966 GC19M040716 GC19M045001 GC19M045016 GC19M036772


(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 FBL:
This gene product is a component of a nucleolar small nuclear ribonucleoprotein (snRNP) particle thought to participate
in the first step in processing preribosomal RNA. It is associated with the U3, U8, and U13 small nuclear RNAs and is
located in the dense fibrillar component (DFC) of the nucleolus. The encoded protein contains an N-terminal repetitive
domain that is rich in glycine and arginine residues, like fibrillarins in other species. Its central region resembles
an RNA-binding domain and contains an RNP consensus sequence. Antisera from approximately 8% of humans with the
autoimmune disease scleroderma recognize fibrillarin. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: FBRL_HUMAN, P22087
Function: Involved in pre-rRNA processing. Utilizes the methyl donor S-adenosyl-L-methionine to catalyze the
site-specific 2'-hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Site specificity is provided by a guide
RNA that base pairs with the substrate. Methylation occurs at a characteristic distance from the sequence involved in
base pairing with the guide RNA

Gene Wiki entry for FBL (Fibrillarin)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the FBL gene promoter:
         CREB   deltaCREB   MyoD   C/EBPalpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFBL promoter sequence
   Search SABiosciences Chromatin IP Primers for FBL

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


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

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.1

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M040325:  view genomic region     (about GC identifiers)

Start:
40,325,093 bp from pter      End:
40,337,054 bp from pter
Size:
11,962 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: FBRL_HUMAN, P22087 (See protein sequence)
Recommended Name: rRNA 2'-O-methyltransferase fibrillarin  
Size: 321 amino acids; 33784 Da
Subunit: Interacts with NOLC1 (By similarity). Component of box C/D small nucleolar ribonucleoprotein (snoRNP)
particles that contain NHP2L1, FBL, NOP5 and NOP56, plus a guide RNA. It is associated with the U3, U8, U13, X and Y
small nuclear RNAs. Component of several ribosomal and nucleolar protein complexes. Interacts with PRMT5 and UTP20.
Interacts with DDX5 and C1QBP
Subcellular location: Nucleus, nucleolus. Note=Fibrillar region of the nucleolus
1 PDB 3D structure from and Proteopedia for FBL:
2IPX (3D)    
Secondary accessions: B5BUE8 O75259 Q6IAT5 Q9UPI6

Explore the universe of human proteins at neXtProt for FBL: NX_P22087

Post-translational modifications:

  • By homology to other fibrillarins, some or all of the N-terminal domain arginines are modified to asymmetric
  • dimethylarginine (DMA)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P22087

  • 4/17 DME Specific Peptides for FBL (P22087) (see all 17)
     RIVALNA  RHEGVFI  ISEGDDK  DVAQPDQ 

    FBL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001427.2  
    ENSEMBL proteins: 
     ENSP00000221801  

    Human Recombinant Protein Products: 
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    Uscn Proteins for FBL

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001652granular component IEA--
    GO:0005730nucleolus IDA16687569
    GO:0015030Cajal body IDA16687569
    GO:0031428box C/D snoRNP complex NAS17636026


    FBL for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for FBL


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    FBL for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000692 Fibrillarin
     IPR020813 Fibrillarin_CS

    Graphical View of Domain Structure for InterPro Entry P22087

    ProtoNet protein and cluster: P22087

    1 Blocks protein family: IPB000692 Fibrillarin

    UniProtKB/Swiss-Prot: FBRL_HUMAN, P22087
    Similarity: Belongs to the methyltransferase superfamily. Fibrillarin family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: FBRL_HUMAN, P22087
    Function: Involved in pre-rRNA processing. Utilizes the methyl donor S-adenosyl-L-methionine to catalyze the
    site-specific 2'-hydroxyl methylation of ribose moieties in pre-ribosomal RNA. Site specificity is provided by a guide
    RNA that base pairs with the substrate. Methylation occurs at a characteristic distance from the sequence involved in
    base pairing with the guide RNA

    Enzyme Numbers (IUBMB): EC 2.1.1.-1 EC 2.1.12 EC 2.1.1.372

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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IEA--
    GO:0005515protein binding IPI10837141
    GO:0008168methyltransferase activity IEA--


    FBL for ontologies           About GeneDecksing


    10 GenomeRNAi human phenotypes for FBL:
     Decreased TP53 protein express  Decreased cilium length after   Decreased viability of wild-ty  Downregulation of NF-kappaB pa 
     Downregulation of NF-kappaB pa  Increased S DNA content  Increased cell death in DLD-1   Nuclear 60S biogenesis defects 
     Nucleolar pre-40S maturation d  Synthetic lethal with Ras 

    Animal Models:
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Fbl):
     embryogenesis  mortality/aging 

    FBL for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cytoskeletal Signaling
    Cytoskeletal Signaling1.00
    2TNF-alpha/NF-kB Signaling Pathway
    TNF-alpha/NF-kB Signaling Pathway1.00
    3Ribosome biogenesis in eukaryotes
    Ribosome biogenesis in eukaryotes1.00
    4Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    2 Cell Signaling Technology (CST) Pathways for FBL
        Chromatin Regulation / Acetylation
    Cytoskeletal Signaling

    1 BioSystems Pathway for FBL 
        TNF-alpha/NF-kB Signaling Pathway


    1         Kegg Pathway  (Kegg details for FBL):
        Ribosome biogenesis in eukaryotes


    FBL for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for FBL

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

    5/306 Interacting proteins for FBL (P220871, 2, 3 ENSP000002218014) via UniProtKB, MINT, STRING, and/or I2D (see all 306)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3, ENSP000003700834MINT-18105 MINT-18106 MINT-18107 I2D: score=5 STRING: ENSP00000370083
    SMN2Q166372, 3, ENSP000003701194MINT-18105 MINT-18106 MINT-18107 I2D: score=5 STRING: ENSP00000370119
    GEMIN4P576782, 3, ENSP000003217064MINT-6489539 MINT-6489355 I2D: score=1 STRING: ENSP00000321706
    UBTFP174802, 3, ENSP000003026404MINT-1894291 MINT-8373408 I2D: score=1 STRING: ENSP00000302640
    MAP3K14Q995582, 3MINT-47931 MINT-48829 I2D: score=4 
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006364rRNA processing IEA--
    GO:0008033tRNA processing IEA--
    GO:0016074snoRNA metabolic process IEA--


    FBL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    FBL for compounds           About GeneDecksing

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

    Browse Tocris compounds for FBL

    1 HMDB Compound for FBL    About this table
    CompoundSynonyms CAS #PubMed Ids
    S-Adenosylmethionine(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)29908-03-0--
    9 Novoseek chemical compound relationships for FBL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    rrna 62 7 8508778 (1), 11509571 (1), 19562966 (1), 10942594 (1) (see all 7)
    actinomycin d 61.5 9 15210063 (4), 9211978 (2), 10512052 (1), 17205309 (1) (see all 5)
    arginine 38.4 14 12523648 (3), 14583623 (1), 1846968 (1), 10518318 (1) (see all 9)
    hgcl2 33.8 4 10685806 (1), 7529293 (1)
    toluidine 19.5 1 9588897 (1)
    mercury 19.3 12 10942594 (3), 10685806 (2), 8187336 (1), 11580225 (1) (see all 5)
    nacl 0 1 10512052 (1)
    silver 0 1 9188763 (1)
    serine 0 2 16373587 (1), 18836177 (1)

    Search CenterWatch for drugs/clinical trials and news about FBL / FBRL 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for FBL gene: 
    NM_001436.3  

    Unigene Cluster for FBL:

    Fibrillarin
    Hs.299002  [show with all ESTs]
    Unigene Representative Sequence: BG324446
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000221801(uc002omn.3 uc002omm.1 uc002omo.2 uc010egr.3)


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    Additional cDNA sequence: 

    AB451384.1 AK296950.1 AK308649.1 BC015218.2 BC019260.1 BC019609.1 BT006830.1 BT020144.1 
    CR457069.1 M59849.1 X56597.1 

    24/32 DOTS entries (see all 32):

    DT.97862649  DT.99926462  DT.100686044  DT.95314955  DT.92464308  DT.121421980  DT.100686046  DT.92403610 
    DT.95365934  DT.100686048  DT.100866653  DT.121421996  DT.100686042  DT.95366033  DT.100686028  DT.100686030 
    DT.102840689  DT.121422000  DT.121422060  DT.121422064  DT.75129766  DT.91892615  DT.92030034  DT.95365912 

    24/912 AceView cDNA sequences (see all 912):

    BQ213787 BM667716 BU735529 BM809155 BC019260 AA299195 BQ691398 CR592096 
    BE740062 BE792566 N24905 BU164191 BE904982 BU179974 BQ689834 CB136677 
    BQ689951 BU517286 AW250801 AI469476 BQ936516 BM423376 AA333882 AA309748 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for FBL (see all 12)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b · 11c ^ 12a · 12b
    SP1:                                                                                      -                                                               
    SP2:                          -     -     -     -                 -                       -                                                               
    SP3:                          -     -     -     -                                         -                                                               
    SP4:                                            -     -                                   -                                                               
    SP5:                                                                                      -                                                               


    ECgene alternative splicing isoforms for FBL

    (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

    FBL expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCGTGGTCGT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See FBL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for FBL

    SOURCE GeneReport for Unigene cluster: Hs.299002
        SABiosciences Custom PCR Arrays for FBL
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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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for FBL gene from 9/40 species (see all 40)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Fbl1 , 5 fibrillarin1, 5 87.5(n)1
    97.81(a)1
      7 (16.67 cM)5
    141131  NM_007991.31  NP_032017.21 
     281697485 
    lizard
    (Anolis carolinensis)
    Reptilia FBL6
    --
    81(a)
    1 ↔ 1
    GL343276.1(1675845-1686295)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3984342 hypothetical protein LOC398434 75.2(n)    BC045093.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb37g122 Danio rerio cDNA clone MGC56145 IMAGE5412217, complete more 74.45(n)    BC051777.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG109093
    Fib1
    35S primary transcript processing3
    Fibrillarin1
    44(a)3
    71.03(n)1
    81.47(a)1
      87D43
    376621  NM_079093.21  NP_523817.11 
    worm
    (Caenorhabditis elegans)
    Secernentea fib-11 , 3 fibrillarin3
    Protein FIB-11
    76(a)3
    67.31(n)1
    73.31(a)1
      V(15003363-15004563)3
    1799991  NM_074290.31  NP_506691.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes NOP1(YDL014W)4
    NOP11
    Nucleolar protein, component of the small subunit processome more4
    Nop1p1
    63.63(n)1
    70.36(a)1
      4(427364-428347)4
    8515481, 4  NP_010270.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons FIB11 rRNA 2'-O-methyltransferase fibrillarin 1 67.01(n)
    76.61(a)
      835323  NM_124626.4  NP_568772.3 
    rice
    (Oryza sativa)
    Liliopsida Os02g08218001 hypothetical protein 67.93(n)
    72.15(a)
      4331181  NM_001055088.1  NP_001048553.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for FBL gene
    1 SIMAP similar gene for FBL using alignment to 10 protein entries:     FBRL_HUMAN (see all proteins):
    FBLL1

    FBL for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for FBL
    PGOHUM00000245782 PGOHUM00000257133


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/262 NCBI SNPs in FBL are shown (see all 262    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs793568001,2
    --40324822(+) ACGCCC/TTGGAC 4 -- ut51 ds50010--------
    rs1431571711,2
    --40325006(+) GACCGA/GGTGAG 4 -- us2k1 ds50010--------
    rs20722901,2
    C,F,A,H,--40325016(+) GAATTT/CACCCA 4 -- us2k1 ds500131Minor allele frequency- C:0.37EA NA NS WA CSA 4180
    rs735504611,2
    C,F,--40325042(+) CCAAGG/AGTGCG 4 -- ds5001 us2k13Minor allele frequency- A:0.10WA CSA 122
    rs2003440751,2
    --40325175(+) GCTGAA/GCTTCA 4 -- us2k1 ut310--------
    rs2016528001,2
    --40325251(+) TGGCAC/TTCGGG 4 -- us2k1 int10--------
    rs1116857621,2
    C,F,--40325254(+) CACTCG/AGGGTG 4 -- us2k1 int14Minor allele frequency- A:0.01CSA WA EU 717
    rs1137506201,2
    C--40325305(+) CTGCTG/CACCTG 4 -- us2k1 int11Minor allele frequency- C:0.00CSA 1
    rs1135377081,2
    C--40325306(+) TGCTCA/G/TCCTGT 4 -- spd1 us2k11CSA 1
    rs2014827121,2
    --40325327(+) GACCAC/TGGCAT 5 M V mis1 us2k10--------

    HapMap Linkage Disequilibrium report for FBL (40325093 - 40337054 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for FBL
         2 CNVs: 30906 4079

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    (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.)
    About This Section

    FBL for disorders           About GeneDecksing

    OMIM gene information: 134795    OMIM disorders: --

    17 diseases for FBL:    About MalaCards
    scleroderma    spinal muscular atrophy    connective tissue disease    treacher collins syndrome
    muscular atrophy    diffuse scleroderma    lupus erythematosus    polymyositis
    systemic scleroderma    dermatomyositis    myositis    hepatitis c
    hepatitis b    influenza    hepatitis    malaria
    neuronitis

    2 diseases from the University of Copenhagen DISEASES database for FBL:
    Liver disease     Hepatitis C

    10/15 Novoseek disease relationships for FBL gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sclerosis systemic 68.5 14 2178987 (2), 7604300 (1), 10685806 (1), 8670324 (1) (see all 11)
    other connective tissue disease 50.9 2 10685806 (1)
    myositis 48.2 1 11703380 (1)
    polymyositis 44.3 1 7604300 (1)
    telangiectasia 31.4 1 2254467 (1)
    adenovirus infections 30.7 1 7693468 (1)
    connective tissue diseases 30.2 1 7532674 (1)
    autoimmunity 23.3 4 10497068 (1), 8187336 (1), 11580225 (1), 7529293 (1)
    pulmonary fibrosis 18.8 1 12628048 (1)
    dermatomyositis 12.4 1 7604300 (1)

    Human Genome Epidemiology (HuGE) Navigator: FBL (3 documents)

    Export disorders for FBL 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 FBL gene, integrated from 9 sources (see all 224):
    (articles sorted by number of sources associating them with FBL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. cDNA cloning and sequencing of human fibrillarin, a conserved nucleolar protein recognized by autoimmune antisera. (PubMed id 1846968)1, 2, 3, 9 Aris J.P. and Blobel G. (1991)
    2. Evolutionary conservation of the human nucleolar protein fibrillarin and its functional expression in yeast. (PubMed id 2026646)1, 2, 3, 9 Jansen R.P....Tollervey D. (1991)
    3. Human fibrillarin forms a sub-complex with splicing factor 2- associated p32, protein arginine methyltransferases, and tubulins alpha 3 and beta 1 that is independent of its association with preribosomal ribonucleoprotein complexes. (PubMed id 14583623)1, 2, 9 Yanagida M.... Takahashi N. (2004)
    4. An intact Box C sequence in the U3 snRNA is required for binding of fibrillarin, the protein common to the major family of nucleolar snRNPs. (PubMed id 1714385)1, 2, 9 Baserga S.J.... Steitz J.A. (1991)
    5. Splicing factor 2-associated protein p32 participates in ribosome biogenesis by regulating the binding of Nop52 and fibrillarin to pre ribosome particles. (PubMed id 21536856)1, 2 Yoshikawa H....Takahashi N. (2011)
    6. Human 1A6/DRIM, the homolog of yeast Utp20, functions in the 18S rRNA processing. (PubMed id 17498821)1, 2 Wang Y....Ke Y. (2007)
    7. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)1, 2 Grimwood J.... Lucas S.M. (2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. The nuclear DEAD box RNA helicase p68 interacts with the nucleolar protein fibrillarin and colocalizes specifically in nascent nucleoli during telophase. (PubMed id 10837141)1, 2 Nicol S.M....Fuller-Pace F.V. (2000)
    10. Purification and partial characterization of a nucleolar scleroderma antigen (Mr = 34,000; pI, 8.5) rich in NG,NG-dimethylarginine. (PubMed id 2414294)1, 2 Lischwe M.A.... Busch H. (1985)

    (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: 2091 HGNC: 3599 AceView: FBL Ensembl:ENSG00000105202 euGenes: HUgn2091
    ECgene: FBL Kegg: 2091 H-InvDB: FBL

    (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 FBL Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for FBL 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 FBL gene:
    Search GeneIP for patents involving FBL

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



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