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DGCR14 Gene

protein-coding   GIFtS: 56
GCID: GC22M019117

DiGeorge Syndrome Critical Region Gene 14

(Previous name: DiGeorge syndrome critical region gene 13)
(Previous symbol: DGCR13)
  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
DiGeorge Syndrome Critical Region Gene 141 2     ES22 3
DGCR131 2 3     DGS-I2
DGSI2 3 5     Es2el2
DiGeorge Syndrome Critical Region Gene 131 2     DiGeorge Syndrome Critical Region Gene DGSI2
DiGeorge Syndrome Critical Region 132 3     DiGeorge Syndrome Gene H2
DiGeorge Syndrome Critical Region 142 3     DiGeorge Syndrome Gene I2
DiGeorge Syndrome Protein H2 3     Protein DGCR132
DGS-H2 3     Protein DGCR142
DGSH2 3     Protein ES23

External Ids:    HGNC: 168171   Entrez Gene: 82202   Ensembl: ENSG000001000567   OMIM: 6017555   UniProtKB: Q96DF83   

Export aliases for DGCR14 gene to outside databases

Previous GC identifers: GC22M016062 GC22M017495 GC22M017496 GC22M017500 GC22M002739


(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 DGCR14 Gene:
This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for
a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome,
conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been
associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and
the orthologous protein in the mouse localizes to the nucleus. (provided by RefSeq, Jul 2008)

GeneCards Summary for DGCR14 Gene:
DGCR14 (DiGeorge syndrome critical region gene 14) is a protein-coding gene. Diseases associated with DGCR14 include faces syndrome, and digeorge syndrome.

UniProtKB/Swiss-Prot: DGC14_HUMAN, Q96DF8
Function: May be involved in pre-mRNA splicing

Gene Wiki entry for DGCR14 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the DGCR14 gene promoter:
         NF-1/L   E47   Egr-4   CREB   Egr-2   PPAR-gamma1   deltaCREB   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDGCR14 promoter sequence
   Search Chromatin IP Primers for DGCR14

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DGCR14


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

Entrez Gene cytogenetic band: 22q11.21|22q11.2   Ensembl cytogenetic band:  22q11.21   HGNC cytogenetic band: 22q11.21

DGCR14 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DGCR14 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M019117:  view genomic region     (about GC identifiers)

Start:
19,117,792 bp from pter      End:
19,132,197 bp from pter
Size:
14,406 bases      Orientation:
minus strand

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: DGC14_HUMAN, Q96DF8 (See protein sequence)
Recommended Name: Protein DGCR14  
Size: 476 amino acids; 52568 Da
Subunit: Identified in the spliceosome C complex
Secondary accessions: Q49AH7 Q9BTZ4

Explore the universe of human proteins at neXtProt for DGCR14: NX_Q96DF8

Explore proteomics data for DGCR14 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See DGCR14 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_073210.1  
    ENSEMBL proteins: 
     ENSP00000252137   ENSP00000388524  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR019148 Nuclear_protein_DGCR14

    Graphical View of Domain Structure for InterPro Entry Q96DF8

    ProtoNet protein and cluster: Q96DF8

    UniProtKB/Swiss-Prot: DGC14_HUMAN, Q96DF8
    Similarity: Belongs to the DGCR14 family


    DGCR14 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: DGC14_HUMAN, Q96DF8
    Function: May be involved in pre-mRNA splicing

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI--
         
    DGCR14 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for DGCR14:
     Decreased nuclei size in G2M  Synthetic lethal with Ras 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Dgcr14):
     no phenotypic analysis 

    DGCR14 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Dgcr14tm1Bld for DGCR14

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DGCR14
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    miRTarBase miRNAs that target DGCR14:
    hsa-mir-346 (MIRT042711), hsa-mir-744-5p (MIRT037654), hsa-mir-149-5p (MIRT045418)

    Block miRNA regulation of human, mouse, rat DGCR14 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate DGCR14 (see all 28):
    hsa-miR-34b* hsa-miR-562 hsa-miR-4286 hsa-miR-764 hsa-miR-888* hsa-miR-4275 hsa-miR-124 hsa-miR-2115
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DGCR14

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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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    Subcellular locations from UniProtKB/Swiss-Prot
    DGC14_HUMAN, Q96DF8: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    mitochondrion2
    cytosol1
    extracellular1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ISS8703114
    GO:0071013catalytic step 2 spliceosome IDA11991638

    DGCR14 for ontologies           About GeneDecksing


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DGCR14
    Interactions:

        Search GeneGlobe Interaction Network for DGCR14

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

    Selected Interacting proteins for DGCR14 (Q96DF81, 2, 3 ENSP000002521374) via UniProtKB, MINT, STRING, and/or I2D (see all 94)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FRA10AC1Q70Z531, 2, ENSP000003604884EBI-3928124,EBI-710176 MINT-8331503 MINT-8338113 STRING: ENSP00000360488
    GNB2L1P632442, 3, ENSP000003660134MINT-8338201 I2D: score=5 STRING: ENSP00000366013
    PFDN1O609252, 3MINT-8265772 I2D: score=2 
    VIMP086702, 3MINT-8277019 I2D: score=2 
    MAPK1P284823, ENSP000002158324I2D: score=5 STRING: ENSP00000215832
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000398mRNA splicing, via spliceosome IC11991638
    GO:0007399nervous system development ISS8703114

    DGCR14 for ontologies           About GeneDecksing



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

    Browse Tocris compounds for DGCR14 (DGC14)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for DGCR14 gene: 
    NM_022719.2  

    Unigene Cluster for DGCR14:

    DiGeorge syndrome critical region gene 14
    Hs.517407  [show with all ESTs]
    Unigene Representative Sequence: NM_022719
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000252137(uc002zou.3) ENST00000434568 ENST00000472073 ENST00000469466

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate DGCR14 (see all 28):
    hsa-miR-34b* hsa-miR-562 hsa-miR-4286 hsa-miR-764 hsa-miR-888* hsa-miR-4275 hsa-miR-124 hsa-miR-2115
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DGCR14
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DGCR14
    Primer
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    OriGene qPCR primer pairs and template standards for DGCR14
    OriGene qSTAR qPCR primer pairs in human, mouse for DGCR14
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DGCR14
      QuantiTect SYBR Green Assays in human, mouse, rat DGCR14
      QuantiFast Probe-based Assays in human, mouse, rat DGCR14

    Additional mRNA sequence: 

    AF088068.1 AK095932.1 BC003015.1 BC006542.2 BC069275.1 CR456344.1 L42347.1 L42353.1 
    L77565.1 L77566.1 L78010.1 U84518.1 

    24 DOTS entries:

    DT.421881  DT.100640767  DT.95106644  DT.100719209  DT.113508  DT.100776338  DT.100712321  DT.100823271 
    DT.101978026  DT.120640067  DT.86852706  DT.100761005  DT.75152382  DT.95106642  DT.100653724  DT.100823266 
    DT.100823272  DT.100823273  DT.100823275  DT.100839564  DT.120639957  DT.95106647  DT.97810306  DT.40131356 

    Selected AceView cDNA sequences (see all 296):

    CR614835 CR602190 CR595570 CR602690 AK095932 CR622732 L77565 NM_022719 
    L42347 BM980969 BE792561 CR620584 BU160387 BX403453 CR621056 AL137713 
    BU500228 BM698843 AI904245 BU166399 CR456587 CB121805 BM969270 BC003015 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for DGCR14 (see all 7)    About this scheme

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


    ECgene alternative splicing isoforms for DGCR14

    (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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    DGCR14 expression in normal human tissues (normalized intensities)      DGCR14 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCGCCAGCCC
    DGCR14 Expression
    About this image


    DGCR14 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebellum
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
    DGCR14 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DGCR14 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517407

    UniProtKB/Swiss-Prot: DGC14_HUMAN, Q96DF8
    Tissue specificity: Highly expressed in heart, brain and skeletal muscle. Detected at low levels in placenta

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DGCR14

    (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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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DGCR14 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dgcr141 , 5 DiGeorge syndrome critical region gene 141, 5 85.99(n)1
    92.86(a)1
      16 (11.09 cM)5
    278861  NM_022408.21  NP_071853.21 
     179007115 
    chicken
    (Gallus gallus)
    Aves DGCR141 DiGeorge syndrome critical region gene 14 69.02(n)
    73.13(a)
      416925  XM_415216.4  XP_415216.3 
    lizard
    (Anolis carolinensis)
    Reptilia DGCR146
    DiGeorge syndrome critical region gene 14
    73(a)
    1 ↔ 1
    GL343282.1(739104-758326)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.157142 Xenopus laevis transcribed sequence with moderate similarity more 72.99(n)    BJ623526.1 
    zebrafish
    (Danio rerio)
    Actinopterygii dgcr141 DiGeorge syndrome critical region gene 14 65.75(n)
    67.51(a)
      324123  NM_001089330.1  NP_001082799.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Es21 Es2 49.44(n)
    40.43(a)
      31780  NM_132252.4  NP_572480.1 
    worm
    (Caenorhabditis elegans)
    Secernentea ess-21 ess-2 46.8(n)
    40.15(a)
      176200  NM_001027409.3  NP_001022580.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G077901 AT3G07790 45.13(n)
    34.32(a)
      819970  NM_111658.3  NP_187436.1 
    rice
    (Oryza sativa)
    Liliopsida Os06g05029001 Os06g0502900 45.99(n)
    34.74(a)
      4341119  NM_001064246.1  NP_001057711.1 


    ENSEMBL Gene Tree for DGCR14 (if available)
    TreeFam Gene Tree for DGCR14 (if available)

    (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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    Selected SNPs for DGCR14 (see all 544)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1850159561,2
    Cuntested13062781(+) GCCCCC/TGAGGT 1 -- ut310--------
    rs81424861,2
    C,F,A,H--3060677(+) GCTTAG/AAGAAA 1 -- ds50019Minor allele frequency- A:0.05NS EA NA WA 1208
    rs28009891,2
    H--3060719(+) CCAGTC/TACTTT 1 -- ds50014Minor allele frequency- T:0.00NS EA 416
    rs1449175411,2
    C--3060779(+) CTGCCA/GCCTCT 1 -- ds50010--------
    rs1148552271,2
    C,F--3060999(+) GCACCA/GCTGCC 1 -- ds50011Minor allele frequency- G:0.01WA 118
    rs1490270801,2
    --3061137(+) TGTAAC/TTGGAT 1 -- ut310--------
    rs1181406541,2
    F--3061160(+) CTGGAG/AATAAT 1 -- ut311Minor allele frequency- A:0.03EA 120
    rs122333511,2
    C,F,H--3061209(+) GTTTAT/CATAGG 1 -- ut3112Minor allele frequency- C:0.07NS EA NA 1660
    rs791947981,2
    C,F--3061236(+) ACATGC/TAGTAC 1 -- ut311Minor allele frequency- T:0.08EA 120
    rs1151888281,2
    C,F--3061319(+) AAGTCC/GGATTA 1 -- ut311Minor allele frequency- G:0.01WA 118

    HapMap Linkage Disequilibrium report for DGCR14 (19117792 - 19132197 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for DGCR14:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2723977CNV Deletion23290073
    nsv435744CNV Deletion17901297
    esv1435213CNV Deletion17803354
    esv2139371CNV Deletion18987734
    nsv834122CNV Loss17160897
    nsv191354CNV Loss16902084
    nsv191518CNV Loss16902084
    nsv914263CNV Gain21882294
    nsv914268CNV Gain21882294

    Human Gene Mutation Database (HGMD): DGCR14
    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 601755    OMIM disorders: --

    9 diseases for DGCR14:    About MalaCards
    faces syndrome    digeorge syndrome    tonsillitis    schizophrenia
    malaria    cerebritis    thyroiditis    endotheliitis
    prostatitis

    1 disease from the University of Copenhagen DISEASES database for DGCR14:
    DiGeorge syndrome

    DGCR14 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for DGCR14 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    digeorge syndrome 86.1 1 9063747 (1)

    Genetic Association Database (GAD): DGCR14
    Human Genome Epidemiology (HuGE) Navigator: DGCR14 (5 documents)

    Export disorders for DGCR14 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 DGCR14 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with DGCR14)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structural and mutational analysis of a conserved gene (DGSI) from the minimal DiGeorge syndrome critical region. (PubMed id 9063747)1, 2, 3, 9 Gong W....Budarf M.L. (Hum. Mol. Genet. 1997)
    2. A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11. (PubMed id 8776594)1, 2, 3 Gong W.... Budarf M.L. (Hum. Mol. Genet. 1996)
    3. Cloning and comparative mapping of a gene from the commonly deleted region of DiGeorge and Velocardiofacial syndromes conserved in C. elegans. (PubMed id 8703114)1, 2, 9 Rizzu P.... Baldini A. (Mamm. Genome 1996)
    4. Transmission disequilibrium test provides evidence of association between promoter polymorphisms in 22q11 gene DGCR14 and schizophrenia. (PubMed id 16432632)1, 4 Wang H....He L. (J Neural Transm 2006)
    5. 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. (Genome Res. 2004)
    6. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
    7. Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis. (PubMed id 11991638)1, 2 Jurica M.S.... Moore M.J. (RNA 2002)
    8. A transcription map in the CATCH22 critical region: identification, mapping, and ordering of four novel transcripts expressed in heart. (PubMed id 8786095)1, 2 Lindsay E.A.... Baldini A. (Genomics 1996)
    9. ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and is expressed during early mouse development, where it shares an expression domain with a Goosecoid-like gene. (PubMed id 9499415)1, 9 Lindsay E.A....Baldini A. (Hum. Mol. Genet. 1998)
    10. Dynamic protein-protein interaction wiring of the human spliceosome. (PubMed id 22365833)1 Hegele A....Stelzl U. (Mol. Cell 2012)

    (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: 8220 HGNC: 16817 AceView: DGCR14 Ensembl:ENSG00000100056 euGenes: HUgn8220
    ECgene: DGCR14 H-InvDB: DGCR14

    (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 DGCR14 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 DGCR14 gene:
    Search GeneIP for patents involving DGCR14

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



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