GeneID = 140850 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 140850
    Gene Symbol DEFB127
    Aliases C20orf73,DEF-27,DEFB-27,DEFB27,bA530N10.2,hBD-27
    Description defensin, beta 127
    Organism Homo sapiens
    Location 20p13
    Genomic position NC_000020.10 138185-139803 plus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q9H1M4
  • KOBAS Annotation (Pathway/Disease Annotation)
  • PharmacoGenetics Related Genes/Drugs/Diseases
  • TaxicoGenetics Related Chemicals/Diseases/Pathways
  • Known Drugs in DrugBank
  • Transporter Substrate Information
  • Genomic Variation --- SNP
  • Data is integrated from dbSNP and HapMap, with functionally annotated by ANNOVAR
    Note: heterozygosity is not actually estimated from 1KG data, but is put in the same line for more compact representation.
    dbSNP rsIDchrpositionpop.alleleallele countfrequencyHapMap pop. diff.genotypegenotype count (frequency) functional annotation
    rs2117453 20 137674 1KG A (minor)966 in 2178 = 0.44353 heterozygosity = 0.49362, with SE = 0.05611 upstream: DEFB127
    rs1434789 20 137900 ASW T / G 103 / 9 FET lg p = -84.67

    max diff AF = 0.479
    T/T / G/T / G/G 47 / 9 / 0 upstream: DEFB127
    CEU 137 / 87 42 / 53 / 17
    CHB 141 / 129 38 / 65 / 32
    CHD 104 / 114 24 / 56 / 29
    GIH 120 / 82 40 / 40 / 21
    JPT 112 / 114 22 / 68 / 23
    LWK 202 / 16 95 / 12 / 2
    MEX 82 / 32 30 / 22 / 5
    MKK 276 / 36 122 / 32 / 2
    TSI 138 / 64 49 / 40 / 12
    YRI 281 / 13 134 / 13 / 0
    1KG G (minor)715 in 2178 = 0.32828 heterozygosity = 0.44103, with SE = 0.16127
    rs1434790 20 137933 ASW G / C 89 / 23 FET lg p = -39.33

    max diff AF = 0.294
    G/G / C/G / C/C 36 / 17 / 3 upstream: DEFB127
    CEU 130 / 0 65 / 0 / 0
    CHB 90 / 0 45 / 0 / 0
    JPT 90 / 0 45 / 0 / 0
    LWK 154 / 64 56 / 42 / 11
    MEX 114 / 2 56 / 2 / 0
    MKK 262 / 50 111 / 40 / 5
    TSI 203 / 1 101 / 1 / 0
    YRI 91 / 35 34 / 23 / 6
    1KG C (minor)135 in 2178 = 0.06198 heterozygosity = 0.11628, with SE = 0.21123
    rs1858594 20 138555 ASW T / C 104 / 8 FET lg p = -111.86

    max diff AF = 0.520
    T/T / C/T / C/C 48 / 8 / 0 intronic: DEFB127
    CEU 137 / 89 42 / 53 / 18
    CHB 143 / 131 38 / 67 / 32
    CHD 104 / 114 24 / 56 / 29
    GIH 120 / 82 40 / 40 / 21
    JPT 112 / 114 22 / 68 / 23
    LWK 213 / 5 104 / 5 / 0
    MEX 82 / 34 30 / 22 / 6
    MKK 279 / 33 124 / 31 / 1
    TSI 138 / 66 49 / 40 / 13
    YRI 293 / 1 146 / 1 / 0
    1KG C (minor)695 in 2178 = 0.31910 heterozygosity = 0.43455, with SE = 0.16864
    rs1858592 20 138606 1KG G (minor)690 in 2178 = 0.31680 heterozygosity = 0.43288, with SE = 0.17046 intronic: DEFB127
    Limited to 5 records in this page. Click here to view more.
  • Genomic Variation --- CNV
  • Data comes from DGV
    Variation IDPositionVar. TypeGainLossTotal GL InvPubMed
    Variation_2249 chr20:89211-278388 U E CopyNumber 0 4 4 16826518
    Variation_9313 chr20:69408-213523 U E CopyNumber 1 1 17911159
  • Haplotype Information
  • Data links to UCSC Genome Browser
    ContentHyperlinkDemo example
    HapMap LD Structure (hg18)UCSC
    1000 Genomes Phase I Haplotype Clustering (hg19)UCSC
    Gene Haplotype Allele (hg19)UCSC
  • ENCODE TFBS (Transcription Factor Binding Sites) Information
  • Data comes from UCSC and ENCODE
    ChrStartEndTF nameScoreCell typesSNPs (rsIDs)
  • Epigenetic Information
  • Gene Ontology (GO)
  • Protein Sequence & Features
  • Protein Domain Information
  • Protein-Protein Interaction
  • UniGene EST Expression Data
  • Allen Brain Atlas - Mouse Brain Expression Data
  • RNA-seq Expression Data
  • External Links
  • EntrezGeneID 140850
    Gene Symbol and
    Genome Browser
    DEFB127
    UCSC Ensembl
    mRNA NM_139074
    protein NP_620713
    Ensembl ENST00000382388; ENSP00000371825; ENSG00000088782
    HPRD 10877
    UniProt Accession Q9H1M4
    GeneCards GC20P000086
    UniGene Hs.99362
    HomoloGene 89142
    EMBL AF525929; AY358796; AL360078; BC069486; BC109395; AY122479
    IPI IPI00030785
    STRING Q9H1M4
    PharmGKB PA27247
    Reactome REACT_6900