GeneID = 245938 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 245938
    Gene Symbol DEFB125
    Aliases DEFB-25,MGC57449
    Description defensin, beta 125
    Organism Homo sapiens
    Location 20p13
    Genomic position NC_000020.10 68350-77295 plus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q8N687
  • 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
    rs6039403 20 69094 ASW G / A 58 / 56 FET lg p = -13.57

    max diff AF = 0.307
    G/G / A/G / A/A 16 / 26 / 15 intronic: DEFB125
    CEU 148 / 78 49 / 50 / 14
    CHB 174 / 96 58 / 58 / 19
    CHD 151 / 67 49 / 53 / 7
    GIH 151 / 51 61 / 29 / 11
    JPT 146 / 80 46 / 54 / 13
    LWK 97 / 123 23 / 51 / 36
    MEX 74 / 42 26 / 22 / 10
    MKK 179 / 133 47 / 85 / 24
    TSI 138 / 66 47 / 44 / 11
    YRI 139 / 155 31 / 77 / 39
    1KG A (minor)871 in 2178 = 0.39991 heterozygosity = 0.47996, with SE = 0.09807
    rs6040382 20 71079 CEU C / T 130 / 0 FET lg p = -4.07

    max diff AF = 0.133
    C/C / C/T / T/T 65 / 0 / 0 intronic: DEFB125
    CHB 82 / 8 38 / 6 / 1
    JPT 78 / 12 34 / 10 / 1
    YRI 114 / 10 52 / 10 / 0
    1KG T (minor)111 in 2178 = 0.05096 heterozygosity = 0.09673, with SE = 0.19751
    rs6033515 20 72694 CEU C / T 126 / 0 FET lg p = 0.00

    max diff AF = 0.000
    C/C / C/T / T/T 63 / 0 / 0 intronic: DEFB125
    CHB 90 / 0 45 / 0 / 0
    JPT 90 / 0 45 / 0 / 0
    YRI 122 / 0 61 / 0 / 0
    1KG heterozygosity = 0.00000, with SE = 0.00000
    rs6033543 20 72821 CEU C / T 128 / 0 FET lg p = 0.00

    max diff AF = 0.000
    C/C / C/T / T/T 64 / 0 / 0 intronic: DEFB125
    CHB 90 / 0 45 / 0 / 0
    JPT 90 / 0 45 / 0 / 0
    YRI 126 / 0 63 / 0 / 0
    1KG heterozygosity = 0.00000, with SE = 0.00000
    rs892665 20 75254 ASW C / A 80 / 34 FET lg p = -8.61

    max diff AF = 0.242
    C/C / A/C / A/A 27 / 26 / 4 intronic: DEFB125
    CEU 139 / 87 39 / 61 / 13
    CHB 206 / 68 77 / 52 / 8
    CHD 154 / 64 58 / 38 / 13
    GIH 117 / 85 37 / 43 / 21
    JPT 157 / 69 52 / 53 / 8
    LWK 138 / 80 42 / 54 / 13
    MEX 82 / 34 31 / 20 / 7
    MKK 183 / 129 51 / 81 / 24
    TSI 104 / 100 29 / 46 / 27
    YRI 219 / 75 81 / 57 / 9
    1KG A (minor)740 in 2178 = 0.33976 heterozygosity = 0.44865, with SE = 0.15179
    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_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
  • 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 245938
    Gene Symbol and
    Genome Browser
    DEFB125
    UCSC Ensembl
    mRNA NM_153325
    protein NP_697020
    Ensembl ENST00000382410; ENSP00000371847; ENSG00000178591
    UniProt Accession Q8N687
    GeneCards GC20P000016
    UniGene Hs.380220
    HomoloGene 89195
    EMBL AF525927; AL360078; CH471133; BC128195; BC128196; AY122477
    IPI IPI00748187
    PRIDE Q8N687
    PharmGKB PA38501
    Reactome REACT_6900