GeneID = 7809 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 7809
    Gene Symbol BSND
    Aliases BART,DFNB73,MGC119283,MGC119284,MGC119285
    Description Bartter syndrome, infantile, with sensorineural deafness (Barttin)
    Organism Homo sapiens
    Location 1p32.1
    Genomic position NC_000001.10 55464616-55474464 plus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q8WZ55
    Mammalian Homolog
    (GeneID)
    mouse : 140475
    rat : 192675
  • KOBAS Annotation (Pathway/Disease Annotation)
  • Data comes from KOBAS
    Disease IDDisease NameDisease Database
    Sensorineural deafness with mild renal dysfunction OMIM
    Bartter syndrome, type 4a OMIM
  • 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
    rs1003769 1 55463860 ASW A / G 51 / 63 FET lg p = -79.16

    max diff AF = 0.521
    A/A / A/G / G/G 8 / 35 / 14 upstream: BSND
    CEU 182 / 44 75 / 32 / 6
    CHB 89 / 183 14 / 61 / 61
    CHD 62 / 156 4 / 54 / 51
    GIH 161 / 41 64 / 33 / 4
    JPT 96 / 130 21 / 54 / 38
    LWK 67 / 153 9 / 49 / 52
    MEX 85 / 31 30 / 25 / 3
    MKK 134 / 176 28 / 78 / 49
    TSI 157 / 47 58 / 41 / 3
    YRI 103 / 189 17 / 69 / 60
    1KG G (minor)979 in 2178 = 0.44949 heterozygosity = 0.49490, with SE = 0.05025
    rs1003768 1 55464114 1KG A (minor)956 in 2178 = 0.43894 heterozygosity = 0.49254, with SE = 0.06061 upstream: BSND
    rs1003767 1 55464320 ASW T / C 51 / 63 FET lg p = -80.78

    max diff AF = 0.525
    T/T / C/T / C/C 8 / 35 / 14 upstream: BSND
    CEU 182 / 44 75 / 32 / 6
    CHB 88 / 186 14 / 60 / 63
    CHD 61 / 157 4 / 53 / 52
    GIH 161 / 41 64 / 33 / 4
    JPT 95 / 131 20 / 55 / 38
    LWK 66 / 154 9 / 48 / 53
    MEX 84 / 32 30 / 24 / 4
    MKK 129 / 183 28 / 73 / 55
    TSI 157 / 47 58 / 41 / 3
    YRI 104 / 190 17 / 70 / 60
    1KG C (minor)979 in 2178 = 0.44949 heterozygosity = 0.49490, with SE = 0.05025
    rs759914 1 55465594 ASW T / G 51 / 63 FET lg p = -82.10

    max diff AF = 0.525
    T/T / G/T / G/G 8 / 35 / 14 intronic: BSND
    CEU 182 / 44 75 / 32 / 6
    CHB 88 / 186 14 / 60 / 63
    CHD 61 / 157 4 / 53 / 52
    GIH 159 / 39 64 / 31 / 4
    JPT 95 / 131 20 / 55 / 38
    LWK 68 / 150 10 / 48 / 51
    MEX 87 / 27 33 / 21 / 3
    MKK 127 / 181 28 / 71 / 55
    TSI 157 / 47 58 / 41 / 3
    YRI 102 / 186 17 / 68 / 59
    1KG G (minor)971 in 2178 = 0.44582 heterozygosity = 0.49413, with SE = 0.05386
    rs759915 1 55465797 ASW A / G 51 / 63 FET lg p = -68.72

    max diff AF = 0.553
    A/A / A/G / G/G 8 / 35 / 14 intronic: BSND
    CEU 182 / 44 75 / 32 / 6
    CHB 167 / 107 53 / 61 / 23
    CHD 109 / 109 25 / 59 / 25
    GIH 162 / 40 64 / 34 / 3
    JPT 140 / 86 41 / 58 / 14
    LWK 68 / 152 10 / 48 / 52
    MEX 100 / 16 44 / 12 / 2
    MKK 127 / 185 27 / 73 / 56
    TSI 157 / 47 58 / 41 / 3
    YRI 103 / 191 17 / 69 / 61
    1KG G (minor)796 in 2178 = 0.36547 heterozygosity = 0.46381, with SE = 0.12957
    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_63006 chr1:55468547-55468637 U E InDel 1 0 1 19470904
    Variation_97357 chr1:55468510-55469281 U E InDel 1 0 1 19546169
  • 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 7809
    Gene Symbol and
    Genome Browser
    BSND
    UCSC Ensembl
    mRNA NM_057176
    protein NP_476517
    Ensembl ENST00000371265; ENSP00000360312; ENSG00000162399
    HPRD 05914
    UniProt Accession Q8WZ55
    GeneCards GC01P055464
    UniGene Hs.151291
    HomoloGene 14291
    EMBL AY034632; BC069510
    IPI IPI00103841
    PRIDE Q8WZ55
    STRING Q8WZ55
    OMIM 602522; 606412
    PharmGKB PA134911659