GeneID = 255022 is in our transporter list.
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  • Gene general annotation
  • Data comes from NCBI-Gene
    Entrez GeneID 255022
    Gene Symbol CALHM1
    Aliases FAM26C,MGC39514,MGC39617
    Description calcium homeostasis modulator 1
    Organism Homo sapiens
    Location 10q24.33
    Genomic position NC_000010.10 105213143-105218647 minus strand (Reference GRCh37.p5 Primary Assembly) U E
    UniProt Accession Q8IU99
    Mammalian Homolog
    (GeneID)
    mouse : 546729
    rat : 499367
  • KOBAS Annotation (Pathway/Disease Annotation)
  • Data comes from KOBAS
    Disease IDDisease NameDisease Database
    1740 Alzheimer's disease FunDO
  • PharmacoGenetics Related Genes/Drugs/Diseases
  • Data comes from PharmGKB PA162380954
    PharmGKB AccessionClassName / Gene Symbol (Entrez Gene ID)
    PA443319 Disease Alzheimer Disease
  • TaxicoGenetics Related Chemicals/Diseases/Pathways
  • Known Drugs in DrugBank
  • Transporter Substrate Information
  • Data comes from (unpublished integrated data)
    KEGG Compound ID:
    C00076
  • 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
    rs3014180 10 105213180 CHD A / C 171 / 43 FET lg p = -2.99

    max diff AF = 0.171
    A/A / A/C / C/C 67 / 37 / 3 UTR3: CALHM1
    GIH 133 / 59 47 / 39 / 10
    JPT 166 / 50 62 / 42 / 4
    LWK 146 / 66 51 / 44 / 11
    MEX 98 / 16 44 / 10 / 3
    1KG heterozygosity = 0.33653, with SE = 0.23455
    rs729211 10 105214932 ASW T / C 68 / 44 FET lg p = -15.09

    max diff AF = 0.287
    T/T / C/T / C/C 18 / 32 / 6 UTR3: CALHM1
    CEU 155 / 71 54 / 47 / 12
    CHB 143 / 129 35 / 73 / 28
    CHD 109 / 107 24 / 61 / 23
    GIH 157 / 45 61 / 35 / 5
    JPT 120 / 104 27 / 66 / 19
    LWK 128 / 90 37 / 54 / 18
    MEX 63 / 53 17 / 29 / 12
    MKK 173 / 137 48 / 77 / 30
    TSI 160 / 42 64 / 32 / 5
    YRI 158 / 130 40 / 78 / 26
    1KG C (minor)827 in 2178 = 0.37971 heterozygosity = 0.47106, with SE = 0.11676
    rs2986016 10 105215016 ASW G / A 102 / 10 FET lg p = -31.24

    max diff AF = 0.257
    G/G / A/G / A/A 46 / 10 / 0 UTR3: CALHM1
    CEU 167 / 59 62 / 43 / 8
    CHB 240 / 30 107 / 26 / 2
    CHD 193 / 19 88 / 17 / 1
    GIH 178 / 18 81 / 16 / 1
    JPT 214 / 10 102 / 10 / 0
    LWK 219 / 1 109 / 1 / 0
    MEX 97 / 19 41 / 15 / 2
    TSI 151 / 53 55 / 41 / 6
    YRI 287 / 5 141 / 5 / 0
    1KG A (minor)315 in 2178 = 0.14463 heterozygosity = 0.24742, with SE = 0.24999
    rs2986017 10 105218252 1KG A (minor)328 in 2178 = 0.15060 heterozygosity = 0.25583, with SE = 0.24993 exonic: CALHM1

    synonymous SNV: CALHM1, NM_001001412, exon1, c.T257T, p.L86L
    rs2986018 10 105218359 ASW C / T 104 / 10 FET lg p = -26.29

    max diff AF = 0.236
    C/C / C/T / T/T 47 / 10 / 0 exonic: CALHM1

    synonymous SNV: CALHM1, NM_001001412, exon1, c.A150A, p.A50A
    CEU 173 / 53 66 / 41 / 6
    CHB 244 / 30 109 / 26 / 2
    CHD 197 / 21 89 / 19 / 1
    GIH 183 / 19 83 / 17 / 1
    JPT 216 / 10 103 / 10 / 0
    LWK 218 / 2 108 / 2 / 0
    MEX 97 / 19 41 / 15 / 2
    MKK 288 / 24 132 / 24 / 0
    TSI 154 / 50 56 / 42 / 4
    YRI 289 / 5 142 / 5 / 0
    1KG T (minor)302 in 2178 = 0.13866 heterozygosity = 0.23886, with SE = 0.24975
    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_1231 chr10:105218252-105222076 U E CopyNumber 1 1 16327808
  • 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 255022
    Gene Symbol and
    Genome Browser
    CALHM1
    UCSC Ensembl
    mRNA NM_001001412
    protein NP_001001412
    Ensembl ENST00000329905; ENSP00000329926; ENSG00000185933
    HPRD 16879
    UniProt Accession Q8IU99
    GeneCards GC10M105213
    UniGene Hs.680365
    HomoloGene 55508
    EMBL AL139339; BC036193; BC036208
    IPI IPI00292438
    PRIDE Q8IU99
    STRING Q8IU99
    OMIM 612234
    PharmGKB PA162380954