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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4583
    • SNVs : 3411
    • InDels : 1172
    • Last Update : 05/11/2017

    Detailed information for JAG1






    Basic information
    Official symbol JAG1
    Official full name jagged 1
    Location 20p12.1-p11.23
    Gene type protein-coding
    Synonyms AGS|AHD|AWS|CD339|HJ1|JAGL1
    Quick links Entrez ID:182; HGNC:6188; MIM:601920; Ensembl:ENSG00000101384; HPRD:03562; Vega:OTTHUMG00000031872
    GO related
    GO term accession GO term name Number of reference genes Number of genes Expected number Ratio of enrichment P-value Adjusted P-Value
    GO:0007423 sensory organ development 436 48 5.42 8.85 3.27e-32 3.84e-30
    GO:0044707 single-multicellular organism process 5612 143 69.81 2.05 9.21e-29 7.72e-27
    GO:0032501 multicellular organismal process 5644 143 70.21 2.04 1.83e-28 1.43e-26
    GO:0044699 single-organism process 7682 152 95.57 1.59 9.26e-19 3.88e-17
    GO:0048646 anatomical structure formation involved in morphogenesis 1594 62 19.83 3.13 4.32e-17 1.64e-15
    GO:0009653 anatomical structure morphogenesis 2055 70 25.56 2.74 1.99e-16 7.08e-15
    GO:0048856 anatomical structure development 4030 102 50.13 2.03 4.19e-16 1.33e-14
    GO:0032502 developmental process 4572 104 56.88 1.83 3.53e-13 1.04e-11
    GO:0005488 binding 11955 150 132.97 1.13 0.0005 0.0090
    GO:0005515 protein binding 7337 102 81.61 1.25 0.0011 0.0149
    GO:0005509 calcium ion binding 668 17 7.43 2.29 0.0013 0.0157
    GO:0044459 plasma membrane part 1918 41 20.92 1.96 1.68e-05 9.98e-05
    Pathway related
    Term Surce Number of reference genes Number of genes Expected number Ratio of enrichment P-value Adjusted P-value
    PPI related
    ID Number of reference genes Number of genes Expected number Ratio of enrichment P-value Adjusted P-value
    OMIM related
    chromosome begin end disorder MIM number disorder phene mapping key gene/locus MIM number cytogenetic loaction
    chr20 10617331 10655694 118450 Alagille syndrome 3 601920 20p12.2
    chr20 10617331 10655694 - "Deafness, congenital heart defects, and posterior embryotoxon" 3 601920 20p12.2
    chr20 10617331 10655694 187500 Tetralogy of Fallot 3 601920 20p12.2
    MGI related
    chromosome begin end gene ID gene symbol of mouse MGI MP phenotype description
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0002873 normal phenotype
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0003012 no phenotypic analysis
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0003631 nervous system phenotype
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0005367 renal/urinary system phenotype
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0005369 muscle phenotype
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0005370 liver/biliary system phenotype
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0005376 homeostasis/metabolism phenotype
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0005377 hearing/vestibular/ear phenotype
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0005378 growth/size phenotype
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0005379 endocrine/exocrine gland phenotype
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0005380 embryogenesis phenotype
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0005381 digestive/alimentary phenotype
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0005382 craniofacial phenotype
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0005384 cellular phenotype
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0005385 cardiovascular system phenotype
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0005386 behavior/neurological phenotype
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0005390 skeleton phenotype
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0005391 vision/eye phenotype
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0005397 hematopoietic system phenotype
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0010768 mortality/aging
    chr20 10617331 10655694 182 Jag1 MGI:1095416 MP:0010771 integument phenotype
    Mutation spectrum

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    Gene-disease network

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