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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