Detailed information for NPHP1
Basic information
| Official symbol | NPHP1 |
|---|---|
| Official full name | nephronophthisis 1 (juvenile) |
| Location | 2q13 |
| Gene type | protein-coding |
| Synonyms | JBTS4|NPH1|SLSN1 |
| Quick links | Entrez ID:4867; HGNC:7905; MIM:607100; Ensembl:ENSG00000144061; HPRD:02019; Vega:09524 |
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:0003008 | system process | 1695 | 108 | 21.09 | 5.12 | 1.12e-54 | 2.63e-52 |
| GO:0030030 | cell projection organization | 934 | 46 | 11.62 | 3.96 | 2.85e-16 | 9.84e-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:0005515 | protein binding | 7337 | 102 | 81.61 | 1.25 | 0.0011 | 0.0149 |
| GO:0005929 | cilium | 239 | 55 | 2.61 | 21.10 | 2.59e-58 | 5.08e-56 |
| GO:0072372 | primary cilium | 96 | 33 | 1.05 | 31.52 | 2.93e-41 | 1.91e-39 |
| GO:0044441 | cilium part | 110 | 29 | 1.20 | 24.17 | 1.90e-32 | 9.31e-31 |
| GO:0042995 | cell projection | 1230 | 67 | 13.42 | 4.99 | 5.15e-30 | 2.02e-28 |
| GO:0044463 | cell projection part | 639 | 42 | 6.97 | 6.03 | 2.11e-21 | 5.17e-20 |
| GO:0032391 | photoreceptor connecting cilium | 23 | 12 | 0.25 | 47.83 | 2.41e-18 | 4.72e-17 |
| GO:0005930 | axoneme | 70 | 10 | 0.76 | 13.10 | 4.21e-09 | 3.93e-08 |
| GO:0035085 | cilium axoneme | 52 | 9 | 0.57 | 15.87 | 4.42e-09 | 3.94e-08 |
| GO:0005856 | cytoskeleton | 1790 | 47 | 19.52 | 2.41 | 7.23e-09 | 6.16e-08 |
| GO:0031514 | motile cilium | 12 | 5 | 0.13 | 38.20 | 1.09e-07 | 8.90e-07 |
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 |
|---|---|---|---|---|---|---|---|
| chr2 | 110879913 | 110963639 | 609583 | Joubert syndrome 4 | 3 | 607100 | 2q13 |
| chr2 | 110879913 | 110963639 | 256100 | "Nephronophthisis 1, juvenile" | 3 | 607100 | 2q13 |
| chr2 | 110879913 | 110963639 | 266900 | Senior-Loken syndrome-1 | 3 | 607100 | 2q13 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr2 | 110879913 | 110963639 | 4867 | Nphp1 | MGI:1858233 | MP:0003012 | no phenotypic analysis |
| chr2 | 110879913 | 110963639 | 4867 | Nphp1 | MGI:1858233 | MP:0005367 | renal/urinary system phenotype |
| chr2 | 110879913 | 110963639 | 4867 | Nphp1 | MGI:1858233 | MP:0005379 | endocrine/exocrine gland phenotype |
| chr2 | 110879913 | 110963639 | 4867 | Nphp1 | MGI:1858233 | MP:0005389 | reproductive system phenotype |
| chr2 | 110879913 | 110963639 | 4867 | Nphp1 | MGI:1858233 | MP:0005391 | vision/eye phenotype |
Mutation spectrum
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Gene-disease network
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