Detailed information for NPHP4
Basic information
| Official symbol | NPHP4 |
|---|---|
| Official full name | nephronophthisis 4 |
| Location | 1p36 |
| Gene type | protein-coding |
| Synonyms | POC10|SLSN4 |
| Quick links | Entrez ID:261734; HGNC:19104; MIM:607215; Ensembl:ENSG00000131697; HPRD:06238; Vega:OTTHUMG00000000701 |
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:0060041 | retina development in camera-type eye | 105 | 31 | 1.31 | 23.73 | 1.13e-34 | 1.90e-32 |
| GO:0007423 | sensory organ development | 436 | 48 | 5.42 | 8.85 | 3.27e-32 | 3.84e-30 |
| GO:0001654 | eye development | 276 | 39 | 3.43 | 11.36 | 3.01e-30 | 2.94e-28 |
| 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:0043010 | camera-type eye development | 237 | 33 | 2.95 | 11.19 | 2.13e-25 | 1.25e-23 |
| GO:0009416 | response to light stimulus | 203 | 29 | 2.53 | 11.48 | 1.06e-22 | 5.41e-21 |
| GO:0044699 | single-organism process | 7682 | 152 | 95.57 | 1.59 | 9.26e-19 | 3.88e-17 |
| GO:0009314 | response to radiation | 319 | 29 | 3.97 | 7.31 | 3.46e-17 | 1.35e-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:0005929 | cilium | 239 | 55 | 2.61 | 21.10 | 2.59e-58 | 5.08e-56 |
| GO:0042995 | cell projection | 1230 | 67 | 13.42 | 4.99 | 5.15e-30 | 2.02e-28 |
| GO:0005932 | microtubule basal body | 66 | 20 | 0.72 | 27.78 | 5.27e-24 | 1.48e-22 |
| GO:0044463 | cell projection part | 639 | 42 | 6.97 | 6.03 | 2.11e-21 | 5.17e-20 |
| GO:0005815 | microtubule organizing center | 486 | 31 | 5.30 | 5.85 | 1.61e-15 | 2.87e-14 |
| GO:0015630 | microtubule cytoskeleton | 863 | 37 | 9.41 | 3.93 | 5.76e-13 | 8.68e-12 |
| GO:0005813 | centrosome | 376 | 22 | 4.10 | 5.36 | 1.49e-10 | 1.83e-09 |
| GO:0044430 | cytoskeletal part | 1287 | 39 | 14.04 | 2.78 | 3.99e-09 | 3.91e-08 |
| GO:0005856 | cytoskeleton | 1790 | 47 | 19.52 | 2.41 | 7.23e-09 | 6.16e-08 |
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 |
|---|---|---|---|---|---|---|---|
| chr1 | 5921869 | 6053533 | 606966 | Nephronophthisis 4 | 3 | 607215 | 1p36.31 |
| chr1 | 5921869 | 6053533 | 606996 | Senior-Loken syndrome 4 | 3 | 607215 | 1p36.31 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr1 | 5921869 | 6053533 | 261734 | Nphp4 | MGI:2384210 | MP:0001186 | pigmentation phenotype |
| chr1 | 5921869 | 6053533 | 261734 | Nphp4 | MGI:2384210 | MP:0003631 | nervous system phenotype |
| chr1 | 5921869 | 6053533 | 261734 | Nphp4 | MGI:2384210 | MP:0005367 | renal/urinary system phenotype |
| chr1 | 5921869 | 6053533 | 261734 | Nphp4 | MGI:2384210 | MP:0005384 | cellular phenotype |
| chr1 | 5921869 | 6053533 | 261734 | Nphp4 | MGI:2384210 | MP:0005385 | cardiovascular system phenotype |
| chr1 | 5921869 | 6053533 | 261734 | Nphp4 | MGI:2384210 | MP:0005389 | reproductive system phenotype |
| chr1 | 5921869 | 6053533 | 261734 | Nphp4 | MGI:2384210 | MP:0005391 | vision/eye phenotype |
Mutation spectrum
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Gene-disease network
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