Detailed information for INPP5E
Basic information
| Official symbol | INPP5E |
|---|---|
| Official full name | inositol polyphosphate-5-phosphatase, 72 kDa |
| Location | 9q34.3 |
| Gene type | protein-coding |
| Synonyms | CORS1|CPD4|JBTS1|MORMS|PPI5PIV |
| Quick links | Entrez ID:56623; HGNC:21474; MIM:613037; Ensembl:ENSG00000148384; HPRD:17151; Vega:OTTHUMG00000020927 |
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: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: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:0005929 | cilium | 239 | 55 | 2.61 | 21.10 | 2.59e-58 | 5.08e-56 |
| 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: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 |
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 |
|---|---|---|---|---|---|---|
| Hsapiens_Module_26 | 697 | 16 | 7.16 | 2.24 | 0.0022 | 0.0114 |
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr9 | 139322066 | 139335256 | 213300 | Joubert syndrome 1 | 3 | 613037 | 9q34.3 |
| chr9 | 139322066 | 139335256 | 610156 | "Mental retardation, truncal obesity, retinal dystrophy, and micropenis" | 3 | 613037 | 9q34.3 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr9 | 139322066 | 139335256 | 56623 | Inpp5e | MGI:1927753 | MP:0003012 | no phenotypic analysis |
| chr9 | 139322066 | 139335256 | 56623 | Inpp5e | MGI:1927753 | MP:0003631 | nervous system phenotype |
| chr9 | 139322066 | 139335256 | 56623 | Inpp5e | MGI:1927753 | MP:0005367 | renal/urinary system phenotype |
| chr9 | 139322066 | 139335256 | 56623 | Inpp5e | MGI:1927753 | MP:0005371 | limbs/digits/tail phenotype |
| chr9 | 139322066 | 139335256 | 56623 | Inpp5e | MGI:1927753 | MP:0005378 | growth/size phenotype |
| chr9 | 139322066 | 139335256 | 56623 | Inpp5e | MGI:1927753 | MP:0005380 | embryogenesis phenotype |
| chr9 | 139322066 | 139335256 | 56623 | Inpp5e | MGI:1927753 | MP:0005381 | digestive/alimentary phenotype |
| chr9 | 139322066 | 139335256 | 56623 | Inpp5e | MGI:1927753 | MP:0005382 | craniofacial phenotype |
| chr9 | 139322066 | 139335256 | 56623 | Inpp5e | MGI:1927753 | MP:0005384 | cellular phenotype |
| chr9 | 139322066 | 139335256 | 56623 | Inpp5e | MGI:1927753 | MP:0005390 | skeleton phenotype |
| chr9 | 139322066 | 139335256 | 56623 | Inpp5e | MGI:1927753 | MP:0005391 | vision/eye phenotype |
| chr9 | 139322066 | 139335256 | 56623 | Inpp5e | MGI:1927753 | MP:0010768 | mortality/aging |
Mutation spectrum
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Gene-disease network
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