Detailed information for PDE6H
Basic information
| Official symbol | PDE6H |
|---|---|
| Official full name | phosphodiesterase 6H, cGMP-specific, cone, gamma |
| Location | 12p13 |
| Gene type | protein-coding |
| Synonyms | ACHM6|RCD3 |
| Quick links | Entrez ID:5149; HGNC:8790; MIM:601190; Ensembl:ENSG00000139053; HPRD:03116; Vega:OTTHUMG00000168743 |
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:0050953 | sensory perception of light stimulus | 205 | 100 | 2.55 | 39.21 | 8.72e-146 | 1.02e-142 |
| GO:0007601 | visual perception | 204 | 99 | 2.54 | 39.01 | 7.39e-144 | 4.34e-141 |
| GO:0007600 | sensory perception | 495 | 103 | 6.16 | 16.73 | 4.54e-105 | 1.78e-102 |
| GO:0050877 | neurological system process | 1237 | 106 | 15.39 | 6.89 | 1.82e-66 | 5.34e-64 |
| GO:0003008 | system process | 1695 | 108 | 21.09 | 5.12 | 1.12e-54 | 2.63e-52 |
| 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:0032561 | guanyl ribonucleotide binding | 392 | 13 | 4.36 | 2.98 | 0.0004 | 0.0079 |
| GO:0019001 | guanyl nucleotide binding | 392 | 13 | 4.36 | 2.98 | 0.0004 | 0.0079 |
| GO:0005488 | binding | 11955 | 150 | 132.97 | 1.13 | 0.0005 | 0.0090 |
| GO:0043168 | anion binding | 2402 | 40 | 26.72 | 1.50 | 0.0048 | 0.0336 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|---|
| Visual signal transduction: Cones | Pathway commons | 23 | 15 | 0.10 | 144.98 | 1.71e-30 | 8.81e-29 |
PPI related
| ID | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|
| Hsapiens_Module_9 | 127 | 5 | 1.30 | 3.83 | 0.0100 | 0.0350 |
| Hsapiens_Module_250 | 16 | 2 | 0.16 | 12.17 | 0.0114 | 0.0370 |
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr12 | 15124955 | 15135799 | 610024 | Achromatopsia 6 | 3 | 601190 | 12p12.3 |
| chr12 | 15124955 | 15135799 | 610024 | Retinal cone dystrophy 3 | 3 | 601190 | 12p12.3 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr12 | 15124955 | 15135799 | 5149 | Pde6h | MGI:1925850 | - | - |
Mutation spectrum
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Gene-disease network
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