Detailed information for CRB1
Basic information
| Official symbol | CNGB3 |
|---|---|
| Official full name | cyclic nucleotide gated channel beta 3 |
| Location | 8q21.3 |
| Gene type | protein-coding |
| Synonyms | ACHM1 |
| Quick links | Entrez ID:54714; HGNC:2153; MIM:605080; Ensembl:ENSG00000170289; HPRD:05468; Vega:OTTHUMG00000163738 |
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:0030553 | cGMP binding | 12 | 6 | 0.13 | 44.95 | 1.52e-09 | 3.30e-07 |
| GO:0030551 | cyclic nucleotide binding | 28 | 6 | 0.31 | 19.27 | 5.33e-07 | 2.89e-05 |
| 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 |
| GO:0005929 | cilium | 239 | 55 | 2.61 | 21.10 | 2.59e-58 | 5.08e-56 |
| GO:0031513 | nonmotile primary cilium | 80 | 32 | 0.87 | 36.67 | 1.40e-42 | 1.37e-40 |
| GO:0072372 | primary cilium | 96 | 33 | 1.05 | 31.52 | 2.93e-41 | 1.91e-39 |
| GO:0042995 | cell projection | 1230 | 67 | 13.42 | 4.99 | 5.15e-30 | 2.02e-28 |
| GO:0001750 | photoreceptor outer segment | 37 | 19 | 0.40 | 47.08 | 3.03e-28 | 9.90e-27 |
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 |
|---|
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr8 | 87585162 | 87756903 | 262300 | Achromatopsia-3 | 3 | 605080 | 8q21.3 |
| chr8 | 87585162 | 87756903 | 248200 | "Macular degeneration, juvenile" | 3 | 605080 | 8q21.3 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr8 | 87585162 | 87756903 | 54714 | Cngb3 | MGI:1353562 | MP:0003631 | nervous system phenotype |
| chr8 | 87585162 | 87756903 | 54714 | Cngb3 | MGI:1353562 | MP:0005384 | cellular phenotype |
| chr8 | 87585162 | 87756903 | 54714 | Cngb3 | MGI:1353562 | MP:0005391 | vision/eye phenotype |
Mutation spectrum
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Gene-disease network
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