Detailed information for GUCA1A
Basic information
| Official symbol | GUCA1A |
|---|---|
| Official full name | guanylate cyclase activator 1A (retina) |
| Location | 6p21.1 |
| Gene type | protein-coding |
| Synonyms | C6orf131|COD3|CORD14|GCAP|GCAP1|GUCA|GUCA1|dJ139D8.6 |
| Quick links | Entrez ID:2978; HGNC:4678; MIM:600364; Ensembl:ENSG00000048545; HPRD:02648; Vega:OTTHUMG00000014696 |
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:0009583 | detection of light stimulus | 47 | 24 | 0.58 | 41.05 | 4.99e-34 | 7.32e-32 |
| GO:0009582 | detection of abiotic stimulus | 83 | 27 | 1.03 | 26.15 | 1.40e-31 | 1.49e-29 |
| GO:0009581 | detection of external stimulus | 100 | 27 | 1.24 | 21.70 | 4.42e-29 | 3.99e-27 |
| 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:0007602 | phototransduction | 37 | 18 | 0.46 | 39.11 | 3.11e-25 | 1.74e-23 |
| GO:0009416 | response to light stimulus | 203 | 29 | 2.53 | 11.48 | 1.06e-22 | 5.41e-21 |
| GO:0051606 | detection of stimulus | 202 | 27 | 2.51 | 10.74 | 2.10e-20 | 9.13e-19 |
| 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:0005488 | binding | 11955 | 150 | 132.97 | 1.13 | 0.0005 | 0.0090 |
| GO:0008048 | calcium sensitive guanylate cyclase activator activity | 5 | 2 | 0.06 | 35.96 | 0.0012 | 0.0153 |
| GO:0010853 | cyclase activator activity | 6 | 2 | 0.07 | 29.97 | 0.0018 | 0.0170 |
| GO:0030250 | guanylate cyclase activator activity | 6 | 2 | 0.07 | 29.97 | 0.0018 | 0.0170 |
| GO:0030249 | guanylate cyclase regulator activity | 7 | 2 | 0.08 | 25.69 | 0.0025 | 0.0226 |
| GO:0010851 | cyclase regulator activity | 8 | 2 | 0.09 | 22.48 | 0.0033 | 0.0275 |
Pathway related
| Term | Surce | Number of reference genes | Number of genes | Expected number | Ratio of enrichment | P-value | Adjusted P-value |
|---|---|---|---|---|---|---|---|
| Visual signal transduction: Rods | Pathway commons | 24 | 17 | 0.11 | 157.47 | 2.08e-35 | 2.14e-33 |
| Visual signal transduction: Cones | Pathway commons | 23 | 15 | 0.10 | 144.98 | 1.71e-30 | 8.81e-29 |
| Phototransduction | KEGG | 29 | 12 | 0.13 | 91.99 | 2.36e-21 | 5.66e-20 |
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 |
|---|---|---|---|---|---|---|---|
| chr6 | 42122143 | 42148794 | 602093 | Cone dystrophy-3 | 3 | 600364 | 6p21.1 |
| chr6 | 42122143 | 42148794 | 602093 | Cone-rod dystrophy 14 | 3 | 600364 | 6p21.1 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr6 | 42122143 | 42148794 | 2978 | Guca1a | MGI:102770 | MP:0003631 | nervous system phenotype |
| chr6 | 42122143 | 42148794 | 2978 | Guca1a | MGI:102770 | MP:0005391 | vision/eye phenotype |
Mutation spectrum
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Gene-disease network
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