Detailed information for BEST1
Basic information
| Official symbol | BEST1 |
|---|---|
| Official full name | bestrophin 1 |
| Location | 11q13 |
| Gene type | protein-coding |
| Synonyms | ARB|BEST|BMD|RP50|TU15B|VMD2 |
| Quick links | Entrez ID:7439; HGNC:12703; MIM:607854; Ensembl:ENSG00000167995; HPRD:01094; Vega:OTTHUMG00000167469 |
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:0009584 | detection of visible light | 22 | 16 | 0.27 | 58.46 | 1.18e-26 | 7.70e-25 |
| 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:0044459 | plasma membrane part | 1918 | 41 | 20.92 | 1.96 | 1.68e-05 | 9.98e-05 |
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 |
|---|---|---|---|---|---|---|---|
| chr11 | 61716355 | 61732066 | 153700 | Best macular dystrophy | 3 | 607854 | 11q12.3 |
| chr11 | 61716355 | 61732066 | 611809 | Bestrophinopathy | 3 | 607854 | 11q12.3 |
| chr11 | 61716355 | 61732066 | - | "Maculopathy, bull's-eye" | 3 | 607854 | 11q12.3 |
| chr11 | 61716355 | 61732066 | 193220 | "Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma" | 3 | 607854 | 11q12.3 |
| chr11 | 61716355 | 61732066 | 613194 | "Retinitis pigmentosa, concentric" | 3 | 607854 | 11q12.3 |
| chr11 | 61716355 | 61732066 | 613194 | Retinitis pigmentosa-50 | 3 | 607854 | 11q12.3 |
| chr11 | 61716355 | 61732066 | 608161 | "Vitelliform macular dystrophy, adult-onset" | 3 | 607854 | 11q12.3 |
| chr11 | 61716355 | 61732066 | 193220 | Vitreoretinochoroidopathy | 3 | 607854 | 11q12.3 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr11 | 61716355 | 61732066 | 7439 | Best1 | MGI:1346332 | MP:0001186 | pigmentation phenotype |
| chr11 | 61716355 | 61732066 | 7439 | Best1 | MGI:1346332 | MP:0005391 | vision/eye phenotype |
Mutation spectrum
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Gene-disease network
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