Detailed information for CLN3
Basic information
| Official symbol | CLRN1 |
|---|---|
| Official full name | clarin 1 |
| Location | 3q25 |
| Gene type | protein-coding |
| Synonyms | RP61|USH3|USH3A |
| Quick links | Entrez ID:7401; HGNC:12605; MIM:606397; Ensembl:ENSG00000163646; HPRD:05905; Vega:OTTHUMG00000140368 |
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:0045494 | photoreceptor cell maintenance | 25 | 22 | 0.31 | 70.74 | 7.36e-40 | 1.44e-37 |
| GO:0043954 | cellular component maintenance | 38 | 22 | 0.47 | 46.54 | 6.20e-33 | 8.09e-31 |
| 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:0030031 | cell projection assembly | 204 | 24 | 2.54 | 9.46 | 6.34e-17 | 2.33e-15 |
| GO:0030030 | cell projection organization | 934 | 46 | 11.62 | 3.96 | 2.85e-16 | 9.84e-15 |
| GO:0042995 | cell projection | 1230 | 67 | 13.42 | 4.99 | 5.15e-30 | 2.02e-28 |
| GO:0005902 | microvillus | 68 | 10 | 0.74 | 13.48 | 3.14e-09 | 3.24e-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 |
|---|
OMIM related
| chromosome | begin | end | disorder MIM number | disorder | phene mapping key | gene/locus MIM number | cytogenetic loaction |
|---|---|---|---|---|---|---|---|
| chr3 | 150643353 | 150691786 | 614180 | Retinitis pigmentosa 61 | 3 | 606397 | 3q25.1 |
| chr3 | 150643353 | 150691786 | 276902 | "Usher syndrome, type 3A" | 3 | 606397 | 3q25.1 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr3 | 150643353 | 150691786 | 7401 | Clrn1 | MGI:2388124 | MP:0003012 | no phenotypic analysis |
| chr3 | 150643353 | 150691786 | 7401 | Clrn1 | MGI:2388124 | MP:0003631 | nervous system phenotype |
| chr3 | 150643353 | 150691786 | 7401 | Clrn1 | MGI:2388124 | MP:0005377 | hearing/vestibular/ear phenotype |
| chr3 | 150643353 | 150691786 | 7401 | Clrn1 | MGI:2388124 | MP:0005386 | behavior/neurological phenotype |
| chr3 | 150643353 | 150691786 | 7401 | Clrn1 | MGI:2388124 | MP:0005391 | vision/eye phenotype |
Mutation spectrum
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Gene-disease network
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