Detailed information for USH1C
Basic information
| Official symbol | USH1C |
|---|---|
| Official full name | Usher syndrome 1C (autosomal recessive, severe) |
| Location | 11p14.3 |
| Gene type | protein-coding |
| Synonyms | AIE-75|DFNB18|DFNB18A|NY-CO-37|NY-CO-38|PDZ-45|PDZ-73|PDZ-73/NY-CO-38|PDZ73|PDZD7C|ush1cpst |
| Quick links | Entrez ID:10083; HGNC:12597; MIM:605242; Ensembl:ENSG00000006611; HPRD:09241; Vega:OTTHUMG00000166323 |
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:0007423 | sensory organ development | 436 | 48 | 5.42 | 8.85 | 3.27e-32 | 3.84e-30 |
| 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:0048646 | anatomical structure formation involved in morphogenesis | 1594 | 62 | 19.83 | 3.13 | 4.32e-17 | 1.64e-15 |
| GO:0009653 | anatomical structure morphogenesis | 2055 | 70 | 25.56 | 2.74 | 1.99e-16 | 7.08e-15 |
| GO:0048856 | anatomical structure development | 4030 | 102 | 50.13 | 2.03 | 4.19e-16 | 1.33e-14 |
| GO:0032502 | developmental process | 4572 | 104 | 56.88 | 1.83 | 3.53e-13 | 1.04e-11 |
| GO:0005488 | binding | 11955 | 150 | 132.97 | 1.13 | 0.0005 | 0.0090 |
| GO:0005515 | protein binding | 7337 | 102 | 81.61 | 1.25 | 0.0011 | 0.0149 |
| 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 |
| GO:0001917 | photoreceptor inner segment | 20 | 10 | 0.22 | 45.84 | 3.14e-15 | 5.13e-14 |
| GO:0032420 | stereocilium | 23 | 8 | 0.25 | 31.89 | 7.34e-11 | 9.59e-10 |
| GO:0032421 | stereocilium bundle | 27 | 8 | 0.29 | 27.17 | 3.20e-10 | 3.48e-09 |
| GO:0005902 | microvillus | 68 | 10 | 0.74 | 13.48 | 3.14e-09 | 3.24e-08 |
| GO:0005856 | cytoskeleton | 1790 | 47 | 19.52 | 2.41 | 7.23e-09 | 6.16e-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 |
|---|---|---|---|---|---|---|---|
| chr11 | 17514441 | 17566963 | 602092 | "Deafness, autosomal recessive 18A" | 3 | 605242 | 11p15.1 |
| chr11 | 17514441 | 17566963 | 276904 | "Usher syndrome, type 1C" | 3 | 605242 | 11p15.1 |
MGI related
| chromosome | begin | end | gene ID | gene symbol of mouse | MGI | MP | phenotype description |
|---|---|---|---|---|---|---|---|
| chr11 | 17514441 | 17566963 | 10083 | Ush1c | MGI:1919338 | MP:0003631 | nervous system phenotype |
| chr11 | 17514441 | 17566963 | 10083 | Ush1c | MGI:1919338 | MP:0005377 | hearing/vestibular/ear phenotype |
| chr11 | 17514441 | 17566963 | 10083 | Ush1c | MGI:1919338 | MP:0005386 | behavior/neurological phenotype |
| chr11 | 17514441 | 17566963 | 10083 | Ush1c | MGI:1919338 | MP:0005389 | reproductive system phenotype |
| chr11 | 17514441 | 17566963 | 10083 | Ush1c | MGI:1919338 | MP:0005391 | vision/eye phenotype |
Mutation spectrum
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Gene-disease network
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