I. Expression across cell types
Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| retinal rod cell | 8 studies | 55% ± 36% | |
| retinal cone cell | 7 studies | 62% ± 33% | |
| glutamatergic neuron | 5 studies | 30% ± 12% | |
| GABAergic neuron | 3 studies | 33% ± 16% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| retinal rod cell | 8 studies | 55% ± 36% | |
| retinal cone cell | 7 studies | 62% ± 33% | |
| glutamatergic neuron | 5 studies | 30% ± 12% | |
| GABAergic neuron | 3 studies | 33% ± 16% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| liver | 100% | 780.31 | 226 / 226 | 30% | 1.06 | 121 / 406 |
| adrenal gland | 100% | 106.50 | 258 / 258 | 20% | 0.58 | 45 / 230 |
| heart | 97% | 124.54 | 831 / 861 | 0% | 0 | 0 / 0 |
| brain | 93% | 44.63 | 2451 / 2642 | 0% | 0.00 | 1 / 705 |
| stomach | 91% | 28.15 | 327 / 359 | 1% | 0.02 | 3 / 286 |
| bladder | 90% | 30.10 | 19 / 21 | 1% | 0.22 | 3 / 504 |
| intestine | 91% | 33.26 | 877 / 966 | 0% | 0.00 | 1 / 527 |
| prostate | 90% | 25.88 | 220 / 245 | 0% | 0.01 | 2 / 502 |
| pancreas | 89% | 28.52 | 292 / 328 | 1% | 0.02 | 2 / 178 |
| esophagus | 88% | 26.18 | 1274 / 1445 | 1% | 0.02 | 2 / 183 |
| uterus | 87% | 26.09 | 148 / 170 | 0% | 0.00 | 1 / 459 |
| kidney | 83% | 20.44 | 74 / 89 | 1% | 0.02 | 7 / 901 |
| skin | 81% | 20.97 | 1474 / 1809 | 1% | 0.02 | 6 / 472 |
| breast | 81% | 29.41 | 372 / 459 | 1% | 0.01 | 6 / 1118 |
| ovary | 79% | 25.77 | 143 / 180 | 1% | 0.03 | 6 / 430 |
| lung | 80% | 21.93 | 460 / 578 | 0% | 0.01 | 5 / 1155 |
| thymus | 74% | 16.45 | 484 / 653 | 0% | 0 | 0 / 605 |
| blood vessel | 72% | 16.31 | 962 / 1335 | 0% | 0 | 0 / 0 |
| spleen | 70% | 15.49 | 169 / 241 | 0% | 0 | 0 / 0 |
| adipose | 62% | 13.54 | 747 / 1204 | 0% | 0 | 0 / 0 |
| muscle | 24% | 3.94 | 196 / 803 | 0% | 0 | 0 / 0 |
| peripheral blood | 11% | 1.72 | 102 / 929 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 1% | 0.04 | 1 / 80 |
| abdomen | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| bone marrow | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| diaphragm | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| gingiva | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| lymph node | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 29 |
| nasal cavity | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nasopharynx | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| nose | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 45 |
| ureter | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 1 |
| GO_0007601 | Biological process | visual perception |
| GO_0007605 | Biological process | sensory perception of sound |
| GO_0048496 | Biological process | maintenance of animal organ identity |
| GO_0045184 | Biological process | establishment of protein localization |
| GO_0045494 | Biological process | photoreceptor cell maintenance |
| GO_0042491 | Biological process | inner ear auditory receptor cell differentiation |
| GO_0035315 | Biological process | hair cell differentiation |
| GO_0051649 | Biological process | establishment of localization in cell |
| GO_0050953 | Biological process | sensory perception of light stimulus |
| GO_0060113 | Biological process | inner ear receptor cell differentiation |
| GO_1990075 | Cellular component | periciliary membrane compartment |
| GO_0016324 | Cellular component | apical plasma membrane |
| GO_0032391 | Cellular component | photoreceptor connecting cilium |
| GO_0005576 | Cellular component | extracellular region |
| GO_0002141 | Cellular component | stereocilia ankle link |
| GO_0060171 | Cellular component | stereocilium membrane |
| GO_0043195 | Cellular component | terminal bouton |
| GO_0002142 | Cellular component | stereocilia ankle link complex |
| GO_0001917 | Cellular component | photoreceptor inner segment |
| GO_0043025 | Cellular component | neuronal cell body |
| GO_0032421 | Cellular component | stereocilium bundle |
| GO_0005737 | Cellular component | cytoplasm |
| GO_0005604 | Cellular component | basement membrane |
| GO_0036064 | Cellular component | ciliary basal body |
| GO_1990696 | Cellular component | USH2 complex |
| GO_0017022 | Molecular function | myosin binding |
| GO_0042802 | Molecular function | identical protein binding |
| GO_0005518 | Molecular function | collagen binding |
| GO_0005515 | Molecular function | protein binding |
| Gene name | USH2A |
| Protein name | Usherin (Usher syndrome type IIa protein) (Usher syndrome type-2A protein) |
| Synonyms | |
| Description | FUNCTION: Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the maintenance of the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport. . |
| Accessions | ENST00000674083.1 [O75445-3] O75445 ENST00000366942.3 [O75445-2] ENST00000307340.8 [O75445-1] |
