Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| epithelial cell of proximal tubule | 6 studies | 23% ± 8% | |
| enterocyte | 6 studies | 30% ± 8% | |
| astrocyte | 5 studies | 26% ± 13% | |
| epithelial cell | 5 studies | 35% ± 8% | |
| Mueller cell | 4 studies | 28% ± 8% | |
| brush cell | 4 studies | 32% ± 8% | |
| pancreatic A cell | 3 studies | 40% ± 19% | |
| goblet cell | 3 studies | 20% ± 4% | |
| enteroendocrine cell | 3 studies | 21% ± 3% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| intestine | 3 studies | 20% ± 3% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| intestine | 90% | 3193.47 | 872 / 966 | 96% | 92.35 | 508 / 527 |
| kidney | 100% | 4587.40 | 89 / 89 | 86% | 91.02 | 779 / 901 |
| pancreas | 96% | 332.16 | 315 / 328 | 85% | 57.65 | 152 / 178 |
| stomach | 87% | 915.18 | 311 / 359 | 93% | 74.17 | 266 / 286 |
| brain | 80% | 857.98 | 2117 / 2642 | 49% | 27.48 | 348 / 705 |
| bladder | 33% | 87.48 | 7 / 21 | 25% | 24.72 | 125 / 504 |
| thymus | 49% | 121.58 | 319 / 653 | 3% | 0.84 | 17 / 605 |
| esophagus | 2% | 5.33 | 25 / 1445 | 46% | 24.33 | 84 / 183 |
| liver | 19% | 29.11 | 44 / 226 | 25% | 16.63 | 103 / 406 |
| lung | 6% | 10.39 | 34 / 578 | 17% | 7.51 | 201 / 1155 |
| uterus | 4% | 7.96 | 6 / 170 | 10% | 5.29 | 45 / 459 |
| adrenal gland | 6% | 12.25 | 15 / 258 | 2% | 0.58 | 5 / 230 |
| breast | 4% | 16.71 | 19 / 459 | 0% | 0.30 | 4 / 1118 |
| ovary | 2% | 6.96 | 4 / 180 | 1% | 0.36 | 3 / 430 |
| blood vessel | 3% | 5.87 | 35 / 1335 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 2% | 0.31 | 1 / 45 |
| adipose | 2% | 2.93 | 26 / 1204 | 0% | 0 | 0 / 0 |
| prostate | 1% | 1.62 | 3 / 245 | 0% | 0.09 | 2 / 502 |
| eye | 0% | 0 | 0 / 0 | 1% | 0.20 | 1 / 80 |
| heart | 1% | 1.81 | 10 / 861 | 0% | 0 | 0 / 0 |
| muscle | 0% | 0.72 | 4 / 803 | 0% | 0 | 0 / 0 |
| skin | 0% | 0.16 | 2 / 1809 | 0% | 0.03 | 1 / 472 |
| peripheral blood | 0% | 0.15 | 1 / 929 | 0% | 0 | 0 / 0 |
| 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 |
| spleen | 0% | 0 | 0 / 241 | 0% | 0 | 0 / 0 |
| ureter | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 1 |
| GO_0007605 | Biological process | sensory perception of sound |
| GO_0032532 | Biological process | regulation of microvillus length |
| GO_0045494 | Biological process | photoreceptor cell maintenance |
| GO_0042491 | Biological process | inner ear auditory receptor cell differentiation |
| GO_0050957 | Biological process | equilibrioception |
| GO_0060122 | Biological process | inner ear receptor cell stereocilium organization |
| GO_0065003 | Biological process | protein-containing complex assembly |
| GO_0051017 | Biological process | actin filament bundle assembly |
| GO_0046549 | Biological process | retinal cone cell development |
| GO_1904970 | Biological process | brush border assembly |
| GO_0050953 | Biological process | sensory perception of light stimulus |
| GO_1904106 | Biological process | protein localization to microvillus |
| GO_0002093 | Biological process | auditory receptor cell morphogenesis |
| GO_0042472 | Biological process | inner ear morphogenesis |
| GO_0000086 | Biological process | G2/M transition of mitotic cell cycle |
| GO_0030046 | Biological process | parallel actin filament bundle assembly |
| GO_0005903 | Cellular component | brush border |
| GO_0005902 | Cellular component | microvillus |
| GO_0032420 | Cellular component | stereocilium |
| GO_0005856 | Cellular component | cytoskeleton |
| GO_0005886 | Cellular component | plasma membrane |
| GO_0001750 | Cellular component | photoreceptor outer segment |
| GO_0002142 | Cellular component | stereocilia ankle link complex |
| GO_0001917 | Cellular component | photoreceptor inner segment |
| GO_0005929 | Cellular component | cilium |
| GO_0005829 | Cellular component | cytosol |
| GO_0045202 | Cellular component | synapse |
| GO_0032426 | Cellular component | stereocilium tip |
| GO_0005737 | Cellular component | cytoplasm |
| GO_0045177 | Cellular component | apical part of cell |
| GO_0030507 | Molecular function | spectrin binding |
| GO_0005515 | Molecular function | protein binding |
| Gene name | USH1C |
| Protein name | USH1 protein network component harmonin Usher syndrome 1C (Autosomal recessive, severe), isoform CRA_a (Usher syndrome 1C isoform 1) Usher syndrome 1C (Autosomal recessive, severe), isoform CRA_d (Usher syndrome 1C isoform 2) Harmonin (Antigen NY-CO-38/NY-CO-37) (Autoimmune enteropathy-related antigen AIE-75) (Protein PDZ-73) (Renal carcinoma antigen NY-REN-3) (Usher syndrome type-1C protein) |
| Synonyms | AIE75 hCG_15638 |
| Description | FUNCTION: Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles (By similarity). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips . . |
| Accessions | ENST00000526313.5 [Q9Y6N9-3] ENST00000527720.5 [Q9Y6N9-2] ENST00000526181.1 Q9Y6N9 ENST00000527020.5 [Q9Y6N9-4] A0A0S2Z4U9 ENST00000005226.12 [Q9Y6N9-5] ENST00000318024.9 [Q9Y6N9-1] E9PNW1 A0A0S2Z4V1 |
