Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| endothelial cell | 6 studies | 22% ± 6% | |
| basal cell | 6 studies | 24% ± 7% | |
| hematopoietic precursor cell | 5 studies | 32% ± 11% | |
| CD4-positive, alpha-beta T cell | 5 studies | 25% ± 14% | |
| erythroblast | 5 studies | 42% ± 20% | |
| epithelial cell | 5 studies | 35% ± 13% | |
| CD8-positive, alpha-beta T cell | 5 studies | 23% ± 11% | |
| natural killer cell | 4 studies | 23% ± 8% | |
| ciliated cell | 3 studies | 23% ± 3% | |
| dendritic cell | 3 studies | 32% ± 10% | |
| abnormal cell | 3 studies | 20% ± 3% | |
| megakaryocyte-erythroid progenitor cell | 3 studies | 43% ± 22% | |
| intestinal crypt stem cell | 3 studies | 23% ± 2% | |
| erythrocyte | 3 studies | 37% ± 15% | |
| transit amplifying cell | 3 studies | 26% ± 1% | |
| plasmacytoid dendritic cell | 3 studies | 18% ± 3% | |
| hematopoietic stem cell | 3 studies | 22% ± 1% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| ovary | 100% | 2925.87 | 180 / 180 | 100% | 48.44 | 430 / 430 |
| stomach | 100% | 2005.47 | 359 / 359 | 100% | 95.87 | 286 / 286 |
| uterus | 100% | 2651.54 | 170 / 170 | 100% | 89.80 | 459 / 459 |
| esophagus | 100% | 2669.41 | 1444 / 1445 | 100% | 78.87 | 183 / 183 |
| intestine | 100% | 2455.74 | 966 / 966 | 100% | 109.47 | 526 / 527 |
| prostate | 100% | 2515.17 | 245 / 245 | 100% | 60.68 | 501 / 502 |
| breast | 100% | 2809.73 | 459 / 459 | 100% | 77.04 | 1115 / 1118 |
| lung | 99% | 2289.01 | 575 / 578 | 100% | 81.44 | 1155 / 1155 |
| brain | 99% | 1618.29 | 2628 / 2642 | 100% | 46.28 | 705 / 705 |
| pancreas | 100% | 2308.70 | 328 / 328 | 99% | 47.48 | 177 / 178 |
| bladder | 100% | 2694.62 | 21 / 21 | 99% | 90.65 | 501 / 504 |
| skin | 100% | 4200.98 | 1809 / 1809 | 99% | 77.58 | 469 / 472 |
| thymus | 100% | 3046.81 | 653 / 653 | 99% | 52.67 | 601 / 605 |
| adrenal gland | 100% | 2450.96 | 258 / 258 | 94% | 33.49 | 216 / 230 |
| kidney | 100% | 1802.10 | 89 / 89 | 93% | 28.71 | 842 / 901 |
| liver | 100% | 1430.45 | 226 / 226 | 88% | 28.96 | 357 / 406 |
| adipose | 100% | 2659.40 | 1204 / 1204 | 0% | 0 | 0 / 0 |
| lymph node | 0% | 0 | 0 / 0 | 100% | 97.68 | 29 / 29 |
| muscle | 100% | 2229.65 | 803 / 803 | 0% | 0 | 0 / 0 |
| spleen | 100% | 3340.75 | 241 / 241 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 100% | 86.46 | 45 / 45 |
| ureter | 0% | 0 | 0 / 0 | 100% | 33.36 | 1 / 1 |
| blood vessel | 100% | 1989.28 | 1334 / 1335 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 98% | 46.73 | 78 / 80 |
| heart | 95% | 1391.09 | 814 / 861 | 0% | 0 | 0 / 0 |
| peripheral blood | 84% | 2595.92 | 782 / 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 |
| 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 |
| GO_1904871 | Biological process | positive regulation of protein localization to Cajal body |
| GO_0000495 | Biological process | box H/ACA sno(s)RNA 3'-end processing |
| GO_0006396 | Biological process | RNA processing |
| GO_1904874 | Biological process | positive regulation of telomerase RNA localization to Cajal body |
| GO_0031118 | Biological process | rRNA pseudouridine synthesis |
| GO_1904851 | Biological process | positive regulation of establishment of protein localization to telomere |
| GO_1904872 | Biological process | regulation of telomerase RNA localization to Cajal body |
| GO_1990481 | Biological process | mRNA pseudouridine synthesis |
| GO_0007004 | Biological process | telomere maintenance via telomerase |
| GO_0090666 | Biological process | scaRNA localization to Cajal body |
| GO_0051973 | Biological process | positive regulation of telomerase activity |
| GO_0000455 | Biological process | enzyme-directed rRNA pseudouridine synthesis |
| GO_0090669 | Biological process | telomerase RNA stabilization |
| GO_0032212 | Biological process | positive regulation of telomere maintenance via telomerase |
| GO_0006364 | Biological process | rRNA processing |
| GO_0031120 | Biological process | snRNA pseudouridine synthesis |
| GO_0005730 | Cellular component | nucleolus |
| GO_0005654 | Cellular component | nucleoplasm |
| GO_0031429 | Cellular component | box H/ACA snoRNP complex |
| GO_0005697 | Cellular component | telomerase holoenzyme complex |
| GO_0001650 | Cellular component | fibrillar center |
| GO_0090661 | Cellular component | box H/ACA telomerase RNP complex |
| GO_0072589 | Cellular component | box H/ACA scaRNP complex |
| GO_0005737 | Cellular component | cytoplasm |
| GO_0005634 | Cellular component | nucleus |
| GO_0034513 | Molecular function | box H/ACA snoRNA binding |
| GO_0003720 | Molecular function | telomerase activity |
| GO_0003723 | Molecular function | RNA binding |
| GO_0070034 | Molecular function | telomerase RNA binding |
| GO_0009982 | Molecular function | pseudouridine synthase activity |
| GO_0005515 | Molecular function | protein binding |
| Gene name | DKC1 |
| Protein name | H/ACA ribonucleoprotein complex subunit DKC1 (EC 5.4.99.-) (CBF5 homolog) (Dyskerin) (Nopp140-associated protein of 57 kDa) (Nucleolar protein NAP57) (Nucleolar protein family A member 4) (snoRNP protein DKC1) Dyskerin pseudouridine synthase 1 Dyskeratosis congenita 1, dyskerin, isoform CRA_c (Dyskerin pseudouridine synthase 1) |
| Synonyms | NOLA4 hCG_18117 |
| Description | FUNCTION: [Isoform 1]: Catalytic subunit of H/ACA small nucleolar ribonucleoprotein (H/ACA snoRNP) complex, which catalyzes pseudouridylation of rRNA . This involves the isomerization of uridine such that the ribose is subsequently attached to C5, instead of the normal N1 . Each rRNA can contain up to 100 pseudouridine ('psi') residues, which may serve to stabilize the conformation of rRNAs. Required for ribosome biogenesis and telomere maintenance . Also required for correct processing or intranuclear trafficking of TERC, the RNA component of the telomerase reverse transcriptase (TERT) holoenzyme . .; FUNCTION: [Isoform 3]: Promotes cell to cell and cell to substratum adhesion, increases the cell proliferation rate and leads to cytokeratin hyper-expression. . |
| Accessions | ENST00000696575.1 O60832 A0A8V8TKY9 ENST00000696588.1 A0A8Q3WLE5 ENST00000696627.1 ENST00000696583.1 ENST00000696578.1 ENST00000696628.1 A0A8Q3SIS9 ENST00000696582.1 H7C2Q2 ENST00000696577.1 A0A8Q3WLG7 A0A8Q3WLE4 C9IYT0 ENST00000369550.10 [O60832-1] A0A8Q3WLW8 ENST00000413910.6 A0A8Q3SIY6 ENST00000696581.1 ENST00000696580.1 A0A8Q3WLD1 ENST00000696587.1 A0A8Q3WLC8 A0A8Q3SIX2 ENST00000426673.6 A0A8Q3SJE8 |