Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| astrocyte | 6 studies | 31% ± 14% | |
| oligodendrocyte | 6 studies | 26% ± 8% | |
| glutamatergic neuron | 5 studies | 42% ± 17% | |
| oligodendrocyte precursor cell | 5 studies | 24% ± 6% | |
| endothelial cell | 4 studies | 26% ± 8% | |
| GABAergic neuron | 4 studies | 39% ± 14% | |
| microglial cell | 3 studies | 19% ± 1% | |
| cardiac muscle cell | 3 studies | 17% ± 1% | |
| interneuron | 3 studies | 44% ± 18% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| brain | 6 studies | 36% ± 13% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| uterus | 100% | 1369.35 | 170 / 170 | 100% | 9.44 | 458 / 459 |
| brain | 100% | 858.81 | 2636 / 2642 | 100% | 14.79 | 705 / 705 |
| ovary | 100% | 1360.18 | 180 / 180 | 100% | 10.35 | 429 / 430 |
| breast | 100% | 1324.80 | 459 / 459 | 100% | 13.67 | 1115 / 1118 |
| lung | 100% | 1082.59 | 577 / 578 | 100% | 10.33 | 1151 / 1155 |
| prostate | 100% | 1037.60 | 245 / 245 | 99% | 9.43 | 499 / 502 |
| thymus | 100% | 1353.01 | 653 / 653 | 99% | 10.13 | 601 / 605 |
| esophagus | 100% | 921.13 | 1444 / 1445 | 99% | 9.51 | 181 / 183 |
| bladder | 100% | 1320.62 | 21 / 21 | 99% | 9.26 | 497 / 504 |
| kidney | 100% | 915.55 | 89 / 89 | 99% | 10.70 | 888 / 901 |
| intestine | 100% | 1025.97 | 965 / 966 | 98% | 8.03 | 516 / 527 |
| pancreas | 98% | 509.31 | 323 / 328 | 99% | 8.20 | 176 / 178 |
| stomach | 100% | 722.20 | 359 / 359 | 97% | 8.20 | 278 / 286 |
| adrenal gland | 100% | 1218.93 | 258 / 258 | 97% | 9.03 | 223 / 230 |
| skin | 100% | 1043.09 | 1808 / 1809 | 96% | 11.46 | 453 / 472 |
| liver | 100% | 596.52 | 226 / 226 | 92% | 4.65 | 372 / 406 |
| blood vessel | 100% | 1301.40 | 1335 / 1335 | 0% | 0 | 0 / 0 |
| lymph node | 0% | 0 | 0 / 0 | 100% | 8.41 | 29 / 29 |
| spleen | 100% | 1364.28 | 241 / 241 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 100% | 7.42 | 45 / 45 |
| ureter | 0% | 0 | 0 / 0 | 100% | 6.66 | 1 / 1 |
| adipose | 100% | 1200.16 | 1203 / 1204 | 0% | 0 | 0 / 0 |
| heart | 98% | 786.99 | 848 / 861 | 0% | 0 | 0 / 0 |
| muscle | 98% | 470.05 | 790 / 803 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 83% | 5.07 | 66 / 80 |
| peripheral blood | 82% | 918.73 | 759 / 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_0032508 | Biological process | DNA duplex unwinding |
| GO_1905774 | Biological process | regulation of DNA helicase activity |
| GO_0051974 | Biological process | negative regulation of telomerase activity |
| GO_0032202 | Biological process | telomere assembly |
| GO_0060383 | Biological process | positive regulation of DNA strand elongation |
| GO_0032211 | Biological process | negative regulation of telomere maintenance via telomerase |
| GO_2001032 | Biological process | regulation of double-strand break repair via nonhomologous end joining |
| GO_0016233 | Biological process | telomere capping |
| GO_0032210 | Biological process | regulation of telomere maintenance via telomerase |
| GO_0032206 | Biological process | positive regulation of telomere maintenance |
| GO_0051973 | Biological process | positive regulation of telomerase activity |
| GO_0061820 | Biological process | telomeric D-loop disassembly |
| GO_0070200 | Biological process | establishment of protein localization to telomere |
| GO_0032212 | Biological process | positive regulation of telomere maintenance via telomerase |
| GO_1905776 | Biological process | positive regulation of DNA helicase activity |
| GO_0007004 | Biological process | telomere maintenance via telomerase |
| GO_0051096 | Biological process | positive regulation of helicase activity |
| GO_0000783 | Cellular component | nuclear telomere cap complex |
| GO_0005654 | Cellular component | nucleoplasm |
| GO_0000781 | Cellular component | chromosome, telomeric region |
| GO_0070187 | Cellular component | shelterin complex |
| GO_0061821 | Molecular function | telomeric D-loop binding |
| GO_1905773 | Molecular function | 8-hydroxy-2'-deoxyguanosine DNA binding |
| GO_0043047 | Molecular function | single-stranded telomeric DNA binding |
| GO_0042162 | Molecular function | telomeric DNA binding |
| GO_0061849 | Molecular function | telomeric G-quadruplex DNA binding |
| GO_0010521 | Molecular function | telomerase inhibitor activity |
| GO_0017151 | Molecular function | DEAD/H-box RNA helicase binding |
| GO_0098505 | Molecular function | G-rich strand telomeric DNA binding |
| GO_1990955 | Molecular function | G-rich single-stranded DNA binding |
| GO_0005515 | Molecular function | protein binding |
| Gene name | POT1 |
| Protein name | Protection of telomeres protein 1 Protection of telomeres 1 (Protection of telomeres protein 1 variant 4) Protection of telomeres protein 1 (hPot1) (POT1-like telomere end-binding protein) Protection of telomeres 1 |
| Synonyms | hCG_32923 |
| Description | FUNCTION: Component of the telomerase ribonucleoprotein (RNP) complex that is essential for the replication of chromosome termini. Is a component of the double-stranded telomeric DNA-binding TRF1 complex which is involved in the regulation of telomere length by cis-inhibition of telomerase. Also acts as a single-stranded telomeric DNA-binding protein and thus may act as a downstream effector of the TRF1 complex and may transduce information about telomere maintenance and/or length to the telomere terminus. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomerase and protects chromosome ends; without its protective activity, telomeres are no longer hidden from the DNA damage surveillance and chromosome ends are inappropriately processed by DNA repair pathways. Binds to two or more telomeric single-stranded 5'-TTAGGG-3' repeats (G-strand) and with high specificity to a minimal telomeric single-stranded 5'-TAGGGTTAG-3' sequence. Binds telomeric single-stranded sequences internally or at proximity of a 3'-end. Its activity is TERT dependent but it does not increase TERT activity by itself. In contrast, the ACD-POT1 heterodimer enhances telomere elongation by increasing telomerase processivity. . |
| Accessions | ENST00000430927.6 ENST00000661898.1 ENST00000653241.1 [Q9NUX5-1] Q5MJ33 ENST00000609702.5 ENST00000657892.1 ENST00000357628.8 [Q9NUX5-1] Q5MJ35 A0A590UJR1 C9JPG9 ENST00000654766.1 ENST00000607932.5 A0A590UJM4 A0A590UJF2 ENST00000609106.5 ENST00000446993.6 ENST00000608057.5 A0A590UJP0 ENST00000429326.6 ENST00000653819.1 ENST00000664366.1 [Q9NUX5-1] B7Z7M5 ENST00000657333.1 ENST00000668382.1 [Q9NUX5-1] Q5MJ34 ENST00000653892.1 V9GZ00 ENST00000653274.1 ENST00000393329.5 ENST00000662531.1 ENST00000664330.1 A8MTK3 Q9NUX5 A0A590UJF7 ENST00000655761.1 [Q9NUX5-1] |
