Name | Number of supported studies | Average coverage | |
---|---|---|---|
endothelial cell | 3 studies | 21% ± 1% | |
epithelial cell | 3 studies | 25% ± 8% | |
GABAergic neuron | 3 studies | 34% ± 7% | |
glutamatergic neuron | 3 studies | 43% ± 9% | |
abnormal cell | 3 studies | 17% ± 2% | |
astrocyte | 3 studies | 27% ± 2% | |
oligodendrocyte | 3 studies | 20% ± 3% |
Name | Number of supported studies | Average coverage | |
---|---|---|---|
brain | 4 studies | 31% ± 3% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
brain | 100% | 2548.38 | 2642 / 2642 | 100% | 36.54 | 705 / 705 |
esophagus | 100% | 1588.55 | 1445 / 1445 | 100% | 19.81 | 183 / 183 |
intestine | 100% | 1822.10 | 966 / 966 | 100% | 19.43 | 527 / 527 |
ovary | 100% | 2001.06 | 180 / 180 | 100% | 16.53 | 430 / 430 |
stomach | 100% | 1320.32 | 359 / 359 | 100% | 20.14 | 286 / 286 |
uterus | 100% | 2227.78 | 170 / 170 | 100% | 19.49 | 459 / 459 |
bladder | 100% | 1861.43 | 21 / 21 | 100% | 18.16 | 503 / 504 |
prostate | 100% | 1777.15 | 245 / 245 | 100% | 18.54 | 501 / 502 |
pancreas | 100% | 1050.18 | 327 / 328 | 100% | 18.04 | 178 / 178 |
thymus | 100% | 1849.20 | 653 / 653 | 100% | 21.80 | 603 / 605 |
lung | 100% | 1439.59 | 576 / 578 | 100% | 17.83 | 1154 / 1155 |
breast | 100% | 1874.63 | 459 / 459 | 99% | 19.11 | 1112 / 1118 |
skin | 100% | 1898.12 | 1809 / 1809 | 99% | 20.19 | 469 / 472 |
kidney | 100% | 1345.45 | 89 / 89 | 99% | 16.88 | 893 / 901 |
liver | 100% | 943.88 | 226 / 226 | 99% | 11.42 | 402 / 406 |
adrenal gland | 100% | 1797.90 | 258 / 258 | 98% | 18.88 | 226 / 230 |
adipose | 100% | 1871.64 | 1204 / 1204 | 0% | 0 | 0 / 0 |
blood vessel | 100% | 1851.15 | 1335 / 1335 | 0% | 0 | 0 / 0 |
lymph node | 0% | 0 | 0 / 0 | 100% | 41.91 | 29 / 29 |
muscle | 100% | 2283.52 | 803 / 803 | 0% | 0 | 0 / 0 |
spleen | 100% | 1779.26 | 241 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 100% | 16.83 | 45 / 45 |
ureter | 0% | 0 | 0 / 0 | 100% | 9.75 | 1 / 1 |
eye | 0% | 0 | 0 / 0 | 99% | 17.55 | 79 / 80 |
heart | 99% | 1153.77 | 849 / 861 | 0% | 0 | 0 / 0 |
peripheral blood | 94% | 1192.83 | 876 / 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_0031848 | Biological process | protection from non-homologous end joining at telomere |
GO_0001701 | Biological process | in utero embryonic development |
GO_0032204 | Biological process | regulation of telomere maintenance |
GO_0010629 | Biological process | negative regulation of gene expression |
GO_0031627 | Biological process | telomeric loop formation |
GO_1905778 | Biological process | negative regulation of exonuclease activity |
GO_0008089 | Biological process | anterograde axonal transport |
GO_0010628 | Biological process | positive regulation of gene expression |
GO_0099088 | Biological process | axonal transport of messenger ribonucleoprotein complex |
GO_1905839 | Biological process | negative regulation of telomeric D-loop disassembly |
GO_1903770 | Biological process | negative regulation of beta-galactosidase activity |
GO_1904357 | Biological process | negative regulation of telomere maintenance via telomere lengthening |
GO_0032211 | Biological process | negative regulation of telomere maintenance via telomerase |
GO_1904354 | Biological process | negative regulation of telomere capping |
GO_0016233 | Biological process | telomere capping |
GO_0032208 | Biological process | negative regulation of telomere maintenance via recombination |
GO_0032210 | Biological process | regulation of telomere maintenance via telomerase |
GO_0070198 | Biological process | protein localization to chromosome, telomeric region |
GO_0032206 | Biological process | positive regulation of telomere maintenance |
GO_1904430 | Biological process | negative regulation of t-circle formation |
GO_0006278 | Biological process | RNA-templated DNA biosynthetic process |
GO_1903824 | Biological process | negative regulation of telomere single strand break repair |
GO_0000723 | Biological process | telomere maintenance |
GO_0061820 | Biological process | telomeric D-loop disassembly |
GO_0090398 | Biological process | cellular senescence |
GO_0051000 | Biological process | positive regulation of nitric-oxide synthase activity |
GO_0032214 | Biological process | negative regulation of telomere maintenance via semi-conservative replication |
GO_2000773 | Biological process | negative regulation of cellular senescence |
GO_0000783 | Cellular component | nuclear telomere cap complex |
GO_0005654 | Cellular component | nucleoplasm |
GO_0016604 | Cellular component | nuclear body |
GO_0000781 | Cellular component | chromosome, telomeric region |
GO_0070187 | Cellular component | shelterin complex |
GO_0001673 | Cellular component | male germ cell nucleus |
GO_1904115 | Cellular component | axon cytoplasm |
GO_0005634 | Cellular component | nucleus |
GO_0019899 | Molecular function | enzyme binding |
GO_0042803 | Molecular function | protein homodimerization activity |
GO_0044877 | Molecular function | protein-containing complex binding |
GO_0042162 | Molecular function | telomeric DNA binding |
GO_0003691 | Molecular function | double-stranded telomeric DNA binding |
GO_0003720 | Molecular function | telomerase activity |
GO_0098505 | Molecular function | G-rich strand telomeric DNA binding |
GO_0005515 | Molecular function | protein binding |
Gene name | TERF2 |
Protein name | Telomeric repeat-binding factor 2 (TTAGGG repeat-binding factor 2) (Telomeric DNA-binding protein) Telomeric repeat binding factor 2 |
Synonyms | TRF2 TRBF2 |
Description | FUNCTION: Binds the telomeric double-stranded 5'-TTAGGG-3' repeat and plays a central role in telomere maintenance and protection against end-to-end fusion of chromosomes. In addition to its telomeric DNA-binding role, required to recruit a number of factors and enzymes required for telomere protection, including the shelterin complex, TERF2IP/RAP1 and DCLRE1B/Apollo. Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded 5'-TTAGGG-3' 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. Together with DCLRE1B/Apollo, plays a key role in telomeric loop (T loop) formation by generating 3' single-stranded overhang at the leading end telomeres: T loops have been proposed to protect chromosome ends from degradation and repair. Required both to recruit DCLRE1B/Apollo to telomeres and activate the exonuclease activity of DCLRE1B/Apollo. Preferentially binds to positive supercoiled DNA. Together with DCLRE1B/Apollo, required to control the amount of DNA topoisomerase (TOP1, TOP2A and TOP2B) needed for telomere replication during fork passage and prevent aberrant telomere topology. Recruits TERF2IP/RAP1 to telomeres, thereby participating in to repressing homology-directed repair (HDR), which can affect telomere length. . |
Accessions | ENST00000566750.5 H3BR06 V9GYM1 J3KSZ6 ENST00000569542.6 ENST00000569584.6 ENST00000566051.1 ENST00000254942.8 [Q15554-3] J3KSJ9 ENST00000566257.5 J3KTN8 ENST00000569280.1 ENST00000567296.6 [Q15554-4] ENST00000564982.6 H3BR37 U3KQ35 H3BTA7 ENST00000567841.1 Q15554 |