Name | Number of supported studies | Average coverage | |
---|---|---|---|
natural killer cell | 9 studies | 17% ± 1% | |
non-classical monocyte | 7 studies | 23% ± 6% | |
endothelial cell | 6 studies | 22% ± 6% | |
epithelial cell | 6 studies | 29% ± 13% | |
monocyte | 5 studies | 19% ± 3% | |
macrophage | 5 studies | 24% ± 9% | |
oligodendrocyte | 5 studies | 24% ± 5% | |
type I pneumocyte | 4 studies | 17% ± 2% | |
hematopoietic precursor cell | 4 studies | 21% ± 5% | |
fibroblast | 4 studies | 23% ± 4% | |
astrocyte | 4 studies | 25% ± 7% | |
oligodendrocyte precursor cell | 4 studies | 25% ± 8% | |
mast cell | 3 studies | 20% ± 5% | |
neutrophil | 3 studies | 20% ± 4% | |
classical monocyte | 3 studies | 22% ± 1% | |
conventional dendritic cell | 3 studies | 27% ± 3% | |
ciliated cell | 3 studies | 28% ± 8% | |
abnormal cell | 3 studies | 26% ± 10% | |
GABAergic neuron | 3 studies | 43% ± 1% | |
glutamatergic neuron | 3 studies | 56% ± 6% | |
dendritic cell | 3 studies | 29% ± 10% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
breast | 100% | 2342.56 | 459 / 459 | 100% | 67.08 | 1118 / 1118 |
esophagus | 100% | 3996.42 | 1445 / 1445 | 100% | 41.93 | 183 / 183 |
lung | 100% | 2557.68 | 578 / 578 | 100% | 35.58 | 1155 / 1155 |
brain | 99% | 1641.27 | 2625 / 2642 | 100% | 37.74 | 705 / 705 |
bladder | 100% | 2071.86 | 21 / 21 | 99% | 36.40 | 500 / 504 |
prostate | 100% | 2182.00 | 245 / 245 | 99% | 34.74 | 497 / 502 |
ovary | 100% | 2048.56 | 180 / 180 | 99% | 27.23 | 424 / 430 |
thymus | 100% | 2350.00 | 653 / 653 | 99% | 29.06 | 596 / 605 |
kidney | 100% | 1842.61 | 89 / 89 | 98% | 40.24 | 887 / 901 |
uterus | 100% | 3744.81 | 170 / 170 | 98% | 31.08 | 449 / 459 |
stomach | 99% | 1600.11 | 356 / 359 | 98% | 36.93 | 281 / 286 |
intestine | 100% | 3045.00 | 966 / 966 | 97% | 35.04 | 511 / 527 |
pancreas | 98% | 1291.07 | 323 / 328 | 98% | 25.71 | 175 / 178 |
skin | 100% | 2307.70 | 1802 / 1809 | 93% | 33.00 | 437 / 472 |
liver | 100% | 1214.38 | 225 / 226 | 92% | 18.29 | 375 / 406 |
adrenal gland | 99% | 1959.51 | 256 / 258 | 91% | 18.35 | 209 / 230 |
lymph node | 0% | 0 | 0 / 0 | 100% | 37.78 | 29 / 29 |
spleen | 100% | 2554.05 | 241 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 100% | 36.19 | 45 / 45 |
ureter | 0% | 0 | 0 / 0 | 100% | 26.72 | 1 / 1 |
blood vessel | 100% | 2146.74 | 1334 / 1335 | 0% | 0 | 0 / 0 |
adipose | 100% | 2292.72 | 1203 / 1204 | 0% | 0 | 0 / 0 |
muscle | 100% | 1322.23 | 799 / 803 | 0% | 0 | 0 / 0 |
heart | 94% | 1204.72 | 810 / 861 | 0% | 0 | 0 / 0 |
peripheral blood | 90% | 3232.75 | 833 / 929 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 76% | 20.69 | 61 / 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 |
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_0090656 | Biological process | t-circle formation |
GO_0001832 | Biological process | blastocyst growth |
GO_0031848 | Biological process | protection from non-homologous end joining at telomere |
GO_0090737 | Biological process | telomere maintenance via telomere trimming |
GO_0006302 | Biological process | double-strand break repair |
GO_0050885 | Biological process | neuromuscular process controlling balance |
GO_0097681 | Biological process | double-strand break repair via alternative nonhomologous end joining |
GO_0110025 | Biological process | DNA strand resection involved in replication fork processing |
GO_0000724 | Biological process | double-strand break repair via homologous recombination |
GO_0007095 | Biological process | mitotic G2 DNA damage checkpoint signaling |
GO_0033674 | Biological process | positive regulation of kinase activity |
GO_1904354 | Biological process | negative regulation of telomere capping |
GO_0097193 | Biological process | intrinsic apoptotic signaling pathway |
GO_0051321 | Biological process | meiotic cell cycle |
GO_0000729 | Biological process | DNA double-strand break processing |
GO_0044818 | Biological process | mitotic G2/M transition checkpoint |
GO_0035825 | Biological process | homologous recombination |
GO_0032206 | Biological process | positive regulation of telomere maintenance |
GO_0062176 | Biological process | R-loop processing |
GO_0030174 | Biological process | regulation of DNA-templated DNA replication initiation |
GO_0070534 | Biological process | protein K63-linked ubiquitination |
GO_0000723 | Biological process | telomere maintenance |
GO_0043247 | Biological process | telomere maintenance in response to DNA damage |
GO_1905168 | Biological process | positive regulation of double-strand break repair via homologous recombination |
GO_0007405 | Biological process | neuroblast proliferation |
GO_1990166 | Biological process | protein localization to site of double-strand break |
GO_0031954 | Biological process | positive regulation of protein autophosphorylation |
GO_0045190 | Biological process | isotype switching |
GO_0031860 | Biological process | telomeric 3' overhang formation |
GO_0051726 | Biological process | regulation of cell cycle |
GO_0030330 | Biological process | DNA damage response, signal transduction by p53 class mediator |
GO_0000077 | Biological process | DNA damage checkpoint signaling |
GO_0042405 | Cellular component | nuclear inclusion body |
GO_0005730 | Cellular component | nucleolus |
GO_0030870 | Cellular component | Mre11 complex |
GO_0005657 | Cellular component | replication fork |
GO_0005654 | Cellular component | nucleoplasm |
GO_0005794 | Cellular component | Golgi apparatus |
GO_0005829 | Cellular component | cytosol |
GO_0016605 | Cellular component | PML body |
GO_0070533 | Cellular component | BRCA1-C complex |
GO_0000781 | Cellular component | chromosome, telomeric region |
GO_0035861 | Cellular component | site of double-strand break |
GO_0098687 | Cellular component | chromosomal region |
GO_0005634 | Cellular component | nucleus |
GO_0140297 | Molecular function | DNA-binding transcription factor binding |
GO_0042393 | Molecular function | histone binding |
GO_0140463 | Molecular function | chromatin-protein adaptor activity |
GO_0043539 | Molecular function | protein serine/threonine kinase activator activity |
GO_0140031 | Molecular function | phosphorylation-dependent protein binding |
GO_0005515 | Molecular function | protein binding |
GO_0003684 | Molecular function | damaged DNA binding |
Gene name | NBN |
Protein name | Nibrin Nibrin (Cell cycle regulatory protein p95) (Nijmegen breakage syndrome protein 1) |
Synonyms | NBS P95 hCG_33061 NBS1 |
Description | FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. The complex possesses single-strand endonuclease activity and double-strand-specific 3'-5' exonuclease activity, which are provided by MRE11. RAD50 may be required to bind DNA ends and hold them in close proximity. NBN modulate the DNA damage signal sensing by recruiting PI3/PI4-kinase family members ATM, ATR, and probably DNA-PKcs to the DNA damage sites and activating their functions. It can also recruit MRE11 and RAD50 to the proximity of DSBs by an interaction with the histone H2AX. NBN also functions in telomere length maintenance by generating the 3' overhang which serves as a primer for telomerase dependent telomere elongation. NBN is a major player in the control of intra-S-phase checkpoint and there is some evidence that NBN is involved in G1 and G2 checkpoints. The roles of NBS1/MRN encompass DNA damage sensor, signal transducer, and effector, which enable cells to maintain DNA integrity and genomic stability. Forms a complex with RBBP8 to link DNA double-strand break sensing to resection. Enhances AKT1 phosphorylation possibly by association with the mTORC2 complex. . FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. . FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. . FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. . FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. . FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. . FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. . FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. . FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. . FUNCTION: Component of the MRE11-RAD50-NBN (MRN complex) which plays a critical role in the cellular response to DNA damage and the maintenance of chromosome integrity. The complex is involved in double-strand break (DSB) repair, DNA recombination, maintenance of telomere integrity, cell cycle checkpoint control and meiosis. . |
Accessions | ENST00000396252.6 ENST00000697298.1 ENST00000697303.1 ENST00000697311.1 ENST00000697308.1 ENST00000697300.1 A0A8V8TKY0 ENST00000697299.1 A0A8V8TLA3 A0A087X1V5 ENST00000697312.1 ENST00000517772.5 A0A8V8TMG6 A0A8V8TM80 ENST00000697309.1 A0A8V8TL91 ENST00000697307.1 ENST00000265433.8 ENST00000697293.1 ENST00000697310.1 A0A8V8TL98 A0A8V8TKW6 ENST00000697294.1 ENST00000613033.1 ENST00000697295.1 A0A8V8TM88 ENST00000697301.1 ENST00000519426.5 A0PJ71 E2QRP0 A0A0C4DG07 ENST00000697306.1 A0A8V8TMG0 ENST00000697292.1 A0A8V8TM94 ENST00000697296.1 A0A8V8TL95 E5RGU1 ENST00000517337.2 A0A8V8TMH6 ENST00000697315.1 O60934 A6H8Y5 A0A8V8TKV9 ENST00000523444.2 A0A8V8TMH1 ENST00000409330.5 A0A8V8TKY5 E5RGR7 ENST00000697302.1 ENST00000697304.1 |