Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| endothelial cell | 22 studies | 27% ± 12% | |
| fibroblast | 17 studies | 25% ± 9% | |
| pericyte | 17 studies | 23% ± 7% | |
| oligodendrocyte | 12 studies | 36% ± 15% | |
| glutamatergic neuron | 10 studies | 38% ± 25% | |
| microglial cell | 10 studies | 26% ± 9% | |
| natural killer cell | 9 studies | 18% ± 3% | |
| smooth muscle cell | 9 studies | 20% ± 3% | |
| oligodendrocyte precursor cell | 9 studies | 30% ± 14% | |
| astrocyte | 9 studies | 31% ± 13% | |
| endothelial cell of lymphatic vessel | 7 studies | 27% ± 9% | |
| neuron | 7 studies | 33% ± 15% | |
| macrophage | 7 studies | 32% ± 7% | |
| epithelial cell | 7 studies | 35% ± 16% | |
| adipocyte | 7 studies | 25% ± 7% | |
| GABAergic neuron | 7 studies | 43% ± 19% | |
| B cell | 6 studies | 19% ± 2% | |
| interneuron | 6 studies | 44% ± 25% | |
| basal cell | 6 studies | 28% ± 14% | |
| naive thymus-derived CD4-positive, alpha-beta T cell | 5 studies | 19% ± 3% | |
| CD16-negative, CD56-bright natural killer cell, human | 5 studies | 17% ± 2% | |
| CD4-positive, alpha-beta T cell | 5 studies | 19% ± 2% | |
| dendritic cell | 5 studies | 25% ± 7% | |
| lymphocyte | 5 studies | 25% ± 8% | |
| CD8-positive, alpha-beta T cell | 5 studies | 18% ± 2% | |
| T cell | 4 studies | 18% ± 3% | |
| type I pneumocyte | 4 studies | 21% ± 4% | |
| hematopoietic precursor cell | 4 studies | 27% ± 11% | |
| effector memory CD8-positive, alpha-beta T cell | 4 studies | 19% ± 2% | |
| abnormal cell | 4 studies | 32% ± 16% | |
| granule cell | 4 studies | 23% ± 4% | |
| erythroblast | 4 studies | 33% ± 12% | |
| myeloid cell | 4 studies | 24% ± 2% | |
| vein endothelial cell | 4 studies | 24% ± 14% | |
| ciliated cell | 4 studies | 24% ± 8% | |
| muscle cell | 4 studies | 31% ± 15% | |
| mast cell | 4 studies | 22% ± 4% | |
| goblet cell | 4 studies | 33% ± 22% | |
| club cell | 4 studies | 23% ± 7% | |
| classical monocyte | 3 studies | 23% ± 5% | |
| GABAergic interneuron | 3 studies | 26% ± 6% | |
| glial cell | 3 studies | 28% ± 6% | |
| progenitor cell | 3 studies | 27% ± 2% | |
| myofibroblast cell | 3 studies | 26% ± 10% | |
| amacrine cell | 3 studies | 18% ± 2% | |
| retina horizontal cell | 3 studies | 25% ± 4% | |
| CD8-positive, alpha-beta memory T cell | 3 studies | 18% ± 3% | |
| regulatory T cell | 3 studies | 18% ± 1% | |
| connective tissue cell | 3 studies | 23% ± 3% | |
| megakaryocyte-erythroid progenitor cell | 3 studies | 35% ± 12% | |
| monocyte | 3 studies | 21% ± 2% | |
| gamma-delta T cell | 3 studies | 24% ± 11% | |
| transit amplifying cell | 3 studies | 40% ± 26% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| esophagus | 100% | 3085.78 | 1445 / 1445 | 100% | 20.88 | 183 / 183 |
| lung | 100% | 3496.67 | 578 / 578 | 100% | 12.62 | 1150 / 1155 |
| breast | 100% | 4364.00 | 459 / 459 | 99% | 16.31 | 1108 / 1118 |
| brain | 99% | 2963.57 | 2625 / 2642 | 99% | 11.32 | 701 / 705 |
| ovary | 100% | 4803.96 | 180 / 180 | 99% | 8.52 | 424 / 430 |
| pancreas | 100% | 2060.74 | 327 / 328 | 99% | 10.19 | 176 / 178 |
| uterus | 100% | 4547.98 | 170 / 170 | 98% | 12.80 | 449 / 459 |
| prostate | 100% | 3236.56 | 245 / 245 | 97% | 9.29 | 488 / 502 |
| thymus | 100% | 3661.86 | 653 / 653 | 97% | 9.27 | 587 / 605 |
| intestine | 100% | 3378.08 | 966 / 966 | 97% | 10.95 | 509 / 527 |
| stomach | 100% | 2464.54 | 359 / 359 | 97% | 12.88 | 276 / 286 |
| bladder | 100% | 3534.19 | 21 / 21 | 96% | 10.29 | 486 / 504 |
| kidney | 100% | 1897.18 | 89 / 89 | 91% | 10.91 | 820 / 901 |
| skin | 100% | 4583.88 | 1809 / 1809 | 90% | 12.36 | 423 / 472 |
| adrenal gland | 100% | 2570.76 | 258 / 258 | 89% | 6.47 | 205 / 230 |
| liver | 100% | 1407.58 | 226 / 226 | 67% | 4.75 | 270 / 406 |
| blood vessel | 100% | 3639.22 | 1335 / 1335 | 0% | 0 | 0 / 0 |
| muscle | 100% | 5361.32 | 803 / 803 | 0% | 0 | 0 / 0 |
| spleen | 100% | 2957.28 | 241 / 241 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 100% | 14.47 | 45 / 45 |
| ureter | 0% | 0 | 0 / 0 | 100% | 4.11 | 1 / 1 |
| adipose | 100% | 3994.53 | 1203 / 1204 | 0% | 0 | 0 / 0 |
| heart | 96% | 1620.14 | 827 / 861 | 0% | 0 | 0 / 0 |
| lymph node | 0% | 0 | 0 / 0 | 93% | 8.10 | 27 / 29 |
| peripheral blood | 57% | 1991.95 | 533 / 929 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 54% | 3.78 | 43 / 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_0045814 | Biological process | negative regulation of gene expression, epigenetic |
| GO_0006281 | Biological process | DNA repair |
| GO_1990830 | Biological process | cellular response to leukemia inhibitory factor |
| GO_0006974 | Biological process | DNA damage response |
| GO_0000122 | Biological process | negative regulation of transcription by RNA polymerase II |
| GO_0031509 | Biological process | subtelomeric heterochromatin formation |
| GO_0000723 | Biological process | telomere maintenance |
| GO_0043247 | Biological process | telomere maintenance in response to DNA damage |
| GO_2000042 | Biological process | negative regulation of double-strand break repair via homologous recombination |
| GO_2001034 | Biological process | positive regulation of double-strand break repair via nonhomologous end joining |
| GO_0045830 | Biological process | positive regulation of isotype switching |
| GO_0035019 | Biological process | somatic stem cell population maintenance |
| GO_0001939 | Cellular component | female pronucleus |
| GO_0005886 | Cellular component | plasma membrane |
| GO_0005654 | Cellular component | nucleoplasm |
| GO_0051233 | Cellular component | spindle midzone |
| GO_0140445 | Cellular component | chromosome, telomeric repeat region |
| GO_0005737 | Cellular component | cytoplasm |
| GO_0001940 | Cellular component | male pronucleus |
| GO_0000793 | Cellular component | condensed chromosome |
| GO_0000785 | Cellular component | chromatin |
| GO_0031965 | Cellular component | nuclear membrane |
| GO_0035861 | Cellular component | site of double-strand break |
| GO_0005634 | Cellular component | nucleus |
| GO_0005515 | Molecular function | protein binding |
| Gene name | RIF1 |
| Protein name | Telomere-associated protein RIF1 (Rap1-interacting factor 1 homolog) Replication timing regulatory factor 1 |
| Synonyms | |
| Description | FUNCTION: Key regulator of TP53BP1 that plays a key role in the repair of double-strand DNA breaks (DSBs) in response to DNA damage: acts by promoting non-homologous end joining (NHEJ)-mediated repair of DSBs . In response to DNA damage, interacts with ATM-phosphorylated TP53BP1 . Interaction with TP53BP1 leads to dissociate the interaction between NUDT16L1/TIRR and TP53BP1, thereby unmasking the tandem Tudor-like domain of TP53BP1 and allowing recruitment to DNA DSBs . Once recruited to DSBs, RIF1 and TP53BP1 act by promoting NHEJ-mediated repair of DSBs . In the same time, RIF1 and TP53BP1 specifically counteract the function of BRCA1 by blocking DSBs resection via homologous recombination (HR) during G1 phase . Also required for immunoglobulin class-switch recombination (CSR) during antibody genesis, a process that involves the generation of DNA DSBs (By similarity). Promotes NHEJ of dysfunctional telomeres (By similarity). . |
| Accessions | ENST00000444746.7 [Q5UIP0-1] H7BZN3 ENST00000243326.9 [Q5UIP0-1] Q5UIP0 ENST00000454583.6 ENST00000453091.6 [Q5UIP0-2] ENST00000414861.6 H7C2B5 ENST00000430328.6 [Q5UIP0-2] ENST00000428287.6 [Q5UIP0-2] |