Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| endothelial cell | 13 studies | 26% ± 11% | |
| microglial cell | 10 studies | 27% ± 10% | |
| oligodendrocyte | 10 studies | 29% ± 10% | |
| oligodendrocyte precursor cell | 9 studies | 30% ± 13% | |
| astrocyte | 9 studies | 30% ± 12% | |
| glutamatergic neuron | 8 studies | 39% ± 24% | |
| adipocyte | 8 studies | 26% ± 9% | |
| fibroblast | 7 studies | 23% ± 8% | |
| GABAergic neuron | 7 studies | 39% ± 18% | |
| interneuron | 6 studies | 37% ± 20% | |
| macrophage | 6 studies | 29% ± 7% | |
| epithelial cell | 5 studies | 27% ± 13% | |
| neuron | 4 studies | 41% ± 15% | |
| cardiac muscle cell | 4 studies | 19% ± 2% | |
| endothelial cell of lymphatic vessel | 4 studies | 26% ± 2% | |
| pericyte | 4 studies | 21% ± 2% | |
| smooth muscle cell | 4 studies | 18% ± 1% | |
| granule cell | 3 studies | 20% ± 3% | |
| retinal rod cell | 3 studies | 19% ± 2% | |
| dendritic cell | 3 studies | 17% ± 1% | |
| alveolar macrophage | 3 studies | 25% ± 7% | |
| monocyte | 3 studies | 24% ± 2% | |
| type I pneumocyte | 3 studies | 20% ± 6% | |
| lymphocyte | 3 studies | 19% ± 3% | |
| goblet cell | 3 studies | 34% ± 16% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| esophagus | 100% | 1611.16 | 1445 / 1445 | 100% | 14.34 | 183 / 183 |
| breast | 100% | 2246.50 | 459 / 459 | 99% | 18.41 | 1111 / 1118 |
| lung | 99% | 1599.77 | 575 / 578 | 99% | 12.19 | 1147 / 1155 |
| ovary | 100% | 2914.68 | 180 / 180 | 98% | 11.07 | 423 / 430 |
| thymus | 100% | 2201.85 | 653 / 653 | 98% | 13.18 | 595 / 605 |
| brain | 99% | 1284.62 | 2616 / 2642 | 99% | 15.32 | 700 / 705 |
| prostate | 100% | 1936.94 | 245 / 245 | 98% | 12.37 | 492 / 502 |
| pancreas | 100% | 1257.75 | 328 / 328 | 97% | 9.53 | 173 / 178 |
| bladder | 100% | 1867.00 | 21 / 21 | 97% | 12.44 | 488 / 504 |
| uterus | 100% | 2250.15 | 170 / 170 | 97% | 11.84 | 444 / 459 |
| intestine | 100% | 1883.18 | 966 / 966 | 97% | 12.18 | 509 / 527 |
| stomach | 100% | 1402.32 | 359 / 359 | 96% | 12.21 | 275 / 286 |
| kidney | 100% | 1104.03 | 89 / 89 | 92% | 9.84 | 830 / 901 |
| skin | 100% | 2832.21 | 1809 / 1809 | 88% | 9.11 | 414 / 472 |
| liver | 100% | 1059.00 | 226 / 226 | 85% | 6.62 | 346 / 406 |
| adrenal gland | 100% | 1356.74 | 258 / 258 | 80% | 4.44 | 185 / 230 |
| spleen | 100% | 2286.28 | 241 / 241 | 0% | 0 | 0 / 0 |
| ureter | 0% | 0 | 0 / 0 | 100% | 5.52 | 1 / 1 |
| adipose | 100% | 1908.66 | 1202 / 1204 | 0% | 0 | 0 / 0 |
| blood vessel | 100% | 1320.99 | 1331 / 1335 | 0% | 0 | 0 / 0 |
| muscle | 99% | 1002.75 | 796 / 803 | 0% | 0 | 0 / 0 |
| heart | 95% | 775.07 | 817 / 861 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 93% | 9.02 | 42 / 45 |
| lymph node | 0% | 0 | 0 / 0 | 86% | 7.66 | 25 / 29 |
| peripheral blood | 75% | 893.62 | 694 / 929 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 64% | 4.48 | 51 / 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_0006325 | Biological process | chromatin organization |
| GO_0000724 | Biological process | double-strand break repair via homologous recombination |
| GO_1905168 | Biological process | positive regulation of double-strand break repair via homologous recombination |
| GO_0042981 | Biological process | regulation of apoptotic process |
| GO_0045893 | Biological process | positive regulation of DNA-templated transcription |
| GO_0048706 | Biological process | embryonic skeletal system development |
| GO_2000779 | Biological process | regulation of double-strand break repair |
| GO_0045892 | Biological process | negative regulation of DNA-templated transcription |
| GO_0051726 | Biological process | regulation of cell cycle |
| GO_0035267 | Cellular component | NuA4 histone acetyltransferase complex |
| GO_0000786 | Cellular component | nucleosome |
| GO_0035861 | Cellular component | site of double-strand break |
| GO_0005634 | Cellular component | nucleus |
| GO_0035064 | Molecular function | methylated histone binding |
| GO_0062060 | Molecular function | NuA4 histone acetyltransferase complex binding |
| GO_0005515 | Molecular function | protein binding |
| GO_0003682 | Molecular function | chromatin binding |
| GO_0008270 | Molecular function | zinc ion binding |
| Gene name | MBTD1 |
| Protein name | Mbt domain containing 1 Alternative protein MBTD1 MBT domain-containing protein 1 |
| Synonyms | |
| Description | FUNCTION: Chromatin reader component of the NuA4 histone acetyltransferase complex, a multiprotein complex involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A . The NuA4 complex plays a direct role in repair of DNA double-strand breaks (DSBs) by promoting homologous recombination (HR) . MBTD1 specifically recognizes and binds monomethylated and dimethylated 'Lys-20' on histone H4 (H4K20me1 and H4K20me2, respectively) . In the NuA4 complex, MBTD1 promotes recruitment of the complex to H4K20me marks by competing with TP53BP1 for binding to H4K20me . Following recruitment to H4K20me at DNA breaks, the NuA4 complex catalyzes acetylation of 'Lys-15' on histone H2A (H2AK15), blocking the ubiquitination mark required for TP53BP1 localization at DNA breaks, thereby promoting homologous recombination (HR) . . |
| Accessions | ENST00000376381.3 [Q05BQ5-3] ENST00000415868.5 [Q05BQ5-1] Q05BQ5 ENST00000586898.1 K7EQ11 ENST00000586178.6 [Q05BQ5-1] ENST00000405860.7 [Q05BQ5-2] L8E9Z6 |