Name | Number of supported studies  | Average coverage | |
|---|---|---|---|
| endothelial cell | 5 studies | 25% ± 15% | |
| macrophage | 4 studies | 21% ± 6% | |
| epithelial cell | 4 studies | 22% ± 3% | |
| classical monocyte | 3 studies | 19% ± 2% | |
| interneuron | 3 studies | 30% ± 13% | |
| microglial cell | 3 studies | 24% ± 6% | |
| oligodendrocyte precursor cell | 3 studies | 18% ± 2% | |
| GABAergic neuron | 3 studies | 30% ± 4% | |
| glutamatergic neuron | 3 studies | 37% ± 6% | |
| astrocyte | 3 studies | 21% ± 4% |
Name | Number of supported studies | Average coverage | |
|---|---|---|---|
| brain | 5 studies | 27% ± 5% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
|---|---|---|---|---|---|---|
| esophagus | 100% | 7939.81 | 1445 / 1445 | 100% | 32.10 | 183 / 183 |
| skin | 100% | 10667.36 | 1809 / 1809 | 99% | 18.36 | 467 / 472 |
| stomach | 100% | 7297.75 | 359 / 359 | 98% | 23.29 | 281 / 286 |
| breast | 100% | 8845.81 | 459 / 459 | 98% | 20.19 | 1091 / 1118 |
| lung | 100% | 10234.13 | 578 / 578 | 97% | 18.95 | 1117 / 1155 |
| intestine | 100% | 8415.79 | 966 / 966 | 97% | 18.47 | 509 / 527 |
| ovary | 100% | 9726.78 | 180 / 180 | 96% | 18.66 | 412 / 430 |
| thymus | 100% | 12675.71 | 653 / 653 | 95% | 15.77 | 577 / 605 |
| pancreas | 100% | 6628.01 | 327 / 328 | 96% | 14.27 | 170 / 178 |
| adrenal gland | 100% | 7715.08 | 258 / 258 | 94% | 14.71 | 217 / 230 |
| prostate | 100% | 8710.47 | 245 / 245 | 93% | 16.19 | 465 / 502 |
| kidney | 100% | 5629.54 | 89 / 89 | 93% | 14.15 | 834 / 901 |
| bladder | 100% | 7799.67 | 21 / 21 | 92% | 13.12 | 464 / 504 |
| brain | 95% | 5293.83 | 2507 / 2642 | 95% | 15.16 | 672 / 705 |
| uterus | 100% | 11450.72 | 170 / 170 | 90% | 12.53 | 413 / 459 |
| liver | 100% | 3623.26 | 225 / 226 | 62% | 5.57 | 251 / 406 |
| adipose | 100% | 7852.95 | 1204 / 1204 | 0% | 0 | 0 / 0 |
| muscle | 100% | 9107.62 | 803 / 803 | 0% | 0 | 0 / 0 |
| spleen | 100% | 11576.10 | 241 / 241 | 0% | 0 | 0 / 0 |
| ureter | 0% | 0 | 0 / 0 | 100% | 6.07 | 1 / 1 |
| blood vessel | 100% | 7433.76 | 1331 / 1335 | 0% | 0 | 0 / 0 |
| eye | 0% | 0 | 0 / 0 | 99% | 15.44 | 79 / 80 |
| heart | 98% | 5056.34 | 840 / 861 | 0% | 0 | 0 / 0 |
| peripheral blood | 95% | 6514.91 | 883 / 929 | 0% | 0 | 0 / 0 |
| tonsil | 0% | 0 | 0 / 0 | 93% | 17.06 | 42 / 45 |
| lymph node | 0% | 0 | 0 / 0 | 59% | 11.66 | 17 / 29 |
| 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_1904837 | Biological process | beta-catenin-TCF complex assembly |
| GO_0032259 | Biological process | methylation |
| GO_0043627 | Biological process | response to estrogen |
| GO_0033148 | Biological process | positive regulation of intracellular estrogen receptor signaling pathway |
| GO_0031507 | Biological process | heterochromatin formation |
| GO_0001555 | Biological process | oocyte growth |
| GO_0006355 | Biological process | regulation of DNA-templated transcription |
| GO_0008284 | Biological process | positive regulation of cell population proliferation |
| GO_0048477 | Biological process | oogenesis |
| GO_0045944 | Biological process | positive regulation of transcription by RNA polymerase II |
| GO_0005654 | Cellular component | nucleoplasm |
| GO_0044666 | Cellular component | MLL3/4 complex |
| GO_0005634 | Cellular component | nucleus |
| GO_0003677 | Molecular function | DNA binding |
| GO_0042800 | Molecular function | histone H3K4 methyltransferase activity |
| GO_0000976 | Molecular function | transcription cis-regulatory region binding |
| GO_0046872 | Molecular function | metal ion binding |
| GO_0140999 | Molecular function | histone H3K4 trimethyltransferase activity |
| GO_0140945 | Molecular function | histone H3K4 monomethyltransferase activity |
| GO_0003713 | Molecular function | transcription coactivator activity |
| GO_0005515 | Molecular function | protein binding |
| Gene name | KMT2D |
| Protein name | Truncated lysine methyltransferase 2D Lysine methyltransferase 2D Histone-lysine N-methyltransferase 2D (Lysine N-methyltransferase 2D) (EC 2.1.1.364) (ALL1-related protein) (Myeloid/lymphoid or mixed-lineage leukemia protein 2) [histone H3]-lysine(4) N-methyltransferase (EC 2.1.1.364) |
| Synonyms | MLL4 ALR MLL2 |
| Description | FUNCTION: Histone methyltransferase that catalyzes methyl group transfer from S-adenosyl-L-methionine to the epsilon-amino group of 'Lys-4' of histone H3 (H3K4) . Part of chromatin remodeling machinery predominantly forms H3K4me1 methylation marks at active chromatin sites where transcription and DNA repair take place . Acts as a coactivator for estrogen receptor by being recruited by ESR1, thereby activating transcription . . |
| Accessions | ENST00000688411.1 A0A8I5KU33 A0A8I5KSG1 A0A8I5KNS6 O14686 A0A8I5QJD5 ENST00000687241.1 A0A8I5QJE4 ENST00000684428.1 A0A8I5KRH2 ENST00000688095.1 ENST00000687201.1 ENST00000691932.1 A0A8I5KU95 ENST00000301067.12 [O14686-1] ENST00000650290.2 A0A804HJB5 A0A8I5KQD6 A0A8I5KTR4 A0A8I5KX79 ENST00000692465.1 ENST00000686968.1 A0A3B3ISC8 ENST00000691986.1 A0A804HHR9 ENST00000685979.1 A0A8I5QJ79 ENST00000689944.1 ENST00000692637.1 A0A8I5QKP3 ENST00000683543.2 A0A8I5KQ09 A0A8I5KU18 ENST00000685166.1 [O14686-3] ENST00000689143.1 ENST00000691463.1 A0A8I5KYU5 ENST00000689060.1 A0A8I5KPB7 A0A8I5QJD3 ENST00000692841.1 A0A8I5QKN1 A0A8I5QJA0 ENST00000685554.1 ENST00000685024.1 ENST00000686564.1 A0A2S0X0M0 ENST00000685982.1 ENST00000692973.1 A0A8I5KQT2 |
