Name | Number of supported studies | Average coverage | |
---|---|---|---|
mast cell | 23 studies | 36% ± 17% | |
macrophage | 16 studies | 33% ± 17% | |
oligodendrocyte | 13 studies | 38% ± 11% | |
fibroblast | 12 studies | 24% ± 8% | |
microglial cell | 11 studies | 28% ± 11% | |
oligodendrocyte precursor cell | 10 studies | 35% ± 16% | |
adipocyte | 8 studies | 27% ± 4% | |
myeloid cell | 7 studies | 38% ± 22% | |
kidney distal convoluted tubule epithelial cell | 6 studies | 38% ± 22% | |
cardiac muscle cell | 6 studies | 62% ± 20% | |
smooth muscle cell | 6 studies | 25% ± 5% | |
monocyte | 6 studies | 29% ± 18% | |
endothelial cell of lymphatic vessel | 5 studies | 30% ± 7% | |
GABAergic neuron | 5 studies | 42% ± 14% | |
melanocyte | 5 studies | 57% ± 19% | |
endothelial cell | 5 studies | 18% ± 2% | |
kidney loop of Henle epithelial cell | 4 studies | 27% ± 10% | |
retinal ganglion cell | 4 studies | 24% ± 8% | |
epithelial cell | 4 studies | 26% ± 8% | |
retinal pigment epithelial cell | 4 studies | 47% ± 11% | |
astrocyte | 4 studies | 38% ± 13% | |
alveolar macrophage | 4 studies | 52% ± 20% | |
myofibroblast cell | 4 studies | 22% ± 3% | |
type I pneumocyte | 4 studies | 22% ± 4% | |
ciliated cell | 3 studies | 23% ± 6% | |
pericyte | 3 studies | 25% ± 2% | |
interneuron | 3 studies | 41% ± 16% | |
renal principal cell | 3 studies | 36% ± 6% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
kidney | 100% | 1808.89 | 89 / 89 | 99% | 28.76 | 894 / 901 |
skin | 98% | 1647.43 | 1775 / 1809 | 99% | 140.94 | 465 / 472 |
thymus | 99% | 1203.57 | 649 / 653 | 86% | 9.87 | 521 / 605 |
breast | 100% | 2403.80 | 459 / 459 | 82% | 7.50 | 919 / 1118 |
prostate | 98% | 1584.18 | 239 / 245 | 84% | 6.39 | 423 / 502 |
lung | 99% | 1530.70 | 572 / 578 | 72% | 5.34 | 834 / 1155 |
uterus | 100% | 8716.48 | 170 / 170 | 59% | 5.85 | 273 / 459 |
stomach | 99% | 1643.06 | 357 / 359 | 59% | 4.51 | 169 / 286 |
esophagus | 86% | 2916.61 | 1239 / 1445 | 62% | 4.47 | 114 / 183 |
ovary | 100% | 2455.93 | 180 / 180 | 41% | 2.32 | 176 / 430 |
bladder | 100% | 2422.48 | 21 / 21 | 40% | 2.73 | 203 / 504 |
intestine | 91% | 2769.29 | 876 / 966 | 41% | 3.04 | 216 / 527 |
pancreas | 35% | 210.85 | 116 / 328 | 86% | 9.23 | 153 / 178 |
brain | 37% | 286.92 | 988 / 2642 | 78% | 4.88 | 548 / 705 |
adrenal gland | 84% | 725.90 | 218 / 258 | 17% | 0.99 | 38 / 230 |
eye | 0% | 0 | 0 / 0 | 100% | 195.48 | 80 / 80 |
muscle | 100% | 6285.88 | 803 / 803 | 0% | 0 | 0 / 0 |
blood vessel | 100% | 1926.06 | 1330 / 1335 | 0% | 0 | 0 / 0 |
adipose | 100% | 2467.05 | 1199 / 1204 | 0% | 0 | 0 / 0 |
heart | 96% | 2601.06 | 826 / 861 | 0% | 0 | 0 / 0 |
lymph node | 0% | 0 | 0 / 0 | 59% | 3.89 | 17 / 29 |
tonsil | 0% | 0 | 0 / 0 | 53% | 2.84 | 24 / 45 |
liver | 3% | 14.50 | 6 / 226 | 16% | 2.39 | 65 / 406 |
spleen | 12% | 62.92 | 28 / 241 | 0% | 0 | 0 / 0 |
peripheral blood | 0% | 2.12 | 4 / 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 |
ureter | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 1 |
GO_0030316 | Biological process | osteoclast differentiation |
GO_0006357 | Biological process | regulation of transcription by RNA polymerase II |
GO_0010628 | Biological process | positive regulation of gene expression |
GO_1902362 | Biological process | melanocyte apoptotic process |
GO_2001141 | Biological process | regulation of RNA biosynthetic process |
GO_0000122 | Biological process | negative regulation of transcription by RNA polymerase II |
GO_0065003 | Biological process | protein-containing complex assembly |
GO_0045670 | Biological process | regulation of osteoclast differentiation |
GO_0030318 | Biological process | melanocyte differentiation |
GO_0046849 | Biological process | bone remodeling |
GO_0045165 | Biological process | cell fate commitment |
GO_0045893 | Biological process | positive regulation of DNA-templated transcription |
GO_0043066 | Biological process | negative regulation of apoptotic process |
GO_2000144 | Biological process | positive regulation of DNA-templated transcription initiation |
GO_0006355 | Biological process | regulation of DNA-templated transcription |
GO_0030336 | Biological process | negative regulation of cell migration |
GO_0043010 | Biological process | camera-type eye development |
GO_0016055 | Biological process | Wnt signaling pathway |
GO_0042127 | Biological process | regulation of cell population proliferation |
GO_0045944 | Biological process | positive regulation of transcription by RNA polymerase II |
GO_0032991 | Cellular component | protein-containing complex |
GO_0005654 | Cellular component | nucleoplasm |
GO_0005737 | Cellular component | cytoplasm |
GO_0000785 | Cellular component | chromatin |
GO_0005765 | Cellular component | lysosomal membrane |
GO_0005634 | Cellular component | nucleus |
GO_0000978 | Molecular function | RNA polymerase II cis-regulatory region sequence-specific DNA binding |
GO_0001228 | Molecular function | DNA-binding transcription activator activity, RNA polymerase II-specific |
GO_0001227 | Molecular function | DNA-binding transcription repressor activity, RNA polymerase II-specific |
GO_0000981 | Molecular function | DNA-binding transcription factor activity, RNA polymerase II-specific |
GO_0003682 | Molecular function | chromatin binding |
GO_0070888 | Molecular function | E-box binding |
GO_0046983 | Molecular function | protein dimerization activity |
GO_0005515 | Molecular function | protein binding |
Gene name | MITF |
Protein name | Microphthalmia-associated transcription factor (Class E basic helix-loop-helix protein 32) (bHLHe32) Melanocyte inducing transcription factor Microphtalmia-associated transcription factor Microphthalmia-associated transcription factor MITF-A |
Synonyms | BHLHE32 |
Description | FUNCTION: Transcription factor that acts as a master regulator of melanocyte survival and differentiation as well as melanosome biogenesis . Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoter of pigmentation genes, such as tyrosinase (TYR) . Involved in the cellular response to amino acid availability by acting downstream of MTOR: in the presence of nutrients, MITF phosphorylation by MTOR promotes its inactivation . Upon starvation or lysosomal stress, inhibition of MTOR induces MITF dephosphorylation, resulting in transcription factor activity . Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1) . Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium . . |
Accessions | ENST00000472437.5 [O75030-12] A0A8F9W6H4 ENST00000314557.10 [O75030-10] A0A8I5KTU3 ENST00000433517.5 C9K0S7 ENST00000352241.9 [O75030-1] ENST00000314589.11 [O75030-8] ENST00000478490.5 A0A8I5KSZ4 A0A8I5KRZ6 ENST00000394351.9 [O75030-9] ENST00000693031.1 O75030 ENST00000642352.1 [O75030-2] ENST00000429090.5 ENST00000394348.2 ENST00000693549.1 C9J845 ENST00000531774.1 [O75030-11] A0A0H3W5T2 ENST00000687384.1 A0A087WXU1 C9JBI8 E9PKJ8 ENST00000451708.5 Q8TF70 A0A0A7NWS7 ENST00000448226.9 [O75030-6] |