Name | Number of supported studies | Average coverage | |
---|---|---|---|
endothelial cell | 16 studies | 26% ± 9% | |
oligodendrocyte | 10 studies | 30% ± 11% | |
fibroblast | 9 studies | 22% ± 3% | |
adipocyte | 8 studies | 26% ± 6% | |
glutamatergic neuron | 7 studies | 44% ± 24% | |
macrophage | 7 studies | 23% ± 7% | |
oligodendrocyte precursor cell | 7 studies | 28% ± 12% | |
GABAergic neuron | 7 studies | 42% ± 20% | |
interneuron | 6 studies | 38% ± 22% | |
microglial cell | 6 studies | 26% ± 7% | |
epithelial cell | 6 studies | 29% ± 13% | |
astrocyte | 6 studies | 32% ± 10% | |
natural killer cell | 5 studies | 17% ± 1% | |
neuron | 5 studies | 28% ± 12% | |
ciliated cell | 5 studies | 27% ± 7% | |
type II pneumocyte | 5 studies | 20% ± 4% | |
retina horizontal cell | 4 studies | 20% ± 3% | |
endothelial cell of lymphatic vessel | 4 studies | 23% ± 3% | |
type I pneumocyte | 4 studies | 22% ± 4% | |
pericyte | 4 studies | 18% ± 1% | |
smooth muscle cell | 4 studies | 18% ± 1% | |
GABAergic interneuron | 3 studies | 22% ± 4% | |
granule cell | 3 studies | 19% ± 4% | |
cardiac muscle cell | 3 studies | 18% ± 1% | |
myeloid cell | 3 studies | 19% ± 2% | |
rod bipolar cell | 3 studies | 18% ± 2% | |
hepatocyte | 3 studies | 25% ± 10% | |
abnormal cell | 3 studies | 26% ± 8% | |
T cell | 3 studies | 19% ± 2% | |
monocyte | 3 studies | 20% ± 4% | |
goblet cell | 3 studies | 19% ± 2% | |
mast cell | 3 studies | 19% ± 3% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
esophagus | 100% | 2101.44 | 1445 / 1445 | 100% | 5.40 | 183 / 183 |
lung | 100% | 2021.77 | 578 / 578 | 100% | 3.96 | 1153 / 1155 |
ovary | 100% | 2496.28 | 180 / 180 | 100% | 3.42 | 429 / 430 |
breast | 100% | 2314.47 | 459 / 459 | 100% | 3.86 | 1115 / 1118 |
prostate | 100% | 2116.15 | 245 / 245 | 100% | 3.18 | 500 / 502 |
thymus | 100% | 2824.30 | 653 / 653 | 100% | 4.45 | 602 / 605 |
bladder | 100% | 2243.00 | 21 / 21 | 99% | 3.50 | 501 / 504 |
uterus | 100% | 2434.68 | 170 / 170 | 99% | 3.58 | 456 / 459 |
brain | 99% | 1591.86 | 2624 / 2642 | 100% | 4.73 | 705 / 705 |
adrenal gland | 100% | 2127.13 | 258 / 258 | 99% | 4.13 | 228 / 230 |
pancreas | 100% | 1560.95 | 328 / 328 | 98% | 3.35 | 175 / 178 |
kidney | 100% | 1858.46 | 89 / 89 | 98% | 3.60 | 885 / 901 |
intestine | 100% | 2252.26 | 966 / 966 | 98% | 3.38 | 517 / 527 |
stomach | 100% | 1911.24 | 359 / 359 | 98% | 3.76 | 279 / 286 |
liver | 100% | 1257.02 | 226 / 226 | 90% | 1.92 | 366 / 406 |
skin | 100% | 2096.82 | 1809 / 1809 | 90% | 3.24 | 424 / 472 |
blood vessel | 100% | 2206.94 | 1335 / 1335 | 0% | 0 | 0 / 0 |
spleen | 100% | 2600.90 | 241 / 241 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 100% | 2.94 | 45 / 45 |
ureter | 0% | 0 | 0 / 0 | 100% | 2.40 | 1 / 1 |
adipose | 100% | 2274.19 | 1203 / 1204 | 0% | 0 | 0 / 0 |
muscle | 100% | 1546.74 | 802 / 803 | 0% | 0 | 0 / 0 |
heart | 98% | 1338.44 | 845 / 861 | 0% | 0 | 0 / 0 |
lymph node | 0% | 0 | 0 / 0 | 93% | 2.97 | 27 / 29 |
eye | 0% | 0 | 0 / 0 | 63% | 1.55 | 50 / 80 |
peripheral blood | 48% | 842.14 | 446 / 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 |
GO_0045454 | Biological process | cell redox homeostasis |
GO_0001525 | Biological process | angiogenesis |
GO_2000352 | Biological process | negative regulation of endothelial cell apoptotic process |
GO_2000114 | Biological process | regulation of establishment of cell polarity |
GO_0045765 | Biological process | regulation of angiogenesis |
GO_0016525 | Biological process | negative regulation of angiogenesis |
GO_0001937 | Biological process | negative regulation of endothelial cell proliferation |
GO_0003158 | Biological process | endothelium development |
GO_0007264 | Biological process | small GTPase-mediated signal transduction |
GO_0010596 | Biological process | negative regulation of endothelial cell migration |
GO_0033622 | Biological process | integrin activation |
GO_0005615 | Cellular component | extracellular space |
GO_0005856 | Cellular component | cytoskeleton |
GO_0005886 | Cellular component | plasma membrane |
GO_0032991 | Cellular component | protein-containing complex |
GO_0005911 | Cellular component | cell-cell junction |
GO_0005737 | Cellular component | cytoplasm |
GO_0005546 | Molecular function | phosphatidylinositol-4,5-bisphosphate binding |
GO_0030695 | Molecular function | GTPase regulator activity |
GO_0008017 | Molecular function | microtubule binding |
GO_0005515 | Molecular function | protein binding |
Gene name | KRIT1 |
Protein name | Krev interaction trapped protein 1 KRIT1 ankyrin repeat containing Krev interaction trapped protein 1 (Krev interaction trapped 1) (Cerebral cavernous malformations 1 protein) Cerebral cavernous malformations 1 (KRIT1, ankyrin repeat containing, isoform CRA_b) (cDNA FLJ31975 fis, clone NT2RP7008190, highly similar to Krev interaction trapped protein 1) |
Synonyms | CCM1 hCG_1812017 tcag7.266 |
Description | FUNCTION: Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity (By similarity). Negative regulator of angiogenesis. Inhibits endothelial proliferation, apoptosis, migration, lumen formation and sprouting angiogenesis in primary endothelial cells. Promotes AKT phosphorylation in a NOTCH-dependent and independent manner, and inhibits ERK1/2 phosphorylation indirectly through activation of the DELTA-NOTCH cascade. Acts in concert with CDH5 to establish and maintain correct endothelial cell polarity and vascular lumen and these effects are mediated by recruitment and activation of the Par polarity complex and RAP1B. Required for the localization of phosphorylated PRKCZ, PARD3, TIAM1 and RAP1B to the cell junction, and cell junction stabilization. Plays a role in integrin signaling via its interaction with ITGB1BP1; this prevents the interaction between ITGB1 and ITGB1BP1. Microtubule-associated protein that binds to phosphatidylinositol 4,5-bisphosphate (PIP2)-containing membranes in a GTP-bound RAP1-dependent manner. Plays an important role in the maintenance of the intracellular reactive oxygen species (ROS) homeostasis to prevent oxidative cellular damage. Regulates the homeostasis of intracellular ROS through an antioxidant pathway involving FOXO1 and SOD2. Facilitates the down-regulation of cyclin-D1 (CCND1) levels required for cell transition from proliferative growth to quiescence by preventing the accumulation of intracellular ROS through the modulation of FOXO1 and SOD2 levels. May play a role in the regulation of macroautophagy through the down-regulation of the mTOR pathway . . |
Accessions | ENST00000687876.1 A0A8I5KVY1 C9JEW7 ENST00000686043.1 ENST00000433016.6 A0A8I5KX77 ENST00000689539.1 A0A8I5KUF9 ENST00000444960 A0A8I5KVY4 ENST00000692690.1 ENST00000690751.1 A0A8I5KWG2 A0A0C4DG23 ENST00000686785.1 ENST00000686527.1 [O00522-1] ENST00000688404.1 [O00522-1] ENST00000686094.1 [O00522-1] ENST00000688781.1 ENST00000440209.5 ENST00000692157.1 [O00522-1] ENST00000690292.1 O00522 ENST00000412043.6 [O00522-1] ENST00000425073 C9JIY2 C9JJM9 A0A8I5KVW5 ENST00000458177.7 [O00522-1] ENST00000687135.1 [O00522-1] ENST00000690908.1 [O00522-3] A0A8I5KRK7 ENST00000425073.2 [O00522-1] ENST00000691827.1 C9JXI9 A0A8I5KQD8 ENST00000445516.2 ENST00000688314.1 ENST00000684808.1 ENST00000452773.6 ENST00000444960.6 [O00522-1] ENST00000454017.6 A0A8I5KW41 ENST00000394507.5 [O00522-1] C9JD43 C9JF32 ENST00000340022.6 [O00522-1] ENST00000689556.1 [O00522-3] ENST00000686619.1 ENST00000685431.1 ENST00000394505.7 [O00522-1] ENST00000458177 A0A8I5KQH3 C9J718 ENST00000690529.1 [O00522-1] ENST00000692807.1 [O00522-1] ENST00000691239.1 ENST00000693563.1 A4D1F7 ENST00000394503.6 [O00522-3] ENST00000690720.1 [O00522-1] ENST00000688665.1 [O00522-1] |