Name | Number of supported studies | Average coverage | |
---|---|---|---|
classical monocyte | 22 studies | 25% ± 8% | |
non-classical monocyte | 18 studies | 30% ± 11% | |
macrophage | 16 studies | 27% ± 13% | |
monocyte | 15 studies | 27% ± 10% | |
ciliated cell | 14 studies | 30% ± 14% | |
microglial cell | 9 studies | 28% ± 11% | |
myeloid cell | 8 studies | 23% ± 6% | |
dendritic cell | 6 studies | 28% ± 11% | |
astrocyte | 6 studies | 24% ± 7% | |
mononuclear phagocyte | 5 studies | 21% ± 3% | |
Mueller cell | 5 studies | 36% ± 16% | |
GABAergic neuron | 5 studies | 40% ± 16% | |
oligodendrocyte | 5 studies | 23% ± 4% | |
interneuron | 5 studies | 32% ± 20% | |
conventional dendritic cell | 4 studies | 25% ± 7% | |
neuron | 4 studies | 23% ± 8% | |
endothelial cell | 4 studies | 22% ± 6% | |
epithelial cell | 4 studies | 34% ± 10% | |
glutamatergic neuron | 4 studies | 51% ± 19% | |
retinal ganglion cell | 3 studies | 32% ± 7% | |
oligodendrocyte precursor cell | 3 studies | 21% ± 4% | |
alveolar macrophage | 3 studies | 33% ± 14% | |
neutrophil | 3 studies | 21% ± 4% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
prostate | 100% | 2081.91 | 245 / 245 | 100% | 13.59 | 502 / 502 |
thymus | 100% | 3139.03 | 653 / 653 | 99% | 10.41 | 597 / 605 |
uterus | 100% | 2368.90 | 170 / 170 | 97% | 7.40 | 445 / 459 |
lung | 100% | 4104.17 | 578 / 578 | 97% | 9.03 | 1119 / 1155 |
brain | 97% | 2540.78 | 2570 / 2642 | 99% | 12.27 | 701 / 705 |
intestine | 100% | 1768.32 | 965 / 966 | 96% | 6.65 | 506 / 527 |
esophagus | 100% | 1450.21 | 1441 / 1445 | 96% | 8.58 | 176 / 183 |
ovary | 100% | 5121.97 | 180 / 180 | 96% | 6.39 | 412 / 430 |
breast | 100% | 2113.54 | 459 / 459 | 95% | 6.45 | 1067 / 1118 |
adrenal gland | 100% | 1430.40 | 258 / 258 | 95% | 10.98 | 218 / 230 |
pancreas | 97% | 945.36 | 318 / 328 | 96% | 7.00 | 171 / 178 |
stomach | 98% | 1280.87 | 352 / 359 | 95% | 6.99 | 271 / 286 |
bladder | 100% | 1606.14 | 21 / 21 | 91% | 5.91 | 461 / 504 |
kidney | 91% | 909.97 | 81 / 89 | 92% | 6.19 | 830 / 901 |
skin | 97% | 1421.17 | 1761 / 1809 | 80% | 4.24 | 379 / 472 |
liver | 94% | 907.69 | 212 / 226 | 66% | 3.09 | 269 / 406 |
spleen | 100% | 3426.11 | 241 / 241 | 0% | 0 | 0 / 0 |
ureter | 0% | 0 | 0 / 0 | 100% | 3.13 | 1 / 1 |
blood vessel | 100% | 1906.50 | 1333 / 1335 | 0% | 0 | 0 / 0 |
adipose | 100% | 2220.81 | 1202 / 1204 | 0% | 0 | 0 / 0 |
muscle | 99% | 1549.00 | 794 / 803 | 0% | 0 | 0 / 0 |
peripheral blood | 98% | 3641.47 | 915 / 929 | 0% | 0 | 0 / 0 |
heart | 93% | 1135.79 | 800 / 861 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 91% | 7.80 | 41 / 45 |
lymph node | 0% | 0 | 0 / 0 | 79% | 5.98 | 23 / 29 |
eye | 0% | 0 | 0 / 0 | 53% | 2.39 | 42 / 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_0006897 | Biological process | endocytosis |
GO_0110053 | Biological process | regulation of actin filament organization |
GO_0034063 | Biological process | stress granule assembly |
GO_0043547 | Biological process | positive regulation of GTPase activity |
GO_1903432 | Biological process | regulation of TORC1 signaling |
GO_0032880 | Biological process | regulation of protein localization |
GO_0001933 | Biological process | negative regulation of protein phosphorylation |
GO_0010506 | Biological process | regulation of autophagy |
GO_0016239 | Biological process | positive regulation of macroautophagy |
GO_1902774 | Biological process | late endosome to lysosome transport |
GO_2000785 | Biological process | regulation of autophagosome assembly |
GO_0048675 | Biological process | axon extension |
GO_0006914 | Biological process | autophagy |
GO_0005615 | Cellular component | extracellular space |
GO_0032045 | Cellular component | guanyl-nucleotide exchange factor complex |
GO_0043204 | Cellular component | perikaryon |
GO_0005764 | Cellular component | lysosome |
GO_0098794 | Cellular component | postsynapse |
GO_0044304 | Cellular component | main axon |
GO_0030425 | Cellular component | dendrite |
GO_0000932 | Cellular component | P-body |
GO_0090543 | Cellular component | Flemming body |
GO_0005829 | Cellular component | cytosol |
GO_1990316 | Cellular component | Atg1/ULK1 kinase complex |
GO_0044295 | Cellular component | axonal growth cone |
GO_0005737 | Cellular component | cytoplasm |
GO_0005776 | Cellular component | autophagosome |
GO_0043231 | Cellular component | intracellular membrane-bounded organelle |
GO_0099523 | Cellular component | presynaptic cytosol |
GO_0005768 | Cellular component | endosome |
GO_0031965 | Cellular component | nuclear membrane |
GO_0010494 | Cellular component | cytoplasmic stress granule |
GO_0005634 | Cellular component | nucleus |
GO_0005085 | Molecular function | guanyl-nucleotide exchange factor activity |
GO_0031267 | Molecular function | small GTPase binding |
GO_0005515 | Molecular function | protein binding |
Gene name | C9orf72 |
Protein name | C9orf72-SMCR8 complex subunit Guanine nucleotide exchange factor C9orf72 |
Synonyms | DENNL72 DENND9 |
Description | FUNCTION: Component of the C9orf72-SMCR8 complex, a complex that has guanine nucleotide exchange factor (GEF) activity and regulates autophagy . In the complex, C9orf72 and SMCR8 probably constitute the catalytic subunits that promote the exchange of GDP to GTP, converting inactive GDP-bound RAB8A and RAB39B into their active GTP-bound form, thereby promoting autophagosome maturation . The C9orf72-SMCR8 complex also acts as a regulator of autophagy initiation by interacting with the ULK1/ATG1 kinase complex and modulating its protein kinase activity . As part of the C9orf72-SMCR8 complex, stimulates RAB8A and RAB11A GTPase activity in vitro . Positively regulates initiation of autophagy by regulating the RAB1A-dependent trafficking of the ULK1/ATG1 kinase complex to the phagophore which leads to autophagosome formation . Acts as a regulator of mTORC1 signaling by promoting phosphorylation of mTORC1 substrates . Plays a role in endosomal trafficking . May be involved in regulating the maturation of phagosomes to lysosomes (By similarity). Promotes the lysosomal localization and lysosome-mediated degradation of CARM1 which leads to inhibition of starvation-induced lipid metabolism (By similarity). Regulates actin dynamics in motor neurons by inhibiting the GTP-binding activity of ARF6, leading to ARF6 inactivation . This reduces the activity of the LIMK1 and LIMK2 kinases which are responsible for phosphorylation and inactivation of cofilin, leading to CFL1/cofilin activation . Positively regulates axon extension and axon growth cone size in spinal motor neurons . Required for SMCR8 protein expression and localization at pre- and post-synaptic compartments in the forebrain, also regulates protein abundance of RAB3A and GRIA1/GLUR1 in post-synaptic compartments in the forebrain and hippocampus (By similarity). Plays a role within the hematopoietic system in restricting inflammation and the development of autoimmunity (By similarity). .; FUNCTION: [Isoform 1]: Regulates stress granule assembly in response to cellular stress. .; FUNCTION: [Isoform 2]: Does not play a role in regulation of stress granule assembly in response to cellular stress. . |
Accessions | ENST00000379997.7 [Q96LT7-2] ENST00000673600.1 ENST00000647196.1 A0A2R8Y5K2 Q96LT7 ENST00000379995.1 [Q96LT7-2] ENST00000619707.5 [Q96LT7-1] ENST00000644136.1 ENST00000380003.8 [Q96LT7-1] A0A5F9ZHW7 A0A2R8Y5U5 |