Name | Number of supported studies | Average coverage | |
---|---|---|---|
ciliated cell | 18 studies | 33% ± 12% | |
endothelial cell | 13 studies | 27% ± 13% | |
oligodendrocyte | 12 studies | 31% ± 10% | |
glutamatergic neuron | 11 studies | 44% ± 24% | |
oligodendrocyte precursor cell | 10 studies | 27% ± 10% | |
astrocyte | 9 studies | 31% ± 13% | |
retinal rod cell | 8 studies | 27% ± 9% | |
interneuron | 7 studies | 44% ± 22% | |
GABAergic neuron | 7 studies | 48% ± 20% | |
epithelial cell | 6 studies | 31% ± 13% | |
retinal cone cell | 6 studies | 31% ± 12% | |
fibroblast | 6 studies | 20% ± 3% | |
neuron | 5 studies | 35% ± 8% | |
retina horizontal cell | 5 studies | 22% ± 9% | |
granule cell | 4 studies | 20% ± 4% | |
microglial cell | 4 studies | 26% ± 8% | |
retinal ganglion cell | 4 studies | 30% ± 12% | |
amacrine cell | 4 studies | 22% ± 8% | |
smooth muscle cell | 4 studies | 17% ± 1% | |
GABAergic interneuron | 3 studies | 35% ± 11% | |
macrophage | 3 studies | 26% ± 10% | |
lymphocyte | 3 studies | 20% ± 0% | |
glycinergic amacrine cell | 3 studies | 21% ± 6% | |
basal cell | 3 studies | 33% ± 19% | |
neural progenitor cell | 3 studies | 18% ± 2% | |
ependymal cell | 3 studies | 38% ± 10% | |
connective tissue cell | 3 studies | 19% ± 4% | |
endothelial cell of lymphatic vessel | 3 studies | 22% ± 0% | |
pericyte | 3 studies | 18% ± 2% | |
adipocyte | 3 studies | 16% ± 0% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
breast | 100% | 1655.22 | 459 / 459 | 96% | 4.00 | 1068 / 1118 |
brain | 100% | 1580.90 | 2636 / 2642 | 95% | 3.45 | 672 / 705 |
prostate | 100% | 2252.01 | 245 / 245 | 94% | 3.16 | 474 / 502 |
adrenal gland | 100% | 1405.79 | 258 / 258 | 94% | 2.98 | 216 / 230 |
thymus | 100% | 2474.38 | 653 / 653 | 93% | 2.93 | 564 / 605 |
esophagus | 98% | 1273.41 | 1417 / 1445 | 95% | 3.75 | 174 / 183 |
kidney | 100% | 1553.85 | 89 / 89 | 92% | 3.34 | 828 / 901 |
lung | 100% | 1615.10 | 576 / 578 | 91% | 2.61 | 1056 / 1155 |
pancreas | 98% | 806.68 | 322 / 328 | 93% | 2.43 | 165 / 178 |
stomach | 100% | 1185.71 | 359 / 359 | 83% | 2.14 | 237 / 286 |
bladder | 100% | 1896.57 | 21 / 21 | 81% | 2.32 | 409 / 504 |
uterus | 100% | 2827.80 | 170 / 170 | 78% | 1.97 | 358 / 459 |
intestine | 100% | 1691.30 | 966 / 966 | 75% | 1.69 | 393 / 527 |
skin | 99% | 1557.38 | 1797 / 1809 | 74% | 2.21 | 351 / 472 |
ovary | 100% | 3579.85 | 180 / 180 | 56% | 1.00 | 241 / 430 |
liver | 86% | 535.32 | 194 / 226 | 38% | 0.72 | 155 / 406 |
spleen | 100% | 1392.98 | 241 / 241 | 0% | 0 | 0 / 0 |
ureter | 0% | 0 | 0 / 0 | 100% | 1.09 | 1 / 1 |
adipose | 100% | 1577.81 | 1203 / 1204 | 0% | 0 | 0 / 0 |
blood vessel | 100% | 1452.06 | 1330 / 1335 | 0% | 0 | 0 / 0 |
heart | 95% | 837.00 | 821 / 861 | 0% | 0 | 0 / 0 |
muscle | 84% | 457.48 | 674 / 803 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 62% | 1.40 | 28 / 45 |
lymph node | 0% | 0 | 0 / 0 | 59% | 1.55 | 17 / 29 |
eye | 0% | 0 | 0 / 0 | 31% | 0.71 | 25 / 80 |
peripheral blood | 23% | 568.68 | 213 / 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_1905515 | Biological process | non-motile cilium assembly |
GO_0060271 | Biological process | cilium assembly |
GO_0030916 | Biological process | otic vesicle formation |
GO_0001822 | Biological process | kidney development |
GO_0070201 | Biological process | regulation of establishment of protein localization |
GO_1905349 | Biological process | ciliary transition zone assembly |
GO_0042462 | Biological process | eye photoreceptor cell development |
GO_0045893 | Biological process | positive regulation of DNA-templated transcription |
GO_0048793 | Biological process | pronephros development |
GO_0030902 | Biological process | hindbrain development |
GO_0015031 | Biological process | protein transport |
GO_0043010 | Biological process | camera-type eye development |
GO_0090316 | Biological process | positive regulation of intracellular protein transport |
GO_0097711 | Biological process | ciliary basal body-plasma membrane docking |
GO_0032391 | Cellular component | photoreceptor connecting cilium |
GO_0036038 | Cellular component | MKS complex |
GO_0005576 | Cellular component | extracellular region |
GO_0034451 | Cellular component | centriolar satellite |
GO_0035580 | Cellular component | specific granule lumen |
GO_0016020 | Cellular component | membrane |
GO_0005813 | Cellular component | centrosome |
GO_0032991 | Cellular component | protein-containing complex |
GO_0005814 | Cellular component | centriole |
GO_0005829 | Cellular component | cytosol |
GO_0035869 | Cellular component | ciliary transition zone |
GO_0005737 | Cellular component | cytoplasm |
GO_0036064 | Cellular component | ciliary basal body |
GO_0005634 | Cellular component | nucleus |
GO_0051011 | Molecular function | microtubule minus-end binding |
GO_0042802 | Molecular function | identical protein binding |
GO_0005515 | Molecular function | protein binding |
Gene name | CEP290 |
Protein name | CEP290 protein Centrosomal protein 290 Centrosomal protein of 290 kDa (Cep290) (Bardet-Biedl syndrome 14 protein) (Cancer/testis antigen 87) (CT87) (Nephrocystin-6) (Tumor antigen se2-2) |
Synonyms | BBS14 KIAA0373 NPHP6 |
Description | FUNCTION: Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 . May play a role in early ciliogenesis in the disappearance of centriolar satellites and in the transition of primary ciliar vesicles (PCVs) to capped ciliary vesicles (CCVs). Required for the centrosomal recruitment of RAB8A and for the targeting of centriole satellite proteins to centrosomes such as of PCM1 . Required for the correct localization of ciliary and phototransduction proteins in retinal photoreceptor cells; may play a role in ciliary transport processes (By similarity). Required for efficient recruitment of RAB8A to primary cilium . In the ciliary transition zone is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in regulation of the BBSome complex integrity, specifically for presence of BBS2, BBS5 and BBS8/TTC8 in the complex, and in ciliary targeting of selected BBSome cargos. May play a role in controlling entry of the BBSome complex to cilia possibly implicating IQCB1/NPHP5 . Activates ATF4-mediated transcription . . |
Accessions | A0A6Q8PGA1 ENST00000676448.1 A0A6Q8PH24 J3KNF5 ENST00000675833.1 ENST00000675476.1 ENST00000675794.1 S4R322 ENST00000675559.1 ENST00000604024.5 ENST00000672414.2 ENST00000673058.2 A0A6Q8PGP6 ENST00000675230.1 A0A5F9ZHU6 F8W097 Q96HG2 A0A6Q8PGC3 Q05BJ6 ENST00000547691.8 ENST00000675089.1 A0A6Q8PFZ5 A0A6Q8PG44 A0A0A0MS86 ENST00000397838.8 ENST00000676418.1 ENST00000675361.1 A0A6Q8PH78 A0A5K1VW81 O15078 A0A6Q8PGB1 ENST00000309041.12 F8VS29 ENST00000552810.6 A0A5F9ZHV7 ENST00000676074.1 ENST00000552770.3 ENST00000675408.1 A0A6Q8PEZ6 ENST00000674971.1 ENST00000676351.1 ENST00000550962.6 A0A6Q8PGQ4 ENST00000547926.7 |