Name | Number of supported studies | Average coverage | |
---|---|---|---|
epithelial cell | 5 studies | 28% ± 6% | |
retinal rod cell | 5 studies | 19% ± 5% | |
B cell | 4 studies | 22% ± 2% | |
pro-B cell | 4 studies | 32% ± 4% | |
astrocyte | 4 studies | 24% ± 4% | |
endothelial cell | 3 studies | 26% ± 3% | |
microglial cell | 3 studies | 18% ± 2% | |
retinal cone cell | 3 studies | 31% ± 11% | |
ciliated cell | 3 studies | 19% ± 3% | |
GABAergic neuron | 3 studies | 36% ± 4% | |
glutamatergic neuron | 3 studies | 39% ± 5% | |
oligodendrocyte precursor cell | 3 studies | 27% ± 4% | |
macrophage | 3 studies | 19% ± 2% | |
oligodendrocyte | 3 studies | 21% ± 2% |
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
esophagus | 100% | 2613.47 | 1445 / 1445 | 100% | 14.20 | 183 / 183 |
skin | 100% | 4990.34 | 1809 / 1809 | 100% | 48.24 | 472 / 472 |
prostate | 100% | 4044.07 | 245 / 245 | 100% | 12.54 | 501 / 502 |
brain | 100% | 3606.80 | 2633 / 2642 | 100% | 18.46 | 705 / 705 |
bladder | 100% | 2784.19 | 21 / 21 | 100% | 11.79 | 502 / 504 |
breast | 100% | 3135.73 | 459 / 459 | 100% | 11.73 | 1113 / 1118 |
lung | 100% | 2781.42 | 577 / 578 | 100% | 13.65 | 1151 / 1155 |
pancreas | 100% | 2563.30 | 328 / 328 | 99% | 12.47 | 177 / 178 |
uterus | 100% | 3274.77 | 170 / 170 | 99% | 12.82 | 456 / 459 |
thymus | 100% | 4072.62 | 653 / 653 | 99% | 12.99 | 599 / 605 |
stomach | 100% | 2298.94 | 359 / 359 | 99% | 11.49 | 283 / 286 |
intestine | 100% | 2856.45 | 966 / 966 | 99% | 11.91 | 521 / 527 |
kidney | 100% | 2914.88 | 89 / 89 | 99% | 14.11 | 890 / 901 |
adrenal gland | 100% | 3051.14 | 258 / 258 | 95% | 10.25 | 218 / 230 |
ovary | 100% | 4025.22 | 180 / 180 | 94% | 7.74 | 405 / 430 |
liver | 100% | 1708.88 | 226 / 226 | 87% | 6.62 | 354 / 406 |
adipose | 100% | 2673.03 | 1204 / 1204 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 100% | 34.51 | 80 / 80 |
lymph node | 0% | 0 | 0 / 0 | 100% | 12.51 | 29 / 29 |
spleen | 100% | 4137.56 | 241 / 241 | 0% | 0 | 0 / 0 |
ureter | 0% | 0 | 0 / 0 | 100% | 6.27 | 1 / 1 |
blood vessel | 100% | 2082.91 | 1331 / 1335 | 0% | 0 | 0 / 0 |
tonsil | 0% | 0 | 0 / 0 | 98% | 11.45 | 44 / 45 |
heart | 91% | 1104.87 | 781 / 861 | 0% | 0 | 0 / 0 |
muscle | 86% | 978.00 | 694 / 803 | 0% | 0 | 0 / 0 |
peripheral blood | 59% | 1350.58 | 552 / 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_0007040 | Biological process | lysosome organization |
GO_0046907 | Biological process | intracellular transport |
GO_0048075 | Biological process | positive regulation of eye pigmentation |
GO_0007596 | Biological process | blood coagulation |
GO_0006605 | Biological process | protein targeting |
GO_0007599 | Biological process | hemostasis |
GO_0016192 | Biological process | vesicle-mediated transport |
GO_0030318 | Biological process | melanocyte differentiation |
GO_0060155 | Biological process | platelet dense granule organization |
GO_0050821 | Biological process | protein stabilization |
GO_1903955 | Biological process | positive regulation of protein targeting to mitochondrion |
GO_1903232 | Biological process | melanosome assembly |
GO_0031410 | Cellular component | cytoplasmic vesicle |
GO_0016020 | Cellular component | membrane |
GO_0005764 | Cellular component | lysosome |
GO_0005829 | Cellular component | cytosol |
GO_0005737 | Cellular component | cytoplasm |
GO_0031085 | Cellular component | BLOC-3 complex |
GO_0042827 | Cellular component | platelet dense granule |
GO_0042470 | Cellular component | melanosome |
GO_0005765 | Cellular component | lysosomal membrane |
GO_0042803 | Molecular function | protein homodimerization activity |
GO_0005085 | Molecular function | guanyl-nucleotide exchange factor activity |
GO_0031267 | Molecular function | small GTPase binding |
GO_0046983 | Molecular function | protein dimerization activity |
GO_0005515 | Molecular function | protein binding |
Gene name | HPS4 |
Protein name | BLOC-3 complex member HPS4 (Hermansky-Pudlak syndrome 4 protein) (Light-ear protein homolog) Hermansky-Pudlak syndrome 4 HPS4 biogenesis of lysosomal organelles complex 3 subunit 2 Hermansky-Pudlak syndrome 4, isoform CRA_b (cDNA FLJ77277, highly similar to Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA) |
Synonyms | hCG_41138 KIAA1667 |
Description | FUNCTION: Component of the BLOC-3 complex, a complex that acts as a guanine exchange factor (GEF) for RAB32 and RAB38, promotes the exchange of GDP to GTP, converting them from an inactive GDP-bound form into an active GTP-bound form. The BLOC-3 complex plays an important role in the control of melanin production and melanosome biogenesis and promotes the membrane localization of RAB32 and RAB38 . . |
Accessions | ENST00000699240.1 ENST00000699243.1 F8WC53 ENST00000699247.1 A0A8V8TPP5 ENST00000699244.1 A0A8V8TMZ0 ENST00000699242.1 A8K2E6 A0A8V8TMW9 A0A8V8TPP9 A0A8V8TMY3 F1LLU8 ENST00000699236.1 ENST00000473782.2 [Q9NQG7-1] ENST00000699235.1 ENST00000699251.1 ENST00000483631.2 ENST00000402105.7 [Q9NQG7-3] ENST00000491142.2 [Q9NQG7-1] A0A8V8TPB5 ENST00000699241.1 ENST00000699246.1 ENST00000336873.9 [Q9NQG7-1] E5RG08 ENST00000398145.7 [Q9NQG7-1] Q9NQG7 A0A8V8TNE4 ENST00000699234.1 ENST00000429411.5 Q6P1K3 A0A8V8TN06 A0A8V8TNF3 ENST00000464362.5 F8VYA9 ENST00000699227.1 A0A8V8TN01 ENST00000699237.1 ENST00000439453.5 ENST00000422379.3 ENST00000699249.1 A0A8V8TPB3 ENST00000699250.1 ENST00000699238.1 |