Insufficient scRNA-seq data for expression of USH1G at single-cell level.
Insufficient scRNA-seq data for expression of USH1G at tissue level.
Tissue | GTEx Coverage | GTEx Average TPM | GTEx Number of samples | TCGA Coverage | TCGA Average TPM | TCGA Number of samples |
---|---|---|---|---|---|---|
uterus | 68% | 168.49 | 116 / 170 | 56% | 3.42 | 256 / 459 |
adrenal gland | 95% | 153.84 | 244 / 258 | 26% | 2.31 | 59 / 230 |
esophagus | 39% | 445.27 | 560 / 1445 | 52% | 4.97 | 96 / 183 |
ovary | 66% | 66.09 | 118 / 180 | 20% | 0.54 | 84 / 430 |
skin | 70% | 265.72 | 1263 / 1809 | 8% | 0.28 | 36 / 472 |
tonsil | 0% | 0 | 0 / 0 | 73% | 4.83 | 33 / 45 |
bladder | 33% | 31.76 | 7 / 21 | 25% | 1.25 | 127 / 504 |
lung | 0% | 0 | 0 / 578 | 38% | 3.04 | 443 / 1155 |
kidney | 4% | 2.22 | 4 / 89 | 20% | 0.76 | 183 / 901 |
brain | 16% | 20.62 | 428 / 2642 | 1% | 0.03 | 10 / 705 |
intestine | 6% | 7.46 | 61 / 966 | 5% | 0.18 | 24 / 527 |
prostate | 10% | 6.27 | 24 / 245 | 0% | 0.00 | 1 / 502 |
thymus | 0% | 0 | 0 / 653 | 9% | 0.38 | 53 / 605 |
breast | 0% | 0 | 0 / 459 | 7% | 0.17 | 78 / 1118 |
pancreas | 0% | 0 | 0 / 328 | 6% | 0.22 | 10 / 178 |
stomach | 1% | 0.96 | 2 / 359 | 5% | 0.12 | 14 / 286 |
liver | 0% | 0 | 0 / 226 | 3% | 0.08 | 13 / 406 |
heart | 3% | 1.37 | 24 / 861 | 0% | 0 | 0 / 0 |
eye | 0% | 0 | 0 / 0 | 3% | 0.04 | 2 / 80 |
adipose | 0% | 0.50 | 6 / 1204 | 0% | 0 | 0 / 0 |
muscle | 0% | 0.16 | 2 / 803 | 0% | 0 | 0 / 0 |
blood vessel | 0% | 0.04 | 1 / 1335 | 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 |
lymph node | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 29 |
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 |
peripheral blood | 0% | 0 | 0 / 929 | 0% | 0 | 0 / 0 |
placenta | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
spinal column | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 0 |
spleen | 0% | 0 | 0 / 241 | 0% | 0 | 0 / 0 |
ureter | 0% | 0 | 0 / 0 | 0% | 0 | 0 / 1 |
GO_0007605 | Biological process | sensory perception of sound |
GO_0045494 | Biological process | photoreceptor cell maintenance |
GO_0050957 | Biological process | equilibrioception |
GO_0060122 | Biological process | inner ear receptor cell stereocilium organization |
GO_2000369 | Biological process | regulation of clathrin-dependent endocytosis |
GO_0050953 | Biological process | sensory perception of light stimulus |
GO_0042472 | Biological process | inner ear morphogenesis |
GO_0032391 | Cellular component | photoreceptor connecting cilium |
GO_0005886 | Cellular component | plasma membrane |
GO_0016607 | Cellular component | nuclear speck |
GO_0005813 | Cellular component | centrosome |
GO_0001917 | Cellular component | photoreceptor inner segment |
GO_0015629 | Cellular component | actin cytoskeleton |
GO_0005829 | Cellular component | cytosol |
GO_0097546 | Cellular component | ciliary base |
GO_0015030 | Cellular component | Cajal body |
GO_0036064 | Cellular component | ciliary basal body |
GO_0097733 | Cellular component | photoreceptor cell cilium |
GO_0030507 | Molecular function | spectrin binding |
GO_0042802 | Molecular function | identical protein binding |
GO_0005515 | Molecular function | protein binding |
Gene name | USH1G |
Protein name | pre-mRNA splicing regulator USH1G (Scaffold protein containing ankyrin repeats and SAM domain) (Usher syndrome type-1G protein) Usher syndrome type 1G protein isoform 2 USH1 protein network component sans |
Synonyms | SANS |
Description | FUNCTION: Plays a role in pre-mRNA splicing by regulating the release and transfer of U4/U6.U5 tri-small nuclear ribonucleoprotein (tri-snRNP) complexes from their assembly site in Cajal bodies to nuclear speckles, thereby contributing to the assembly of the pre-catalytic spliceosome on target pre-mRNAs . May also participate in recycling of snRNPs back to Cajal bodies during splicing . Plays a role in regulating MAGI2-mediated endocytosis . Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles. Required for normal hearing. . |
Accessions | ENST00000614341.5 A0A385DPC5 Q495M9 J3KSN5 ENST00000579243.1 |