| Tdark | EKC/KEOPS complex subunit LAGE3 |
Component of the EKC/KEOPS complex that is required for the formation of a threonylcarbamoyl group on adenosine at position 37 (t(6)A37) in tRNAs that read codons beginning with adenine. The complex is probably involved in the transfer of the threonylcarbamoyl moiety of threonylcarbamoyl-AMP (TC-AMP) to the N6 group of A37. LAGE3 functions as a dimerization module for the complex (By similarity).
This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9. [provided by RefSeq, Jul 2008]
This gene belongs to the ESO/LAGE gene family, members of which are clustered together on chromosome Xq28, and have similar exon-intron structures. Unlike the other family members which are normally expressed only in testis and activated in a wide range of human tumors, this gene is ubiquitously expressed in somatic tissues. The latter, combined with the finding that it is highly conserved in mouse and rat, suggests that the encoded protein is functionally important. An intronless pseudogene with high sequence similarity to this gene is located on chromosome 9. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Galloway Mowat syndrome | 6 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| breast carcinoma | 1638 | 5.3e-27 |
| Breast cancer | 3578 | 2.5e-09 |
| ovarian cancer | 8520 | 4.3e-05 |
| malignant mesothelioma | 3232 | 1.3e-04 |
| psoriasis | 6694 | 1.7e-04 |
| invasive ductal carcinoma | 2951 | 6.9e-04 |
| ductal carcinoma in situ | 1745 | 9.5e-04 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Galloway-Mowat syndrome | 15 | 5.478 | 2.7 |
| Shipyard eye | 15 | 4.051 | 2.0 |
| Disease | log2 FC | p |
|---|---|---|
| Breast cancer | 1.400 | 2.5e-09 |
| breast carcinoma | 1.200 | 5.3e-27 |
| ductal carcinoma in situ | 1.200 | 9.5e-04 |
| invasive ductal carcinoma | 1.900 | 6.9e-04 |
| malignant mesothelioma | 1.100 | 1.3e-04 |
| ovarian cancer | 1.500 | 4.3e-05 |
| psoriasis | 1.600 | 1.7e-04 |
