| Tbio | N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase |
Isoform C: Determines the expression of the blood group I antigen in erythrocytes.
This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| CATARACT 13 WITH ADULT i PHENOTYPE | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| osteosarcoma | 7950 | 2.2e-08 |
| malignant mesothelioma | 3232 | 2.9e-06 |
| tuberculosis | 2010 | 4.7e-06 |
| sonic hedgehog group medulloblastoma | 467 | 2.3e-05 |
| cystic fibrosis | 1696 | 9.5e-05 |
| Astrocytoma, Pilocytic | 3081 | 3.0e-03 |
| atypical teratoid / rhabdoid tumor | 5112 | 3.3e-03 |
| pituitary cancer | 1972 | 1.1e-02 |
| Breast cancer | 3578 | 1.3e-02 |
| active ulcerative colitis | 764 | 1.4e-02 |
| acute myeloid leukemia | 783 | 1.8e-02 |
| lung cancer | 4740 | 2.0e-02 |
| active Crohn's disease | 922 | 3.3e-02 |
| colon cancer | 1478 | 4.5e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Mast cell neoplasm | 8 | 4.311 | 2.2 |
| Ophthalmia neonatorum | 3 | 4.197 | 2.1 |
| Microphthalmia | 76 | 3.956 | 2.0 |
| Cortical blindness | 16 | 3.097 | 1.5 |
| Glaucoma | 239 | 3.037 | 1.5 |
| Coats disease | 13 | 3.008 | 1.5 |
| Disease | Target Count |
|---|---|
| Cataract Hutterite type | 2 |
| Disease | log2 FC | p |
|---|---|---|
| active Crohn's disease | -1.491 | 3.3e-02 |
| active ulcerative colitis | -1.937 | 1.4e-02 |
| acute myeloid leukemia | -1.400 | 1.8e-02 |
| Astrocytoma, Pilocytic | 1.400 | 3.0e-03 |
| atypical teratoid / rhabdoid tumor | 1.500 | 3.3e-03 |
| Breast cancer | -1.100 | 1.3e-02 |
| colon cancer | -1.200 | 4.5e-02 |
| cystic fibrosis | 1.864 | 9.5e-05 |
| lung cancer | -1.500 | 2.0e-02 |
| malignant mesothelioma | 2.800 | 2.9e-06 |
| osteosarcoma | -4.619 | 2.2e-08 |
| pituitary cancer | -1.500 | 1.1e-02 |
| sonic hedgehog group medulloblastoma | 2.800 | 2.3e-05 |
| tuberculosis | 2.100 | 4.7e-06 |
MMGSWKHCLFSASLISALIFVFVYNTELWENKRFLRAALSNASLLAEACHQIFEGKVFYPTENALKTTLD 1 - 70 EATCYEYMVRSHYVTETLSEEEAGFPLAYTVTIHKDFGTFERLFRAIYMPQNVYCVHLDQKATDAFKGAV 71 - 140 KQLLSCFPNAFLASKKESVVYGGISRLQADLNCLEDLVASEVPWKYVINTCGQDFPLKTNREIVQYLKGF 141 - 210 KGKNITPGVLPPDHAVGRTKYVHQELLNHKNSYVIKTTKLKTPPPHDMVIYFGTAYVALTRDFANFVLQD 211 - 280 QLALDLLSWSKDTYSPDEHFWVTLNRIPGVPGSMPNASWTGNLRAIKWSDMEDRHGGCHGHYVHGICIYG 281 - 350 NGDLKWLVNSPSLFANKFELNTYPLTVECLELRHRERTLNQSETAIQPSWYF 351 - 402 //
