| Tbio | Ribose-phosphate pyrophosphokinase 1 |
Catalyzes the synthesis of phosphoribosylpyrophosphate (PRPP) that is essential for nucleotide synthesis.
This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
This gene encodes an enzyme that catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for purine metabolism and nucleotide biosynthesis. Defects in this gene are a cause of phosphoribosylpyrophosphate synthetase superactivity, Charcot-Marie-Tooth disease X-linked recessive type 5 and Arts Syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2011]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Arts syndrome | 26 | 5.796 | 2.9 |
| Optic atrophy polyneuropathy deafness | 1 | 0.0 | 0.0 |
| Phosphoribosylpyrophosphate Synthetase Superactivity | 1 | 0.0 | 0.0 |
| Weight Gain | 100 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8520 | 2.0e-10 |
| malignant mesothelioma | 3232 | 3.2e-06 |
| posterior fossa group B ependymoma | 416 | 1.1e-05 |
| psoriasis | 6694 | 4.6e-05 |
| cystic fibrosis | 1696 | 5.1e-05 |
| ulcerative colitis | 1819 | 1.2e-04 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2989 | 1.2e-03 |
| intraductal papillary-mucinous adenoma (IPMA) | 2955 | 1.6e-03 |
| osteosarcoma | 7950 | 6.3e-03 |
| pancreatic ductal adenocarcinoma liver metastasis | 1962 | 7.1e-03 |
| Alzheimer's disease | 658 | 2.0e-02 |
| colon cancer | 1478 | 2.4e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Nonsyndromic deafness | 142 | 3.648 | 1.8 |
| Charcot-Marie-Tooth disease | 62 | 0.0 | 4.0 |
| Neurodegenerative disease | 414 | 0.0 | 4.0 |
| Retinitis Pigmentosa | 226 | 0.0 | 4.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Sensorineural hearing loss | 106 | 4.458 | 2.2 |
| Purine nucleoside phosphorylase deficiency | 11 | 3.988 | 2.0 |
| Lesch-Nyhan syndrome | 12 | 3.771 | 1.9 |
| Hyperuricemia | 47 | 3.69 | 1.8 |
| Megalocornea | 13 | 3.074 | 1.5 |
| Disease | Target Count |
|---|---|
| Charcot-Marie-Tooth disease X-linked recessive 5 | 4 |
| Disease | log2 FC | p |
|---|---|---|
| Alzheimer's disease | -1.200 | 2.0e-02 |
| colon cancer | 1.300 | 2.4e-02 |
| cystic fibrosis | -1.190 | 5.1e-05 |
| intraductal papillary-mucinous adenoma (... | -1.100 | 1.6e-03 |
| intraductal papillary-mucinous carcinoma... | -1.200 | 1.2e-03 |
| malignant mesothelioma | 1.300 | 3.2e-06 |
| osteosarcoma | 1.394 | 6.3e-03 |
| ovarian cancer | -1.800 | 2.0e-10 |
| pancreatic ductal adenocarcinoma liver m... | -1.275 | 7.1e-03 |
| posterior fossa group B ependymoma | 1.400 | 1.1e-05 |
| psoriasis | 2.700 | 4.6e-05 |
| ulcerative colitis | 1.200 | 1.2e-04 |
MPNIKIFSGSSHQDLSQKIADRLGLELGKVVTKKFSNQETCVEIGESVRGEDVYIVQSGCGEINDNLMEL 1 - 70 LIMINACKIASASRVTAVIPCFPYARQDKKDKSRAPISAKLVANMLSVAGADHIITMDLHASQIQGFFDI 71 - 140 PVDNLYAEPAVLKWIRENISEWRNCTIVSPDAGGAKRVTSIADRLNVDFALIHKERKKANEVDRMVLVGD 141 - 210 VKDRVAILVDDMADTCGTICHAADKLLSAGATRVYAILTHGIFSGPAISRINNACFEAVVVTNTIPQEDK 211 - 280 MKHCSKIQVIDISMILAEAIRRTHNGESVSYLFSHVPL 281 - 318 //
