| Tbio | N-acetylglucosamine-6-sulfatase |
The product of this gene is a lysosomal enzyme found in all cells. It is involved in the catabolism of heparin, heparan sulphate, and keratan sulphate. Deficiency of this enzyme results in the accumulation of undegraded substrate and the lysosomal storage disorder mucopolysaccharidosis type IIID (Sanfilippo D syndrome). Mucopolysaccharidosis type IIID is the least common of the four subtypes of Sanfilippo syndrome. [provided by RefSeq, Jul 2008]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Mucopolysaccharidosis III | 7 | 0.0 | 5.0 |
| Disease | Target Count | P-value |
|---|---|---|
| juvenile dermatomyositis | 1187 | 1.6e-11 |
| ovarian cancer | 8520 | 4.9e-09 |
| Astrocytoma, Pilocytic | 3081 | 6.5e-08 |
| glioblastoma | 5792 | 6.4e-07 |
| osteosarcoma | 7950 | 3.1e-06 |
| medulloblastoma, large-cell | 6241 | 5.7e-06 |
| atypical teratoid / rhabdoid tumor | 5112 | 1.7e-05 |
| acute quadriplegic myopathy | 1158 | 7.9e-05 |
| group 4 medulloblastoma | 1855 | 2.7e-04 |
| adult high grade glioma | 3801 | 7.6e-04 |
| dermatomyositis | 966 | 9.2e-04 |
| subependymal giant cell astrocytoma | 2287 | 1.9e-03 |
| diabetes mellitus | 1728 | 3.4e-03 |
| Polycystic ovary syndrome | 360 | 4.6e-03 |
| lung cancer | 4740 | 1.0e-02 |
| astrocytoma | 1146 | 1.3e-02 |
| psoriasis | 6694 | 1.6e-02 |
| Gaucher disease type 1 | 180 | 1.7e-02 |
| ependymoma | 4679 | 2.2e-02 |
| intraductal papillary-mucinous neoplasm (IPMN) | 3291 | 3.7e-02 |
| primary pancreatic ductal adenocarcinoma | 1109 | 4.0e-02 |
| adrenocortical carcinoma | 1428 | 4.2e-02 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2989 | 4.3e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Mucopolysaccharidosis | 26 | 5.004 | 2.5 |
| Disease | Target Count |
|---|---|
| Mucopolysaccharidosis, MPS-III-D | 1 |
| Disease | log2 FC | p |
|---|---|---|
| acute quadriplegic myopathy | 1.301 | 7.9e-05 |
| adrenocortical carcinoma | 1.014 | 4.2e-02 |
| adult high grade glioma | 1.200 | 7.6e-04 |
| astrocytoma | 2.400 | 1.3e-02 |
| Astrocytoma, Pilocytic | 1.400 | 6.5e-08 |
| atypical teratoid / rhabdoid tumor | 1.700 | 1.7e-05 |
| dermatomyositis | 1.400 | 9.2e-04 |
| diabetes mellitus | -1.300 | 3.4e-03 |
| ependymoma | 1.300 | 2.2e-02 |
| Gaucher disease type 1 | -1.400 | 1.7e-02 |
| glioblastoma | 1.300 | 6.4e-07 |
| group 4 medulloblastoma | 1.400 | 2.7e-04 |
| intraductal papillary-mucinous carcinoma... | 1.100 | 4.3e-02 |
| intraductal papillary-mucinous neoplasm ... | 1.500 | 3.7e-02 |
| juvenile dermatomyositis | 1.002 | 1.6e-11 |
| lung cancer | -1.100 | 1.0e-02 |
| medulloblastoma, large-cell | 1.300 | 5.7e-06 |
| osteosarcoma | 2.733 | 3.1e-06 |
| ovarian cancer | -1.800 | 4.9e-09 |
| Polycystic ovary syndrome | -1.150 | 4.6e-03 |
| primary pancreatic ductal adenocarcinoma | 1.090 | 4.0e-02 |
| psoriasis | -1.200 | 1.6e-02 |
| subependymal giant cell astrocytoma | 2.307 | 1.9e-03 |
MRLLPLAPGRLRRGSPRHLPSCSPALLLLVLGGCLGVFGVAAGTRRPNVVLLLTDDQDEVLGGMTPLKKT 1 - 70 KALIGEMGMTFSSAYVPSALCCPSRASILTGKYPHNHHVVNNTLEGNCSSKSWQKIQEPNTFPAILRSMC 71 - 140 GYQTFFAGKYLNEYGAPDAGGLEHVPLGWSYWYALEKNSKYYNYTLSINGKARKHGENYSVDYLTDVLAN 141 - 210 VSLDFLDYKSNFEPFFMMIATPAPHSPWTAAPQYQKAFQNVFAPRNKNFNIHGTNKHWLIRQAKTPMTNS 211 - 280 SIQFLDNAFRKRWQTLLSVDDLVEKLVKRLEFTGELNNTYIFYTSDNGYHTGQFSLPIDKRQLYEFDIKV 281 - 350 PLLVRGPGIKPNQTSKMLVANIDLGPTILDIAGYDLNKTQMDGMSLLPILRGASNLTWRSDVLVEYQGEG 351 - 420 RNVTDPTCPSLSPGVSQCFPDCVCEDAYNNTYACVRTMSALWNLQYCEFDDQEVFVEVYNLTADPDQITN 421 - 490 IAKTIDPELLGKMNYRLMMLQSCSGPTCRTPGVFDPGYRFDPRLMFSNRGSVRTRRFSKHLL 491 - 552 //
