| Tbio | Collagen alpha-1(XI) chain |
May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene. [provided by RefSeq, Nov 2009]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Craniofacial Abnormalities | 151 | 0.0 | 0.0 |
| Fibrochondrogenesis | 7 | 0.0 | 5.0 |
| Glaucoma, Angle-Closure | 7 | 0.0 | 0.0 |
| Intervertebral Disc Displacement | 1 | 0.0 | 0.0 |
| Intervertebral disc disease | 6 | 0.0 | 0.0 |
| Marshall syndrome | 1 | 0.0 | 0.0 |
| Osteochondrodysplasias | 72 | 0.0 | 0.0 |
| Ovarian Cysts | 41 | 0.0 | 0.0 |
| Stickler syndrome, type 2 | 1 | 0.0 | 0.0 |
| Disease | Target Count | P-value |
|---|---|---|
| non-small cell lung cancer | 2890 | 1.5e-21 |
| psoriasis | 6694 | 4.0e-12 |
| lung adenocarcinoma | 2716 | 3.5e-11 |
| Astrocytoma, Pilocytic | 3081 | 1.6e-07 |
| malignant mesothelioma | 3232 | 2.0e-06 |
| invasive ductal carcinoma | 2951 | 2.1e-06 |
| pancreatic cancer | 2398 | 4.9e-06 |
| cystic fibrosis | 1696 | 2.8e-05 |
| breast carcinoma | 1638 | 3.8e-04 |
| Pick disease | 1894 | 6.3e-04 |
| group 4 medulloblastoma | 1855 | 1.7e-03 |
| ductal carcinoma in situ | 1745 | 2.5e-03 |
| ovarian cancer | 8520 | 2.5e-03 |
| colon cancer | 1478 | 5.4e-03 |
| glioblastoma | 5792 | 1.0e-02 |
| pediatric high grade glioma | 1064 | 1.2e-02 |
| oligodendroglioma | 2850 | 2.2e-02 |
| Breast cancer | 3578 | 2.5e-02 |
| atypical teratoid / rhabdoid tumor | 5112 | 2.9e-02 |
| primary pancreatic ductal adenocarcinoma | 1109 | 3.1e-02 |
| lung cancer | 4740 | 3.1e-02 |
| adrenocortical carcinoma | 1428 | 3.7e-02 |
| X-linked cerebral adrenoleukodystrophy | 116 | 4.6e-02 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Stickler syndrome | 13 | 7.193 | 3.6 |
| Osteoarthritis | 184 | 3.411 | 1.7 |
| Degenerative disc disease | 35 | 0.0 | 5.0 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Primary angle-closure glaucoma | 14 | 5.361 | 2.7 |
| Autosomal recessive nonsyndromic deafness 32 | 1 | 4.795 | 2.4 |
| Osteochondrodysplasia | 6 | 4.149 | 2.1 |
| Sensorineural hearing loss | 106 | 3.975 | 2.0 |
| Vitreoretinal dystrophy | 4 | 3.367 | 1.7 |
| Vitreous syneresis | 6 | 3.313 | 1.7 |
| Disease | log2 FC | p |
|---|---|---|
| lung cancer | 1.400 | 3.1e-02 |
| adrenocortical carcinoma | 2.741 | 3.7e-02 |
| Astrocytoma, Pilocytic | 1.900 | 1.6e-07 |
| atypical teratoid / rhabdoid tumor | 2.500 | 2.9e-02 |
| Breast cancer | 4.100 | 2.5e-02 |
| breast carcinoma | 1.900 | 3.8e-04 |
| colon cancer | 3.100 | 5.4e-03 |
| cystic fibrosis | -1.997 | 2.8e-05 |
| ductal carcinoma in situ | 2.800 | 2.5e-03 |
| glioblastoma | 1.200 | 1.0e-02 |
| group 4 medulloblastoma | -1.100 | 1.7e-03 |
| invasive ductal carcinoma | 4.475 | 2.1e-06 |
| lung adenocarcinoma | 1.600 | 3.5e-11 |
| malignant mesothelioma | 2.200 | 2.0e-06 |
| non-small cell lung cancer | 4.060 | 1.5e-21 |
| oligodendroglioma | -1.100 | 2.2e-02 |
| ovarian cancer | -2.400 | 2.5e-03 |
| pancreatic cancer | 3.200 | 4.9e-06 |
| pediatric high grade glioma | 1.400 | 1.2e-02 |
| Pick disease | 1.500 | 6.3e-04 |
| primary pancreatic ductal adenocarcinoma | 3.011 | 3.1e-02 |
| psoriasis | -1.100 | 4.0e-12 |
| X-linked cerebral adrenoleukodystrophy | 3.100 | 4.6e-02 |
MEPWSSRWKTKRWLWDFTVTTLALTFLFQAREVRGAAPVDVLKALDFHNSPEGISKTTGFCTNRKNSKGS 1 - 70 DTAYRVSKQAQLSAPTKQLFPGGTFPEDFSILFTVKPKKGIQSFLLSIYNEHGIQQIGVEVGRSPVFLFE 71 - 140 DHTGKPAPEDYPLFRTVNIADGKWHRVAISVEKKTVTMIVDCKKKTTKPLDRSERAIVDTNGITVFGTRI 141 - 210 LDEEVFEGDIQQFLITGDPKAAYDYCEHYSPDCDSSAPKAAQAQEPQIDEYAPEDIIEYDYEYGEAEYKE 211 - 280 AESVTEGPTVTEETIAQTEANIVDDFQEYNYGTMESYQTEAPRHVSGTNEPNPVEEIFTEEYLTGEDYDS 281 - 350 QRKNSEDTLYENKEIDGRDSDLLVDGDLGEYDFYEYKEYEDKPTSPPNEEFGPGVPAETDITETSINGHG 351 - 420 AYGEKGQKGEPAVVEPGMLVEGPPGPAGPAGIMGPPGLQGPTGPPGDPGDRGPPGRPGLPGADGLPGPPG 421 - 490 TMLMLPFRYGGDGSKGPTISAQEAQAQAILQQARIALRGPPGPMGLTGRPGPVGGPGSSGAKGESGDPGP 491 - 560 QGPRGVQGPPGPTGKPGKRGRPGADGGRGMPGEPGAKGDRGFDGLPGLPGDKGHRGERGPQGPPGPPGDD 561 - 630 GMRGEDGEIGPRGLPGEAGPRGLLGPRGTPGAPGQPGMAGVDGPPGPKGNMGPQGEPGPPGQQGNPGPQG 631 - 700 LPGPQGPIGPPGEKGPQGKPGLAGLPGADGPPGHPGKEGQSGEKGALGPPGPQGPIGYPGPRGVKGADGV 701 - 770 RGLKGSKGEKGEDGFPGFKGDMGLKGDRGEVGQIGPRGEDGPEGPKGRAGPTGDPGPSGQAGEKGKLGVP 771 - 840 GLPGYPGRQGPKGSTGFPGFPGANGEKGARGVAGKPGPRGQRGPTGPRGSRGARGPTGKPGPKGTSGGDG 841 - 910 PPGPPGERGPQGPQGPVGFPGPKGPPGPPGKDGLPGHPGQRGETGFQGKTGPPGPGGVVGPQGPTGETGP 911 - 980 IGERGHPGPPGPPGEQGLPGAAGKEGAKGDPGPQGISGKDGPAGLRGFPGERGLPGAQGAPGLKGGEGPQ 981 - 1050 GPPGPVGSPGERGSAGTAGPIGLPGRPGPQGPPGPAGEKGAPGEKGPQGPAGRDGVQGPVGLPGPAGPAG 1051 - 1120 SPGEDGDKGEIGEPGQKGSKGDKGENGPPGPPGLQGPVGAPGIAGGDGEPGPRGQQGMFGQKGDEGARGF 1121 - 1190 PGPPGPIGLQGLPGPPGEKGENGDVGPMGPPGPPGPRGPQGPNGADGPQGPPGSVGSVGGVGEKGEPGEA 1191 - 1260 GNPGPPGEAGVGGPKGERGEKGEAGPPGAAGPPGAKGPPGDDGPKGNPGPVGFPGDPGPPGEPGPAGQDG 1261 - 1330 VGGDKGEDGDPGQPGPPGPSGEAGPPGPPGKRGPPGAAGAEGRQGEKGAKGEAGAEGPPGKTGPVGPQGP 1331 - 1400 AGKPGPEGLRGIPGPVGEQGLPGAAGQDGPPGPMGPPGLPGLKGDPGSKGEKGHPGLIGLIGPPGEQGEK 1401 - 1470 GDRGLPGTQGSPGAKGDGGIPGPAGPLGPPGPPGLPGPQGPKGNKGSTGPAGQKGDSGLPGPPGSPGPPG 1471 - 1540 EVIQPLPILSSKKTRRHTEGMQADADDNILDYSDGMEEIFGSLNSLKQDIEHMKFPMGTQTNPARTCKDL 1541 - 1610 QLSHPDFPDGEYWIDPNQGCSGDSFKVYCNFTSGGETCIYPDKKSEGVRISSWPKEKPGSWFSEFKRGKL 1611 - 1680 LSYLDVEGNSINMVQMTFLKLLTASARQNFTYHCHQSAAWYDVSSGSYDKALRFLGSNDEEMSYDNNPFI 1681 - 1750 KTLYDGCASRKGYEKTVIEINTPKIDQVPIVDVMINDFGDQNQKFGFEVGPVCFLG 1751 - 1806 //
