Property Summary

NCBI Gene PubMed Count 14
Grant Count 29
R01 Count 1
Funding $11,540,328.66
PubMed Score 64.06
PubTator Score 7.67

Knowledge Summary

Patent

No data available

Expression

Gene RIF (9)

PMID Text
26235311 Genetic analysis between COL27A1 and Tourette syndrome was performed.
24986830 Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population
23192621 This study further implicates the genomic region containing the TNC and COL27A1 genes in influencing risk of Achilles tendinopathy, and maps the potential risk allele to a genetic interval flanked by rs946053 and rs2104772.
22889924 The results of this study found in rs7868992 on chromosome 9q32 within COL27A1 is releate to Tourette's syndrome.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
18978678 Observational study of gene-disease association. (HuGE Navigator)
15922909 SOX9 may play an important role in the transcriptional activation of the newest collagen gene, COL27A1.
12766169 type XXVII collagen has unusual molecular features such as no minor helical domain, a major helical domain that is short and interrupted, and a short chain selection sequence within the NC1 domain
12714037 molecular cloning

AA Sequence

MGAGSARGARGTAAAAAARGGGFLFSWILVSFACHLASTQGAPEDVDILQRLGLSWTKAGSPAPPGVIPF      1 - 70
QSGFIFTQRARLQAPTGTVIPAALGTELALVLSLCSHRVNHAFLFAVRSQKRKLQLGLQFLPGKTVVHLG     71 - 140
SRRSVAFDLDMHDGRWHHLALELRGRTVTLVTACGQRRVPVLLPFHRDPALDPGGSFLFGKMNPHAVQFE    141 - 210
GALCQFSIYPVTQVAHNYCTHLRKQCGQADTYQSPLGPLFSQDSGRPFTFQSDLALLGLENLTTATPALG    211 - 280
SLPAGRGPRGTVAPATPTKPQRTSPTNPHQHMAVGGPAQTPLLPAKLSASNALDPMLPASVGGSTRTPRP    281 - 350
AAAQPSQKITATKIPKSLPTKPSAPSTSIVPIKSPHPTQKTAPSSFTKSALPTQKQVPPTSRPVPARVSR    351 - 420
PAEKPIQRNPGMPRPPPPSTRPLPPTTSSSKKPIPTLARTEAKITSHASKPASARTSTHKPPPFTALSSS    421 - 490
PAPTPGSTRSTRPPATMVPPTSGTSTPRTAPAVPTPGSAPTGSKKPIGSEASKKAGPKSSPRKPVPLRPG    491 - 560
KAARDVPLSDLTTRPSPRQPQPSQQTTPALVLAPAQFLSSSPRPTSSGYSIFHLAGSTPFPLLMGPPGPK    561 - 630
GDCGLPGPPGLPGLPGIPGARGPRGPPGPYGNPGLPGPPGAKGQKGDPGLSPGKAHDGAKGDMGLPGLSG    631 - 700
NPGPPGRKGHKGYPGPAGHPGEQGQPGPEGSPGAKGYPGRQGLPGPVGDPGPKGSRGYIGLPGLFGLPGS    701 - 770
DGERGLPGVPGKRGKMGMPGFPGVFGERGPPGLDGNPGELGLPGPPGVPGLIGDLGVLGPIGYPGPKGMK    771 - 840
GLMGSVGEPGLKGDKGEQGVPGVSGDPGFQGDKGSQGLPGFPGARGKPGPLGKVGDKGSIGFPGPPGPEG    841 - 910
FPGDIGPPGDNGPEGMKGKPGARGLPGPRGQLGPEGDEGPMGPPGAPGLEGQPGRKGFPGRPGLDGVKGE    911 - 980
PGDPGRPGPVGEQGFMGFIGLVGEPGIVGEKGDRGMMGPPGVPGPKGSMGHPGMPGGMGTPGEPGPQGPP    981 - 1050
GSRGPPGMRGAKGRRGPRGPDGPAGEQGSRGLKGPPGPQGRPGRPGQQGVAGERGHLGSRGFPGIPGPSG   1051 - 1120
PPGTKGLPGEPGPQGPQGPIGPPGEMGPKGPPGAVGEPGLPGEAGMKGDLGPLGTPGEQGLIGQRGEPGL   1121 - 1190
EGDSGPMGPDGLKGDRGDPGPDGEHGEKGQEGLMGEDGPPGPPGVTGVRGPEGKSGKQGEKGRTGAKGAK   1191 - 1260
GYQGQLGEMGVPGDPGPPGTPGPKGSRGSLGPTGAPGRMGAQGEPGLAGYDGHKGIVGPLGPPGPKGEKG   1261 - 1330
EQGEDGKAEGPPGPPGDRGPVGDRGDRGEPGDPGYPGQEGVQGLRGKPGQQGQPGHPGPRGWPGPKGSKG   1331 - 1400
AEGPKGKQGKAGAPGRRGVQGLQGLPGPRGVVGRQGLEGIAGPDGLPGRDGQAGQQGEQGDDGDPGPMGP   1401 - 1470
AGKRGNPGVAGLPGAQGPPGFKGESGLPGQLGPPGKRGTEGRTGLPGNQGEPGSKGQPGDSGEMGFPGMA   1471 - 1540
GLFGPKGPPGDIGFKGIQGPRGPPGLMGKEGIVGPLGILGPSGLPGPKGDKGSRGDWGLQGPRGPPGPRG   1541 - 1610
RPGPPGPPGGPIQLQQDDLGAAFQTWMDTSGALRPESYSYPDRLVLDQGGEIFKTLHYLSNLIQSIKTPL   1611 - 1680
GTKENPARVCRDLMDCEQKMVDGTYWVDPNLGCSSDTIEVSCNFTHGGQTCLKPITASKVEFAISRVQMN   1681 - 1750
FLHLLSSEVTQHITIHCLNMTVWQEGTGQTPAKQAVRFRAWNGQIFEAGGQFRPEVSMDGCKVQDGRWHQ   1751 - 1820
TLFTFRTQDPQQLPIISVDNLPPASSGKQYRLEVGPACFL                                 1821 - 1860
//

Text Mined References (17)

PMID Year Title
26235311 2015 Support of positive association in family-based genetic analysis between COL27A1 and Tourette syndrome.
24986830 2015 Mutations in COL27A1 cause Steel syndrome and suggest a founder mutation effect in the Puerto Rican population.
24564958 2014 Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence.
23192621 2013 Investigation of variants within the COL27A1 and TNC genes and Achilles tendinopathy in two populations.
22889924 2013 Genome-wide association study of Tourette's syndrome.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
18978678 2008 Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
18391951 2008 Many sequence variants affecting diversity of adult human height.
17693149 2007 Type XXVII collagen at the transition of cartilage to bone during skeletogenesis.
15922909 2005 The new collagen gene COL27A1 contains SOX9-responsive enhancer elements.
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