전사조절 영역내의 인간 SNP (단일염기다형성) 데이터베이스 = SNP@Promoter : A database of Human SNPs (Single Nucleotide Polymorphisms) in transcription regulatory regions

다국어 초록 (Multilingual Abstract)

SNP analysis is becoming a key research in biology. Previously many functional SNPs analyses were carried out for coding regions and splicing sites. SNPs in non-coding regulatory regions are also important for biological regulation. Presently, there are few databases for SNPs in non-coding regulatory regions. We present SNP@Promoter database. It is an extensive SNP data resource for functional analyses. We identified 488,452 human SNPs in the transcription regulatory regions that extended from +5000bp to -500bp region of transcription start sites. Some SNPs occurring in potential TF binding sites were also predicted (47,832 SNP; 9.8%). The result is stored in a database. Users can search the SNP@Promoter database using three entries: (1) SNPidentifier (rs number from dbSNP), (2) gene (gene name, gene symbol, refSeq ID), and (3) a disease term. The SNP@Promoter database provides extensive genetic information and graphical views of queried terms. It is for predicting functional SNPs in transcription regulatory regions and predicted transcription factor binding sites. In conclusion, the SNP@Promoter database will assist researchers to identify functional SNPs in non-coding regions.
Availability: The SNP@Promoter database can be accessed through http://variome.net and directly http://variome.kobic.re.kr/SNPatPromoter

목차 (Table of Contents)

• Ⅰ. 서론 1
• Ⅱ. 방법 4
• 1. 전사조절영역내의 전사조절인자 결합영역 예측 4
• 2. 전사조절영역내의 SNP선별 4
• 3. 예측된 전사조절인자 결합영역의 진화적 보존정도 계산 6
• 4. 유전자 기능정보와의 연결 6
• Ⅲ. 결과 7
• Ⅳ. 논의 13
• Ⅴ. 참고문헌 19
• 국문요약 23
• ABSTRACT 25