Risk Analysis Flow VERY HIGHT VERY LOW RISK LEVEL HIGH MEDIUM No Splice-site? Yes Risk : High Splice site No SNPs in intron and untranslated region are not analyzed Non-synonymous? Risk : Very High Non-sense? Coding? Risk : High ESE or ESS Motif Diminished? Risk : Medium Non-sense Mis-sense (non-conservative change) Risk : High Mis-sense (protein domain abolished) Mis-sense (conservative change) Protein Structure Affection? ESE or ESS Motif Diminished? Protein Domain Abolished? Risk : High Splicing regulation (protein domain abolished) Protein Domain Abolished? Risk : Medium Splicing regulation Risk : Very Low Sense Variations in Transcripts Yes Yes Yes Yes Yes Yes Yes Yes No No No No No No No
Input for FANS
Submitting a Variation
Species: Human or Mouse
Position: chromosome position
Strand: +, -
New Alleles: A, T, C, or G
2. Gene 3. Transcript 4. Variation
Part 1 : Overview
Overall variation info & risk level
Mouse-over a variation for more information, or click for details.
Part 2 : Gene Structure
List Genes containing variations
Select a gene, and pick up a transcript to show the variations.
Part 3 : Transcripts
Show variations in a transcript.
Click tabs to switch transcripts.
A variation in different transcripts may have different effects.
Part 4 : Analysis Flow
Risk Types & Risk Levels High Alters GT-AG splice site Splice site Non-coding Very Low Does not change amino acid and disrupt exon splicing regulation Sense Medium Disrupts exon splicing regulation, make the same protein domain Splicing regulation High Disrupts exon splicing regulation, make protein domain abolished Splicing regulation (protein domain abolished) Medium Does not change ESE, ESS and known protein domain and results in analogous protein structure Mis-sense (conservative change) High Changes ESE, ESS and known protein domain and results in protein structure abolished Mis-sense (protein domain abolished) High Predicts to affect protein structure Mis-sense (non-conservative change) Very High Causes premature stop codon and affects protein function Non-sense Coding Risk level Possible functional effect Risk type Coding type
Performance A benchmarking test result of 10 variations analysis 1 47 Result pages 118 s 3968 s Time 170 Calculation 120 Fas-ESS 120 Rescue-ESE 100 SIFT 80 Ensembl 4 940 350 NCBI Steps FANS Manual
One point mutation on human chromosome 4 at position 1,775,917 causes a nucleotide change to cytosine.
Achondroplasia ( 軟骨發育不全症 )
Achondroplasia is one of the most common causes of dwarfism. The appearance is of short stature with disproportionately short arms and legs and a large head.
Mutations involve the gene encoding fibroblast growth factor receptor 3 ( FGFR3 ), situated on chromosome 4. Most commonly, a point mutation causes the substitution of arginine for glycine ( G380R ) in the transmembrane region of the receptor.
Bug Report / New Feature Request http://jira.ngc.sinica.edu.tw:8080/browse/GPE
Tel: (02) 26523976 # 123 陳衍豪
IBMS N801 - Biomedical IT
Thanks for listening
Wang, Z., Rolish, M.E., Yeo, G., Tung, V., Mawson, M. and Burge, C.B. (2004) Systematic identification and analysis of exonic splicing silencers, Cell, 119, 831-845.
Ng, P.C. and Henikoff, S. (2003) SIFT : Predicting amino acid changes that affect protein function, Nucleic acids research, 31, 3812-3814.
Fairbrother, W.G., Yeo, G.W., Yeh, R., Goldstein, P., Mawson, M., Sharp, P.A. and Burge, C.B. (2004) RESCUE-ESE identifies candidate exonic splicing enhancers in vertebrate exons, Nucleic acids research, 32, W187-190.
Yuan, H.Y., Chiou, J.J., Tseng, W.H., Liu, C.H., Liu, C.K., Lin, Y.J., Wang, H.H., Yao, A., Chen, Y.T. and Hsu, C.N. (2006) FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization, Nucleic acids research, 34, W635-641.