Search for Variation information by Variation ID:
Detailed information for vg0802388554:
Variant ID: vg0802388554 (JBrowse) | Variation Type: SNP |
Chromosome: chr08 | Position: 2388554 |
Reference Allele: T | Alternative Allele: C |
Primary Allele: C | Secondary Allele:
T |
Inferred Ancestral Allele: Not determined.
Flanking Sequence (100 bp) in Reference Genome:
ATGTCCACGGTGCGGCCGTCGTGGTGGTAGAGCGGGCAACTGTCTCGCACCTTGTGGAGTGGAATCCCGAGCTGCCTGGCGAGCACGCCGAGCGGGTTGG[T/C]
GTGGATGCCGGTGATGACGCTGCCGCCGAGCTCAACGGCGGCCTGGTCCCCGCCGAGATGAGTGGTGTAGACGCGGCCGCCGGGGCGGGCGCGGCCCTCG
Reverse complement sequence
CGAGGGCCGCGCCCGCCCCGGCGGCCGCGTCTACACCACTCATCTCGGCGGGGACCAGGCCGCCGTTGAGCTCGGCGGCAGCGTCATCACCGGCATCCAC[A/G]
CCAACCCGCTCGGCGTGCTCGCCAGGCAGCTCGGGATTCCACTCCACAAGGTGCGAGACAGTTGCCCGCTCTACCACCACGACGGCCGCACCGTGGACAT
Allele Frequencies:
Rice quantitative trait nucleotides (QTNs) and inferred QTN effects are from Wei et al., Nature Genetics, 2021.
Allele Effect:
Var ID |
Var |
Locus |
snpEff Annotation |
CooVar Annotation |
Chromatin Accessibility Score |
PolyPhen-2 Effect |
PolyPhen-2 Score |
SIFT Effect |
SIFT Score |
vg0802388554 |
T -> C |
LOC_Os08g04780.1 |
missense_variant ;
p.Thr225Ala; MODERATE |
nonsynonymous_codon ; T225A |
Average:92.835; most accessible tissue: Zhenshan97 panicle, score: 96.294 |
possibly damaging |
-1.667 |
TOLERATED |
0.46 |
Effects Predicted by Deep Convolutional Neural Networks
For each variant, we constructed two sequences that contain the variation site and the sequence around it, differing only in the variation site. We then used Basenji to predict the chromatin accessibility of each tissue for the two sequences, respectively, and scored the effect of the variant by comparing the changes in chromatin accessibility corresponding to the two genotypes in the 1 kb region around the variation site. The effect score was defined as the logarithmic ratio of the predicted chromatin accessibility of the alternative genotype to the value of the reference genotype.
Var ID |
Ref |
Alt |
Root (RT) |
Young Leaf (YL) |
Flag Leaf (FL) |
Young Panicle (YP) |
Lemma & Palea (LP) |
Stamen & Pistil (SP) |
vg0802388554 |
T |
C |
-0.01 |
0.0 |
-0.01 |
0.0 |
-0.01 |
-0.01 |
Putative Genotype-Phenotype Associations:
Var ID |
LMM P-value |
LR P-value |
Trait |
Subpopulation |
Is leadSNP |
Publication |
vg0802388554 |
1.03E-07 |
6.74E-09 |
mr1588_2 |
Jap_All |
YES |
Genome-wide association analyses provide genetic and biochemical insights into natural variation in rice metabolism, Nat Genet, 46(7):714-21, PMID:24908251 |