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Detailed information for vg0233442492:

Variant ID: vg0233442492 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 33442492
Reference Allele: AGAAGAlternative Allele: A,AAAG
Primary Allele: ASecondary Allele: AGAAG

Inferred Ancestral Allele : AGAAG (evidence from allele frequency in Oryza rufipogon: AGAAG: 0.82, A: 0.14, AAAG: 0.04, others allele: 0.00, population size: 76. )

Flanking Sequence (100 bp) in Reference Genome:


AATAAATTAATTAAGAAGAAATTGCTTTCTTAACAACCCATATTATATGATGATCATTTGGAAGAACATGAACTTAATTGGAAGAAGAAGAAGAAAAAAA[AGAAG/A,AAAG]
AAGAAGAGATTAAAGAAAAGTTGAGGAGGGGAAGGGGAGGAGAGGAGAGGAGCTTAATTCCAGGAGCAACAGCGACAAGAGAGGGGATGATGATGAGGGT

Reverse complement sequence

ACCCTCATCATCATCCCCTCTCTTGTCGCTGTTGCTCCTGGAATTAAGCTCCTCTCCTCTCCTCCCCTTCCCCTCCTCAACTTTTCTTTAATCTCTTCTT[CTTCT/T,CTTT]
TTTTTTTCTTCTTCTTCTTCCAATTAAGTTCATGTTCTTCCAAATGATCATCATATAATATGGGTTGTTAAGAAAGCAATTTCTTCTTAATTAATTTATT

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of AGAAG(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 49.70% 45.20% 2.05% 0.00% AAAG: 3.03%
All Indica  2759 81.70% 9.90% 3.41% 0.00% AAAG: 5.04%
All Japonica  1512 0.80% 99.10% 0.07% 0.00% NA
Aus  269 22.70% 77.30% 0.00% 0.00% NA
Indica I  595 86.20% 2.20% 8.07% 0.00% AAAG: 3.53%
Indica II  465 82.80% 6.00% 2.80% 0.00% AAAG: 8.39%
Indica III  913 83.00% 14.20% 0.55% 0.00% AAAG: 2.19%
Indica Intermediate  786 76.10% 12.80% 3.56% 0.00% AAAG: 7.51%
Temperate Japonica  767 1.20% 98.70% 0.13% 0.00% NA
Tropical Japonica  504 0.00% 100.00% 0.00% 0.00% NA
Japonica Intermediate  241 1.20% 98.80% 0.00% 0.00% NA
VI/Aromatic  96 2.10% 97.90% 0.00% 0.00% NA
Intermediate  90 23.30% 70.00% 2.22% 0.00% AAAG: 4.44%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0233442492 AGAAG -> A LOC_Os02g54600.1 3_prime_UTR_variant ; 236.0bp to feature; MODIFIER silent_mutation Average:94.812; most accessible tissue: Minghui63 flower, score: 98.285 N N N N
vg0233442492 AGAAG -> A LOC_Os02g54590.1 downstream_gene_variant ; 3279.0bp to feature; MODIFIER silent_mutation Average:94.812; most accessible tissue: Minghui63 flower, score: 98.285 N N N N
vg0233442492 AGAAG -> AAAG LOC_Os02g54600.1 3_prime_UTR_variant ; 239.0bp to feature; MODIFIER silent_mutation Average:94.812; most accessible tissue: Minghui63 flower, score: 98.285 N N N N
vg0233442492 AGAAG -> AAAG LOC_Os02g54590.1 downstream_gene_variant ; 3279.0bp to feature; MODIFIER silent_mutation Average:94.812; most accessible tissue: Minghui63 flower, score: 98.285 N N N N

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)
vg0233442492 AGAAG A 0.14 0.57 0.33 0.22 0.17 0.13
vg0233442492 AGAAG AAAG 0.17 0.39 0.32 0.13 0.19 0.23