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Detailed information for vg0204867716:

Variant ID: vg0204867716 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 4867716
Reference Allele: AAlternative Allele: AAGG
Primary Allele: ASecondary Allele: AAGG

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCCACCGTCTCCTTCCCCCCACCGCCTATATAATCCCCTCTCCCTCTTCCTCTCGCCATCGAGTCCGACACGTCCACATCGCCATTAGAGCAGCTCGAGG[A/AAGG]
AGGAGGAGGAGGAGGTTGATTCGATGGGGATGGAGGCGGAGTGCGATAGGATAAAGGGGCCATGGAGCCCTGAGGAGGACGAGGCGCTGCGGCGGCTGGT

Reverse complement sequence

ACCAGCCGCCGCAGCGCCTCGTCCTCCTCAGGGCTCCATGGCCCCTTTATCCTATCGCACTCCGCCTCCATCCCCATCGAATCAACCTCCTCCTCCTCCT[T/CCTT]
CCTCGAGCTGCTCTAATGGCGATGTGGACGTGTCGGACTCGATGGCGAGAGGAAGAGGGAGAGGGGATTATATAGGCGGTGGGGGGAAGGAGACGGTGGC

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of AAGG(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 97.10% 2.90% 0.00% 0.00% NA
All Indica  2759 98.40% 1.60% 0.00% 0.00% NA
All Japonica  1512 100.00% 0.00% 0.00% 0.00% NA
Aus  269 81.40% 18.60% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 97.60% 2.40% 0.00% 0.00% NA
Indica III  913 98.50% 1.50% 0.00% 0.00% NA
Indica Intermediate  786 97.60% 2.40% 0.00% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 61.50% 38.50% 0.00% 0.00% NA
Intermediate  90 94.40% 5.60% 0.00% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0204867716 A -> AAGG LOC_Os02g09480.1 5_prime_UTR_variant ; 8.0bp to feature; MODIFIER silent_mutation Average:99.744; most accessible tissue: Minghui63 young leaf, score: 99.942 N N N N
vg0204867716 A -> AAGG LOC_Os02g09470.1 downstream_gene_variant ; 4842.0bp to feature; MODIFIER silent_mutation Average:99.744; most accessible tissue: Minghui63 young leaf, score: 99.942 N N N N
vg0204867716 A -> AAGG LOC_Os02g09490.1 downstream_gene_variant ; 2425.0bp to feature; MODIFIER silent_mutation Average:99.744; most accessible tissue: Minghui63 young leaf, score: 99.942 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)
vg0204867716 A AAGG 0.01 -0.02 -0.09 -0.11 -0.08 -0.09