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Detailed information for vg0427576394:

Variant ID: vg0427576394 (JBrowse)Variation Type: INDEL
Chromosome: chr04Position: 27576394
Reference Allele: TAlternative Allele: TGTG
Primary Allele: TGTGSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GAACGTGAGCACCCCCTCCAGGATCCCCGCCCCGAACCCGGTCATCTCCACCGCGATCCTCGTCGTCGGCACGGCCTGTGTGTGCAAACGCGCGTTAGTC[T/TGTG]
ACGCAAAGTTAAGGACATTTCGATCGGAAGTGATCTTGCCTGGCCGGCGGAGATGTAGTGGAGGACGAGGCAGGCGAACGTGGAGCCGAGCATCTGAGAC

Reverse complement sequence

GTCTCAGATGCTCGGCTCCACGTTCGCCTGCCTCGTCCTCCACTACATCTCCGCCGGCCAGGCAAGATCACTTCCGATCGAAATGTCCTTAACTTTGCGT[A/CACA]
GACTAACGCGCGTTTGCACACACAGGCCGTGCCGACGACGAGGATCGCGGTGGAGATGACCGGGTTCGGGGCGGGGATCCTGGAGGGGGTGCTCACGTTC

Allele Frequencies:

Populations Population SizeFrequency of TGTG(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 54.00% 45.60% 0.21% 0.23% NA
All Indica  2759 83.80% 15.50% 0.25% 0.40% NA
All Japonica  1512 0.60% 99.30% 0.13% 0.00% NA
Aus  269 72.90% 27.10% 0.00% 0.00% NA
Indica I  595 80.30% 19.00% 0.17% 0.50% NA
Indica II  465 92.30% 7.10% 0.22% 0.43% NA
Indica III  913 83.10% 16.30% 0.33% 0.22% NA
Indica Intermediate  786 82.30% 16.90% 0.25% 0.51% NA
Temperate Japonica  767 0.50% 99.50% 0.00% 0.00% NA
Tropical Japonica  504 0.60% 99.20% 0.20% 0.00% NA
Japonica Intermediate  241 0.80% 98.80% 0.41% 0.00% NA
VI/Aromatic  96 1.00% 99.00% 0.00% 0.00% NA
Intermediate  90 35.60% 63.30% 1.11% 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
vg0427576394 T -> DEL N N silent_mutation Average:85.058; most accessible tissue: Zhenshan97 panicle, score: 93.657 N N N N
vg0427576394 T -> TGTG LOC_Os04g46480.1 upstream_gene_variant ; 3679.0bp to feature; MODIFIER silent_mutation Average:85.058; most accessible tissue: Zhenshan97 panicle, score: 93.657 N N N N
vg0427576394 T -> TGTG LOC_Os04g46480.2 upstream_gene_variant ; 3679.0bp to feature; MODIFIER silent_mutation Average:85.058; most accessible tissue: Zhenshan97 panicle, score: 93.657 N N N N
vg0427576394 T -> TGTG LOC_Os04g46490.1 intron_variant ; MODIFIER silent_mutation Average:85.058; most accessible tissue: Zhenshan97 panicle, score: 93.657 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)
vg0427576394 T TGTG -0.07 -0.09 -0.12 -0.14 -0.13 -0.14