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Detailed information for vg0520258845:

Variant ID: vg0520258845 (JBrowse)Variation Type: INDEL
Chromosome: chr05Position: 20258845
Reference Allele: TCGGAlternative Allele: TCGGCGGCGG,T
Primary Allele: TCGGCGGCGGSecondary Allele: TCGG

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AGGTTCAGGTGGCTCAACGGCGGCGTCCCCGACGCGCTCAAGCAGCTGGAGGATGAGCTCAATCAGCTCCGCGCCGAGGCGGGCTGCGTCGAGCGCTGCC[TCGG/TCGGCGGCGG,T]
CGGCGGCGGCGGCGGGAGAGGCAACTGTGAGCTCGTACGCTGGCTGCGCCAGCTCAAGGAGGTGGTGTACGAGGCCGACGACGTCCTCGACGAGTTCGCC

Reverse complement sequence

GGCGAACTCGTCGAGGACGTCGTCGGCCTCGTACACCACCTCCTTGAGCTGGCGCAGCCAGCGTACGAGCTCACAGTTGCCTCTCCCGCCGCCGCCGCCG[CCGA/CCGCCGCCGA,A]
GGCAGCGCTCGACGCAGCCCGCCTCGGCGCGGAGCTGATTGAGCTCATCCTCCAGCTGCTTGAGCGCGTCGGGGACGCCGCCGTTGAGCCACCTGAACCT

Allele Frequencies:

Populations Population SizeFrequency of TCGGCGGCGG(primary allele) Frequency of TCGG(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 74.20% 25.30% 0.34% 0.00% T: 0.15%
All Indica  2759 95.90% 3.70% 0.22% 0.00% T: 0.25%
All Japonica  1512 35.60% 64.10% 0.26% 0.00% NA
Aus  269 94.10% 4.10% 1.86% 0.00% NA
Indica I  595 97.10% 2.20% 0.67% 0.00% NA
Indica II  465 95.30% 4.50% 0.22% 0.00% NA
Indica III  913 95.50% 3.90% 0.00% 0.00% T: 0.55%
Indica Intermediate  786 95.70% 3.90% 0.13% 0.00% T: 0.25%
Temperate Japonica  767 5.20% 94.70% 0.13% 0.00% NA
Tropical Japonica  504 88.90% 10.50% 0.60% 0.00% NA
Japonica Intermediate  241 21.20% 78.80% 0.00% 0.00% NA
VI/Aromatic  96 4.20% 95.80% 0.00% 0.00% NA
Intermediate  90 75.60% 23.30% 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
vg0520258845 TCGG -> TCGGCGGCGG LOC_Os05g34220.1 disruptive_inframe_insertion ; p.Gly67_Gly68dup; MODERATE inframe_variant Average:95.318; most accessible tissue: Zhenshan97 flag leaf, score: 99.089 N N N N
vg0520258845 TCGG -> TCGGCGGCGG LOC_Os05g34220.2 disruptive_inframe_insertion ; p.Gly67_Gly68dup; MODERATE inframe_variant Average:95.318; most accessible tissue: Zhenshan97 flag leaf, score: 99.089 N N N N
vg0520258845 TCGG -> T LOC_Os05g34220.1 disruptive_inframe_deletion ; p.Gly68del; MODERATE inframe_variant Average:95.318; most accessible tissue: Zhenshan97 flag leaf, score: 99.089 N N N N
vg0520258845 TCGG -> T LOC_Os05g34220.2 disruptive_inframe_deletion ; p.Gly68del; MODERATE inframe_variant Average:95.318; most accessible tissue: Zhenshan97 flag leaf, score: 99.089 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)
vg0520258845 TCGG T -0.1 -0.1 -0.02 -0.04 -0.03 -0.03
vg0520258845 TCGG TCGGC* -0.11 -0.1 -0.01 0.03 -0.02 -0.03