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Detailed information for vg0503843930:

Variant ID: vg0503843930 (JBrowse)Variation Type: INDEL
Chromosome: chr05Position: 3843930
Reference Allele: TGCGAlternative Allele: T,TGCGGCGGCG,TGCGGCG
Primary Allele: TGCGSecondary Allele: TGCGGCGGCG

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ACGCGGCGGCGTACACCGCCGTCGTCGACGACGACGACGCCGATGCCGGCAGCGTCGCCGTCGTCACTACCCCCATGGTGCCAGCAACGGGCAGCTGGCG[TGCG/T,TGCGGCGGCG,TGCGGCG]
GCGGCGGCGGCGGCGAGGAGGTGCGAGGCGTGGGAGGAAGGGAGCACGGCGGCGGCGGAGGGGAGGCGGTACTTGTGCCTGACGATGTCGGCGCGGACGG

Reverse complement sequence

CCGTCCGCGCCGACATCGTCAGGCACAAGTACCGCCTCCCCTCCGCCGCCGCCGTGCTCCCTTCCTCCCACGCCTCGCACCTCCTCGCCGCCGCCGCCGC[CGCA/A,CGCCGCCGCA,CGCCGCA]
CGCCAGCTGCCCGTTGCTGGCACCATGGGGGTAGTGACGACGGCGACGCTGCCGGCATCGGCGTCGTCGTCGTCGACGACGGCGGTGTACGCCGCCGCGT

Allele Frequencies:

Populations Population SizeFrequency of TGCG(primary allele) Frequency of TGCGGCGGCG(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 99.60% 0.30% 0.04% 0.00% TGCGGCG: 0.08%; T: 0.02%
All Indica  2759 99.40% 0.40% 0.07% 0.00% TGCGGCG: 0.07%; T: 0.04%
All Japonica  1512 99.90% 0.00% 0.00% 0.00% TGCGGCG: 0.13%
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 99.80% 0.00% 0.17% 0.00% NA
Indica II  465 99.80% 0.00% 0.22% 0.00% NA
Indica III  913 98.40% 1.30% 0.00% 0.00% TGCGGCG: 0.22%; T: 0.11%
Indica Intermediate  786 100.00% 0.00% 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 99.20% 0.00% 0.00% 0.00% TGCGGCG: 0.83%
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 100.00% 0.00% 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
vg0503843930 TGCG -> T LOC_Os05g07270.1 disruptive_inframe_deletion ; p.Ala156del; MODERATE N Average:83.238; most accessible tissue: Zhenshan97 root, score: 87.992 N N N N
vg0503843930 TGCG -> T LOC_Os05g07250.1 downstream_gene_variant ; 4601.0bp to feature; MODIFIER N Average:83.238; most accessible tissue: Zhenshan97 root, score: 87.992 N N N N
vg0503843930 TGCG -> T LOC_Os05g07260.1 downstream_gene_variant ; 762.0bp to feature; MODIFIER N Average:83.238; most accessible tissue: Zhenshan97 root, score: 87.992 N N N N
vg0503843930 TGCG -> T LOC_Os05g07260.2 downstream_gene_variant ; 773.0bp to feature; MODIFIER N Average:83.238; most accessible tissue: Zhenshan97 root, score: 87.992 N N N N
vg0503843930 TGCG -> T LOC_Os05g07260.4 downstream_gene_variant ; 773.0bp to feature; MODIFIER N Average:83.238; most accessible tissue: Zhenshan97 root, score: 87.992 N N N N
vg0503843930 TGCG -> T LOC_Os05g07260.3 downstream_gene_variant ; 762.0bp to feature; MODIFIER N Average:83.238; most accessible tissue: Zhenshan97 root, score: 87.992 N N N N
vg0503843930 TGCG -> TGCGGCGGCG LOC_Os05g07270.1 inframe_insertion ; p.Ala154_Ala155dup; MODERATE N Average:83.238; most accessible tissue: Zhenshan97 root, score: 87.992 N N N N
vg0503843930 TGCG -> TGCGGCGGCG LOC_Os05g07250.1 downstream_gene_variant ; 4604.0bp to feature; MODIFIER N Average:83.238; most accessible tissue: Zhenshan97 root, score: 87.992 N N N N
vg0503843930 TGCG -> TGCGGCGGCG LOC_Os05g07260.1 downstream_gene_variant ; 765.0bp to feature; MODIFIER N Average:83.238; most accessible tissue: Zhenshan97 root, score: 87.992 N N N N
vg0503843930 TGCG -> TGCGGCGGCG LOC_Os05g07260.2 downstream_gene_variant ; 776.0bp to feature; MODIFIER N Average:83.238; most accessible tissue: Zhenshan97 root, score: 87.992 N N N N
vg0503843930 TGCG -> TGCGGCGGCG LOC_Os05g07260.4 downstream_gene_variant ; 776.0bp to feature; MODIFIER N Average:83.238; most accessible tissue: Zhenshan97 root, score: 87.992 N N N N
vg0503843930 TGCG -> TGCGGCGGCG LOC_Os05g07260.3 downstream_gene_variant ; 765.0bp to feature; MODIFIER N Average:83.238; most accessible tissue: Zhenshan97 root, score: 87.992 N N N N
vg0503843930 TGCG -> TGCGGCG LOC_Os05g07270.1 inframe_insertion ; p.Ala155dup; MODERATE N Average:83.238; most accessible tissue: Zhenshan97 root, score: 87.992 N N N N
vg0503843930 TGCG -> TGCGGCG LOC_Os05g07250.1 downstream_gene_variant ; 4604.0bp to feature; MODIFIER N Average:83.238; most accessible tissue: Zhenshan97 root, score: 87.992 N N N N
vg0503843930 TGCG -> TGCGGCG LOC_Os05g07260.1 downstream_gene_variant ; 765.0bp to feature; MODIFIER N Average:83.238; most accessible tissue: Zhenshan97 root, score: 87.992 N N N N
vg0503843930 TGCG -> TGCGGCG LOC_Os05g07260.2 downstream_gene_variant ; 776.0bp to feature; MODIFIER N Average:83.238; most accessible tissue: Zhenshan97 root, score: 87.992 N N N N
vg0503843930 TGCG -> TGCGGCG LOC_Os05g07260.4 downstream_gene_variant ; 776.0bp to feature; MODIFIER N Average:83.238; most accessible tissue: Zhenshan97 root, score: 87.992 N N N N
vg0503843930 TGCG -> TGCGGCG LOC_Os05g07260.3 downstream_gene_variant ; 765.0bp to feature; MODIFIER N Average:83.238; most accessible tissue: Zhenshan97 root, score: 87.992 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)
vg0503843930 TGCG T 0.1 -0.04 -0.04 -0.05 -0.07 -0.05
vg0503843930 TGCG TGCGG* 0.11 0.03 0.0 0.06 0.08 0.2