Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg0520266468:

Variant ID: vg0520266468 (JBrowse)Variation Type: INDEL
Chromosome: chr05Position: 20266468
Reference Allele: CACAAlternative Allele: C
Primary Allele: CACASecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGCTAGGGTTAGCTTGGCGCGGCGGCGGTTGTTGCTTGTGCCGACGAGCAATTGGGGGCGTCGTCGTCGTCGATTTGGGGGAAATTTGGGTGGGGCGGTT[CACA/C]
ACTTCACATTACGAGGACCAGCTGACCAAGTCGTCGTTTTTGCTTGGTGCTAGGATTAGCTGACCGGGTCAAAGTCCAAGCTCCCGCGTTCAAAGAGGGC

Reverse complement sequence

GCCCTCTTTGAACGCGGGAGCTTGGACTTTGACCCGGTCAGCTAATCCTAGCACCAAGCAAAAACGACGACTTGGTCAGCTGGTCCTCGTAATGTGAAGT[TGTG/G]
AACCGCCCCACCCAAATTTCCCCCAAATCGACGACGACGACGCCCCCAATTGCTCGTCGGCACAAGCAACAACCGCCGCCGCGCCAAGCTAACCCTAGCC

Allele Frequencies:

Populations Population SizeFrequency of CACA(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 66.20% 18.00% 10.81% 4.99% NA
All Indica  2759 71.30% 2.60% 18.16% 8.01% NA
All Japonica  1512 64.90% 34.10% 0.33% 0.60% NA
Aus  269 10.00% 89.60% 0.37% 0.00% NA
Indica I  595 65.20% 0.30% 28.74% 5.71% NA
Indica II  465 60.40% 1.70% 24.30% 13.55% NA
Indica III  913 85.90% 1.30% 7.12% 5.70% NA
Indica Intermediate  786 65.30% 6.20% 19.34% 9.16% NA
Temperate Japonica  767 96.90% 1.60% 0.52% 1.04% NA
Tropical Japonica  504 9.10% 90.70% 0.00% 0.20% NA
Japonica Intermediate  241 80.10% 19.50% 0.41% 0.00% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 65.60% 23.30% 4.44% 6.67% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0520266468 CACA -> DEL N N silent_mutation Average:97.987; most accessible tissue: Zhenshan97 flag leaf, score: 99.455 N N N N
vg0520266468 CACA -> C LOC_Os05g34230.1 5_prime_UTR_variant ; 108.0bp to feature; MODIFIER silent_mutation Average:97.987; most accessible tissue: Zhenshan97 flag leaf, score: 99.455 N N N N
vg0520266468 CACA -> C LOC_Os05g34220.1 downstream_gene_variant ; 4290.0bp to feature; MODIFIER silent_mutation Average:97.987; most accessible tissue: Zhenshan97 flag leaf, score: 99.455 N N N N
vg0520266468 CACA -> C LOC_Os05g34240.1 downstream_gene_variant ; 1230.0bp to feature; MODIFIER silent_mutation Average:97.987; most accessible tissue: Zhenshan97 flag leaf, score: 99.455 N N N N
vg0520266468 CACA -> C LOC_Os05g34220.2 downstream_gene_variant ; 3995.0bp to feature; MODIFIER silent_mutation Average:97.987; most accessible tissue: Zhenshan97 flag leaf, score: 99.455 N N N N
vg0520266468 CACA -> C LOC_Os05g34240.2 downstream_gene_variant ; 1230.0bp to feature; MODIFIER silent_mutation Average:97.987; most accessible tissue: Zhenshan97 flag leaf, score: 99.455 N N N N
vg0520266468 CACA -> C LOC_Os05g34240.3 downstream_gene_variant ; 1230.0bp to feature; MODIFIER silent_mutation Average:97.987; most accessible tissue: Zhenshan97 flag leaf, score: 99.455 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)
vg0520266468 CACA C -0.01 0.05 0.09 0.04 0.07 0.07