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Detailed information for vg0419400569:

Variant ID: vg0419400569 (JBrowse)Variation Type: INDEL
Chromosome: chr04Position: 19400569
Reference Allele: GAAAlternative Allele: G,GA,GAAA
Primary Allele: GAASecondary Allele: GAAA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCGAACCACACACTTGTACTTGACCAACTAAGAAACCACTTGCAATTGTGCAGCAGATATAGTTCAAGGGTCGGTGTACAAGTTCTTTTCTTTTCTTTTT[GAA/G,GA,GAAA]
AAAAAAAAGGATATGCATTGCCTAGTAGATTAAGATTGGTCATACAAGTAAAAACACTCATGTGGCCAGCTGAATCAGGAAAAATCCATTGAGCAATGAA

Reverse complement sequence

TTCATTGCTCAATGGATTTTTCCTGATTCAGCTGGCCACATGAGTGTTTTTACTTGTATGACCAATCTTAATCTACTAGGCAATGCATATCCTTTTTTTT[TTC/C,TC,TTTC]
AAAAAGAAAAGAAAAGAACTTGTACACCGACCCTTGAACTATATCTGCTGCACAATTGCAAGTGGTTTCTTAGTTGGTCAAGTACAAGTGTGTGGTTCGG

Allele Frequencies:

Populations Population SizeFrequency of GAA(primary allele) Frequency of GAAA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 32.70% 2.40% 8.89% 55.82% GA: 0.17%
All Indica  2759 2.60% 0.10% 7.83% 89.13% GA: 0.25%
All Japonica  1512 91.50% 4.60% 1.92% 1.92% NA
Aus  269 3.00% 0.00% 56.13% 40.52% GA: 0.37%
Indica I  595 4.20% 0.30% 7.06% 87.73% GA: 0.67%
Indica II  465 3.90% 0.00% 6.24% 89.89% NA
Indica III  913 0.40% 0.00% 5.59% 93.98% NA
Indica Intermediate  786 3.30% 0.30% 11.96% 84.10% GA: 0.38%
Temperate Japonica  767 96.90% 0.10% 1.04% 1.96% NA
Tropical Japonica  504 92.10% 5.40% 0.79% 1.79% NA
Japonica Intermediate  241 73.40% 17.40% 7.05% 2.07% NA
VI/Aromatic  96 45.80% 35.40% 8.33% 10.42% NA
Intermediate  90 41.10% 6.70% 17.78% 34.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0419400569 GAA -> DEL N N silent_mutation Average:97.602; most accessible tissue: Minghui63 flag leaf, score: 99.936 N N N N
vg0419400569 GAA -> GAAA LOC_Os04g32350.1 intron_variant ; MODIFIER silent_mutation Average:97.602; most accessible tissue: Minghui63 flag leaf, score: 99.936 N N N N
vg0419400569 GAA -> G LOC_Os04g32350.1 intron_variant ; MODIFIER N Average:97.602; most accessible tissue: Minghui63 flag leaf, score: 99.936 N N N N
vg0419400569 GAA -> GA LOC_Os04g32350.1 intron_variant ; MODIFIER silent_mutation Average:97.602; most accessible tissue: Minghui63 flag leaf, score: 99.936 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)
vg0419400569 GAA G 0.05 -0.12 -0.1 -0.04 0.0 0.19
vg0419400569 GAA GA 0.02 -0.16 -0.11 -0.05 -0.03 0.03
vg0419400569 GAA GAAA 0.07 -0.06 -0.01 0.0 0.03 0.08