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Detailed information for vg0419401156:

Variant ID: vg0419401156 (JBrowse)Variation Type: INDEL
Chromosome: chr04Position: 19401156
Reference Allele: ACTAlternative Allele: A,ACTCT
Primary Allele: ACTSecondary Allele: ACTCT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TGAGAAATAAACACCTGCGATGTCTTAAGCTTCATCAACAGCTCTTTATCTACGGTTTCATCCTTGCTTTCCTCAGCCGGCTCCCTGTTGAATTACACAA[ACT/A,ACTCT]
CTCTCTCTCATTCGACAGCACATAACCTATTGTAATAGATAATCTCCCATGAAACATATCAGAGCATTATGGAAGAAAATATGGAGCGAATCACATACGT

Reverse complement sequence

ACGTATGTGATTCGCTCCATATTTTCTTCCATAATGCTCTGATATGTTTCATGGGAGATTATCTATTACAATAGGTTATGTGCTGTCGAATGAGAGAGAG[AGT/T,AGAGT]
TTGTGTAATTCAACAGGGAGCCGGCTGAGGAAAGCAAGGATGAAACCGTAGATAAAGAGCTGTTGATGAAGCTTAAGACATCGCAGGTGTTTATTTCTCA

Allele Frequencies:

Populations Population SizeFrequency of ACT(primary allele) Frequency of ACTCT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 44.20% 0.00% 4.46% 51.27% A: 0.02%
All Indica  2759 10.70% 0.00% 6.09% 83.18% A: 0.04%
All Japonica  1512 98.20% 0.00% 0.60% 1.19% NA
Aus  269 60.60% 0.00% 10.41% 29.00% NA
Indica I  595 13.30% 0.00% 5.71% 80.84% A: 0.17%
Indica II  465 12.50% 0.00% 4.30% 83.23% NA
Indica III  913 3.00% 0.00% 9.09% 87.95% NA
Indica Intermediate  786 16.70% 0.00% 3.94% 79.39% NA
Temperate Japonica  767 98.20% 0.00% 0.39% 1.43% NA
Tropical Japonica  504 98.40% 0.00% 0.79% 0.79% NA
Japonica Intermediate  241 97.90% 0.00% 0.83% 1.24% NA
VI/Aromatic  96 90.60% 0.00% 3.12% 6.25% NA
Intermediate  90 65.60% 2.20% 3.33% 28.89% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0419401156 ACT -> DEL N N silent_mutation Average:95.19; most accessible tissue: Minghui63 flag leaf, score: 99.917 N N N N
vg0419401156 ACT -> A LOC_Os04g32350.1 intron_variant ; MODIFIER silent_mutation Average:95.19; most accessible tissue: Minghui63 flag leaf, score: 99.917 N N N N
vg0419401156 ACT -> ACTCT LOC_Os04g32350.1 intron_variant ; MODIFIER silent_mutation Average:95.19; most accessible tissue: Minghui63 flag leaf, score: 99.917 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)
vg0419401156 ACT A 0.09 0.08 0.03 0.06 0.07 0.07
vg0419401156 ACT ACTCT -0.2 -0.31 -0.19 -0.07 -0.14 -0.1