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Detailed information for vg0607662261:

Variant ID: vg0607662261 (JBrowse)Variation Type: INDEL
Chromosome: chr06Position: 7662261
Reference Allele: GCTACTAAlternative Allele: GCTACTACTA,GCTA,GCTACTACTACTA,G
Primary Allele: GCTACTASecondary Allele: GCTACTACTA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CTCCCCCGATCTGATCCAGTTCTGATCTGCTTCGTGCAGGGGGCGGGCAAGTCGGCCGTGCTGAACAGCCTCATCGGCCACCCCGTGCTGGTGAGCTCGT[GCTACTA/GCTACTACTA,GCTA,GCTACTACTACTA,G]
CTACTACTACTACTACCCGACAACTAGCTCTTCGCCTATTTCCATTTTTTGATTCTTAGATTTGGGGGTGGTGGTGGTGCTTGGGGTGCAGCCGACGGGG

Reverse complement sequence

CCCCGTCGGCTGCACCCCAAGCACCACCACCACCCCCAAATCTAAGAATCAAAAAATGGAAATAGGCGAAGAGCTAGTTGTCGGGTAGTAGTAGTAGTAG[TAGTAGC/TAGTAGTAGC,TAGC,TAGTAGTAGTAGC,C]
ACGAGCTCACCAGCACGGGGTGGCCGATGAGGCTGTTCAGCACGGCCGACTTGCCCGCCCCCTGCACGAAGCAGATCAGAACTGGATCAGATCGGGGGAG

Allele Frequencies:

Populations Population SizeFrequency of GCTACTA(primary allele) Frequency of GCTACTACTA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 93.80% 4.80% 0.28% 0.00% GCTA: 1.06%; GCTACTACTACTA: 0.04%; G: 0.04%
All Indica  2759 90.00% 7.60% 0.47% 0.00% GCTA: 1.81%; GCTACTACTACTA: 0.07%
All Japonica  1512 99.50% 0.50% 0.00% 0.00% NA
Aus  269 98.50% 1.50% 0.00% 0.00% NA
Indica I  595 80.70% 11.60% 0.34% 0.00% GCTA: 7.39%
Indica II  465 98.90% 1.10% 0.00% 0.00% NA
Indica III  913 93.20% 6.20% 0.33% 0.00% GCTACTACTACTA: 0.22%
Indica Intermediate  786 88.20% 10.10% 1.02% 0.00% GCTA: 0.76%
Temperate Japonica  767 99.60% 0.40% 0.00% 0.00% NA
Tropical Japonica  504 99.20% 0.80% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 94.40% 3.30% 0.00% 0.00% G: 2.22%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0607662261 GCTACTA -> G LOC_Os06g13820.1 intron_variant ; MODIFIER silent_mutation Average:95.055; most accessible tissue: Zhenshan97 flag leaf, score: 98.158 N N N N
vg0607662261 GCTACTA -> G LOC_Os06g13820.2 intron_variant ; MODIFIER silent_mutation Average:95.055; most accessible tissue: Zhenshan97 flag leaf, score: 98.158 N N N N
vg0607662261 GCTACTA -> GCTA LOC_Os06g13820.1 intron_variant ; MODIFIER silent_mutation Average:95.055; most accessible tissue: Zhenshan97 flag leaf, score: 98.158 N N N N
vg0607662261 GCTACTA -> GCTA LOC_Os06g13820.2 intron_variant ; MODIFIER silent_mutation Average:95.055; most accessible tissue: Zhenshan97 flag leaf, score: 98.158 N N N N
vg0607662261 GCTACTA -> GCTACTACTACTA LOC_Os06g13820.1 intron_variant ; MODIFIER silent_mutation Average:95.055; most accessible tissue: Zhenshan97 flag leaf, score: 98.158 N N N N
vg0607662261 GCTACTA -> GCTACTACTACTA LOC_Os06g13820.2 intron_variant ; MODIFIER silent_mutation Average:95.055; most accessible tissue: Zhenshan97 flag leaf, score: 98.158 N N N N
vg0607662261 GCTACTA -> GCTACTACTA LOC_Os06g13820.1 intron_variant ; MODIFIER silent_mutation Average:95.055; most accessible tissue: Zhenshan97 flag leaf, score: 98.158 N N N N
vg0607662261 GCTACTA -> GCTACTACTA LOC_Os06g13820.2 intron_variant ; MODIFIER silent_mutation Average:95.055; most accessible tissue: Zhenshan97 flag leaf, score: 98.158 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)
vg0607662261 GCTAC* G 0.05 0.08 0.07 0.02 0.01 0.0
vg0607662261 GCTAC* GCTA -0.02 0.01 -0.01 0.01 -0.02 -0.03
vg0607662261 GCTAC* GCTAC* -0.07 -0.14 -0.12 0.0 -0.05 -0.05