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Detailed information for vg0207063677:

Variant ID: vg0207063677 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 7063677
Reference Allele: AAGCAGCAGCAGCAGCAlternative Allele: AAGCAGCAGCAGCAGCAGC,A,AAGCAGCAGCAGCAGCAGCAGC,AAGCAGCAGC
Primary Allele: AAGCAGCAGCAGCAGCSecondary Allele: AAGCAGCAGCAGCAGCAGC

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGTCCTCGCGCTCGACGCCGCGTACCCGCTGCCCCTCCTCCCCGGCATGCTCGAGAAGTTCCCCAAGACCGTCGAGCCGACCCGGTGGTGGCCGAAGAAG[AAGCAGCAGCAGCAGC/AAGCAGCAGCAGCAGCAGC,A,AAGCAGCAGCAGCAGCAGCAGC,AAGCAGCAGC]
AGCAGCAGCGCGCTGCGGTGAACAAGTCGAACAGCTTCGGCAGCAGCAGCCGCCGCCGCGGCGCACGCGGCAACGGCTGGACGCCGGAGCTGGAGGAGGA

Reverse complement sequence

TCCTCCTCCAGCTCCGGCGTCCAGCCGTTGCCGCGTGCGCCGCGGCGGCGGCTGCTGCTGCCGAAGCTGTTCGACTTGTTCACCGCAGCGCGCTGCTGCT[GCTGCTGCTGCTGCTT/GCTGCTGCTGCTGCTGCTT,T,GCTGCTGCTGCTGCTGCTGCTT,GCTGCTGCTT]
CTTCTTCGGCCACCACCGGGTCGGCTCGACGGTCTTGGGGAACTTCTCGAGCATGCCGGGGAGGAGGGGCAGCGGGTACGCGGCGTCGAGCGCGAGGACC

Allele Frequencies:

Populations Population SizeFrequency of AAGCAGCAGCAGCAGC(primary allele) Frequency of AAGCAGCAGCAGCAGCAGC(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 62.50% 32.20% 0.74% 0.00% A: 4.23%; AAGCAGCAGCAGCAGCAGCAGC: 0.19%; AAGCAGCAGC: 0.04%
All Indica  2759 72.80% 22.80% 0.47% 0.00% A: 3.91%
All Japonica  1512 42.20% 55.60% 1.26% 0.00% AAGCAGCAGCAGCAGCAGCAGC: 0.60%; A: 0.26%; AAGCAGCAGC: 0.07%
Aus  269 66.90% 2.20% 0.00% 0.00% A: 30.86%
Indica I  595 59.80% 27.70% 0.00% 0.00% A: 12.44%
Indica II  465 87.70% 11.20% 1.08% 0.00% NA
Indica III  913 73.80% 25.30% 0.33% 0.00% A: 0.55%
Indica Intermediate  786 72.60% 23.00% 0.64% 0.00% A: 3.69%
Temperate Japonica  767 69.00% 28.70% 1.69% 0.00% A: 0.52%; AAGCAGCAGCAGCAGCAGCAGC: 0.13%
Tropical Japonica  504 11.50% 87.50% 0.40% 0.00% AAGCAGCAGCAGCAGCAGCAGC: 0.40%; AAGCAGCAGC: 0.20%
Japonica Intermediate  241 21.20% 74.70% 1.66% 0.00% AAGCAGCAGCAGCAGCAGCAGC: 2.49%
VI/Aromatic  96 74.00% 24.00% 1.04% 0.00% AAGCAGCAGC: 1.04%
Intermediate  90 64.40% 27.80% 2.22% 0.00% A: 5.56%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0207063677 AAGCAGCAGCAGCAGC -> AAGCAGCAGCAGCAGCAGC LOC_Os02g13260.1 disruptive_inframe_insertion ; p.Gln246dup; MODERATE inframe_variant Average:84.844; most accessible tissue: Zhenshan97 flower, score: 92.936 N N N N
vg0207063677 AAGCAGCAGCAGCAGC -> AAGCAGCAGCAGCAGCAGCAGC LOC_Os02g13260.1 disruptive_inframe_insertion ; p.Gln245_Gln246dup; MODERATE inframe_variant Average:84.844; most accessible tissue: Zhenshan97 flower, score: 92.936 N N N N
vg0207063677 AAGCAGCAGCAGCAGC -> AAGCAGCAGC LOC_Os02g13260.1 disruptive_inframe_deletion ; p.Gln245_Gln246del; MODERATE inframe_variant Average:84.844; most accessible tissue: Zhenshan97 flower, score: 92.936 N N N N
vg0207063677 AAGCAGCAGCAGCAGC -> A LOC_Os02g13260.1 disruptive_inframe_deletion ; p.Gln242_Gln246del; MODERATE inframe_variant Average:84.844; most accessible tissue: Zhenshan97 flower, score: 92.936 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)
vg0207063677 AAGCA* A -0.04 -0.33 -0.42 -0.04 -0.14 -0.13
vg0207063677 AAGCA* AAGCA* 0.1 -0.1 -0.15 0.0 0.01 -0.02