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Detailed information for vg0301153013:

Variant ID: vg0301153013 (JBrowse)Variation Type: INDEL
Chromosome: chr03Position: 1153013
Reference Allele: GCAAlternative Allele: GCACACA,GCACA,GCACACACA,G,GCACACACACACA
Primary Allele: GCACACASecondary Allele: GCA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATCTAGCTCTAGCCCCTCTCTTGTTCAAACACCTTCATCTGAATCTCTTGAGCCTGAATTTTCCCAACACAAGCAAGCACTACAATTGAGCTAAGCTATA[GCA/GCACACA,GCACA,GCACACACA,G,GCACACACACACA]
CACACACACACACACAAACCCTGAATTCCCACTTCCTAAGTTCCTATAGCTAAGCATATAGTAGCCACAAGGAGCTAGCTAATTCTTATTAGCTATAGCT

Reverse complement sequence

AGCTATAGCTAATAAGAATTAGCTAGCTCCTTGTGGCTACTATATGCTTAGCTATAGGAACTTAGGAAGTGGGAATTCAGGGTTTGTGTGTGTGTGTGTG[TGC/TGTGTGC,TGTGC,TGTGTGTGC,C,TGTGTGTGTGTGC]
TATAGCTTAGCTCAATTGTAGTGCTTGCTTGTGTTGGGAAAATTCAGGCTCAAGAGATTCAGATGAAGGTGTTTGAACAAGAGAGGGGCTAGAGCTAGAT

Allele Frequencies:

Populations Population SizeFrequency of GCACACA(primary allele) Frequency of GCA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 54.30% 33.20% 1.46% 0.00% GCACACACA: 7.87%; GCACA: 2.81%; G: 0.28%; GCACACACACACA: 0.04%
All Indica  2759 82.80% 4.60% 0.76% 0.00% GCACACACA: 11.34%; GCACA: 0.43%
All Japonica  1512 0.70% 89.20% 2.12% 0.00% GCACA: 7.21%; G: 0.66%; GCACACACA: 0.13%
Aus  269 65.80% 13.40% 2.97% 0.00% GCACACACA: 15.99%; GCACA: 1.12%; GCACACACACACA: 0.74%
Indica I  595 91.30% 7.70% 0.67% 0.00% GCACACACA: 0.17%; GCACA: 0.17%
Indica II  465 58.50% 6.50% 0.65% 0.00% GCACACACA: 33.33%; GCACA: 1.08%
Indica III  913 93.90% 0.90% 0.55% 0.00% GCACACACA: 4.60%; GCACA: 0.11%
Indica Intermediate  786 78.00% 5.60% 1.15% 0.00% GCACACACA: 14.63%; GCACA: 0.64%
Temperate Japonica  767 0.40% 98.30% 0.78% 0.00% G: 0.26%; GCACA: 0.26%
Tropical Japonica  504 1.00% 76.20% 3.57% 0.00% GCACA: 17.86%; G: 1.39%
Japonica Intermediate  241 1.20% 87.10% 3.32% 0.00% GCACA: 7.05%; GCACACACA: 0.83%; G: 0.41%
VI/Aromatic  96 56.20% 31.20% 3.12% 0.00% GCACACACA: 9.38%
Intermediate  90 43.30% 32.20% 5.56% 0.00% GCACA: 10.00%; GCACACACA: 5.56%; G: 3.33%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0301153013 GCA -> GCACA LOC_Os03g02900.1 5_prime_UTR_variant ; 349.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0301153013 GCA -> GCACACA LOC_Os03g02900.1 5_prime_UTR_variant ; 349.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0301153013 GCA -> GCACACACACACA LOC_Os03g02900.1 5_prime_UTR_variant ; 349.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0301153013 GCA -> GCACACACA LOC_Os03g02900.1 5_prime_UTR_variant ; 349.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0301153013 GCA -> G LOC_Os03g02900.1 5_prime_UTR_variant ; 350.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 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)
vg0301153013 GCA G 0.0 -0.07 0.02 0.11 0.07 0.15
vg0301153013 GCA GCACA -0.01 -0.07 0.0 0.01 -0.03 -0.01
vg0301153013 GCA GCACA* 0.09 0.12 0.21 0.05 0.01 -0.05