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Detailed information for vg0320572436:

Variant ID: vg0320572436 (JBrowse)Variation Type: INDEL
Chromosome: chr03Position: 20572436
Reference Allele: CAlternative Allele: CCGCG
Primary Allele: CSecondary Allele: CCGCG

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 272. )

Flanking Sequence (100 bp) in Reference Genome:


CCAGTACTCGGCGGACATCGAGCTCTTCCGGCGGATGGCGTTTGCCAACGACCTCTCCACCGCTGAGCTCGGCTACTCCGGCAAGGACGACGTACGCCGT[C/CCGCG]
CGCCACGCTAGCAGCAGCTCCAGGACCAGGCCCAGCTGAGCACTAACGGCACATGCGCTGTTGTTAAATTTGTTGTCGTAACTAACACGCATGCATGTAT

Reverse complement sequence

ATACATGCATGCGTGTTAGTTACGACAACAAATTTAACAACAGCGCATGTGCCGTTAGTGCTCAGCTGGGCCTGGTCCTGGAGCTGCTGCTAGCGTGGCG[G/CGCGG]
ACGGCGTACGTCGTCCTTGCCGGAGTAGCCGAGCTCAGCGGTGGAGAGGTCGTTGGCAAACGCCATCCGCCGGAAGAGCTCGATGTCCGCCGAGTACTGG

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of CCGCG(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 85.00% 15.00% 0.00% 0.00% NA
All Indica  2759 80.60% 19.40% 0.00% 0.00% NA
All Japonica  1512 88.90% 11.10% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 94.30% 5.70% 0.00% 0.00% NA
Indica II  465 77.00% 23.00% 0.00% 0.00% NA
Indica III  913 70.10% 29.90% 0.00% 0.00% NA
Indica Intermediate  786 84.50% 15.50% 0.00% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 69.80% 30.20% 0.00% 0.00% NA
Japonica Intermediate  241 93.40% 6.60% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 92.20% 7.80% 0.00% 0.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0320572436 C -> CCGCG LOC_Os03g37120.1 frameshift_variant ; p.Pro674fs; HIGH frameshift_variant Average:84.116; most accessible tissue: Callus, score: 90.133 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)
vg0320572436 C CCGCG -0.17 -0.16 -0.12 -0.15 -0.18 -0.19