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Detailed information for vg0527222863:

Variant ID: vg0527222863 (JBrowse)Variation Type: INDEL
Chromosome: chr05Position: 27222863
Reference Allele: CAlternative Allele: CAT
Primary Allele: CSecondary Allele: CAT

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 286. )

Flanking Sequence (100 bp) in Reference Genome:


TGATAGTGTCCCTGCTCTGGCTGACGACGATGTCACGGCAATAGTACGGGCAGCGGTTGAGGAACAATGGCCAGTTGACCCTAGCGGGCAATGGCAGCGG[C/CAT]
ATGTCGCGGAGCTTGGGGCTGTCTTCGAGCACGTCGCAGAGAAGGATGCCTCGCCAGAGATCGACCCAGCCAACTGTGCCTTTGGCACCTCCGAGCGTGA

Reverse complement sequence

TCACGCTCGGAGGTGCCAAAGGCACAGTTGGCTGGGTCGATCTCTGGCGAGGCATCCTTCTCTGCGACGTGCTCGAAGACAGCCCCAAGCTCCGCGACAT[G/ATG]
CCGCTGCCATTGCCCGCTAGGGTCAACTGGCCATTGTTCCTCAACCGCTGCCCGTACTATTGCCGTGACATCGTCGTCAGCCAGAGCAGGGACACTATCA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of CAT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 89.10% 10.70% 0.13% 0.08% NA
All Indica  2759 92.80% 6.90% 0.14% 0.14% NA
All Japonica  1512 80.60% 19.40% 0.00% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 99.00% 0.80% 0.00% 0.17% NA
Indica II  465 69.20% 29.70% 0.65% 0.43% NA
Indica III  913 99.80% 0.20% 0.00% 0.00% NA
Indica Intermediate  786 93.90% 5.90% 0.13% 0.13% NA
Temperate Japonica  767 99.10% 0.90% 0.00% 0.00% NA
Tropical Japonica  504 57.30% 42.70% 0.00% 0.00% NA
Japonica Intermediate  241 70.50% 29.50% 0.00% 0.00% NA
VI/Aromatic  96 93.80% 6.20% 0.00% 0.00% NA
Intermediate  90 81.10% 16.70% 2.22% 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
vg0527222863 C -> DEL LOC_Os05g47520.1 N frameshift_variant Average:87.38; most accessible tissue: Minghui63 flag leaf, score: 93.138 N N N N
vg0527222863 C -> CAT LOC_Os05g47520.1 frameshift_variant ; p.Met223fs; HIGH frameshift_variant Average:87.38; most accessible tissue: Minghui63 flag leaf, score: 93.138 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)
vg0527222863 C CAT -0.17 -0.15 -0.13 -0.1 -0.12 -0.16