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Detailed information for vg0825017270:

Variant ID: vg0825017270 (JBrowse)Variation Type: INDEL
Chromosome: chr08Position: 25017270
Reference Allele: CGAGAlternative Allele: C
Primary Allele: CGAGSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TCCGACAGCGCCGCCCGGATCGCCAGCAGCGCGTCCCGGTCGCCCGCGGAGCACGCGGCGGCGGAGGCGGACGCGACCACGGCGAGCGCCGCGAGCGCGG[CGAG/C]
GAGGAGCGGCGGCGCGGCGGGGCTTGGAGCGGGAGATGATGCCATCGTCTCGTCTCGGCTCGCGTGGGCACTGCACTGCAGAGTGAGAGTGGTGAGCTCG

Reverse complement sequence

CGAGCTCACCACTCTCACTCTGCAGTGCAGTGCCCACGCGAGCCGAGACGAGACGATGGCATCATCTCCCGCTCCAAGCCCCGCCGCGCCGCCGCTCCTC[CTCG/G]
CCGCGCTCGCGGCGCTCGCCGTGGTCGCGTCCGCCTCCGCCGCCGCGTGCTCCGCGGGCGACCGGGACGCGCTGCTGGCGATCCGGGCGGCGCTGTCGGA

Allele Frequencies:

Populations Population SizeFrequency of CGAG(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 89.90% 10.00% 0.15% 0.00% NA
All Indica  2759 83.00% 16.70% 0.25% 0.00% NA
All Japonica  1512 99.90% 0.10% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 68.90% 31.10% 0.00% 0.00% NA
Indica II  465 92.50% 7.10% 0.43% 0.00% NA
Indica III  913 84.30% 15.30% 0.33% 0.00% NA
Indica Intermediate  786 86.50% 13.20% 0.25% 0.00% NA
Temperate Japonica  767 99.70% 0.30% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 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
vg0825017270 CGAG -> C LOC_Os08g39550.1 inframe_deletion ; p.Leu16del; MODERATE inframe_variant Average:96.233; most accessible tissue: Zhenshan97 panicle, score: 98.676 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)
vg0825017270 CGAG C 0.04 -0.2 -0.34 0.04 -0.04 -0.08