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Detailed information for vg0104646629:

Variant ID: vg0104646629 (JBrowse)Variation Type: INDEL
Chromosome: chr01Position: 4646629
Reference Allele: CAlternative Allele: CGGCGGCGGT
Primary Allele: CSecondary Allele: CGGCGGCGGT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATCTCGTTTTAGATGAGCTCACTGACGGCGGCGCAGTTCCGGTCGCTGTTTGAGATGGCAGGAGGGGAGGATATCTCGTTTCTGTTTGGTGATGATGAGG[C/CGGCGGCGGT]
GGCGGCGGTGGCGGCGCCGGTGGAGTTGCAGGGGAAGAGGGGGTGGGAGGAGGTGGATCAAGGGGAGGGGTCTGGGGCGGTGGCGGCGAAGAGGCAGCGG

Reverse complement sequence

CCGCTGCCTCTTCGCCGCCACCGCCCCAGACCCCTCCCCTTGATCCACCTCCTCCCACCCCCTCTTCCCCTGCAACTCCACCGGCGCCGCCACCGCCGCC[G/ACCGCCGCCG]
CCTCATCATCACCAAACAGAAACGAGATATCCTCCCCTCCTGCCATCTCAAACAGCGACCGGAACTGCGCCGCCGTCAGTGAGCTCATCTAAAACGAGAT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of CGGCGGCGGT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 72.40% 26.20% 1.38% 0.00% NA
All Indica  2759 98.80% 1.10% 0.11% 0.00% NA
All Japonica  1512 20.00% 76.00% 3.97% 0.00% NA
Aus  269 99.60% 0.40% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 97.40% 2.40% 0.22% 0.00% NA
Indica III  913 98.70% 1.20% 0.11% 0.00% NA
Indica Intermediate  786 98.70% 1.10% 0.13% 0.00% NA
Temperate Japonica  767 25.70% 69.00% 5.35% 0.00% NA
Tropical Japonica  504 13.10% 84.10% 2.78% 0.00% NA
Japonica Intermediate  241 16.60% 81.30% 2.07% 0.00% NA
VI/Aromatic  96 64.60% 35.40% 0.00% 0.00% NA
Intermediate  90 72.20% 25.60% 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
vg0104646629 C -> CGGCGGCGGT LOC_Os01g09220.1 inframe_insertion ; p.Val33_Ala35dup; MODERATE inframe_variant Average:98.254; most accessible tissue: Zhenshan97 flag leaf, score: 99.949 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)
vg0104646629 C CGGCG* 0.02 -0.03 -0.01 -0.03 -0.04 0.0