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Detailed information for vg0710993702:

Variant ID: vg0710993702 (JBrowse)Variation Type: INDEL
Chromosome: chr07Position: 10993702
Reference Allele: CAlternative Allele: CGCGGCG
Primary Allele: CSecondary Allele: CGCGGCG

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGGTCTCGAGCACGGCGCAGCCGGCGAGCACGCGGTGGAGGGCGTCCTCCGAGATGGCGACGCCGTAGAGGGTGAGCCGCGTCAGCCGCGGGAAACATGG[C/CGCGGCG]
GCGGCGGCGGGGGCGACGGCGGGGAAGTCACAGCCGCCGATGTAGGCCGTGCGGAGCGTCGGCGCGAAGCGGAGCGCGGACGGCGGCAGCGGGCGCGGCG

Reverse complement sequence

CGCCGCGCCCGCTGCCGCCGTCCGCGCTCCGCTTCGCGCCGACGCTCCGCACGGCCTACATCGGCGGCTGTGACTTCCCCGCCGTCGCCCCCGCCGCCGC[G/CGCCGCG]
CCATGTTTCCCGCGGCTGACGCGGCTCACCCTCTACGGCGTCGCCATCTCGGAGGACGCCCTCCACCGCGTGCTCGCCGGCTGCGCCGTGCTCGAGACCC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of CGCGGCG(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 90.80% 9.10% 0.08% 0.00% NA
All Indica  2759 97.90% 2.10% 0.00% 0.00% NA
All Japonica  1512 80.90% 18.80% 0.26% 0.00% NA
Aus  269 95.20% 4.80% 0.00% 0.00% NA
Indica I  595 99.80% 0.20% 0.00% 0.00% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 99.90% 0.10% 0.00% 0.00% NA
Indica Intermediate  786 92.70% 7.30% 0.00% 0.00% NA
Temperate Japonica  767 67.70% 31.80% 0.52% 0.00% NA
Tropical Japonica  504 99.60% 0.40% 0.00% 0.00% NA
Japonica Intermediate  241 83.80% 16.20% 0.00% 0.00% NA
VI/Aromatic  96 26.00% 74.00% 0.00% 0.00% NA
Intermediate  90 95.60% 4.40% 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
vg0710993702 C -> CGCGGCG LOC_Os07g18600.1 disruptive_inframe_insertion ; p.Ala190_Ala191dup; MODERATE inframe_variant Average:79.012; most accessible tissue: Zhenshan97 young leaf, score: 88.995 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)
vg0710993702 C CGCGG* -0.03 -0.06 -0.06 -0.06 -0.08 -0.04