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Detailed information for vg0329517182:

Variant ID: vg0329517182 (JBrowse)Variation Type: INDEL
Chromosome: chr03Position: 29517182
Reference Allele: CGCGGCGGCGAlternative Allele: C,CGCGGCGGCGGCG
Primary Allele: CGCGGCGGCGSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AGCAGTACACGGAGCAGCAGATCGCCGTCGCGTTCGGGCAGGCCGGCGAGGCGGACGCGGCGGCGGCGGCGGCGGCGATGATGGTGCAGCAGCAGCAGTA[CGCGGCGGCG/C,CGCGGCGGCGGCG]
GCGGCGGCGGAGCACCGGCCGCGGAAGGCGGCGAAGGTGAACACCAGCTGGGACTCGTGCATCACGGAGCAGGGCTCCCCGGCGGACTCCTCCTCGCCGA

Reverse complement sequence

TCGGCGAGGAGGAGTCCGCCGGGGAGCCCTGCTCCGTGATGCACGAGTCCCAGCTGGTGTTCACCTTCGCCGCCTTCCGCGGCCGGTGCTCCGCCGCCGC[CGCCGCCGCG/G,CGCCGCCGCCGCG]
TACTGCTGCTGCTGCACCATCATCGCCGCCGCCGCCGCCGCCGCGTCCGCCTCGCCGGCCTGCCCGAACGCGACGGCGATCTGCTGCTCCGTGTACTGCT

Allele Frequencies:

Populations Population SizeFrequency of CGCGGCGGCG(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 94.80% 0.50% 3.24% 1.44% CGCGGCGGCGGCG: 0.04%
All Indica  2759 97.60% 0.80% 0.33% 1.16% CGCGGCGGCGGCG: 0.07%
All Japonica  1512 88.30% 0.00% 9.39% 2.31% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 98.80% 0.00% 0.00% 1.18% NA
Indica II  465 96.30% 0.40% 0.22% 3.01% NA
Indica III  913 97.20% 2.00% 0.44% 0.33% CGCGGCGGCGGCG: 0.11%
Indica Intermediate  786 98.00% 0.40% 0.51% 1.02% CGCGGCGGCGGCG: 0.13%
Temperate Japonica  767 79.30% 0.00% 16.95% 3.78% NA
Tropical Japonica  504 99.20% 0.00% 0.20% 0.60% NA
Japonica Intermediate  241 94.20% 0.00% 4.56% 1.24% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 94.40% 2.20% 2.22% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0329517182 CGCGGCGGCG -> C LOC_Os03g51580.1 disruptive_inframe_deletion ; p.Ala64_Ala66del; MODERATE inframe_variant Average:92.131; most accessible tissue: Zhenshan97 flower, score: 96.516 N N N N
vg0329517182 CGCGGCGGCG -> DEL LOC_Os03g51580.1 N frameshift_variant Average:92.131; most accessible tissue: Zhenshan97 flower, score: 96.516 N N N N
vg0329517182 CGCGGCGGCG -> CGCGGCGGCGGCG LOC_Os03g51580.1 disruptive_inframe_insertion ; p.Ala66dup; MODERATE inframe_variant Average:92.131; most accessible tissue: Zhenshan97 flower, score: 96.516 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)
vg0329517182 CGCGG* C 0.26 0.18 0.04 -0.12 0.05 0.1
vg0329517182 CGCGG* CGCGG* 0.0 0.05 0.04 -0.18 -0.09 -0.04