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Detailed information for vg1109411224:

Variant ID: vg1109411224 (JBrowse)Variation Type: INDEL
Chromosome: chr11Position: 9411224
Reference Allele: CGAGGAGAlternative Allele: CGAGGAGGAG,C
Primary Allele: CGAGGAGSecondary Allele: CGAGGAGGAG

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGAGGACCCTGGCCTGCTCGGCCACCGGAGCGGCCATGTTGGCCCGGAGGCTCTTGTGGTCGATGCCGTCGCAGAAGGAGCCCGTCGTCGGCGACGACGG[CGAGGAG/CGAGGAGGAG,C]
GAGGAGGAGGAGGAGGTGATGAGGCCTCGGCATGGCTCCGGCGACGACGAGGCGAGCTCGCGGATCTCTGCGAGCTTCTGCCTGAGCTCATGGAGAGCTT

Reverse complement sequence

AAGCTCTCCATGAGCTCAGGCAGAAGCTCGCAGAGATCCGCGAGCTCGCCTCGTCGTCGCCGGAGCCATGCCGAGGCCTCATCACCTCCTCCTCCTCCTC[CTCCTCG/CTCCTCCTCG,G]
CCGTCGTCGCCGACGACGGGCTCCTTCTGCGACGGCATCGACCACAAGAGCCTCCGGGCCAACATGGCCGCTCCGGTGGCCGAGCAGGCCAGGGTCCTCG

Allele Frequencies:

Populations Population SizeFrequency of CGAGGAG(primary allele) Frequency of CGAGGAGGAG(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 96.90% 2.10% 0.34% 0.61% C: 0.02%
All Indica  2759 99.30% 0.00% 0.11% 0.58% C: 0.04%
All Japonica  1512 92.10% 6.50% 0.79% 0.53% NA
Aus  269 99.60% 0.00% 0.00% 0.37% NA
Indica I  595 97.00% 0.00% 0.34% 2.69% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 100.00% 0.00% 0.00% 0.00% NA
Indica Intermediate  786 99.70% 0.00% 0.13% 0.00% C: 0.13%
Temperate Japonica  767 97.80% 2.00% 0.26% 0.00% NA
Tropical Japonica  504 81.90% 14.70% 1.79% 1.59% NA
Japonica Intermediate  241 95.40% 4.10% 0.41% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 94.40% 0.00% 1.11% 4.44% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1109411224 CGAGGAG -> CGAGGAGGAG LOC_Os11g16970.1 inframe_insertion ; p.Ser66dup; MODERATE inframe_variant Average:81.894; most accessible tissue: Zhenshan97 young leaf, score: 92.356 N N N N
vg1109411224 CGAGGAG -> DEL LOC_Os11g16970.1 N frameshift_variant Average:81.894; most accessible tissue: Zhenshan97 young leaf, score: 92.356 N N N N
vg1109411224 CGAGGAG -> C LOC_Os11g16970.1 disruptive_inframe_deletion ; p.Ser67_Ser68del; MODERATE inframe_variant Average:81.894; most accessible tissue: Zhenshan97 young leaf, score: 92.356 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)
vg1109411224 CGAGG* C 0.26 -0.05 -0.07 -0.05 -0.06 -0.06
vg1109411224 CGAGG* CGAGG* 0.1 0.12 0.08 -0.01 0.02 0.02