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Detailed information for vg1100642947:

Variant ID: vg1100642947 (JBrowse)Variation Type: INDEL
Chromosome: chr11Position: 642947
Reference Allele: TCGCAlternative Allele: T
Primary Allele: TCGCSecondary Allele: T

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AGGATGCTGCCGGGGTGCGCGCACGCGTTTCACAAGGATTGCGTCGTCAAGTGGCTGCGCAACCGCACAACATGCCCGCTCTGCCGTTCTGACGTCGCCG[TCGC/T]
CGCCGCCGCCGCCGCAGATAACATGGTCTGACGCTATCTCAGATTTCACTAACTATCTCTCACCTCCGTCTTAAAATAAATTAACCTAGAAACAGTAGAA

Reverse complement sequence

TTCTACTGTTTCTAGGTTAATTTATTTTAAGACGGAGGTGAGAGATAGTTAGTGAAATCTGAGATAGCGTCAGACCATGTTATCTGCGGCGGCGGCGGCG[GCGA/A]
CGGCGACGTCAGAACGGCAGAGCGGGCATGTTGTGCGGTTGCGCAGCCACTTGACGACGCAATCCTTGTGAAACGCGTGCGCGCACCCCGGCAGCATCCT

Allele Frequencies:

Populations Population SizeFrequency of TCGC(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 78.20% 0.10% 14.85% 6.86% NA
All Indica  2759 69.20% 0.10% 19.46% 11.31% NA
All Japonica  1512 99.80% 0.00% 0.13% 0.07% NA
Aus  269 40.10% 0.40% 55.76% 3.72% NA
Indica I  595 68.90% 0.20% 12.61% 18.32% NA
Indica II  465 92.00% 0.00% 6.02% 1.94% NA
Indica III  913 55.00% 0.00% 35.05% 9.97% NA
Indica Intermediate  786 72.30% 0.10% 14.50% 13.10% NA
Temperate Japonica  767 99.90% 0.00% 0.00% 0.13% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 99.20% 0.00% 0.83% 0.00% NA
VI/Aromatic  96 94.80% 0.00% 4.17% 1.04% NA
Intermediate  90 88.90% 1.10% 10.00% 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
vg1100642947 TCGC -> T LOC_Os11g02260.1 disruptive_inframe_deletion ; p.Ala130del; MODERATE inframe_variant Average:90.212; most accessible tissue: Minghui63 young leaf, score: 99.423 N N N N
vg1100642947 TCGC -> DEL LOC_Os11g02260.1 N frameshift_variant Average:90.212; most accessible tissue: Minghui63 young leaf, score: 99.423 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)
vg1100642947 TCGC T 0.34 0.47 0.6 0.07 0.41 0.34