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Detailed information for vg1213096544:

Variant ID: vg1213096544 (JBrowse)Variation Type: INDEL
Chromosome: chr12Position: 13096544
Reference Allele: GCTAlternative Allele: G
Primary Allele: GCTSecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATCACAACCAATCAACCATCGAGCGACCAGCGTGCCATCTCACCGTCGCAGTCAAATATGAACGTCTCGACGGAGTCGATGAGCGTGGCGGCGTCCTCCA[GCT/G]
TGGCCACCGGGACCGCGCCGGCGCCGCCGCCGCCGCCGCCACGACGGGTGTGAGCATGGCTGGGGAGGCGCCGCTGGGTGGTCAGCACGATGGGCGTGCT

Reverse complement sequence

AGCACGCCCATCGTGCTGACCACCCAGCGGCGCCTCCCCAGCCATGCTCACACCCGTCGTGGCGGCGGCGGCGGCGGCGCCGGCGCGGTCCCGGTGGCCA[AGC/C]
TGGAGGACGCCGCCACGCTCATCGACTCCGTCGAGACGTTCATATTTGACTGCGACGGTGAGATGGCACGCTGGTCGCTCGATGGTTGATTGGTTGTGAT

Allele Frequencies:

Populations Population SizeFrequency of GCT(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 92.20% 7.80% 0.00% 0.00% NA
All Indica  2759 96.80% 3.20% 0.00% 0.00% NA
All Japonica  1512 99.70% 0.30% 0.00% 0.00% NA
Aus  269 23.00% 77.00% 0.00% 0.00% NA
Indica I  595 98.80% 1.20% 0.00% 0.00% NA
Indica II  465 98.10% 1.90% 0.00% 0.00% NA
Indica III  913 96.60% 3.40% 0.00% 0.00% NA
Indica Intermediate  786 94.80% 5.20% 0.00% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 98.80% 1.20% 0.00% 0.00% NA
VI/Aromatic  96 37.50% 62.50% 0.00% 0.00% NA
Intermediate  90 88.90% 11.10% 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
vg1213096544 GCT -> G LOC_Os12g23150.1 frameshift_variant ; p.Ser20fs; HIGH frameshift_variant Average:83.521; most accessible tissue: Minghui63 flag leaf, score: 93.838 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)
vg1213096544 GCT G 0.15 0.09 0.08 0.18 0.12 0.11