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Detailed information for vg1213444832:

Variant ID: vg1213444832 (JBrowse)Variation Type: INDEL
Chromosome: chr12Position: 13444832
Reference Allele: GGGCAlternative Allele: G
Primary Allele: GSecondary Allele: GGGC

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCGGCGAGGAGGAGTGGCTCCGGGAGGCGCGGTGCCTGCAGGCGTGCCGCGGCCACCCGCACCTCGTCGAGCTCCGCGCCGCGCACCGGGAGATGAGGAG[GGGC/G]
GGCGGCGGCGCGTGCTGCTACGTCGTGATGGAGTACGTCGACGGGCCGAGCCTGTCGCGCGTGGTGCGGGAGGAGCGGCGCGGGAGGCCGTTCCCGGAGG

Reverse complement sequence

CCTCCGGGAACGGCCTCCCGCGCCGCTCCTCCCGCACCACGCGCGACAGGCTCGGCCCGTCGACGTACTCCATCACGACGTAGCAGCACGCGCCGCCGCC[GCCC/C]
CTCCTCATCTCCCGGTGCGCGGCGCGGAGCTCGACGAGGTGCGGGTGGCCGCGGCACGCCTGCAGGCACCGCGCCTCCCGGAGCCACTCCTCCTCGCCGC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of GGGC(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 84.40% 15.40% 0.21% 0.00% NA
All Indica  2759 98.00% 1.80% 0.18% 0.00% NA
All Japonica  1512 56.70% 43.10% 0.20% 0.00% NA
Aus  269 98.90% 1.10% 0.00% 0.00% NA
Indica I  595 99.00% 1.00% 0.00% 0.00% NA
Indica II  465 96.80% 3.20% 0.00% 0.00% NA
Indica III  913 99.30% 0.70% 0.00% 0.00% NA
Indica Intermediate  786 96.60% 2.80% 0.64% 0.00% NA
Temperate Japonica  767 23.10% 76.70% 0.26% 0.00% NA
Tropical Japonica  504 98.20% 1.60% 0.20% 0.00% NA
Japonica Intermediate  241 76.80% 23.20% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 73.30% 24.40% 2.22% 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
vg1213444832 GGGC -> G LOC_Os12g23700.1 disruptive_inframe_deletion ; p.Gly78del; MODERATE inframe_variant Average:90.969; most accessible tissue: Zhenshan97 root, score: 97.403 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)
vg1213444832 GGGC G -0.12 -0.06 0.04 0.02 -0.03 -0.04