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Detailed information for vg1227477222:

Variant ID: vg1227477222 (JBrowse)Variation Type: INDEL
Chromosome: chr12Position: 27477222
Reference Allele: TAlternative Allele: TGA,TGATAG
Primary Allele: TGASecondary Allele: T

Inferred Ancestral Allele : TGA (evidence from allele frequency in Oryza rufipogon: TGA: 1.01, others allele: 0.00, population size: 204. )

Flanking Sequence (100 bp) in Reference Genome:


CACGTCGTGCGTGTCGGCGCAGCAGCTGTCGGGCCCCAGATGACATGACACACACATTTACTACTGTTTTTTCTTTTTCTTGTGTGAATACTACTGTAGA[T/TGA,TGATAG]
TATACAGAATATTTTCCATGTTGAGCTGCTATTGTTGCAGGCAAATCGCTGCATATGATTGATCGCTAGCTAACAGCCAAGCCAACTGACTTCATTTTGT

Reverse complement sequence

ACAAAATGAAGTCAGTTGGCTTGGCTGTTAGCTAGCGATCAATCATATGCAGCGATTTGCCTGCAACAATAGCAGCTCAACATGGAAAATATTCTGTATA[A/TCA,CTATCA]
TCTACAGTAGTATTCACACAAGAAAAAGAAAAAACAGTAGTAAATGTGTGTGTCATGTCATCTGGGGCCCGACAGCTGCTGCGCCGACACGCACGACGTG

Allele Frequencies:

Populations Population SizeFrequency of TGA(primary allele) Frequency of T(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 64.30% 35.60% 0.08% 0.02% TGATAG: 0.06%
All Indica  2759 97.50% 2.20% 0.14% 0.04% TGATAG: 0.11%
All Japonica  1512 0.80% 99.20% 0.00% 0.00% NA
Aus  269 98.90% 1.10% 0.00% 0.00% NA
Indica I  595 97.60% 2.20% 0.17% 0.00% NA
Indica II  465 97.80% 1.70% 0.00% 0.00% TGATAG: 0.43%
Indica III  913 98.00% 2.00% 0.00% 0.00% NA
Indica Intermediate  786 96.60% 2.80% 0.38% 0.13% TGATAG: 0.13%
Temperate Japonica  767 0.40% 99.60% 0.00% 0.00% NA
Tropical Japonica  504 0.80% 99.20% 0.00% 0.00% NA
Japonica Intermediate  241 2.10% 97.90% 0.00% 0.00% NA
VI/Aromatic  96 18.80% 81.20% 0.00% 0.00% NA
Intermediate  90 56.70% 43.30% 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
vg1227477222 T -> TGATAG LOC_Os12g44320.1 3_prime_UTR_variant ; 59.0bp to feature; MODIFIER silent_mutation Average:96.669; most accessible tissue: Zhenshan97 root, score: 99.146 N N N N
vg1227477222 T -> TGATAG LOC_Os12g44330.1 downstream_gene_variant ; 2893.0bp to feature; MODIFIER silent_mutation Average:96.669; most accessible tissue: Zhenshan97 root, score: 99.146 N N N N
vg1227477222 T -> TGATAG LOC_Os12g44330.2 downstream_gene_variant ; 4046.0bp to feature; MODIFIER silent_mutation Average:96.669; most accessible tissue: Zhenshan97 root, score: 99.146 N N N N
vg1227477222 T -> TGA LOC_Os12g44320.1 3_prime_UTR_variant ; 59.0bp to feature; MODIFIER silent_mutation Average:96.669; most accessible tissue: Zhenshan97 root, score: 99.146 N N N N
vg1227477222 T -> TGA LOC_Os12g44330.1 downstream_gene_variant ; 2893.0bp to feature; MODIFIER silent_mutation Average:96.669; most accessible tissue: Zhenshan97 root, score: 99.146 N N N N
vg1227477222 T -> TGA LOC_Os12g44330.2 downstream_gene_variant ; 4046.0bp to feature; MODIFIER silent_mutation Average:96.669; most accessible tissue: Zhenshan97 root, score: 99.146 N N N N
vg1227477222 T -> DEL N N silent_mutation Average:96.669; most accessible tissue: Zhenshan97 root, score: 99.146 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)
vg1227477222 T TGA -0.18 0.01 0.08 -0.07 -0.03 -0.03
vg1227477222 T TGATA* -0.24 -0.18 0.01 -0.21 -0.15 -0.1