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Detailed information for vg0135185742:

Variant ID: vg0135185742 (JBrowse)Variation Type: INDEL
Chromosome: chr01Position: 35185742
Reference Allele: GAAlternative Allele: G
Primary Allele: GSecondary Allele: GA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GACTGAAGCTCGTATGCACAGTTGATCAAACACTCACCATTATCTCTCGGAGCAAAGAATCTTGACAGCCTAAAAAAGACTCTGTACAGCAAGAAGGGGG[GA/G]
AAAATTATGTTTCTGAACTTATCCTACGAGGCAAGTTGTGATTGGTTTTCACGAAGCCATCATGGCAGGGGGCACCACGGTGGCAACGGGGCAACCGCCG

Reverse complement sequence

CGGCGGTTGCCCCGTTGCCACCGTGGTGCCCCCTGCCATGATGGCTTCGTGAAAACCAATCACAACTTGCCTCGTAGGATAAGTTCAGAAACATAATTTT[TC/C]
CCCCCTTCTTGCTGTACAGAGTCTTTTTTAGGCTGTCAAGATTCTTTGCTCCGAGAGATAATGGTGAGTGTTTGATCAACTGTGCATACGAGCTTCAGTC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of GA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 74.90% 24.70% 0.08% 0.36% NA
All Indica  2759 95.40% 3.80% 0.11% 0.62% NA
All Japonica  1512 37.20% 62.80% 0.00% 0.00% NA
Aus  269 69.10% 30.90% 0.00% 0.00% NA
Indica I  595 92.80% 7.10% 0.17% 0.00% NA
Indica II  465 100.00% 0.00% 0.00% 0.00% NA
Indica III  913 96.60% 1.40% 0.11% 1.86% NA
Indica Intermediate  786 93.40% 6.50% 0.13% 0.00% NA
Temperate Japonica  767 5.30% 94.70% 0.00% 0.00% NA
Tropical Japonica  504 83.30% 16.70% 0.00% 0.00% NA
Japonica Intermediate  241 41.90% 58.10% 0.00% 0.00% NA
VI/Aromatic  96 94.80% 5.20% 0.00% 0.00% NA
Intermediate  90 74.40% 24.40% 1.11% 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
vg0135185742 GA -> G LOC_Os01g60860.1 3_prime_UTR_variant ; 49.0bp to feature; MODIFIER silent_mutation Average:98.416; most accessible tissue: Minghui63 flower, score: 99.417 N N N N
vg0135185742 GA -> DEL N N silent_mutation Average:98.416; most accessible tissue: Minghui63 flower, score: 99.417 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)
vg0135185742 GA G 0.1 0.1 0.03 0.06 0.07 0.07