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Detailed information for vg0825062931:

Variant ID: vg0825062931 (JBrowse)Variation Type: INDEL
Chromosome: chr08Position: 25062931
Reference Allele: ACTACTCAlternative Allele: A
Primary Allele: ACTACTCSecondary Allele: A

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ACGCCGAGCTGCGCCCCCGCATGCGCGCCGTCGCCGAGAGCCTCGACCGGATCAACGCCTAATCCGGCCATCTCTCCACCATCCTAATCGAGCTCAAAAC[ACTACTC/A]
CTACAAGCTAAAGCCTGTGTCACTTGCAGTAACCACCATTAGCTTACAAGAACTTCAAATTCTGTAGATTATTACTGTTAATCGCCGCCAATGCGAGGTT

Reverse complement sequence

AACCTCGCATTGGCGGCGATTAACAGTAATAATCTACAGAATTTGAAGTTCTTGTAAGCTAATGGTGGTTACTGCAAGTGACACAGGCTTTAGCTTGTAG[GAGTAGT/T]
GTTTTGAGCTCGATTAGGATGGTGGAGAGATGGCCGGATTAGGCGTTGATCCGGTCGAGGCTCTCGGCGACGGCGCGCATGCGGGGGCGCAGCTCGGCGT

Allele Frequencies:

Populations Population SizeFrequency of ACTACTC(primary allele) Frequency of A(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 79.70% 0.10% 16.55% 3.62% NA
All Indica  2759 67.20% 0.10% 26.50% 6.16% NA
All Japonica  1512 99.80% 0.10% 0.13% 0.00% NA
Aus  269 84.80% 0.00% 15.24% 0.00% NA
Indica I  595 73.90% 0.30% 21.34% 4.37% NA
Indica II  465 80.90% 0.00% 15.91% 3.23% NA
Indica III  913 52.00% 0.00% 39.43% 8.54% NA
Indica Intermediate  786 71.80% 0.10% 21.63% 6.49% NA
Temperate Japonica  767 99.90% 0.00% 0.13% 0.00% NA
Tropical Japonica  504 99.80% 0.20% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.00% 0.41% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 86.70% 3.30% 8.89% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0825062931 ACTACTC -> A LOC_Os08g39590.1 3_prime_UTR_variant ; 44.0bp to feature; MODIFIER silent_mutation Average:91.227; most accessible tissue: Zhenshan97 panicle, score: 99.005 N N N N
vg0825062931 ACTACTC -> A LOC_Os08g39600.1 downstream_gene_variant ; 1708.0bp to feature; MODIFIER silent_mutation Average:91.227; most accessible tissue: Zhenshan97 panicle, score: 99.005 N N N N
vg0825062931 ACTACTC -> A LOC_Os08g39610.1 downstream_gene_variant ; 4938.0bp to feature; MODIFIER silent_mutation Average:91.227; most accessible tissue: Zhenshan97 panicle, score: 99.005 N N N N
vg0825062931 ACTACTC -> DEL N N silent_mutation Average:91.227; most accessible tissue: Zhenshan97 panicle, score: 99.005 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)
vg0825062931 ACTAC* A -0.07 0.15 0.12 0.09 0.19 0.24