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Detailed information for vg0301457522:

Variant ID: vg0301457522 (JBrowse)Variation Type: INDEL
Chromosome: chr03Position: 1457522
Reference Allele: GCTCTCTCTCTCTCTCTCTCTAlternative Allele: GCT,GCTCTCTCT,GCTCTCTCTCTCTCTCTCTCTCT,GCTCTCTCTCTCTCTCTCT,G,GCTCTCT
Primary Allele: GCTSecondary Allele: GCTCTCTCT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ACTCAAAAGTTACCCAGAACGCTCCCCACGCCGCTCTCTCGTCGTCAAGTCGCATGCCTATGTAAAGCAGAGCGACCAAAGAATCCAAGGAGGCCAAAGC[GCTCTCTCTCTCTCTCTCTCT/GCT,GCTCTCTCT,GCTCTCTCTCTCTCTCTCTCTCT,GCTCTCTCTCTCTCTCTCT,G,GCTCTCT]
CTCTCTCTCTCTGCTTCATCAGCTCCCCGTGGCGGCGATGGCGGCTCAGAGGAGGCTGCTCGCCGAGGCACCTCCGCACCAGCCGCACCCCTCGCGGCAC

Reverse complement sequence

GTGCCGCGAGGGGTGCGGCTGGTGCGGAGGTGCCTCGGCGAGCAGCCTCCTCTGAGCCGCCATCGCCGCCACGGGGAGCTGATGAAGCAGAGAGAGAGAG[AGAGAGAGAGAGAGAGAGAGC/AGC,AGAGAGAGC,AGAGAGAGAGAGAGAGAGAGAGC,AGAGAGAGAGAGAGAGAGC,C,AGAGAGC]
GCTTTGGCCTCCTTGGATTCTTTGGTCGCTCTGCTTTACATAGGCATGCGACTTGACGACGAGAGAGCGGCGTGGGGAGCGTTCTGGGTAACTTTTGAGT

Allele Frequencies:

Populations Population SizeFrequency of GCT(primary allele) Frequency of GCTCTCTCT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 61.20% 12.10% 5.80% 1.38% GCTCTCTCTCTCTCTCTCTCT: 11.07%; GCTCTCT: 8.15%; GCTCTCTCTCTCTCTCTCTCTCT: 0.30%; GCTCTCTCTCTCTCTCTCT: 0.04%
All Indica  2759 93.60% 0.80% 0.65% 0.11% GCTCTCTCTCTCTCTCTCTCT: 4.75%; GCTCTCT: 0.07%
All Japonica  1512 0.90% 30.60% 15.48% 4.03% GCTCTCT: 24.60%; GCTCTCTCTCTCTCTCTCTCT: 23.48%; GCTCTCTCTCTCTCTCTCTCTCT: 0.93%; GCTCTCTCTCTCTCTCTCT: 0.07%
Aus  269 75.50% 14.90% 0.74% 0.00% GCTCTCTCTCTCTCTCTCTCT: 6.69%; GCTCTCT: 2.23%
Indica I  595 90.60% 1.30% 0.84% 0.00% GCTCTCTCTCTCTCTCTCTCT: 7.23%
Indica II  465 90.10% 0.60% 2.15% 0.43% GCTCTCTCTCTCTCTCTCTCT: 6.67%
Indica III  913 98.60% 0.10% 0.11% 0.00% GCTCTCTCTCTCTCTCTCTCT: 1.20%
Indica Intermediate  786 92.20% 1.30% 0.25% 0.13% GCTCTCTCTCTCTCTCTCTCT: 5.85%; GCTCTCT: 0.25%
Temperate Japonica  767 0.40% 26.10% 20.08% 6.26% GCTCTCTCTCTCTCTCTCTCT: 32.20%; GCTCTCT: 14.99%
Tropical Japonica  504 1.00% 30.40% 10.32% 0.99% GCTCTCT: 46.23%; GCTCTCTCTCTCTCTCTCTCT: 8.53%; GCTCTCTCTCTCTCTCTCTCTCT: 2.58%
Japonica Intermediate  241 2.10% 45.20% 11.62% 3.32% GCTCTCTCTCTCTCTCTCTCT: 26.97%; GCTCTCT: 9.96%; GCTCTCTCTCTCTCTCTCT: 0.41%; GCTCTCTCTCTCTCTCTCTCTCT: 0.41%
VI/Aromatic  96 46.90% 42.70% 4.17% 0.00% GCTCTCTCTCTCTCTCTCTCT: 6.25%
Intermediate  90 51.10% 8.90% 17.78% 1.11% GCTCTCTCTCTCTCTCTCTCT: 14.44%; GCTCTCT: 5.56%; GCTCTCTCTCTCTCTCTCT: 1.11%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0301457522 GCTCTCTCTCTCTCTCTCTCT -> GCTCTCTCTCTCTCTCTCTCTCT LOC_Os03g03410.1 5_prime_UTR_variant ; 25.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0301457522 GCTCTCTCTCTCTCTCTCTCT -> GCTCTCTCT LOC_Os03g03410.1 5_prime_UTR_variant ; 26.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0301457522 GCTCTCTCTCTCTCTCTCTCT -> DEL N N silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0301457522 GCTCTCTCTCTCTCTCTCTCT -> GCTCTCTCTCTCTCTCTCT LOC_Os03g03410.1 5_prime_UTR_variant ; 26.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0301457522 GCTCTCTCTCTCTCTCTCTCT -> G LOC_Os03g03410.1 5_prime_UTR_variant ; 26.0bp to feature; MODIFIER N Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0301457522 GCTCTCTCTCTCTCTCTCTCT -> GCTCTCT LOC_Os03g03410.1 5_prime_UTR_variant ; 26.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0301457522 GCTCTCTCTCTCTCTCTCTCT -> GCT LOC_Os03g03410.1 5_prime_UTR_variant ; 26.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 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)
vg0301457522 GCTCT* G -0.28 -0.09 0.03 -0.16 -0.1 -0.07
vg0301457522 GCTCT* GCT -0.36 -0.29 -0.16 -0.26 -0.18 -0.18
vg0301457522 GCTCT* GCTCT* 0.08 0.28 0.27 0.16 0.15 0.13