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Detailed information for vg0428535065:

Variant ID: vg0428535065 (JBrowse)Variation Type: INDEL
Chromosome: chr04Position: 28535065
Reference Allele: AAAGAlternative Allele: AAAGAAG,A
Primary Allele: AAAGSecondary Allele: AAAGAAG

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GAGCTCGGTTGTTGTGTTGAGCACCAAAGCCGATCAACAATCACATGAAAGACAGCAAAAGGGAGAAGAAAGAACACCAAGATGATGATGCAACACCGGG[AAAG/AAAGAAG,A]
AAGAAGAAGAGAGATCAAAACACCTTATACGGAGTAACAGTGAATCAGTGATGGATTATCGCCAATGCCAACCTCTTATTAAAACCCTCGTCGTCTCTAC

Reverse complement sequence

GTAGAGACGACGAGGGTTTTAATAAGAGGTTGGCATTGGCGATAATCCATCACTGATTCACTGTTACTCCGTATAAGGTGTTTTGATCTCTCTTCTTCTT[CTTT/CTTCTTT,T]
CCCGGTGTTGCATCATCATCTTGGTGTTCTTTCTTCTCCCTTTTGCTGTCTTTCATGTGATTGTTGATCGGCTTTGGTGCTCAACACAACAACCGAGCTC

Allele Frequencies:

Populations Population SizeFrequency of AAAG(primary allele) Frequency of AAAGAAG(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 95.60% 4.20% 0.04% 0.00% A: 0.11%
All Indica  2759 95.70% 4.20% 0.07% 0.00% A: 0.04%
All Japonica  1512 99.70% 0.10% 0.00% 0.00% A: 0.13%
Aus  269 71.40% 28.60% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 99.60% 0.40% 0.00% 0.00% NA
Indica III  913 92.90% 6.80% 0.22% 0.00% A: 0.11%
Indica Intermediate  786 93.40% 6.60% 0.00% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 99.40% 0.40% 0.00% 0.00% A: 0.20%
Japonica Intermediate  241 99.60% 0.00% 0.00% 0.00% A: 0.41%
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 93.30% 4.40% 0.00% 0.00% A: 2.22%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0428535065 AAAG -> AAAGAAG LOC_Os04g47990.1 3_prime_UTR_variant ; 186.0bp to feature; MODIFIER silent_mutation Average:79.003; most accessible tissue: Zhenshan97 panicle, score: 94.88 N N N N
vg0428535065 AAAG -> AAAGAAG LOC_Os04g47990.2 3_prime_UTR_variant ; 186.0bp to feature; MODIFIER silent_mutation Average:79.003; most accessible tissue: Zhenshan97 panicle, score: 94.88 N N N N
vg0428535065 AAAG -> A LOC_Os04g47990.1 3_prime_UTR_variant ; 187.0bp to feature; MODIFIER silent_mutation Average:79.003; most accessible tissue: Zhenshan97 panicle, score: 94.88 N N N N
vg0428535065 AAAG -> A LOC_Os04g47990.2 3_prime_UTR_variant ; 187.0bp to feature; MODIFIER silent_mutation Average:79.003; most accessible tissue: Zhenshan97 panicle, score: 94.88 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)
vg0428535065 AAAG A 0.08 -0.01 -0.07 0.07 0.11 0.2
vg0428535065 AAAG AAAGA* -0.08 -0.07 -0.05 -0.03 -0.1 -0.1