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Detailed information for vg0500579650:

Variant ID: vg0500579650 (JBrowse)Variation Type: INDEL
Chromosome: chr05Position: 579650
Reference Allele: ATTTAlternative Allele: ATT,AT,A
Primary Allele: ATTTSecondary Allele: ATT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ACCTATAGTCCTATACTAGTAACACACAAGTCAGACACAATTACACAAATCACAAAATTCCCAACACAGAGATATGACTGATTGATTGGATACTTCAGAA[ATTT/ATT,AT,A]
TTTTTAAAAAAAAAACTAAAGGAAAAAAAAAGGAATAAACATAGCATACATGTCTAGATTCTAATCACCATAGTAAGAAATGCTATATGGAGGAAGGAAG

Reverse complement sequence

CTTCCTTCCTCCATATAGCATTTCTTACTATGGTGATTAGAATCTAGACATGTATGCTATGTTTATTCCTTTTTTTTTCCTTTAGTTTTTTTTTTAAAAA[AAAT/AAT,AT,T]
TTCTGAAGTATCCAATCAATCAGTCATATCTCTGTGTTGGGAATTTTGTGATTTGTGTAATTGTGTCTGACTTGTGTGTTACTAGTATAGGACTATAGGT

Allele Frequencies:

Populations Population SizeFrequency of ATTT(primary allele) Frequency of ATT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 59.40% 9.10% 5.90% 22.05% AT: 3.28%; A: 0.25%
All Indica  2759 50.50% 3.50% 9.21% 36.61% AT: 0.18%
All Japonica  1512 68.70% 19.10% 0.99% 0.66% AT: 9.79%; A: 0.79%
Aus  269 83.60% 14.10% 1.12% 1.12% NA
Indica I  595 36.30% 0.80% 10.42% 52.44% NA
Indica II  465 51.20% 1.10% 7.74% 39.78% AT: 0.22%
Indica III  913 55.50% 7.70% 8.87% 27.71% AT: 0.22%
Indica Intermediate  786 55.00% 2.20% 9.54% 33.08% AT: 0.25%
Temperate Japonica  767 90.00% 7.60% 0.26% 0.52% AT: 1.69%
Tropical Japonica  504 45.00% 28.40% 2.38% 0.20% AT: 21.63%; A: 2.38%
Japonica Intermediate  241 50.20% 36.50% 0.41% 2.07% AT: 10.79%
VI/Aromatic  96 89.60% 0.00% 2.08% 8.33% NA
Intermediate  90 74.40% 5.60% 5.56% 12.22% AT: 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
vg0500579650 ATTT -> DEL N N silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500579650 ATTT -> ATT LOC_Os05g02010.1 downstream_gene_variant ; 2787.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500579650 ATTT -> ATT LOC_Os05g02010.2 downstream_gene_variant ; 2787.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500579650 ATTT -> ATT LOC_Os05g02010.3 downstream_gene_variant ; 2772.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500579650 ATTT -> ATT LOC_Os05g02010.4 downstream_gene_variant ; 2772.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500579650 ATTT -> ATT LOC_Os05g02020.1 intron_variant ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500579650 ATTT -> ATT LOC_Os05g02020.2 intron_variant ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500579650 ATTT -> A LOC_Os05g02010.1 downstream_gene_variant ; 2785.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500579650 ATTT -> A LOC_Os05g02010.2 downstream_gene_variant ; 2785.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500579650 ATTT -> A LOC_Os05g02010.3 downstream_gene_variant ; 2770.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500579650 ATTT -> A LOC_Os05g02010.4 downstream_gene_variant ; 2770.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500579650 ATTT -> A LOC_Os05g02020.1 intron_variant ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500579650 ATTT -> A LOC_Os05g02020.2 intron_variant ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500579650 ATTT -> AT LOC_Os05g02010.1 downstream_gene_variant ; 2786.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500579650 ATTT -> AT LOC_Os05g02010.2 downstream_gene_variant ; 2786.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500579650 ATTT -> AT LOC_Os05g02010.3 downstream_gene_variant ; 2771.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500579650 ATTT -> AT LOC_Os05g02010.4 downstream_gene_variant ; 2771.0bp to feature; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500579650 ATTT -> AT LOC_Os05g02020.1 intron_variant ; MODIFIER silent_mutation Average:4.21; most accessible tissue: Minghui63 panicle, score: 7.125 N N N N
vg0500579650 ATTT -> AT LOC_Os05g02020.2 intron_variant ; 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)
vg0500579650 ATTT A 0.06 0.11 0.12 0.01 0.01 0.02
vg0500579650 ATTT AT 0.02 0.1 0.11 0.01 0.06 0.06
vg0500579650 ATTT ATT 0.01 0.09 0.08 -0.01 0.01 0.01