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Detailed information for vg0728679255:

Variant ID: vg0728679255 (JBrowse)Variation Type: INDEL
Chromosome: chr07Position: 28679255
Reference Allele: CATAlternative Allele: C
Primary Allele: CSecondary Allele: CAT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AATACCGACCTCCCTGCCCCTTCCTCTAGCCTCGCTGAACTTATCGGCAATTTCTCCAGAAAGGGACTCGACGTAACCGACATGGTTGCTCTCTCAGGTA[CAT/C]
ATATATGTACACAGATTATATCAGTGATTGATTCTCTTACAAATTTTCTGATAAGAATCATAATACGATGAGAACTTGCAGGCGCACACACGATCGGGCA

Reverse complement sequence

TGCCCGATCGTGTGTGCGCCTGCAAGTTCTCATCGTATTATGATTCTTATCAGAAAATTTGTAAGAGAATCAATCACTGATATAATCTGTGTACATATAT[ATG/G]
TACCTGAGAGAGCAACCATGTCGGTTACGTCGAGTCCCTTTCTGGAGAAATTGCCGATAAGTTCAGCGAGGCTAGAGGAAGGGGCAGGGAGGTCGGTATT

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of CAT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 61.00% 38.70% 0.11% 0.19% NA
All Indica  2759 94.30% 5.20% 0.14% 0.29% NA
All Japonica  1512 1.10% 98.80% 0.07% 0.07% NA
Aus  269 83.30% 16.70% 0.00% 0.00% NA
Indica I  595 99.70% 0.20% 0.00% 0.17% NA
Indica II  465 95.70% 3.90% 0.22% 0.22% NA
Indica III  913 94.90% 4.90% 0.11% 0.11% NA
Indica Intermediate  786 88.90% 10.20% 0.25% 0.64% NA
Temperate Japonica  767 1.30% 98.70% 0.00% 0.00% NA
Tropical Japonica  504 0.80% 99.00% 0.00% 0.20% NA
Japonica Intermediate  241 0.80% 98.80% 0.41% 0.00% NA
VI/Aromatic  96 4.20% 95.80% 0.00% 0.00% NA
Intermediate  90 38.90% 61.10% 0.00% 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
vg0728679255 CAT -> DEL N N silent_mutation Average:80.693; most accessible tissue: Minghui63 flower, score: 87.818 N N N N
vg0728679255 CAT -> C LOC_Os07g48030.1 splice_region_variant&intron_variant ; LOW silent_mutation Average:80.693; most accessible tissue: Minghui63 flower, score: 87.818 N N N N
vg0728679255 CAT -> C LOC_Os07g48040.1 upstream_gene_variant ; 4862.0bp to feature; MODIFIER silent_mutation Average:80.693; most accessible tissue: Minghui63 flower, score: 87.818 N N N N
vg0728679255 CAT -> C LOC_Os07g48020.1 downstream_gene_variant ; 3823.0bp to feature; MODIFIER silent_mutation Average:80.693; most accessible tissue: Minghui63 flower, score: 87.818 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)
vg0728679255 CAT C -0.07 -0.02 -0.03 0.16 0.0 -0.09