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Detailed information for vg1100142572:

Variant ID: vg1100142572 (JBrowse)Variation Type: INDEL
Chromosome: chr11Position: 142572
Reference Allele: ATGCGAGGACTAGTCGTTAlternative Allele: A
Primary Allele: ASecondary Allele: ATGCGAGGACTAGTCGTT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CAAGCATAGTGAGCTTGAGTTGGCATATGTTGTACTCGCTGATACAGTTGAAGCCACTATGGTTAGTGTCCAAGTTATTGAGGGGTCATGGCCAGATCAT[ATGCGAGGACTAGTCGTT/A]
TGCCGTACCGCCAGCGTAGAGGGAGGGGATTCCGTGTTGCTTGATTCTCGAGATGGAAGAATGCCTATCAATTGAGCTTTCAAGGCATGTGGTTTCTGTG

Reverse complement sequence

CACAGAAACCACATGCCTTGAAAGCTCAATTGATAGGCATTCTTCCATCTCGAGAATCAAGCAACACGGAATCCCCTCCCTCTACGCTGGCGGTACGGCA[AACGACTAGTCCTCGCAT/T]
ATGATCTGGCCATGACCCCTCAATAACTTGGACACTAACCATAGTGGCTTCAACTGTATCAGCGAGTACAACATATGCCAACTCAAGCTCACTATGCTTG

Allele Frequencies:

Populations Population SizeFrequency of A(primary allele) Frequency of ATGCGAGGACTAGTCGTT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 56.00% 43.70% 0.23% 0.00% NA
All Indica  2759 87.00% 12.60% 0.33% 0.00% NA
All Japonica  1512 1.50% 98.50% 0.00% 0.00% NA
Aus  269 68.40% 30.90% 0.74% 0.00% NA
Indica I  595 98.00% 1.50% 0.50% 0.00% NA
Indica II  465 54.00% 45.60% 0.43% 0.00% NA
Indica III  913 95.00% 4.90% 0.11% 0.00% NA
Indica Intermediate  786 89.10% 10.60% 0.38% 0.00% NA
Temperate Japonica  767 1.30% 98.70% 0.00% 0.00% NA
Tropical Japonica  504 1.40% 98.60% 0.00% 0.00% NA
Japonica Intermediate  241 2.50% 97.50% 0.00% 0.00% NA
VI/Aromatic  96 15.60% 84.40% 0.00% 0.00% NA
Intermediate  90 27.80% 72.20% 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
vg1100142572 ATGCGAGGACTAGTCGTT -> A LOC_Os11g01260.1 frameshift_variant ; p.Arg130fs; HIGH frameshift_variant Average:77.305; most accessible tissue: Callus, score: 93.38 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)
vg1100142572 ATGCG* A -0.05 -0.08 -0.03 -0.11 -0.1 -0.07