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Detailed information for vg1225035684:

Variant ID: vg1225035684 (JBrowse)Variation Type: INDEL
Chromosome: chr12Position: 25035684
Reference Allele: GAlternative Allele: GCGCCGC
Primary Allele: GSecondary Allele: GCGCCGC

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCCGCCGGGGCCGGTGCCGCCGCGGCGGCGGGAGAACGGGGAGGATTTCGCGGCGGCGGAGCGGTAGGAGCGGAAGGAGAAGACGCGGGAGGCGGCGGCG[G/GCGCCGC]
CGCCGCCGCCGAACGGGGATGGCCAGCGCTTGCTCCAGAAGCTGCTGCGGCCGCCGCGGTTTGGGCCGTCCGCGCCGCCGCCGCCGCCGCCGATGTTGAG

Reverse complement sequence

CTCAACATCGGCGGCGGCGGCGGCGGCGCGGACGGCCCAAACCGCGGCGGCCGCAGCAGCTTCTGGAGCAAGCGCTGGCCATCCCCGTTCGGCGGCGGCG[C/GCGGCGC]
CGCCGCCGCCTCCCGCGTCTTCTCCTTCCGCTCCTACCGCTCCGCCGCCGCGAAATCCTCCCCGTTCTCCCGCCGCCGCGGCGGCACCGGCCCCGGCGGC

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of GCGCCGC(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 31.80% 0.60% 25.94% 41.66% NA
All Indica  2759 34.70% 0.00% 22.00% 43.31% NA
All Japonica  1512 26.90% 1.90% 26.65% 44.64% NA
Aus  269 26.40% 0.00% 59.48% 14.13% NA
Indica I  595 26.60% 0.00% 22.69% 50.76% NA
Indica II  465 25.60% 0.00% 21.51% 52.90% NA
Indica III  913 51.30% 0.00% 19.61% 29.13% NA
Indica Intermediate  786 27.00% 0.00% 24.55% 48.47% NA
Temperate Japonica  767 3.00% 3.50% 28.68% 64.80% NA
Tropical Japonica  504 62.30% 0.00% 17.26% 20.44% NA
Japonica Intermediate  241 28.60% 0.40% 39.83% 31.12% NA
VI/Aromatic  96 38.50% 0.00% 38.54% 22.92% NA
Intermediate  90 35.60% 0.00% 21.11% 43.33% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1225035684 G -> DEL LOC_Os12g40460.1 N frameshift_variant Average:93.361; most accessible tissue: Minghui63 panicle, score: 98.67 N N N N
vg1225035684 G -> GCGCCGC LOC_Os12g40460.1 inframe_insertion ; p.Gly223_Gly224dup; MODERATE inframe_variant Average:93.361; most accessible tissue: Minghui63 panicle, score: 98.67 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)
vg1225035684 G GCGCC* 0.17 0.08 -0.01 0.07 0.09 0.11