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Detailed information for vg1225035686:

Variant ID: vg1225035686 (JBrowse)Variation Type: INDEL
Chromosome: chr12Position: 25035686
Reference Allele: GAlternative Allele: GCCGCCT
Primary Allele: GCCGCCTSecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CGCCGGGGCCGGTGCCGCCGCGGCGGCGGGAGAACGGGGAGGATTTCGCGGCGGCGGAGCGGTAGGAGCGGAAGGAGAAGACGCGGGAGGCGGCGGCGGC[G/GCCGCCT]
CCGCCGCCGAACGGGGATGGCCAGCGCTTGCTCCAGAAGCTGCTGCGGCCGCCGCGGTTTGGGCCGTCCGCGCCGCCGCCGCCGCCGCCGATGTTGAGGC

Reverse complement sequence

GCCTCAACATCGGCGGCGGCGGCGGCGGCGCGGACGGCCCAAACCGCGGCGGCCGCAGCAGCTTCTGGAGCAAGCGCTGGCCATCCCCGTTCGGCGGCGG[C/AGGCGGC]
GCCGCCGCCGCCTCCCGCGTCTTCTCCTTCCGCTCCTACCGCTCCGCCGCCGCGAAATCCTCCCCGTTCTCCCGCCGCCGCGGCGGCACCGGCCCCGGCG

Allele Frequencies:

Populations Population SizeFrequency of GCCGCCT(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 44.30% 15.60% 11.72% 28.42% NA
All Indica  2759 48.80% 0.30% 13.16% 37.77% NA
All Japonica  1512 30.70% 47.20% 7.28% 14.81% NA
Aus  269 70.60% 0.00% 19.33% 10.04% NA
Indica I  595 34.60% 0.00% 18.66% 46.72% NA
Indica II  465 45.20% 0.20% 10.32% 44.30% NA
Indica III  913 64.70% 0.50% 10.51% 24.21% NA
Indica Intermediate  786 43.10% 0.30% 13.74% 42.88% NA
Temperate Japonica  767 3.30% 81.60% 2.87% 12.26% NA
Tropical Japonica  504 70.00% 2.80% 9.13% 18.06% NA
Japonica Intermediate  241 35.70% 30.70% 17.43% 16.18% NA
VI/Aromatic  96 52.10% 0.00% 16.67% 31.25% NA
Intermediate  90 46.70% 16.70% 14.44% 22.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1225035686 G -> GCCGCCT LOC_Os12g40460.1 disruptive_inframe_insertion ; p.Gly223_Gly224dup; MODERATE inframe_variant Average:93.289; most accessible tissue: Minghui63 panicle, score: 98.608 N N N N
vg1225035686 G -> DEL LOC_Os12g40460.1 N frameshift_variant Average:93.289; most accessible tissue: Minghui63 panicle, score: 98.608 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)
vg1225035686 G GCCGC* 0.14 0.02 -0.11 0.01 -0.02 -0.02