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Detailed information for vg0825984536:

Variant ID: vg0825984536 (JBrowse)Variation Type: INDEL
Chromosome: chr08Position: 25984536
Reference Allele: GAlternative Allele: GGTC
Primary Allele: GSecondary Allele: GGTC

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TCTCCACCGACACGCTCTCCCACAGCTTCTGTGCACACATCAGCTTCAACCTCTCCAATGCGTACCTGTCCGCCGCCACGAGCAAGCTCTCGAAAAAACC[G/GGTC]
GTCGTCGTCGACGACGACGACGACGACGTCGATGGCGACGGCAAGGCGTCCGTGTACACGAAGTGTAGTAGAGCTTTGAACGTGGCCGGATCGATGTCGT

Reverse complement sequence

ACGACATCGATCCGGCCACGTTCAAAGCTCTACTACACTTCGTGTACACGGACGCCTTGCCGTCGCCATCGACGTCGTCGTCGTCGTCGTCGACGACGAC[C/GACC]
GGTTTTTTCGAGAGCTTGCTCGTGGCGGCGGACAGGTACGCATTGGAGAGGTTGAAGCTGATGTGTGCACAGAAGCTGTGGGAGAGCGTGTCGGTGGAGA

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of GGTC(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 94.40% 5.50% 0.02% 0.00% NA
All Indica  2759 97.40% 2.60% 0.00% 0.00% NA
All Japonica  1512 100.00% 0.00% 0.00% 0.00% NA
Aus  269 34.20% 65.40% 0.37% 0.00% NA
Indica I  595 99.30% 0.70% 0.00% 0.00% NA
Indica II  465 98.10% 1.90% 0.00% 0.00% NA
Indica III  913 95.90% 4.10% 0.00% 0.00% NA
Indica Intermediate  786 97.10% 2.90% 0.00% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 91.70% 8.30% 0.00% 0.00% NA
Intermediate  90 94.40% 5.60% 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
vg0825984536 G -> GGTC LOC_Os08g41120.1 disruptive_inframe_insertion ; p.Thr248dup; MODERATE inframe_variant Average:86.819; most accessible tissue: Zhenshan97 young leaf, score: 93.55 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)
vg0825984536 G GGTC 0.24 0.17 0.2 0.12 0.18 0.19