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Detailed information for vg0825984544:

Variant ID: vg0825984544 (JBrowse)Variation Type: INDEL
Chromosome: chr08Position: 25984544
Reference Allele: TCGACGACGAAlternative Allele: T,TCGA,TCGACGA
Primary Allele: TSecondary Allele: TCGACGACGA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GACACGCTCTCCCACAGCTTCTGTGCACACATCAGCTTCAACCTCTCCAATGCGTACCTGTCCGCCGCCACGAGCAAGCTCTCGAAAAAACCGGTCGTCG[TCGACGACGA/T,TCGA,TCGACGA]
CGACGACGACGTCGATGGCGACGGCAAGGCGTCCGTGTACACGAAGTGTAGTAGAGCTTTGAACGTGGCCGGATCGATGTCGTGCAGGGTGACGCACGGC

Reverse complement sequence

GCCGTGCGTCACCCTGCACGACATCGATCCGGCCACGTTCAAAGCTCTACTACACTTCGTGTACACGGACGCCTTGCCGTCGCCATCGACGTCGTCGTCG[TCGTCGTCGA/A,TCGA,TCGTCGA]
CGACGACCGGTTTTTTCGAGAGCTTGCTCGTGGCGGCGGACAGGTACGCATTGGAGAGGTTGAAGCTGATGTGTGCACAGAAGCTGTGGGAGAGCGTGTC

Allele Frequencies:

Populations Population SizeFrequency of T(primary allele) Frequency of TCGACGACGA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 56.60% 41.50% 0.19% 0.15% TCGA: 1.50%; TCGACGA: 0.06%
All Indica  2759 93.30% 4.00% 0.22% 0.22% TCGA: 2.14%; TCGACGA: 0.11%
All Japonica  1512 2.20% 97.70% 0.07% 0.00% NA
Aus  269 8.60% 87.00% 0.37% 0.00% TCGA: 4.09%
Indica I  595 98.00% 1.20% 0.17% 0.34% TCGACGA: 0.34%
Indica II  465 89.50% 3.90% 0.22% 0.00% TCGA: 6.45%
Indica III  913 92.90% 4.60% 0.00% 0.22% TCGA: 2.30%
Indica Intermediate  786 92.60% 5.50% 0.51% 0.25% TCGA: 1.02%; TCGACGA: 0.13%
Temperate Japonica  767 2.50% 97.40% 0.13% 0.00% NA
Tropical Japonica  504 1.40% 98.60% 0.00% 0.00% NA
Japonica Intermediate  241 3.30% 96.70% 0.00% 0.00% NA
VI/Aromatic  96 2.10% 97.90% 0.00% 0.00% NA
Intermediate  90 43.30% 53.30% 1.11% 1.11% TCGA: 1.11%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0825984544 TCGACGACGA -> TCGA LOC_Os08g41120.1 inframe_deletion ; p.Ser243_Ser244del; MODERATE inframe_variant Average:86.731; most accessible tissue: Zhenshan97 young leaf, score: 93.416 N N N N
vg0825984544 TCGACGACGA -> T LOC_Os08g41120.1 inframe_deletion ; p.Ser243_Ser245del; MODERATE inframe_variant Average:86.731; most accessible tissue: Zhenshan97 young leaf, score: 93.416 N N N N
vg0825984544 TCGACGACGA -> TCGACGA LOC_Os08g41120.1 inframe_deletion ; p.Ser243del; MODERATE inframe_variant Average:86.731; most accessible tissue: Zhenshan97 young leaf, score: 93.416 N N N N
vg0825984544 TCGACGACGA -> DEL LOC_Os08g41120.1 N frameshift_variant Average:86.731; most accessible tissue: Zhenshan97 young leaf, score: 93.416 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)
vg0825984544 TCGAC* T -0.23 -0.16 -0.13 -0.09 -0.14 -0.15
vg0825984544 TCGAC* TCGA -0.17 -0.14 -0.13 -0.06 -0.08 -0.09
vg0825984544 TCGAC* TCGAC* -0.11 -0.1 -0.14 -0.05 -0.06 -0.03