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Detailed information for vg0141604376:

Variant ID: vg0141604376 (JBrowse)Variation Type: SNP
Chromosome: chr01Position: 41604376
Reference Allele: CAlternative Allele: G
Primary Allele: CSecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GCCGTCGGCGGGAGGGTTCGCGGCGAACGTGGAGAACGCGAGGAATCACAACCAGGGCGTGATCGACAACGTCAAGAACGGGACGCCGAAGCGGCCCGGG[C/G]
AGCTGGAGACGTACGTGTTCGCCATGTTCAACGAGAACCAGAAGCCCGGGGATGAGACCGAGAGGCATTTTGGGCTCTTCAATCCTGACAAGACGCCGGT

Reverse complement sequence

ACCGGCGTCTTGTCAGGATTGAAGAGCCCAAAATGCCTCTCGGTCTCATCCCCGGGCTTCTGGTTCTCGTTGAACATGGCGAACACGTACGTCTCCAGCT[G/C]
CCCGGGCCGCTTCGGCGTCCCGTTCTTGACGTTGTCGATCACGCCCTGGTTGTGATTCCTCGCGTTCTCCACGTTCGCCGCGAACCCTCCCGCCGACGGC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 90.00% 2.80% 4.34% 2.86% NA
All Indica  2759 83.50% 4.40% 7.36% 4.75% NA
All Japonica  1512 99.20% 0.50% 0.13% 0.13% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 88.60% 1.80% 3.87% 5.71% NA
Indica II  465 89.70% 0.00% 6.24% 4.09% NA
Indica III  913 74.50% 8.70% 11.61% 5.26% NA
Indica Intermediate  786 86.40% 4.10% 5.73% 3.82% NA
Temperate Japonica  767 99.90% 0.00% 0.00% 0.13% NA
Tropical Japonica  504 98.20% 1.40% 0.40% 0.00% NA
Japonica Intermediate  241 99.20% 0.40% 0.00% 0.41% NA
VI/Aromatic  96 97.90% 2.10% 0.00% 0.00% NA
Intermediate  90 97.80% 0.00% 0.00% 2.22% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0141604376 C -> G LOC_Os01g71830.1 missense_variant ; p.Gln277Glu; MODERATE nonsynonymous_codon ; Q277V Average:58.22; most accessible tissue: Zhenshan97 root, score: 95.209 benign 0.023 TOLERATED 0.14
vg0141604376 C -> DEL LOC_Os01g71830.1 N frameshift_variant Average:58.22; most accessible tissue: Zhenshan97 root, score: 95.209 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)
vg0141604376 C G -0.09 -0.05 -0.03 -0.04 -0.06 -0.05