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Detailed information for vg1123431948:

Variant ID: vg1123431948 (JBrowse)Variation Type: INDEL
Chromosome: chr11Position: 23431948
Reference Allele: CTGAlternative Allele: ATG,C
Primary Allele: CTGSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CAACATTGCCTTCCAGCATCTGCACAACCTCTGACATAGCAGGGCGAAGATGAGGCTCCACATGAGTGCAGAGGAGTGCTATTTGGATCATCTTCTCCAG[CTG/ATG,C]
TTGCAAATCGTATGCAGTGTCCAGGTTGTGGTCCACAATGTCTGTCAATCGTCCTCCTTGCACCAACCTTTTCACCTTCACATGTACCAAAGAGTCAATC

Reverse complement sequence

GATTGACTCTTTGGTACATGTGAAGGTGAAAAGGTTGGTGCAAGGAGGACGATTGACAGACATTGTGGACCACAACCTGGACACTGCATACGATTTGCAA[CAG/CAT,G]
CTGGAGAAGATGATCCAAATAGCACTCCTCTGCACTCATGTGGAGCCTCATCTTCGCCCTGCTATGTCAGAGGTTGTGCAGATGCTGGAAGGCAATGTTG

Allele Frequencies:

Populations Population SizeFrequency of CTG(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 83.50% 9.50% 0.08% 0.00% ATG: 6.92%
All Indica  2759 90.50% 5.00% 0.04% 0.00% ATG: 4.49%
All Japonica  1512 76.10% 14.30% 0.13% 0.00% ATG: 9.52%
Aus  269 74.30% 9.70% 0.00% 0.00% ATG: 15.99%
Indica I  595 99.20% 0.80% 0.00% 0.00% NA
Indica II  465 94.40% 3.70% 0.00% 0.00% ATG: 1.94%
Indica III  913 79.70% 9.10% 0.00% 0.00% ATG: 11.17%
Indica Intermediate  786 94.10% 4.10% 0.13% 0.00% ATG: 1.65%
Temperate Japonica  767 69.60% 14.70% 0.26% 0.00% ATG: 15.38%
Tropical Japonica  504 86.50% 13.50% 0.00% 0.00% NA
Japonica Intermediate  241 74.70% 14.50% 0.00% 0.00% ATG: 10.79%
VI/Aromatic  96 28.10% 63.50% 0.00% 0.00% ATG: 8.33%
Intermediate  90 77.80% 12.20% 1.11% 0.00% ATG: 8.89%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1123431948 CTG -> ATG LOC_Os11g39370.1 missense_variant ; p.Gln527His; MODERATE nonsynonymous_codon ; Q527D Average:69.269; most accessible tissue: Zhenshan97 young leaf, score: 86.055 benign -0.283 N N
vg1123431948 CTG -> ATG LOC_Os11g39370.1 missense_variant ; p.Gln527His; MODERATE nonsynonymous_codon ; Q527H Average:69.269; most accessible tissue: Zhenshan97 young leaf, score: 86.055 possibly damaging +1.919 N N
vg1123431948 CTG -> C LOC_Os11g39370.1 frameshift_variant ; p.Gln527fs; HIGH frameshift_variant Average:69.269; most accessible tissue: Zhenshan97 young leaf, score: 86.055 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)
vg1123431948 CTG ATG 0.0 -0.01 -0.01 0.0 0.0 0.01
vg1123431948 CTG C -0.06 -0.01 -0.11 0.07 0.01 0.04

Putative Genotype-Phenotype Associations:

Var ID LMM P-value LR P-value Trait Subpopulation Is leadSNP Publication
vg1123431948 3.38E-10 8.50E-07 Awn_length Ind_All YES Breeding signatures of rice improvement revealed by a genomic variation map from a large germplasm collection, Proc Natl Acad Sci USA, 112(39): E5411-E5419, PMID:26358652