Search for Variation information by Variation ID:

Please input a variation ID (e.g., vg0722097923 , STR0500036000 ).

Detailed information for vg0335312932:

Variant ID: vg0335312932 (JBrowse)Variation Type: INDEL
Chromosome: chr03Position: 35312932
Reference Allele: CAlternative Allele: CACA
Primary Allele: CSecondary Allele: CACA

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 0.99, others allele: 0.00, population size: 354. )

Flanking Sequence (100 bp) in Reference Genome:


GGGTTAGATCTACCACAATTCCTAAGCTACTACATCTGCCATCCGAATGTGCATATCATCCACTTCCTTTCAATTTGCATTCACCATTCCAACCAATCGA[C/CACA]
ACAACAGCAGCAGCAAAGTTATGAGAATTGAGAGACTCTATACACACAGCTCCCCATTCACATGGCTCAAAATCAGAACAAATGGTGGTTAAGAAAAAAG

Reverse complement sequence

CTTTTTTCTTAACCACCATTTGTTCTGATTTTGAGCCATGTGAATGGGGAGCTGTGTGTATAGAGTCTCTCAATTCTCATAACTTTGCTGCTGCTGTTGT[G/TGTG]
TCGATTGGTTGGAATGGTGAATGCAAATTGAAAGGAAGTGGATGATATGCACATTCGGATGGCAGATGTAGTAGCTTAGGAATTGTGGTAGATCTAACCC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of CACA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 59.80% 39.90% 0.30% 0.06% NA
All Indica  2759 38.00% 61.60% 0.25% 0.11% NA
All Japonica  1512 97.50% 2.10% 0.46% 0.00% NA
Aus  269 59.90% 40.10% 0.00% 0.00% NA
Indica I  595 69.60% 30.10% 0.17% 0.17% NA
Indica II  465 22.60% 76.60% 0.43% 0.43% NA
Indica III  913 30.80% 69.20% 0.00% 0.00% NA
Indica Intermediate  786 31.70% 67.80% 0.51% 0.00% NA
Temperate Japonica  767 98.20% 0.90% 0.91% 0.00% NA
Tropical Japonica  504 95.40% 4.60% 0.00% 0.00% NA
Japonica Intermediate  241 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 95.80% 4.20% 0.00% 0.00% NA
Intermediate  90 54.40% 45.60% 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
vg0335312932 C -> DEL N N silent_mutation Average:89.672; most accessible tissue: Zhenshan97 flower, score: 96.028 N N N N
vg0335312932 C -> CACA LOC_Os03g62340.1 3_prime_UTR_variant ; 107.0bp to feature; MODIFIER silent_mutation Average:89.672; most accessible tissue: Zhenshan97 flower, score: 96.028 N N N N
vg0335312932 C -> CACA LOC_Os03g62314.1 upstream_gene_variant ; 3547.0bp to feature; MODIFIER silent_mutation Average:89.672; most accessible tissue: Zhenshan97 flower, score: 96.028 N N N N
vg0335312932 C -> CACA LOC_Os03g62330.1 upstream_gene_variant ; 2181.0bp to feature; MODIFIER silent_mutation Average:89.672; most accessible tissue: Zhenshan97 flower, score: 96.028 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)
vg0335312932 C CACA -0.22 -0.1 0.06 -0.05 -0.1 -0.08