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Detailed information for vg0222981421:

Variant ID: vg0222981421 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 22981421
Reference Allele: CAlternative Allele: CAGG
Primary Allele: CSecondary Allele: CAGG

Inferred Ancestral Allele : C (evidence from allele frequency in Oryza rufipogon: C: 1.00, others allele: 0.00, population size: 300. )

Flanking Sequence (100 bp) in Reference Genome:


CAGCCGTGTGTTTGTGTGTGTTTACCTTCGCTGATTCCTTACCATTTACCATTTTTGTTGTTGTTGTTTTAACCGTTTTGCTGTTTAAAACTTTTAAACC[C/CAGG]
AGGTTACTGGACCACAGTGCCTGTGTGTTTGTTATATTTACCTTGCTGATTCCTAACATTTTTTTGGAGGTTTTCGTTTAACCATTTTGTGACTTTGTTT

Reverse complement sequence

AAACAAAGTCACAAAATGGTTAAACGAAAACCTCCAAAAAAATGTTAGGAATCAGCAAGGTAAATATAACAAACACACAGGCACTGTGGTCCAGTAACCT[G/CCTG]
GGTTTAAAAGTTTTAAACAGCAAAACGGTTAAAACAACAACAACAAAAATGGTAAATGGTAAGGAATCAGCGAAGGTAAACACACACAAACACACGGCTG

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of CAGG(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 96.70% 3.30% 0.00% 0.00% NA
All Indica  2759 98.80% 1.20% 0.00% 0.00% NA
All Japonica  1512 99.90% 0.10% 0.00% 0.00% NA
Aus  269 54.30% 45.70% 0.00% 0.00% NA
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 98.50% 1.50% 0.00% 0.00% NA
Indica III  913 99.10% 0.90% 0.00% 0.00% NA
Indica Intermediate  786 97.70% 2.30% 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 99.60% 0.40% 0.00% 0.00% NA
VI/Aromatic  96 99.00% 1.00% 0.00% 0.00% NA
Intermediate  90 100.00% 0.00% 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
vg0222981421 C -> CAGG LOC_Os02g38040.1 3_prime_UTR_variant ; 196.0bp to feature; MODIFIER silent_mutation Average:83.155; most accessible tissue: Minghui63 root, score: 92.642 N N N N
vg0222981421 C -> CAGG LOC_Os02g38029.1 upstream_gene_variant ; 4786.0bp to feature; MODIFIER silent_mutation Average:83.155; most accessible tissue: Minghui63 root, score: 92.642 N N N N
vg0222981421 C -> CAGG LOC_Os02g38050.1 downstream_gene_variant ; 424.0bp to feature; MODIFIER silent_mutation Average:83.155; most accessible tissue: Minghui63 root, score: 92.642 N N N N
vg0222981421 C -> CAGG LOC_Os02g38050.4 downstream_gene_variant ; 411.0bp to feature; MODIFIER silent_mutation Average:83.155; most accessible tissue: Minghui63 root, score: 92.642 N N N N
vg0222981421 C -> CAGG LOC_Os02g38050.3 downstream_gene_variant ; 411.0bp to feature; MODIFIER silent_mutation Average:83.155; most accessible tissue: Minghui63 root, score: 92.642 N N N N
vg0222981421 C -> CAGG LOC_Os02g38050.5 downstream_gene_variant ; 411.0bp to feature; MODIFIER silent_mutation Average:83.155; most accessible tissue: Minghui63 root, score: 92.642 N N N N
vg0222981421 C -> CAGG LOC_Os02g38050.6 downstream_gene_variant ; 411.0bp to feature; MODIFIER silent_mutation Average:83.155; most accessible tissue: Minghui63 root, score: 92.642 N N N N
vg0222981421 C -> CAGG LOC_Os02g38050.2 downstream_gene_variant ; 424.0bp to feature; MODIFIER silent_mutation Average:83.155; most accessible tissue: Minghui63 root, score: 92.642 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)
vg0222981421 C CAGG -0.06 0.05 0.13 0.06 0.07 0.0