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Detailed information for vg0722874347:

Variant ID: vg0722874347 (JBrowse)Variation Type: INDEL
Chromosome: chr07Position: 22874347
Reference Allele: GAlternative Allele: GCAT
Primary Allele: GSecondary Allele: GCAT

Inferred Ancestral Allele : G (evidence from allele frequency in Oryza rufipogon: G: 1.01, others allele: 0.00, population size: 336. )

Flanking Sequence (100 bp) in Reference Genome:


AAGTACGAGTACAAGAACGAAAGGCAAATTATATCAAACACTTATCATTTCGATGATACATTAGGGCGATCCATAACGTACATTCACAATACACACACTT[G/GCAT]
CATCATCATCATCATCGTACTCCATACACGGTACACGTACGCACACGTACACACGGCTCCCTCGTTTCGTACAATCTGAAGGAGAGTCGACCACGCACGC

Reverse complement sequence

GCGTGCGTGGTCGACTCTCCTTCAGATTGTACGAAACGAGGGAGCCGTGTGTACGTGTGCGTACGTGTACCGTGTATGGAGTACGATGATGATGATGATG[C/ATGC]
AAGTGTGTGTATTGTGAATGTACGTTATGGATCGCCCTAATGTATCATCGAAATGATAAGTGTTTGATATAATTTGCCTTTCGTTCTTGTACTCGTACTT

Allele Frequencies:

Populations Population SizeFrequency of G(primary allele) Frequency of GCAT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 53.40% 46.20% 0.28% 0.06% NA
All Indica  2759 26.90% 72.60% 0.47% 0.11% NA
All Japonica  1512 94.00% 6.00% 0.00% 0.00% NA
Aus  269 76.20% 23.80% 0.00% 0.00% NA
Indica I  595 5.40% 94.10% 0.50% 0.00% NA
Indica II  465 37.40% 61.90% 0.65% 0.00% NA
Indica III  913 33.60% 66.20% 0.11% 0.11% NA
Indica Intermediate  786 29.00% 70.00% 0.76% 0.25% NA
Temperate Japonica  767 99.50% 0.50% 0.00% 0.00% NA
Tropical Japonica  504 85.70% 14.30% 0.00% 0.00% NA
Japonica Intermediate  241 93.80% 6.20% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 70.00% 30.00% 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
vg0722874347 G -> DEL N N silent_mutation Average:92.831; most accessible tissue: Minghui63 panicle, score: 99.892 N N N N
vg0722874347 G -> GCAT LOC_Os07g38130.1 3_prime_UTR_variant ; 300.0bp to feature; MODIFIER silent_mutation Average:92.831; most accessible tissue: Minghui63 panicle, score: 99.892 N N N N
vg0722874347 G -> GCAT LOC_Os07g38140.1 downstream_gene_variant ; 4147.0bp to feature; MODIFIER silent_mutation Average:92.831; most accessible tissue: Minghui63 panicle, score: 99.892 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)
vg0722874347 G GCAT -0.29 -0.14 -0.05 0.1 -0.02 -0.1