Search for Variation information by Variation ID:

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

Detailed information for vg0517886408:

Variant ID: vg0517886408 (JBrowse)Variation Type: INDEL
Chromosome: chr05Position: 17886408
Reference Allele: GAAAlternative Allele: GA,G,GAAA
Primary Allele: GAASecondary Allele: GA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTTCCTAACTGTTGTTGAGGAAATCCCTGGCCATGGTTTATTAATAAAGTTATAACCACGGGGGCCTCCTCTGCTGTAGGTTTGATCCACACACATACAC[GAA/GA,G,GAAA]
AAAAAAAAACCTGGCCCACTGCCTAACAGACAAACAGTAGCATTTACCAAACATCCATAGTTACCACTTTTTTGTTGATGTGGACATAAACAAGCTATGA

Reverse complement sequence

TCATAGCTTGTTTATGTCCACATCAACAAAAAAGTGGTAACTATGGATGTTTGGTAAATGCTACTGTTTGTCTGTTAGGCAGTGGGCCAGGTTTTTTTTT[TTC/TC,C,TTTC]
GTGTATGTGTGTGGATCAAACCTACAGCAGAGGAGGCCCCCGTGGTTATAACTTTATTAATAAACCATGGCCAGGGATTTCCTCAACAACAGTTAGGAAA

Allele Frequencies:

Populations Population SizeFrequency of GAA(primary allele) Frequency of GA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 72.00% 23.90% 0.15% 0.00% G: 3.91%; GAAA: 0.02%
All Indica  2759 93.90% 5.20% 0.07% 0.00% G: 0.80%; GAAA: 0.04%
All Japonica  1512 42.10% 57.60% 0.26% 0.00% G: 0.07%
Aus  269 40.90% 0.00% 0.00% 0.00% G: 59.11%
Indica I  595 100.00% 0.00% 0.00% 0.00% NA
Indica II  465 75.30% 23.90% 0.22% 0.00% G: 0.65%
Indica III  913 98.00% 0.40% 0.00% 0.00% G: 1.42%; GAAA: 0.11%
Indica Intermediate  786 95.40% 3.70% 0.13% 0.00% G: 0.76%
Temperate Japonica  767 63.90% 35.90% 0.26% 0.00% NA
Tropical Japonica  504 23.20% 76.60% 0.20% 0.00% NA
Japonica Intermediate  241 12.00% 87.10% 0.41% 0.00% G: 0.41%
VI/Aromatic  96 9.40% 89.60% 0.00% 0.00% G: 1.04%
Intermediate  90 64.40% 32.20% 1.11% 0.00% G: 2.22%

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0517886408 GAA -> G LOC_Os05g30810.1 upstream_gene_variant ; 4161.0bp to feature; MODIFIER silent_mutation Average:72.385; most accessible tissue: Minghui63 flower, score: 89.033 N N N N
vg0517886408 GAA -> G LOC_Os05g30810.2 upstream_gene_variant ; 4161.0bp to feature; MODIFIER silent_mutation Average:72.385; most accessible tissue: Minghui63 flower, score: 89.033 N N N N
vg0517886408 GAA -> G LOC_Os05g30820.2 downstream_gene_variant ; 89.0bp to feature; MODIFIER silent_mutation Average:72.385; most accessible tissue: Minghui63 flower, score: 89.033 N N N N
vg0517886408 GAA -> G LOC_Os05g30820.1 intron_variant ; MODIFIER silent_mutation Average:72.385; most accessible tissue: Minghui63 flower, score: 89.033 N N N N
vg0517886408 GAA -> GA LOC_Os05g30810.1 upstream_gene_variant ; 4162.0bp to feature; MODIFIER silent_mutation Average:72.385; most accessible tissue: Minghui63 flower, score: 89.033 N N N N
vg0517886408 GAA -> GA LOC_Os05g30810.2 upstream_gene_variant ; 4162.0bp to feature; MODIFIER silent_mutation Average:72.385; most accessible tissue: Minghui63 flower, score: 89.033 N N N N
vg0517886408 GAA -> GA LOC_Os05g30820.2 downstream_gene_variant ; 88.0bp to feature; MODIFIER silent_mutation Average:72.385; most accessible tissue: Minghui63 flower, score: 89.033 N N N N
vg0517886408 GAA -> GA LOC_Os05g30820.1 intron_variant ; MODIFIER silent_mutation Average:72.385; most accessible tissue: Minghui63 flower, score: 89.033 N N N N
vg0517886408 GAA -> GAAA LOC_Os05g30810.1 upstream_gene_variant ; 4163.0bp to feature; MODIFIER silent_mutation Average:72.385; most accessible tissue: Minghui63 flower, score: 89.033 N N N N
vg0517886408 GAA -> GAAA LOC_Os05g30810.2 upstream_gene_variant ; 4163.0bp to feature; MODIFIER silent_mutation Average:72.385; most accessible tissue: Minghui63 flower, score: 89.033 N N N N
vg0517886408 GAA -> GAAA LOC_Os05g30820.2 downstream_gene_variant ; 87.0bp to feature; MODIFIER silent_mutation Average:72.385; most accessible tissue: Minghui63 flower, score: 89.033 N N N N
vg0517886408 GAA -> GAAA LOC_Os05g30820.1 intron_variant ; MODIFIER silent_mutation Average:72.385; most accessible tissue: Minghui63 flower, score: 89.033 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)
vg0517886408 GAA G 0.12 0.02 -0.02 0.01 -0.01 0.0
vg0517886408 GAA GA 0.09 -0.04 -0.06 0.0 0.01 0.04
vg0517886408 GAA GAAA 0.17 0.03 -0.01 -0.02 0.05 0.15