Search for Variation information by Variation ID:

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

Detailed information for vg0427576932:

Variant ID: vg0427576932 (JBrowse)Variation Type: INDEL
Chromosome: chr04Position: 27576932
Reference Allele: CTGAlternative Allele: CTGTG,C,CTGTGTG
Primary Allele: CTGTGSecondary Allele: CTG

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AGAGGAAGGTGGAGAAGAACTCGGCGAAGTACGCCCGGAGCGCCGGCGGCGAGAAGCAGCGCTTCATGTTGGCACAGATGTTCGCCATTGCAAGTTTACC[CTG/CTGTG,C,CTGTGTG]
TGTGTGTGTGTGACACTGTGTTTACAGAGCAGTGAAGAACACGATTACACGAATTCGCACAGTTCTTCACTACTCGGGGTGTCACAGACTTTATATAGAA

Reverse complement sequence

TTCTATATAAAGTCTGTGACACCCCGAGTAGTGAAGAACTGTGCGAATTCGTGTAATCGTGTTCTTCACTGCTCTGTAAACACAGTGTCACACACACACA[CAG/CACAG,G,CACACAG]
GGTAAACTTGCAATGGCGAACATCTGTGCCAACATGAAGCGCTGCTTCTCGCCGCCGGCGCTCCGGGCGTACTTCGCCGAGTTCTTCTCCACCTTCCTCT

Allele Frequencies:

Populations Population SizeFrequency of CTGTG(primary allele) Frequency of CTG(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 52.90% 46.50% 0.13% 0.40% CTGTGTG: 0.06%
All Indica  2759 82.30% 16.90% 0.18% 0.58% CTGTGTG: 0.11%
All Japonica  1512 0.60% 99.30% 0.00% 0.13% NA
Aus  269 70.30% 29.70% 0.00% 0.00% NA
Indica I  595 78.20% 21.00% 0.34% 0.50% NA
Indica II  465 91.20% 8.40% 0.00% 0.43% NA
Indica III  913 82.40% 17.00% 0.11% 0.55% NA
Indica Intermediate  786 80.00% 18.60% 0.25% 0.76% CTGTGTG: 0.38%
Temperate Japonica  767 0.50% 99.50% 0.00% 0.00% NA
Tropical Japonica  504 0.60% 99.20% 0.00% 0.20% NA
Japonica Intermediate  241 0.80% 98.80% 0.00% 0.41% NA
VI/Aromatic  96 1.00% 99.00% 0.00% 0.00% NA
Intermediate  90 35.60% 62.20% 1.11% 1.11% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0427576932 CTG -> C LOC_Os04g46490.1 5_prime_UTR_variant ; 14.0bp to feature; MODIFIER N Average:80.784; most accessible tissue: Zhenshan97 flower, score: 87.906 N N N N
vg0427576932 CTG -> C LOC_Os04g46480.1 upstream_gene_variant ; 4217.0bp to feature; MODIFIER N Average:80.784; most accessible tissue: Zhenshan97 flower, score: 87.906 N N N N
vg0427576932 CTG -> C LOC_Os04g46480.2 upstream_gene_variant ; 4217.0bp to feature; MODIFIER N Average:80.784; most accessible tissue: Zhenshan97 flower, score: 87.906 N N N N
vg0427576932 CTG -> DEL N N silent_mutation Average:80.784; most accessible tissue: Zhenshan97 flower, score: 87.906 N N N N
vg0427576932 CTG -> CTGTG LOC_Os04g46490.1 5_prime_UTR_variant ; 16.0bp to feature; MODIFIER silent_mutation Average:80.784; most accessible tissue: Zhenshan97 flower, score: 87.906 N N N N
vg0427576932 CTG -> CTGTG LOC_Os04g46480.1 upstream_gene_variant ; 4219.0bp to feature; MODIFIER silent_mutation Average:80.784; most accessible tissue: Zhenshan97 flower, score: 87.906 N N N N
vg0427576932 CTG -> CTGTG LOC_Os04g46480.2 upstream_gene_variant ; 4219.0bp to feature; MODIFIER silent_mutation Average:80.784; most accessible tissue: Zhenshan97 flower, score: 87.906 N N N N
vg0427576932 CTG -> CTGTGTG LOC_Os04g46490.1 5_prime_UTR_variant ; 16.0bp to feature; MODIFIER silent_mutation Average:80.784; most accessible tissue: Zhenshan97 flower, score: 87.906 N N N N
vg0427576932 CTG -> CTGTGTG LOC_Os04g46480.1 upstream_gene_variant ; 4219.0bp to feature; MODIFIER silent_mutation Average:80.784; most accessible tissue: Zhenshan97 flower, score: 87.906 N N N N
vg0427576932 CTG -> CTGTGTG LOC_Os04g46480.2 upstream_gene_variant ; 4219.0bp to feature; MODIFIER silent_mutation Average:80.784; most accessible tissue: Zhenshan97 flower, score: 87.906 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)
vg0427576932 CTG C -0.2 -0.09 -0.11 -0.12 -0.21 -0.26
vg0427576932 CTG CTGTG 0.09 0.14 0.09 0.08 0.07 0.04
vg0427576932 CTG CTGTG* 0.26 0.17 0.11 0.14 0.21 0.22