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Detailed information for vg1105978492:

Variant ID: vg1105978492 (JBrowse)Variation Type: INDEL
Chromosome: chr11Position: 5978492
Reference Allele: TCCACCACCAAlternative Allele: TCCACCACCACCA,T,TCCA,TCCACCACCACCACCA
Primary Allele: TCCACCACCACCASecondary Allele: TCCACCACCA

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


CCATAGCCCCACATCAAGCTCGACAATGGCGTCCCTCTCCTCCGTCCTCGTCGGCTGCTTCCTCCTCGCAGCCGCCGTCTTCCTCCACCGCAACGGCGCC[TCCACCACCA/TCCACCACCACCA,T,TCCA,TCCACCACCACCACCA]
CCACCACCACCCACCTCCACTTCTACATGCACGACGCCTACACCGGCCCGGCTCCCACCGCCATGCGCGTCGTCTCCGGCCGCTCCCTGCTCGACGGCGA

Reverse complement sequence

TCGCCGTCGAGCAGGGAGCGGCCGGAGACGACGCGCATGGCGGTGGGAGCCGGGCCGGTGTAGGCGTCGTGCATGTAGAAGTGGAGGTGGGTGGTGGTGG[TGGTGGTGGA/TGGTGGTGGTGGA,A,TGGA,TGGTGGTGGTGGTGGA]
GGCGCCGTTGCGGTGGAGGAAGACGGCGGCTGCGAGGAGGAAGCAGCCGACGAGGACGGAGGAGAGGGACGCCATTGTCGAGCTTGATGTGGGGCTATGG

Allele Frequencies:

Populations Population SizeFrequency of TCCACCACCACCA(primary allele) Frequency of TCCACCACCA(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 50.90% 47.90% 1.08% 0.00% TCCA: 0.11%; TCCACCACCACCACCA: 0.02%
All Indica  2759 68.30% 30.10% 1.41% 0.00% TCCA: 0.11%; TCCACCACCACCACCA: 0.04%
All Japonica  1512 16.50% 83.10% 0.46% 0.00% NA
Aus  269 83.30% 14.50% 1.49% 0.00% TCCA: 0.74%
Indica I  595 65.40% 31.80% 2.69% 0.00% TCCA: 0.17%
Indica II  465 77.60% 21.10% 1.29% 0.00% NA
Indica III  913 69.20% 30.70% 0.11% 0.00% NA
Indica Intermediate  786 64.00% 33.60% 2.04% 0.00% TCCA: 0.25%; TCCACCACCACCACCA: 0.13%
Temperate Japonica  767 26.10% 73.00% 0.91% 0.00% NA
Tropical Japonica  504 3.80% 96.20% 0.00% 0.00% NA
Japonica Intermediate  241 12.40% 87.60% 0.00% 0.00% NA
VI/Aromatic  96 12.50% 87.50% 0.00% 0.00% NA
Intermediate  90 38.90% 60.00% 1.11% 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
vg1105978492 TCCACCACCA -> TCCACCACCACCA LOC_Os11g10850.1 inframe_insertion ; p.Thr32dup; MODERATE inframe_variant Average:89.081; most accessible tissue: Zhenshan97 flag leaf, score: 95.866 N N N N
vg1105978492 TCCACCACCA -> T LOC_Os11g10850.1 inframe_deletion ; p.Thr30_Thr32del; MODERATE N Average:89.081; most accessible tissue: Zhenshan97 flag leaf, score: 95.866 N N N N
vg1105978492 TCCACCACCA -> T LOC_Os11g10860.1 upstream_gene_variant ; 2271.0bp to feature; MODIFIER N Average:89.081; most accessible tissue: Zhenshan97 flag leaf, score: 95.866 N N N N
vg1105978492 TCCACCACCA -> T LOC_Os11g10840.1 downstream_gene_variant ; 3970.0bp to feature; MODIFIER N Average:89.081; most accessible tissue: Zhenshan97 flag leaf, score: 95.866 N N N N
vg1105978492 TCCACCACCA -> TCCACCACCACCACCA LOC_Os11g10850.1 inframe_insertion ; p.Thr31_Thr32dup; MODERATE inframe_variant Average:89.081; most accessible tissue: Zhenshan97 flag leaf, score: 95.866 N N N N
vg1105978492 TCCACCACCA -> TCCA LOC_Os11g10850.1 inframe_deletion ; p.Thr31_Thr32del; MODERATE inframe_variant Average:89.081; most accessible tissue: Zhenshan97 flag leaf, score: 95.866 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)
vg1105978492 TCCAC* T 0.07 -0.01 -0.03 -0.09 -0.04 -0.07
vg1105978492 TCCAC* TCCA -0.02 0.02 -0.01 -0.08 -0.06 -0.09
vg1105978492 TCCAC* TCCAC* 0.19 0.05 0.02 0.09 0.11 0.06