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Detailed information for vg1105978598:

Variant ID: vg1105978598 (JBrowse)Variation Type: INDEL
Chromosome: chr11Position: 5978598
Reference Allele: GCGACAACGGCAACGGCAACGGCAAAlternative Allele: G
Primary Allele: GCGACAACGGCAACGGCAAC GGCAASecondary Allele: G

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ACCACCACCACCACCCACCTCCACTTCTACATGCACGACGCCTACACCGGCCCGGCTCCCACCGCCATGCGCGTCGTCTCCGGCCGCTCCCTGCTCGACG[GCGACAACGGCAACGGCAACGGCAA/G]
CGGCGACGACGGCTCGCCGCCGCGGCAGTTCGGCGACATCGTGGCGCTGAACAACGCGCTGACGGAGGGGCCATCCGCCGGCAGCGCGCGCGTGGGCACG

Reverse complement sequence

CGTGCCCACGCGCGCGCTGCCGGCGGATGGCCCCTCCGTCAGCGCGTTGTTCAGCGCCACGATGTCGCCGAACTGCCGCGGCGGCGAGCCGTCGTCGCCG[TTGCCGTTGCCGTTGCCGTTGTCGC/C]
CGTCGAGCAGGGAGCGGCCGGAGACGACGCGCATGGCGGTGGGAGCCGGGCCGGTGTAGGCGTCGTGCATGTAGAAGTGGAGGTGGGTGGTGGTGGTGGT

Allele Frequencies:

Populations Population SizeFrequency of GCGACAACGGCAACGGCAAC GGCAA(primary allele) Frequency of G(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 48.90% 33.50% 8.27% 9.35% NA
All Indica  2759 31.50% 43.20% 11.85% 13.48% NA
All Japonica  1512 82.90% 11.60% 2.38% 3.04% NA
Aus  269 16.70% 69.90% 8.55% 4.83% NA
Indica I  595 35.50% 37.50% 14.62% 12.44% NA
Indica II  465 22.20% 49.50% 13.12% 15.27% NA
Indica III  913 30.30% 44.70% 10.41% 14.57% NA
Indica Intermediate  786 35.20% 42.10% 10.69% 11.96% NA
Temperate Japonica  767 72.50% 18.50% 4.04% 4.95% NA
Tropical Japonica  504 96.20% 2.40% 0.60% 0.79% NA
Japonica Intermediate  241 88.40% 9.10% 0.83% 1.66% NA
VI/Aromatic  96 88.50% 8.30% 1.04% 2.08% NA
Intermediate  90 63.30% 22.20% 4.44% 10.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1105978598 GCGACAACGGCAACGGCAACGGCAA -> DEL LOC_Os11g10850.1 N frameshift_variant Average:87.171; most accessible tissue: Zhenshan97 flag leaf, score: 97.105 N N N N
vg1105978598 GCGACAACGGCAACGGCAACGGCAA -> G LOC_Os11g10850.1 disruptive_inframe_deletion ; p.Asp62_Asn69del; MODERATE inframe_variant Average:87.171; most accessible tissue: Zhenshan97 flag leaf, score: 97.105 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)
vg1105978598 GCGAC* G 0.09 0.09 0.05 -0.14 -0.14 -0.12