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Detailed information for vg1206301890:

Variant ID: vg1206301890 (JBrowse)Variation Type: INDEL
Chromosome: chr12Position: 6301890
Reference Allele: CAlternative Allele: CTGAAAT
Primary Allele: CSecondary Allele: CTGAAAT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


TTTCATTATATGCTGTTGGTTGATTAAAAGTAAACTAATAACCAACGGCGTACAGCTTATAATCATGGCACAGTAGTAGGCGGTGGGCATGAATATTGGC[C/CTGAAAT]
TGGATTGCAGGTCGGATACGGAGTCGGAAGCAGTCCACTTTGAAGCAACACCCTCGCGGCGGAGGCCATCACCGGCGCCTCCTGCAGCGCCGCCGCCATG

Reverse complement sequence

CATGGCGGCGGCGCTGCAGGAGGCGCCGGTGATGGCCTCCGCCGCGAGGGTGTTGCTTCAAAGTGGACTGCTTCCGACTCCGTATCCGACCTGCAATCCA[G/ATTTCAG]
GCCAATATTCATGCCCACCGCCTACTACTGTGCCATGATTATAAGCTGTACGCCGTTGGTTATTAGTTTACTTTTAATCAACCAACAGCATATAATGAAA

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of CTGAAAT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 72.10% 0.50% 4.53% 22.85% NA
All Indica  2759 89.10% 0.30% 3.55% 7.07% NA
All Japonica  1512 50.50% 0.10% 2.98% 46.43% NA
Aus  269 15.20% 1.50% 24.91% 58.36% NA
Indica I  595 90.80% 0.00% 0.50% 8.74% NA
Indica II  465 95.30% 0.40% 2.15% 2.15% NA
Indica III  913 89.30% 0.70% 5.59% 4.49% NA
Indica Intermediate  786 83.80% 0.10% 4.33% 11.70% NA
Temperate Japonica  767 60.50% 0.10% 4.17% 35.20% NA
Tropical Japonica  504 32.30% 0.00% 1.79% 65.87% NA
Japonica Intermediate  241 56.40% 0.40% 1.66% 41.49% NA
VI/Aromatic  96 86.50% 9.40% 1.04% 3.12% NA
Intermediate  90 71.10% 0.00% 3.33% 25.56% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg1206301890 C -> DEL LOC_Os12g11620.1 N frameshift_variant Average:69.439; most accessible tissue: Zhenshan97 flag leaf, score: 83.205 N N N N
vg1206301890 C -> CTGAAAT LOC_Os12g11620.1 inframe_insertion ; p.Pro57_Gly58insIleSer; MODERATE inframe_variant Average:69.439; most accessible tissue: Zhenshan97 flag leaf, score: 83.205 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)
vg1206301890 C CTGAA* -0.07 -0.11 -0.12 -0.11 -0.12 -0.1