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Detailed information for vg0625946809:

Variant ID: vg0625946809 (JBrowse)Variation Type: INDEL
Chromosome: chr06Position: 25946809
Reference Allele: CGCGGCTAlternative Allele: C
Primary Allele: CSecondary Allele: CGCGGCT

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


GGAGCTCCAGGAGCACCATGCCGAAGGAGTAGACGTCCCACTTGGTGTTCGGCCTGAGGTTCTTGAGGCACTCCGGCGCCTGGTACGGCGGCGGCGCGGC[CGCGGCT/C]
GCGGCCGACGTCGCCGCAGACGACGACCCGCATGGGCTGGCGCCGGCGCCGGGCATCTGGGACAGGTCGGGCAGGCTGCTCGTCGAGTGCATCGAGCGCT

Reverse complement sequence

AGCGCTCGATGCACTCGACGAGCAGCCTGCCCGACCTGTCCCAGATGCCCGGCGCCGGCGCCAGCCCATGCGGGTCGTCGTCTGCGGCGACGTCGGCCGC[AGCCGCG/G]
GCCGCGCCGCCGCCGTACCAGGCGCCGGAGTGCCTCAAGAACCTCAGGCCGAACACCAAGTGGGACGTCTACTCCTTCGGCATGGTGCTCCTGGAGCTCC

Allele Frequencies:

Populations Population SizeFrequency of C(primary allele) Frequency of CGCGGCT(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 61.90% 38.10% 0.02% 0.00% NA
All Indica  2759 96.30% 3.70% 0.00% 0.00% NA
All Japonica  1512 0.90% 99.00% 0.07% 0.00% NA
Aus  269 66.90% 33.10% 0.00% 0.00% NA
Indica I  595 99.70% 0.30% 0.00% 0.00% NA
Indica II  465 93.30% 6.70% 0.00% 0.00% NA
Indica III  913 99.30% 0.70% 0.00% 0.00% NA
Indica Intermediate  786 92.00% 8.00% 0.00% 0.00% NA
Temperate Japonica  767 1.00% 98.80% 0.13% 0.00% NA
Tropical Japonica  504 1.00% 99.00% 0.00% 0.00% NA
Japonica Intermediate  241 0.40% 99.60% 0.00% 0.00% NA
VI/Aromatic  96 31.20% 68.80% 0.00% 0.00% NA
Intermediate  90 47.80% 52.20% 0.00% 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
vg0625946809 CGCGGCT -> C LOC_Os06g43170.1 disruptive_inframe_deletion ; p.Ala746_Ala747del; MODERATE inframe_variant Average:90.721; most accessible tissue: Zhenshan97 panicle, score: 95.903 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)
vg0625946809 CGCGG* C -0.14 -0.16 -0.11 0.01 -0.14 -0.23