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Detailed information for vg0223609382:

Variant ID: vg0223609382 (JBrowse)Variation Type: INDEL
Chromosome: chr02Position: 23609382
Reference Allele: CCGGCGGCGGAlternative Allele: C
Primary Allele: CCGGCGGCGGSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


ATATTCATACGTTAGAAGTCAAAAAAATACGGAGAAATCTTCATCTCTCCCTCTGTCACTGCCGGCCTCCGGCGCGGCCGTCTCTACGGCCGCCGTCTCG[CCGGCGGCGG/C]
CGGCGGTCGACGCAGCGAACGCCTCGTGCAGCACCTTCTCCACGTCGAGCGCCTCGGCGGCGGCGCCCGCGTCGTCGTCGTCGGGCGTCGGGATGAACGG

Reverse complement sequence

CCGTTCATCCCGACGCCCGACGACGACGACGCGGGCGCCGCCGCCGAGGCGCTCGACGTGGAGAAGGTGCTGCACGAGGCGTTCGCTGCGTCGACCGCCG[CCGCCGCCGG/G]
CGAGACGGCGGCCGTAGAGACGGCCGCGCCGGAGGCCGGCAGTGACAGAGGGAGAGATGAAGATTTCTCCGTATTTTTTTGACTTCTAACGTATGAATAT

Allele Frequencies:

Populations Population SizeFrequency of CCGGCGGCGG(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 60.80% 38.70% 0.44% 0.00% NA
All Indica  2759 39.00% 60.30% 0.69% 0.00% NA
All Japonica  1512 96.60% 3.40% 0.00% 0.00% NA
Aus  269 70.60% 29.00% 0.37% 0.00% NA
Indica I  595 48.90% 49.60% 1.51% 0.00% NA
Indica II  465 34.60% 64.90% 0.43% 0.00% NA
Indica III  913 32.10% 67.80% 0.11% 0.00% NA
Indica Intermediate  786 42.20% 56.90% 0.89% 0.00% NA
Temperate Japonica  767 98.60% 1.40% 0.00% 0.00% NA
Tropical Japonica  504 92.90% 7.10% 0.00% 0.00% NA
Japonica Intermediate  241 97.90% 2.10% 0.00% 0.00% NA
VI/Aromatic  96 86.50% 12.50% 1.04% 0.00% NA
Intermediate  90 72.20% 27.80% 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
vg0223609382 CCGGCGGCGG -> C LOC_Os02g39090.1 disruptive_inframe_deletion ; p.Ala418_Ala420del; MODERATE inframe_variant Average:78.805; most accessible tissue: Minghui63 panicle, score: 91.41 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)
vg0223609382 CCGGC* C 0.19 0.15 0.32 -0.19 0.03 0.14