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Detailed information for vg1223327036:

Variant ID: vg1223327036 (JBrowse)Variation Type: INDEL
Chromosome: chr12Position: 23327036
Reference Allele: CACTTTGGTTTGTTAlternative Allele: C
Primary Allele: CACTTTGGTTTGTTSecondary Allele: C

Inferred Ancestral Allele : CACTTTGGTTTGTT (evidence from allele frequency in Oryza rufipogon: CACTTTGGTTTGTT: 1.00, others allele: 0.00, population size: 345. )

Flanking Sequence (100 bp) in Reference Genome:


CACCTCTGTGTGCTTGTTGGCTCCAGCTTCAGGATGTGATCCTTGATGAACTCCAGCCTGTTCAGCAGCAGAGGAAAACTAGCTACTAGAGAGAGTAAAC[CACTTTGGTTTGTT/C]
TGCCCTATGGTCTGGTGGCTTTTGCCCCTCATTTATAGGCAAGAGAGAGAGCTCTTGGGGTCACGTGATGGTGGAGCTCCCTAAAGATCCCATATTACAT

Reverse complement sequence

ATGTAATATGGGATCTTTAGGGAGCTCCACCATCACGTGACCCCAAGAGCTCTCTCTCTTGCCTATAAATGAGGGGCAAAAGCCACCAGACCATAGGGCA[AACAAACCAAAGTG/G]
GTTTACTCTCTCTAGTAGCTAGTTTTCCTCTGCTGCTGAACAGGCTGGAGTTCATCAAGGATCACATCCTGAAGCTGGAGCCAACAAGCACACAGAGGTG

Allele Frequencies:

Populations Population SizeFrequency of CACTTTGGTTTGTT(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 97.50% 2.50% 0.00% 0.00% NA
All Indica  2759 95.80% 4.20% 0.00% 0.00% NA
All Japonica  1512 100.00% 0.00% 0.00% 0.00% NA
Aus  269 100.00% 0.00% 0.00% 0.00% NA
Indica I  595 85.50% 14.50% 0.00% 0.00% NA
Indica II  465 99.80% 0.20% 0.00% 0.00% NA
Indica III  913 100.00% 0.00% 0.00% 0.00% NA
Indica Intermediate  786 96.30% 3.70% 0.00% 0.00% NA
Temperate Japonica  767 100.00% 0.00% 0.00% 0.00% NA
Tropical Japonica  504 100.00% 0.00% 0.00% 0.00% NA
Japonica Intermediate  241 100.00% 0.00% 0.00% 0.00% NA
VI/Aromatic  96 100.00% 0.00% 0.00% 0.00% NA
Intermediate  90 96.70% 3.30% 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
vg1223327036 CACTTTGGTTTGTT -> C LOC_Os12g37970.1 5_prime_UTR_variant ; 194.0bp to feature; MODIFIER silent_mutation Average:79.766; most accessible tissue: Minghui63 root, score: 89.247 N N N N
vg1223327036 CACTTTGGTTTGTT -> C LOC_Os12g37970.2 5_prime_UTR_variant ; 517.0bp to feature; MODIFIER silent_mutation Average:79.766; most accessible tissue: Minghui63 root, score: 89.247 N N N N
vg1223327036 CACTTTGGTTTGTT -> C LOC_Os12g37970.3 5_prime_UTR_variant ; 517.0bp to feature; MODIFIER silent_mutation Average:79.766; most accessible tissue: Minghui63 root, score: 89.247 N N N N
vg1223327036 CACTTTGGTTTGTT -> C LOC_Os12g37970.2 upstream_gene_variant ; 0.0bp to feature; MODIFIER silent_mutation Average:79.766; most accessible tissue: Minghui63 root, score: 89.247 N N N N
vg1223327036 CACTTTGGTTTGTT -> C LOC_Os12g37960.1 downstream_gene_variant ; 3284.0bp to feature; MODIFIER silent_mutation Average:79.766; most accessible tissue: Minghui63 root, score: 89.247 N N N N
vg1223327036 CACTTTGGTTTGTT -> C LOC_Os12g37960.2 downstream_gene_variant ; 3284.0bp to feature; MODIFIER silent_mutation Average:79.766; most accessible tissue: Minghui63 root, score: 89.247 N N N N
vg1223327036 CACTTTGGTTTGTT -> C LOC_Os12g37970.2 non_coding_transcript_variant ; MODIFIER silent_mutation Average:79.766; most accessible tissue: Minghui63 root, score: 89.247 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)
vg1223327036 CACTT* C 0.06 0.0 -0.05 0.03 -0.01 -0.01