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Detailed information for vg0114587113:

Variant ID: vg0114587113 (JBrowse)Variation Type: INDEL
Chromosome: chr01Position: 14587113
Reference Allele: CAAACAAGACTTTAGTAlternative Allele: C
Primary Allele: CAAACAAGACTTTAGTSecondary Allele: C

Inferred Ancestral Allele: Not determined.

Flanking Sequence (100 bp) in Reference Genome:


AAATGATTCATCCAAATATTGTCAACATAATCGCAGATACAGATTAATGAATTTGTGGACTTAGAAATACCTAGCTCCTAAAAACCTTCGATAGTTGTGC[CAAACAAGACTTTAGT/C]
AAGCTTTAAGAATGGGACACTCCCATTAAGCAAAACTGTGCAAAATTCATACAGCACGAGTGCAATTATCAATCGTACCATTATTGCGCTGCTGTCCTGT

Reverse complement sequence

ACAGGACAGCAGCGCAATAATGGTACGATTGATAATTGCACTCGTGCTGTATGAATTTTGCACAGTTTTGCTTAATGGGAGTGTCCCATTCTTAAAGCTT[ACTAAAGTCTTGTTTG/G]
GCACAACTATCGAAGGTTTTTAGGAGCTAGGTATTTCTAAGTCCACAAATTCATTAATCTGTATCTGCGATTATGTTGACAATATTTGGATGAATCATTT

Allele Frequencies:

Populations Population SizeFrequency of CAAACAAGACTTTAGT(primary allele) Frequency of C(secondary allele) Frequency of N Frequency of DEL Frequency of others Allele
All  4726 61.40% 4.30% 2.58% 31.74% NA
All Indica  2759 41.10% 7.40% 2.79% 48.75% NA
All Japonica  1512 97.10% 0.00% 1.85% 1.06% NA
Aus  269 54.60% 0.00% 4.46% 40.89% NA
Indica I  595 10.90% 25.00% 1.85% 62.18% NA
Indica II  465 65.40% 3.20% 1.51% 29.89% NA
Indica III  913 44.90% 0.10% 2.85% 52.14% NA
Indica Intermediate  786 45.20% 4.80% 4.20% 45.80% NA
Temperate Japonica  767 98.80% 0.00% 0.13% 1.04% NA
Tropical Japonica  504 93.80% 0.00% 5.16% 0.99% NA
Japonica Intermediate  241 98.30% 0.00% 0.41% 1.24% NA
VI/Aromatic  96 84.40% 0.00% 4.17% 11.46% NA
Intermediate  90 77.80% 1.10% 1.11% 20.00% NA

Allele Effect:

Var ID Var Locus snpEff Annotation CooVar Annotation Chromatin Accessibility Score PolyPhen-2 Effect PolyPhen-2 Score SIFT Effect SIFT Score
vg0114587113 CAAACAAGACTTTAGT -> DEL N N silent_mutation Average:60.793; most accessible tissue: Zhenshan97 young leaf, score: 76.44 N N N N
vg0114587113 CAAACAAGACTTTAGT -> C LOC_Os01g25740.1 3_prime_UTR_variant ; 421.0bp to feature; MODIFIER silent_mutation Average:60.793; most accessible tissue: Zhenshan97 young leaf, score: 76.44 N N N N
vg0114587113 CAAACAAGACTTTAGT -> C LOC_Os01g25730.1 downstream_gene_variant ; 3736.0bp to feature; MODIFIER silent_mutation Average:60.793; most accessible tissue: Zhenshan97 young leaf, score: 76.44 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)
vg0114587113 CAAAC* C 0.4 0.55 0.66 0.15 0.23 0.22