Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000221797 [[40093163, 40093223], [40095241, 40095318], [40095817, 40096028], [40097862, 40098116]] [[40093208, 40093223], [40095241, 40095318], [40095817, 40096028], [40097862, 40097979]]
ENST00000600141 [[40093176, 40093223], [40095830, 40096028], [40097862, 40097899]] [[40093208, 40093223], [40095830, 40096028], [40097862, 40097899]]
ENST00000600546 [[40095731, 40096028], [40097862, 40098113]] None
NM_013268 [[40093168, 40093223], [40095241, 40095318], [40095817, 40096028], [40097862, 40098114]] [[40093208, 40093223], [40095241, 40095318], [40095817, 40096028], [40097862, 40097979]]
Promoter
Chrom Start End Description
chr19 40093154 40093171 CAGE_peak_1_at_LGALS13_5end
chr19 40093173 40093182 CAGE_peak_2_at_LGALS13_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I039607 39607401 39607650 0.43 [{'connected_gene': 'HNRNPL', 'score': 17.58}, {'connected_gene': 'AKT2', 'score': 15.04}, {'connected_gene': 'ZNF780A', 'score': 10.77}, {'connected_gene': 'RN7SL566P', 'score': 10.73}, {'connected_gene': 'PSMC4', 'score': 10.65}, {'connected_gene': 'FBL', 'score': 10.48}, {'connected_gene': 'ENSG00000269688', 'score': 10.16}, {'connected_gene': 'LGALS13', 'score': 0.44}, {'connected_gene': 'ENSG00000269519', 'score': 0.34}]
chr19 GH19I039605 39602841 39602990 0.43 [{'connected_gene': 'LGALS13', 'score': 550.77}, {'connected_gene': 'ZNF780B', 'score': 15.56}, {'connected_gene': 'SUPT5H', 'score': 12.04}, {'connected_gene': 'ZNF780A', 'score': 10.68}, {'connected_gene': 'ZNF546', 'score': 10.34}, {'connected_gene': 'TTC9B', 'score': 9.65}, {'connected_gene': 'CNTD2', 'score': 9.65}, {'connected_gene': 'ENSG00000269519', 'score': 0.31}]
chr19 GH19I039602 39602475 39602534 0.61 [{'connected_gene': 'LGALS13', 'score': 550.77}, {'connected_gene': 'TTC9B', 'score': 9.65}, {'connected_gene': 'CNTD2', 'score': 9.65}, {'connected_gene': 'ENSG00000269519', 'score': 0.31}]
chr19 GH19I039603 39603281 39603430 0.2 [{'connected_gene': 'LGALS13', 'score': 550.77}, {'connected_gene': 'TTC9B', 'score': 9.65}, {'connected_gene': 'CNTD2', 'score': 9.65}, {'connected_gene': 'ENSG00000269519', 'score': 0.31}]
chr19 GH19I039606 39606701 39606850 0.31 [{'connected_gene': 'LGALS13', 'score': 0.77}, {'connected_gene': 'ENSG00000269519', 'score': 0.34}]
chr19 GH19I039604 39604061 39604210 0.49 [{'connected_gene': 'LGALS13', 'score': 550.77}, {'connected_gene': 'ENSG00000269519', 'score': 0.31}]
chr19 GH19I039608 39608221 39608370 0.2 [{'connected_gene': 'LGALS13', 'score': 0.44}, {'connected_gene': 'ENSG00000269519', 'score': 0.34}]
chr19 GH19I039609 39607141 39607290 0.38 [{'connected_gene': 'LGALS13', 'score': 0.77}, {'connected_gene': 'ENSG00000269519', 'score': 0.34}]
chr19 GH19I039631 39631241 39631390 0.84 [{'connected_gene': 'ENSG00000269519', 'score': 550.77}, {'connected_gene': 'ZNF780B', 'score': 19.32}, {'connected_gene': 'SUPT5H', 'score': 17.67}, {'connected_gene': 'HNRNPL', 'score': 15.3}, {'connected_gene': 'ZNF546', 'score': 13.99}, {'connected_gene': 'EID2B', 'score': 13.68}, {'connected_gene': 'SPTBN4', 'score': 12.83}, {'connected_gene': 'PAF1', 'score': 11.84}, {'connected_gene': 'PLEKHG2', 'score': 10.76}, {'connected_gene': 'FBXO17', 'score': 9.81}, {'connected_gene': 'LGALS13', 'score': 0.31}]