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
ENST00000376873 [[96085857, 96086301], [96212385, 96212547], [96212635, 96212717], [96229484, 96229592], [96230153, 96232013]] [[96086087, 96086301], [96212385, 96212547], [96212635, 96212717], [96229484, 96229592], [96230153, 96230268]]
ENST00000299339 [[96204978, 96205227], [96212385, 96212547], [96212635, 96212717], [96229484, 96229592], [96230153, 96230501]] [[96205007, 96205227], [96212385, 96212547], [96212635, 96212717], [96229484, 96229592], [96230153, 96230268]]
ENST00000376855 [[96212403, 96212547], [96212635, 96213192]] [[96212411, 96212547], [96212635, 96212721]]
NM_001160100 [[96085852, 96086244], [96212385, 96212547], [96212635, 96212717], [96229484, 96229592], [96230153, 96232010]] [[96086087, 96086244], [96212385, 96212547], [96212635, 96212717], [96229484, 96229592], [96230153, 96230268]]
NM_182848 [[96085852, 96086301], [96212385, 96212547], [96212635, 96212717], [96229484, 96229592], [96230153, 96232010]] [[96086087, 96086301], [96212385, 96212547], [96212635, 96212717], [96229484, 96229592], [96230153, 96230268]]
NM_006984 [[96204946, 96205227], [96212385, 96212547], [96212635, 96212717], [96229484, 96229592], [96230153, 96232010]] [[96205007, 96205227], [96212385, 96212547], [96212635, 96212717], [96229484, 96229592], [96230153, 96230268]]
Promoter
Chrom Start End Description
chr13 96085847 96085864 CAGE_peak_4_at_CLDN10_5end
chr13 96085879 96085890 CAGE_peak_7_at_CLDN10_5end
chr13 96085999 96086013 CAGE_peak_5_at_CLDN10_5end
chr13 96086031 96086040 CAGE_peak_11_at_CLDN10_5end
chr13 96086045 96086052 CAGE_peak_12_at_CLDN10_5end
chr13 96086056 96086073 CAGE_peak_3_at_CLDN10_5end
chr13 96204672 96204681 CAGE_peak_10_at_CLDN10_5end
chr13 96204942 96204953 CAGE_peak_2_at_CLDN10_5end
chr13 96204961 96205001 CAGE_peak_1_at_CLDN10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I095551 95551998 95553822 1.26 [{'connected_gene': 'CLDN10', 'score': 550.13}, {'connected_gene': 'TGDS', 'score': 9.91}, {'connected_gene': 'DNAJC3', 'score': 6.15}, {'connected_gene': 'DNAJC3-AS1', 'score': 5.48}, {'connected_gene': 'GC13P095540', 'score': 0.39}, {'connected_gene': 'GC13M095580', 'score': 0.31}]
chr13 GH13I095433 95433550 95433609 0.5 [{'connected_gene': 'CLDN10', 'score': 550.77}, {'connected_gene': 'LOC105370321', 'score': 0.31}]
chr13 GH13I095485 95485000 95485601 0.98 [{'connected_gene': 'CLDN10', 'score': 11.14}, {'connected_gene': 'ABCC4', 'score': 10.17}, {'connected_gene': 'CLDN10-AS1', 'score': 0.25}]
chr13 GH13I095479 95479619 95480807 0.82 [{'connected_gene': 'CLDN10', 'score': 9.44}, {'connected_gene': 'CLDN10-AS1', 'score': 0.23}]
chr13 GH13I095456 95456571 95458165 0.66 [{'connected_gene': 'CLDN10', 'score': 0.34}, {'connected_gene': 'CLDN10-AS1', 'score': 0.18}]
chr13 GH13I095481 95481107 95481256 0.31 [{'connected_gene': 'CLDN10', 'score': 0.25}, {'connected_gene': 'CLDN10-AS1', 'score': 0.23}]
chr13 GH13I095656 95656121 95657522 0.62 [{'connected_gene': 'DNAJC3', 'score': 20.89}, {'connected_gene': 'DNAJC3-AS1', 'score': 12.08}, {'connected_gene': 'CLDN10', 'score': 9.79}, {'connected_gene': 'DZIP1', 'score': 0.39}]
chr13 GH13I095564 95564401 95565600 0.77 [{'connected_gene': 'DZIP1', 'score': 5.61}, {'connected_gene': 'CLDN10', 'score': 4.73}, {'connected_gene': 'DNAJC3', 'score': 4.62}, {'connected_gene': 'GC13M095580', 'score': 0.39}, {'connected_gene': 'GC13P095540', 'score': 0.34}]
chr13 GH13I095642 95642957 95645253 1.84 [{'connected_gene': 'DZIP1', 'score': 562.24}, {'connected_gene': 'UGGT2', 'score': 11.38}, {'connected_gene': 'DNAJC3-AS1', 'score': 10.69}, {'connected_gene': 'CLDN10', 'score': 4.31}, {'connected_gene': 'GC13M095581', 'score': 0.22}]
chr13 GH13I095403 95403458 95405016 0.96 [{'connected_gene': 'LOC105370321', 'score': 550.77}, {'connected_gene': 'CLDN10', 'score': 11.24}, {'connected_gene': 'ABCC4', 'score': 10.92}]
chr13 GH13I095478 95478147 95479400 0.95 [{'connected_gene': 'ABCC4', 'score': 10.33}, {'connected_gene': 'CLDN10', 'score': 5.25}, {'connected_gene': 'CLDN10-AS1', 'score': 0.22}]
chr13 GH13I095524 95524407 95524556 0.57 [{'connected_gene': 'CLDN10-AS1', 'score': 30.72}, {'connected_gene': 'CLDN10', 'score': 0.16}]
chr13 GH13I095530 95530247 95530496 0.69 [{'connected_gene': 'CLDN10-AS1', 'score': 0.77}, {'connected_gene': 'CLDN10', 'score': 0.15}]
chr13 GH13I095509 95509343 95510370 0.66 [{'connected_gene': 'CLDN10-AS1', 'score': 12.64}, {'connected_gene': 'CLDN10', 'score': 0.18}]
chr13 GH13I095554 95554001 95554400 0.49 [{'connected_gene': 'CLDN10-AS1', 'score': 5.76}, {'connected_gene': 'UGGT2', 'score': 4.57}, {'connected_gene': 'GC13P095540', 'score': 0.39}, {'connected_gene': 'GC13M095580', 'score': 0.34}, {'connected_gene': 'CLDN10', 'score': 0.13}]
chr13 GH13I095534 95534018 95536016 0.97 [{'connected_gene': 'CLDN10-AS1', 'score': 559.08}, {'connected_gene': 'TGDS', 'score': 23.46}, {'connected_gene': 'ABCC4', 'score': 10.32}, {'connected_gene': 'CLDN10', 'score': 10.09}, {'connected_gene': 'GC13P095540', 'score': 0.44}]
chr13 GH13I095540 95540511 95541639 0.31 [{'connected_gene': 'GC13P095540', 'score': 550.77}, {'connected_gene': 'DZIP1', 'score': 10.84}, {'connected_gene': 'CLDN10', 'score': 9.26}, {'connected_gene': 'UGGT2', 'score': 6.13}, {'connected_gene': 'DNAJC3', 'score': 4.65}, {'connected_gene': 'GC13M095580', 'score': 0.28}]