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
ENST00000358430 [[139561197, 139564451], [139565731, 139565827], [139568953, 139569046], [139576700, 139576775], [139581454, 139581574], [139583715, 139583910], [139591592, 139591763], [139597966, 139598058], [139609612, 139610050], [139613057, 139613276]] [[139563662, 139564451], [139565731, 139565827], [139568953, 139569046], [139576700, 139576775], [139581454, 139581574], [139583715, 139583910], [139591592, 139591763], [139597966, 139598058], [139609612, 139610036]]
ENST00000367652 [[139576516, 139576775], [139581454, 139581574], [139583715, 139583734]] [[139576516, 139576775], [139581454, 139581574], [139583715, 139583734]]
NM_153235 [[139561197, 139564451], [139565731, 139565827], [139568953, 139569046], [139576700, 139576775], [139581454, 139581574], [139583715, 139583910], [139591592, 139591763], [139597966, 139598058], [139609612, 139610050], [139613057, 139613208]] [[139563662, 139564451], [139565731, 139565827], [139568953, 139569046], [139576700, 139576775], [139581454, 139581574], [139583715, 139583910], [139591592, 139591763], [139597966, 139598058], [139609612, 139610036]]
Promoter
Chrom Start End Description
chr6 139592240 139592247 CAGE_peak_8_at_TXLNB_5end
chr6 139613079 139613086 CAGE_peak_5_at_TXLNB_5end
chr6 139613101 139613118 CAGE_peak_2_at_TXLNB_5end
chr6 139613125 139613190 CAGE_peak_1_at_TXLNB_5end
chr6 139613269 139613280 CAGE_peak_3_at_TXLNB_5end
chr6 139613293 139613302 CAGE_peak_4_at_TXLNB_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I139194 139194787 139195204 0.38 [{'connected_gene': 'ABRACL', 'score': 6.47}, {'connected_gene': 'ENSG00000231329', 'score': 0.26}, {'connected_gene': 'HECA', 'score': 0.22}, {'connected_gene': 'ENSG00000272446', 'score': 0.18}, {'connected_gene': 'TXLNB', 'score': 0.13}]
chr6 GH06I139175 139175444 139175741 0.74 [{'connected_gene': 'HECA', 'score': 12.12}, {'connected_gene': 'REPS1', 'score': 10.96}, {'connected_gene': 'ABRACL', 'score': 6.72}, {'connected_gene': 'ENSG00000231329', 'score': 0.21}, {'connected_gene': 'ENSG00000272446', 'score': 0.15}, {'connected_gene': 'TXLNB', 'score': 0.11}]
chr6 GH06I139172 139172146 139173741 0.63 [{'connected_gene': 'HECA', 'score': 17.69}, {'connected_gene': 'REPS1', 'score': 10.96}, {'connected_gene': 'ENSG00000231329', 'score': 0.2}, {'connected_gene': 'ENSG00000272446', 'score': 0.15}, {'connected_gene': 'TXLNB', 'score': 0.1}]
chr6 GH06I139171 139171065 139171835 0.4 [{'connected_gene': 'HECA', 'score': 12.14}, {'connected_gene': 'REPS1', 'score': 10.96}, {'connected_gene': 'ENSG00000231329', 'score': 0.2}, {'connected_gene': 'ENSG00000272446', 'score': 0.14}, {'connected_gene': 'TXLNB', 'score': 0.1}]
chr6 GH06I139131 139131601 139137542 2.4 [{'connected_gene': 'HECA', 'score': 556.68}, {'connected_gene': 'ABRACL', 'score': 6.65}, {'connected_gene': 'TXLNB', 'score': 4.78}, {'connected_gene': 'ECT2L', 'score': 4.33}, {'connected_gene': 'GC06P139052', 'score': 0.18}]
chr6 GH06I139146 139146827 139152401 1.26 [{'connected_gene': 'HECA', 'score': 6.14}, {'connected_gene': 'TXLNB', 'score': 4.79}, {'connected_gene': 'ECT2L', 'score': 4.33}, {'connected_gene': 'ENSG00000231329', 'score': 0.16}]
chr6 GH06I139230 139230268 139231273 1.03 [{'connected_gene': 'HECA', 'score': 10.61}, {'connected_gene': 'ENSG00000231329', 'score': 0.44}, {'connected_gene': 'ENSG00000272446', 'score': 0.25}, {'connected_gene': 'TXLNB', 'score': 0.16}]
chr6 GH06I139159 139159555 139163363 1.17 [{'connected_gene': 'HECA', 'score': 5.81}, {'connected_gene': 'ENSG00000231329', 'score': 0.18}, {'connected_gene': 'ENSG00000272446', 'score': 0.13}, {'connected_gene': 'TXLNB', 'score': 0.1}]
chr6 GH06I139164 139164124 139164273 0.4 [{'connected_gene': 'HECA', 'score': 5.05}, {'connected_gene': 'ENSG00000231329', 'score': 0.18}, {'connected_gene': 'ENSG00000272446', 'score': 0.14}, {'connected_gene': 'TXLNB', 'score': 0.1}]
chr6 GH06I139165 139165484 139165633 0.51 [{'connected_gene': 'HECA', 'score': 0.29}, {'connected_gene': 'ENSG00000231329', 'score': 0.19}, {'connected_gene': 'ENSG00000272446', 'score': 0.14}, {'connected_gene': 'TXLNB', 'score': 0.1}]
chr6 GH06I139168 139168311 139169240 0.2 [{'connected_gene': 'HECA', 'score': 11.08}, {'connected_gene': 'LOC102723690', 'score': 9.33}, {'connected_gene': 'ENSG00000231329', 'score': 0.19}, {'connected_gene': 'ENSG00000272446', 'score': 0.14}, {'connected_gene': 'TXLNB', 'score': 0.1}]
chr6 GH06I139253 139253339 139254891 0.2 [{'connected_gene': 'TXLNB', 'score': 9.91}, {'connected_gene': 'REPS1', 'score': 9.72}, {'connected_gene': 'LOC102723690', 'score': 0.77}, {'connected_gene': 'ENSG00000272446', 'score': 0.34}]
chr6 GH06I139257 139257268 139257610 0.45 [{'connected_gene': 'TXLNB', 'score': 9.44}, {'connected_gene': 'CCDC28A', 'score': 1.58}, {'connected_gene': 'LOC102723690', 'score': 0.44}, {'connected_gene': 'ENSG00000272446', 'score': 0.37}]
chr6 GH06I139322 139322727 139326132 1.4 [{'connected_gene': 'TXLNB', 'score': 550.77}, {'connected_gene': 'LOC102723690', 'score': 11.48}, {'connected_gene': 'LINC01625', 'score': 4.79}, {'connected_gene': 'HECA', 'score': 4.29}, {'connected_gene': 'ABRACL', 'score': 1.24}, {'connected_gene': 'LOC100129844', 'score': 0.39}]
chr6 GH06I139289 139289364 139294020 2.15 [{'connected_gene': 'TXLNB', 'score': 607.69}, {'connected_gene': 'LOC102723690', 'score': 11.78}, {'connected_gene': 'CITED2', 'score': 10.11}, {'connected_gene': 'HECA', 'score': 8.48}, {'connected_gene': 'REPS1', 'score': 2.15}, {'connected_gene': 'ABRACL', 'score': 1.58}, {'connected_gene': 'ENSG00000272446', 'score': 0.39}]
chr6 GH06I139262 139262061 139263847 1.02 [{'connected_gene': 'TXLNB', 'score': 11.43}, {'connected_gene': 'ENSG00000272446', 'score': 0.39}, {'connected_gene': 'LOC102723690', 'score': 0.39}]
chr6 GH06I139279 139279013 139280698 0.99 [{'connected_gene': 'TXLNB', 'score': 47.83}, {'connected_gene': 'ENSG00000272446', 'score': 0.77}, {'connected_gene': 'LOC102723690', 'score': 0.31}]
chr6 GH06I139285 139285419 139286879 0.31 [{'connected_gene': 'TXLNB', 'score': 48.57}, {'connected_gene': 'ENSG00000272446', 'score': 0.44}, {'connected_gene': 'LOC102723690', 'score': 0.28}]
chr6 GH06I139243 139243137 139245692 0.38 [{'connected_gene': 'TXLNB', 'score': 6.5}, {'connected_gene': 'ENSG00000231329', 'score': 0.77}, {'connected_gene': 'LOC102723690', 'score': 0.44}, {'connected_gene': 'ENSG00000272446', 'score': 0.29}]
chr6 GH06I139309 139308384 139308533 0.58 [{'connected_gene': 'TXLNB', 'score': 0.37}, {'connected_gene': 'ENSG00000272446', 'score': 0.29}]
chr6 GH06I139308 139308600 139309673 1.26 [{'connected_gene': 'TXLNB', 'score': 7.88}, {'connected_gene': 'ENSG00000272446', 'score': 0.29}]
chr6 GH06I139138 139138676 139140333 0.2 [{'connected_gene': 'LOC102723690', 'score': 9.82}, {'connected_gene': 'REPS1', 'score': 9.72}, {'connected_gene': 'HECA', 'score': 6.49}, {'connected_gene': 'TXLNB', 'score': 4.78}, {'connected_gene': 'ECT2L', 'score': 4.33}, {'connected_gene': 'ENSG00000231329', 'score': 0.15}]
chr6 GH06I139250 139250204 139252740 0.97 [{'connected_gene': 'LOC102723690', 'score': 550.77}, {'connected_gene': 'REPS1', 'score': 9.72}, {'connected_gene': 'TXLNB', 'score': 9.44}, {'connected_gene': 'ENSG00000272446', 'score': 0.31}]
chr6 GH06I139185 139185237 139187345 0.31 [{'connected_gene': 'LOC102723690', 'score': 9.56}, {'connected_gene': 'ABRACL', 'score': 6.19}, {'connected_gene': 'HECA', 'score': 5.29}, {'connected_gene': 'TXLNB', 'score': 4.75}, {'connected_gene': 'ENSG00000231329', 'score': 0.23}, {'connected_gene': 'ENSG00000272446', 'score': 0.16}]
chr6 GH06I139183 139183194 139185100 0.31 [{'connected_gene': 'LOC102723690', 'score': 9.55}, {'connected_gene': 'HECA', 'score': 5.9}, {'connected_gene': 'ENSG00000231329', 'score': 0.22}, {'connected_gene': 'ENSG00000272446', 'score': 0.16}, {'connected_gene': 'TXLNB', 'score': 0.12}]
chr6 GH06I139312 139312427 139315193 0.66 [{'connected_gene': 'LOC102723690', 'score': 10.75}, {'connected_gene': 'TXLNB', 'score': 6.67}, {'connected_gene': 'ENSG00000272446', 'score': 0.28}]
chr6 GH06I139321 139321364 139321612 0.22 [{'connected_gene': 'LOC102723690', 'score': 11.41}, {'connected_gene': 'TXLNB', 'score': 2.11}, {'connected_gene': 'ENSG00000272446', 'score': 0.26}]
chr6 GH06I139303 139303863 139303877 0.22 [{'connected_gene': 'LOC102723690', 'score': 10.23}, {'connected_gene': 'TXLNB', 'score': 0.34}, {'connected_gene': 'ENSG00000272446', 'score': 0.31}]
chr6 GH06I139296 139296601 139297213 0.71 [{'connected_gene': 'LOC102723690', 'score': 11.43}, {'connected_gene': 'TXLNB', 'score': 8.61}, {'connected_gene': 'ENSG00000272446', 'score': 0.37}]
chr6 GH06I139255 139255910 139256333 0.62 [{'connected_gene': 'LOC102723690', 'score': 0.44}, {'connected_gene': 'ENSG00000272446', 'score': 0.34}, {'connected_gene': 'TXLNB', 'score': 0.2}]
chr6 GH06I139297 139296064 139296213 0.66 [{'connected_gene': 'LOC102723690', 'score': 11.23}, {'connected_gene': 'ENSG00000272446', 'score': 0.37}, {'connected_gene': 'TXLNB', 'score': 0.31}]
chr6 GH06I139315 139315938 139317583 0.31 [{'connected_gene': 'LOC102723690', 'score': 10.25}, {'connected_gene': 'TXLNB', 'score': 0.44}, {'connected_gene': 'ENSG00000272446', 'score': 0.28}]
chr6 GH06I139256 139256710 139256863 0.4 [{'connected_gene': 'LOC102723690', 'score': 0.44}, {'connected_gene': 'ENSG00000272446', 'score': 0.34}, {'connected_gene': 'TXLNB', 'score': 0.2}]
chr6 GH06I139334 139334247 139339750 1.43 [{'connected_gene': 'LOC100129844', 'score': 559.2}, {'connected_gene': 'LOC102723690', 'score': 11.23}, {'connected_gene': 'HECA', 'score': 3.41}, {'connected_gene': 'TXLNB', 'score': 0.39}]
chr6 GH06I139218 139218778 139220657 1.3 [{'connected_gene': 'ENSG00000231329', 'score': 0.37}, {'connected_gene': 'ENSG00000272446', 'score': 0.22}, {'connected_gene': 'HECA', 'score': 0.18}, {'connected_gene': 'TXLNB', 'score': 0.15}]
chr6 GH06I139238 139238798 139239933 0.2 [{'connected_gene': 'ENSG00000231329', 'score': 550.77}, {'connected_gene': 'ENSG00000272446', 'score': 0.28}, {'connected_gene': 'TXLNB', 'score': 0.18}, {'connected_gene': 'HECA', 'score': 0.15}]
chr6 GH06I139277 139277299 139278718 0.78 [{'connected_gene': 'ENSG00000272446', 'score': 550.77}, {'connected_gene': 'TXLNB', 'score': 27.39}, {'connected_gene': 'LOC102723690', 'score': 0.31}]
chr6 GH06I139240 139240204 139241705 0.94 [{'connected_gene': 'ENSG00000231329', 'score': 550.77}, {'connected_gene': 'TXLNB', 'score': 6.48}, {'connected_gene': 'LOC102723690', 'score': 0.44}, {'connected_gene': 'ENSG00000272446', 'score': 0.28}]
chr6 GH06I139239 139239984 139239992 0.2 [{'connected_gene': 'ENSG00000231329', 'score': 550.77}, {'connected_gene': 'LOC102723690', 'score': 0.39}, {'connected_gene': 'ENSG00000272446', 'score': 0.28}, {'connected_gene': 'TXLNB', 'score': 0.18}]
chr6 GH06I139270 139270924 139271600 0.94 [{'connected_gene': 'ENSG00000272446', 'score': 0.44}, {'connected_gene': 'LOC102723690', 'score': 0.34}, {'connected_gene': 'TXLNB', 'score': 0.23}]
chr6 GH06I139271 139271801 139272000 0.51 [{'connected_gene': 'ENSG00000272446', 'score': 0.44}, {'connected_gene': 'LOC102723690', 'score': 0.34}, {'connected_gene': 'TXLNB', 'score': 0.23}]
chr6 GH06I139276 139276491 139277139 0.51 [{'connected_gene': 'ENSG00000272446', 'score': 550.77}, {'connected_gene': 'LOC102723690', 'score': 0.31}, {'connected_gene': 'TXLNB', 'score': 0.25}]