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
ENST00000367660 [[139349818, 139350012], [139355291, 139355358], [139363855, 139364439]] [[139355297, 139355358], [139363855, 139364040]]
ENST00000461027 [[139349978, 139350012], [139355291, 139355713]] [[139355297, 139355501]]
NM_021243 [[139349818, 139350012], [139355291, 139355358], [139363855, 139364439]] [[139355297, 139355358], [139363855, 139364040]]
Promoter
Chrom Start End Description
chr6 139349586 139349595 CAGE_peak_7_at_C6orf115_5end
chr6 139349616 139349629 CAGE_peak_5_at_C6orf115_5end
chr6 139349636 139349663 CAGE_peak_3_at_C6orf115_5end
chr6 139349817 139349899 CAGE_peak_1_at_C6orf115_5end
chr6 139349903 139349944 CAGE_peak_2_at_C6orf115_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I138957 138957428 138959199 1.03 [{'connected_gene': 'REPS1', 'score': 19.53}, {'connected_gene': 'ABRACL', 'score': 6.06}, {'connected_gene': 'ENSG00000220600', 'score': 0.18}]
chr6 GH06I138969 138969886 138974315 1.25 [{'connected_gene': 'REPS1', 'score': 7.81}, {'connected_gene': 'ABRACL', 'score': 5.04}, {'connected_gene': 'ENSG00000220600', 'score': 0.16}]
chr6 GH06I138993 138993844 138993993 0.46 [{'connected_gene': 'ABRACL', 'score': 5.73}, {'connected_gene': 'REPS1', 'score': 0.44}, {'connected_gene': 'GC06M139027', 'score': 0.29}]
chr6 GH06I138995 138994244 138995190 0.54 [{'connected_gene': 'ABRACL', 'score': 4.91}, {'connected_gene': 'REPS1', 'score': 4.56}, {'connected_gene': 'GC06M139027', 'score': 0.29}]
chr6 GH06I139442 139442135 139442944 0.82 [{'connected_gene': 'ABRACL', 'score': 1.31}, {'connected_gene': 'LINC01625', 'score': 0.29}, {'connected_gene': 'CITED2', 'score': 0.2}]
chr6 GH06I139027 139027288 139031021 2.21 [{'connected_gene': 'ABRACL', 'score': 569.13}, {'connected_gene': 'GC06M139027', 'score': 550.77}, {'connected_gene': 'HECA', 'score': 6.54}, {'connected_gene': 'CCDC28A', 'score': 1.94}, {'connected_gene': 'GC06P139052', 'score': 0.34}]
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 GH06I139124 139124504 139127399 1.18 [{'connected_gene': 'ABRACL', 'score': 6.57}, {'connected_gene': 'HECA', 'score': 6.22}, {'connected_gene': 'GC06P139052', 'score': 0.19}]
chr6 GH06I139080 139080644 139080793 0.46 [{'connected_gene': 'ABRACL', 'score': 7.4}, {'connected_gene': 'GC06P139052', 'score': 0.31}, {'connected_gene': 'HECA', 'score': 0.23}]
chr6 GH06I139099 139099667 139100733 0.65 [{'connected_gene': 'ABRACL', 'score': 8.74}, {'connected_gene': 'HECA', 'score': 0.29}, {'connected_gene': 'GC06P139052', 'score': 0.25}]
chr6 GH06I139156 139156395 139157994 0.63 [{'connected_gene': 'ABRACL', 'score': 6.63}, {'connected_gene': 'HECA', 'score': 6.08}, {'connected_gene': 'ENSG00000231329', 'score': 0.18}]
chr6 GH06I138526 138526838 138528593 1.24 [{'connected_gene': 'NHSL1', 'score': 11.42}, {'connected_gene': 'ABRACL', 'score': 4.5}, {'connected_gene': 'ENSG00000274594', 'score': 0.21}, {'connected_gene': 'LOC100129577', '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 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 GH06I139111 139111551 139115105 0.96 [{'connected_gene': 'HECA', 'score': 17.75}, {'connected_gene': 'ECT2L', 'score': 10.01}, {'connected_gene': 'LOC102723690', 'score': 9.25}, {'connected_gene': 'ABRACL', 'score': 6.52}, {'connected_gene': 'REPS1', 'score': 2.04}, {'connected_gene': 'GC06P139052', 'score': 0.21}]
chr6 GH06I138864 138864354 138865253 0.31 [{'connected_gene': 'ECT2L', 'score': 10.36}, {'connected_gene': 'ABRACL', 'score': 5.68}, {'connected_gene': 'GC06M138860', 'score': 0.44}, {'connected_gene': 'ENSG00000220600', 'score': 0.39}]
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 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}]