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
ENST00000267377 [[38677203, 38677309], [38677647, 38677814], [38678250, 38682272]] [[38678594, 38679770]]
NM_001049 [[38677203, 38677309], [38677647, 38677814], [38678250, 38682268]] [[38678594, 38679770]]
Promoter
Chrom Start End Description
chr14 38677099 38677117 CAGE_peak_5_at_SSTR1_5end
chr14 38677123 38677171 CAGE_peak_3_at_SSTR1_5end
chr14 38678295 38678312 CAGE_peak_1_at_SSTR1_5end
chr14 38678329 38678340 CAGE_peak_4_at_SSTR1_5end
chr14 38678617 38678678 CAGE_peak_2_at_SSTR1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I038403 38403055 38406718 0.74 [{'connected_gene': 'SSTR1', 'score': 10.07}, {'connected_gene': 'GEMIN2', 'score': 5.24}, {'connected_gene': 'GC14M038447', 'score': 0.26}, {'connected_gene': 'GC14P038355', 'score': 0.25}]
chr14 GH14I037994 37994580 37995795 0.31 [{'connected_gene': 'SSTR1', 'score': 10.24}, {'connected_gene': 'ENSG00000258696', 'score': 0.44}, {'connected_gene': 'LINC00517', 'score': 0.16}, {'connected_gene': 'TTC6', 'score': 0.05}]
chr14 GH14I038042 38042287 38042800 0.72 [{'connected_gene': 'SSTR1', 'score': 11.02}, {'connected_gene': 'LOC105370456', 'score': 0.77}, {'connected_gene': 'ENSG00000258649', 'score': 0.11}, {'connected_gene': 'ENSG00000259048', 'score': 0.1}]
chr14 GH14I038187 38187362 38187822 0.71 [{'connected_gene': 'SSTR1', 'score': 12.25}, {'connected_gene': 'ENSG00000258649', 'score': 0.77}, {'connected_gene': 'ENSG00000259048', 'score': 0.44}, {'connected_gene': 'LOC105370456', 'score': 0.11}]
chr14 GH14I038496 38496557 38496848 0.24 [{'connected_gene': 'SSTR1', 'score': 4.56}, {'connected_gene': 'GC14M038527', 'score': 0.28}, {'connected_gene': 'GC14M038447', 'score': 0.25}]
chr14 GH14I038203 38203376 38203525 0.2 [{'connected_gene': 'SSTR1', 'score': 0.77}, {'connected_gene': 'ENSG00000259048', 'score': 0.44}, {'connected_gene': 'GC14M038195', 'score': 0.29}]
chr14 GH14I038207 38203996 38204105 0.31 [{'connected_gene': 'SSTR1', 'score': 0.77}, {'connected_gene': 'ENSG00000259048', 'score': 0.44}, {'connected_gene': 'GC14M038195', 'score': 0.29}]
chr14 GH14I037901 37901630 37902733 0.2 [{'connected_gene': 'LINC00517', 'score': 550.77}, {'connected_gene': 'SSTR1', 'score': 9.95}, {'connected_gene': 'RNU6-1277P', 'score': 0.19}, {'connected_gene': 'TTC6', 'score': 0.06}]
chr14 GH14I038204 38204782 38204885 0.38 [{'connected_gene': 'CLEC14A', 'score': 10.9}, {'connected_gene': 'SSTR1', 'score': 0.77}, {'connected_gene': 'ENSG00000259048', 'score': 0.39}, {'connected_gene': 'GC14M038195', 'score': 0.29}]
chr14 GH14I038196 38196441 38197505 0.76 [{'connected_gene': 'CLEC14A', 'score': 10.75}, {'connected_gene': 'SSTR1', 'score': 6.22}, {'connected_gene': 'ENSG00000259048', 'score': 0.77}, {'connected_gene': 'ENSG00000258649', 'score': 0.44}, {'connected_gene': 'GC14M038195', 'score': 0.28}]
chr14 GH14I038197 38197776 38200783 0.86 [{'connected_gene': 'CLEC14A', 'score': 10.42}, {'connected_gene': 'SSTR1', 'score': 4.53}, {'connected_gene': 'ENSG00000259048', 'score': 0.77}, {'connected_gene': 'ENSG00000258649', 'score': 0.44}, {'connected_gene': 'GC14M038195', 'score': 0.28}]
chr14 GH14I038253 38253703 38258127 1.85 [{'connected_gene': 'CLEC14A', 'score': 562.12}, {'connected_gene': 'PIR37390', 'score': 550.77}, {'connected_gene': 'GC14M038256', 'score': 550.77}, {'connected_gene': 'SSTR1', 'score': 10.76}]
chr14 GH14I038188 38188948 38192720 0.63 [{'connected_gene': 'ENSG00000258649', 'score': 550.77}, {'connected_gene': 'SSTR1', 'score': 6.77}, {'connected_gene': 'GEMIN2', 'score': 3.82}, {'connected_gene': 'ENSG00000259048', 'score': 0.77}, {'connected_gene': 'LOC105370456', 'score': 0.1}]
chr14 GH14I038206 38206852 38211385 1.81 [{'connected_gene': 'GC14P038209', 'score': 550.77}, {'connected_gene': 'SSTR1', 'score': 550.77}, {'connected_gene': 'PNN', 'score': 19.02}, {'connected_gene': 'CLEC14A', 'score': 10.77}, {'connected_gene': 'GC14M038195', 'score': 0.31}]
chr14 GH14I038205 38202444 38203112 0.49 [{'connected_gene': 'ENSG00000259048', 'score': 0.44}, {'connected_gene': 'SSTR1', 'score': 0.44}, {'connected_gene': 'ENSG00000258649', 'score': 0.39}, {'connected_gene': 'GC14M038195', 'score': 0.29}]
chr14 GH14I038202 38201456 38201705 0.38 [{'connected_gene': 'ENSG00000259048', 'score': 0.44}, {'connected_gene': 'SSTR1', 'score': 0.44}, {'connected_gene': 'ENSG00000258649', 'score': 0.39}, {'connected_gene': 'GC14M038195', 'score': 0.29}]
chr14 GH14I038201 38201816 38201985 0.38 [{'connected_gene': 'ENSG00000259048', 'score': 0.44}, {'connected_gene': 'SSTR1', 'score': 0.44}, {'connected_gene': 'ENSG00000258649', 'score': 0.39}, {'connected_gene': 'GC14M038195', 'score': 0.29}]
chr14 GH14I038289 38289787 38292434 0.91 [{'connected_gene': 'ENSG00000259072', 'score': 550.77}, {'connected_gene': 'CLEC14A', 'score': 11.92}, {'connected_gene': 'SSTR1', 'score': 11.08}, {'connected_gene': 'PIR41157', 'score': 0.25}]