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
ENST00000595851 [[58990878, 58992172], [58992430, 58992554], [58994898, 58995013], [59009860, 59010058], [59010151, 59010282], [59010489, 59010630]] [[59009881, 59010058], [59010151, 59010262]]
ENST00000594786 [[59009699, 59010058], [59010151, 59010282], [59010489, 59010642]] [[59009881, 59010058], [59010151, 59010262]]
ENST00000599700 [[59009703, 59010058], [59010489, 59010608]] None
ENST00000263093 [[59009703, 59010058], [59010151, 59010282], [59010489, 59010587], [59010858, 59011057], [59011705, 59011796], [59011878, 59012073], [59012652, 59012777], [59021213, 59021372], [59022087, 59022297], [59022634, 59023432]] [[59009881, 59010058], [59010151, 59010282], [59010489, 59010587], [59010858, 59011057], [59011705, 59011796], [59011878, 59012073], [59012652, 59012777], [59021213, 59021372], [59022087, 59022297], [59022634, 59023322]]
ENST00000601355 [[59009752, 59010058], [59010151, 59010282], [59010489, 59010587], [59010858, 59011057], [59011705, 59011796], [59011878, 59012073], [59012652, 59012777], [59021213, 59021372], [59022087, 59022297], [59022886, 59023359]] [[59009881, 59010058], [59010151, 59010282], [59010489, 59010587], [59010858, 59011057], [59011705, 59011796], [59011878, 59012073], [59012652, 59012777], [59021213, 59021372], [59022087, 59022297], [59022886, 59023322]]
ENST00000601997 [[59009841, 59010058], [59010151, 59010509]] None
ENST00000594683 [[59011960, 59012073], [59012652, 59012777], [59021213, 59021539]] None
ENST00000593745 [[59018748, 59023780]] None
NM_012254 [[59009699, 59010058], [59010151, 59010282], [59010489, 59010587], [59010858, 59011057], [59011705, 59011796], [59011878, 59012073], [59012652, 59012777], [59021213, 59021372], [59022087, 59022297], [59022634, 59023432]] [[59009881, 59010058], [59010151, 59010282], [59010489, 59010587], [59010858, 59011057], [59011705, 59011796], [59011878, 59012073], [59012652, 59012777], [59021213, 59021372], [59022087, 59022297], [59022634, 59023322]]
NM_001321196 [[59009699, 59010058], [59010151, 59010282], [59010489, 59010587], [59010858, 59011057], [59011705, 59011796], [59011878, 59012073], [59012652, 59012777], [59021213, 59021372], [59022087, 59022297], [59022886, 59023432]] [[59009881, 59010058], [59010151, 59010282], [59010489, 59010587], [59010858, 59011057], [59011705, 59011796], [59011878, 59012073], [59012652, 59012777], [59021213, 59021372], [59022087, 59022297], [59022886, 59023322]]
Promoter
Chrom Start End Description
chr19 59010565 59010643 CAGE_peak_1_at_SLC27A5_5end
chr19 59023348 59023366 CAGE_peak_2_at_SLC27A5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I058504 58504734 58504883 0.43 [{'connected_gene': 'ZNF584', 'score': 19.5}, {'connected_gene': 'PIR33832', 'score': 0.77}, {'connected_gene': 'SLC27A5', 'score': 0.44}, {'connected_gene': 'LOC105372485', 'score': 0.44}]
chr19 GH19I058511 58511295 58515200 1.91 [{'connected_gene': 'SLC27A5', 'score': 550.77}, {'connected_gene': 'LOC105372486', 'score': 550.77}, {'connected_gene': 'ZNF584', 'score': 17.81}, {'connected_gene': 'CENPBD1P1', 'score': 13.09}, {'connected_gene': 'ZBTB45', 'score': 0.31}]
chr19 GH19I058498 58498069 58500260 1.8 [{'connected_gene': 'LOC105372485', 'score': 550.77}, {'connected_gene': 'ZNF584', 'score': 30.75}, {'connected_gene': 'ZNF324B', 'score': 28.99}, {'connected_gene': 'TRIM28', 'score': 16.39}, {'connected_gene': 'LOC105372483', 'score': 16.18}, {'connected_gene': 'ENSG00000268543', 'score': 15.53}, {'connected_gene': 'ZBTB45', 'score': 13.13}, {'connected_gene': 'ZNF132', 'score': 12.87}, {'connected_gene': 'ENSG00000268912', 'score': 12.81}, {'connected_gene': 'ZNF134', 'score': 12.19}, {'connected_gene': 'ZNF416', 'score': 12.04}, {'connected_gene': 'ZNF256', 'score': 11.74}, {'connected_gene': 'ZNF549', 'score': 10.69}, {'connected_gene': 'ZNF446', 'score': 10.6}, {'connected_gene': 'ZNF135', 'score': 9.8}, {'connected_gene': 'ZSCAN18', 'score': 9.74}, {'connected_gene': 'CENPBD1P1', 'score': 8.96}, {'connected_gene': 'A1BG', 'score': 7.53}, {'connected_gene': 'GC19M058505', 'score': 0.44}, {'connected_gene': 'SLC27A5', 'score': 0.39}]
chr19 GH19I058509 58509511 58510189 0.86 [{'connected_gene': 'PIR33832', 'score': 550.77}, {'connected_gene': 'CENPBD1P1', 'score': 11.28}, {'connected_gene': 'SLC27A5', 'score': 0.77}, {'connected_gene': 'LOC105372485', 'score': 0.39}]
chr19 GH19I058488 58488895 58490172 0.85 [{'connected_gene': 'GC19M058505', 'score': 550.77}, {'connected_gene': 'RN7SL693P', 'score': 550.77}, {'connected_gene': 'ZNF132', 'score': 19.72}, {'connected_gene': 'ZNF417', 'score': 13.31}, {'connected_gene': 'ZNF773', 'score': 13.13}, {'connected_gene': 'ZNF134', 'score': 12.18}, {'connected_gene': 'ZNF274', 'score': 10.99}, {'connected_gene': 'ZNF446', 'score': 10.9}, {'connected_gene': 'TRIM28', 'score': 10.55}, {'connected_gene': 'ZNF256', 'score': 10.33}, {'connected_gene': 'ZNF606', 'score': 10.12}, {'connected_gene': 'ZNF211', 'score': 10.09}, {'connected_gene': 'RNU6-1337P', 'score': 0.44}, {'connected_gene': 'SLC27A5', 'score': 0.34}]