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
ENST00000548553 [[51317254, 51317863], [51318449, 51319319], [51323696, 51326293]] [[51318821, 51319319], [51323696, 51323933]]
ENST00000550502 [[51317787, 51317863], [51318819, 51319319], [51323696, 51323738]] [[51318821, 51319319], [51323696, 51323738]]
ENST00000332160 [[51318533, 51319319], [51323696, 51326300]] [[51318821, 51319319], [51323696, 51323933]]
ENST00000547104 [[51318765, 51319319], [51323696, 51324074], [51325397, 51326290]] [[51318821, 51319319], [51323696, 51323933]]
ENST00000546513 [[51318768, 51319319], [51323696, 51324575], [51325295, 51326288]] [[51318821, 51319319], [51323696, 51323933]]
ENST00000550097 [[51318823, 51319319], [51323696, 51324205], [51325380, 51326221]] [[51318823, 51319319], [51323696, 51323933]]
NM_014033 [[51318533, 51319319], [51323696, 51326300]] [[51318821, 51319319], [51323696, 51323933]]
Promoter
Chrom Start End Description
chr12 51317806 51317834 CAGE_peak_12_at_METTL7A_5end
chr12 51318389 51318399 CAGE_peak_8_at_METTL7A_5end
chr12 51318401 51318412 CAGE_peak_7_at_METTL7A_5end
chr12 51318431 51318459 CAGE_peak_3_at_METTL7A_5end
chr12 51318464 51318492 CAGE_peak_2_at_METTL7A_5end
chr12 51318499 51318511 CAGE_peak_5_at_METTL7A_5end
chr12 51318513 51318527 CAGE_peak_4_at_METTL7A_5end
chr12 51318790 51318817 CAGE_peak_1_at_METTL7A_5end
chr12 51323891 51323918 CAGE_peak_9_at_METTL7A_5end
chr12 51324072 51324075 CAGE_peak_6_at_METTL7A_5end
chr12 51324615 51324624 CAGE_peak_13_at_METTL7A_5end
chr12 51324660 51324671 CAGE_peak_10_at_METTL7A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I051004 51004311 51006972 0.92 [{'connected_gene': 'SLC11A2', 'score': 34.66}, {'connected_gene': 'CSRNP2', 'score': 9.24}, {'connected_gene': 'METTL7A', 'score': 4.94}, {'connected_gene': 'RNU7-39P', 'score': 0.44}, {'connected_gene': 'ENSG00000274797', 'score': 0.23}]
chr12 GH12I050929 50929887 50930908 0.31 [{'connected_gene': 'SLC11A2', 'score': 10.57}, {'connected_gene': 'RNU6-1273P', 'score': 10.52}, {'connected_gene': 'LETMD1', 'score': 10.24}, {'connected_gene': 'ENSG00000274156', 'score': 0.44}, {'connected_gene': 'METTL7A', 'score': 0.44}]
chr12 GH12I050921 50921999 50928985 2.44 [{'connected_gene': 'METTL7A', 'score': 550.77}, {'connected_gene': 'SMARCD1', 'score': 39.87}, {'connected_gene': 'SLC11A2', 'score': 30.96}, {'connected_gene': 'HNRNPA3P10', 'score': 24.17}, {'connected_gene': 'LIMA1', 'score': 20.24}, {'connected_gene': 'ATF1', 'score': 19.17}, {'connected_gene': 'LETMD1', 'score': 16.33}, {'connected_gene': 'TFCP2', 'score': 12.78}, {'connected_gene': 'ENSG00000257298', 'score': 12.05}, {'connected_gene': 'RNU6-1273P', 'score': 10.52}, {'connected_gene': 'CERS5', 'score': 7.07}, {'connected_gene': 'LARP4', 'score': 5.78}, {'connected_gene': 'PHBP19', 'score': 4.72}, {'connected_gene': 'DIP2B', 'score': 1.48}, {'connected_gene': 'ENSG00000274156', 'score': 0.44}]
chr12 GH12I051398 51398024 51402500 1.02 [{'connected_gene': 'GALNT6', 'score': 11.21}, {'connected_gene': 'HIGD1C', 'score': 10.67}, {'connected_gene': 'SCN8A', 'score': 7.82}, {'connected_gene': 'SLC4A8', 'score': 5.65}, {'connected_gene': 'METTL7A', 'score': 3.6}, {'connected_gene': 'ENSG00000271065', 'score': 0.34}]
chr12 GH12I050930 50930991 50936130 1.63 [{'connected_gene': 'ENSG00000274156', 'score': 550.77}, {'connected_gene': 'SLC11A2', 'score': 42.73}, {'connected_gene': 'RNU6-1273P', 'score': 10.47}, {'connected_gene': 'CSRNP2', 'score': 6.94}, {'connected_gene': 'METTL7A', 'score': 4.83}]