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
ENST00000309683 [[63980261, 63982878], [64004084, 64004180], [64004683, 64004810], [64023302, 64023484]] [[63981538, 63982878], [64004084, 64004180], [64004683, 64004810], [64023302, 64023332]]
ENST00000476563 [[63982303, 63982878], [64004084, 64004180], [64023302, 64023400]] None
ENST00000470847 [[63982827, 63982878], [64004084, 64004597]] None
ENST00000447137 [[63985076, 63986895], [64004084, 64004180], [64004683, 64004810], [64023302, 64023419]] [[63986776, 63986895], [64004084, 64004180], [64004683, 64004810], [64023302, 64023332]]
ENST00000473601 [[64004723, 64004810], [64021323, 64021651], [64023302, 64023453]] None
NM_178558 [[63980254, 63982878], [64004084, 64004180], [64004683, 64004810], [64023302, 64023505]] [[63981538, 63982878], [64004084, 64004180], [64004683, 64004810], [64023302, 64023332]]
NM_001130022 [[63985033, 63986895], [64004084, 64004180], [64004683, 64004810], [64023302, 64023505]] [[63986776, 63986895], [64004084, 64004180], [64004683, 64004810], [64023302, 64023332]]
Promoter
Chrom Start End Description
chr7 64023410 64023428 CAGE_peak_2_at_ZNF680_5end
chr7 64023441 64023462 CAGE_peak_1_at_ZNF680_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I064541 64541195 64542427 0.63 [{'connected_gene': 'ZNF107', 'score': 14.16}, {'connected_gene': 'ZNF680P1', 'score': 7.17}, {'connected_gene': 'ZNF138', 'score': 5.47}, {'connected_gene': 'BNIP3P42', 'score': 0.44}, {'connected_gene': 'ZNF680', 'score': 0.34}, {'connected_gene': 'HNRNPCP7', 'score': 0.26}]
chr7 GH07I064558 64558007 64560904 0.79 [{'connected_gene': 'ZNF107', 'score': 8.86}, {'connected_gene': 'YWHAEP1', 'score': 7.42}, {'connected_gene': 'ZNF680P1', 'score': 7.13}, {'connected_gene': 'ZNF680', 'score': 0.77}, {'connected_gene': 'BNIP3P42', 'score': 0.44}]
chr7 GH07I064875 64875044 64875167 0.22 [{'connected_gene': 'EEF1DP4', 'score': 42.71}, {'connected_gene': 'ZNF117', 'score': 13.93}, {'connected_gene': 'ZNF680', 'score': 4.22}, {'connected_gene': 'ZNF273', 'score': 0.77}, {'connected_gene': 'LOC441239', 'score': 0.39}]
chr7 GH07I064894 64891907 64892131 0.84 [{'connected_gene': 'LOC441239', 'score': 550.77}, {'connected_gene': 'EEF1DP4', 'score': 4.41}, {'connected_gene': 'ZNF680', 'score': 4.18}, {'connected_gene': 'ZNF273', 'score': 0.34}, {'connected_gene': 'VN1R42P', 'score': 0.26}]
chr7 GH07I064562 64562001 64563800 1.98 [{'connected_gene': 'ZNF680', 'score': 550.77}, {'connected_gene': 'ZNF107', 'score': 14.28}, {'connected_gene': 'CCT6P3', 'score': 14.23}, {'connected_gene': 'GTF2IP14', 'score': 11.78}, {'connected_gene': 'ZNF736', 'score': 11.73}, {'connected_gene': 'GABPAP', 'score': 10.21}, {'connected_gene': 'ZNF117', 'score': 5.17}, {'connected_gene': 'LOC644387', 'score': 4.53}, {'connected_gene': 'BNIP3P42', 'score': 0.39}]
chr7 GH07I064561 64561201 64561400 0.2 [{'connected_gene': 'ZNF680', 'score': 550.77}, {'connected_gene': 'ZNF107', 'score': 5.59}, {'connected_gene': 'BNIP3P42', 'score': 0.44}]
chr7 GH07I064995 64995998 65007771 2.5 [{'connected_gene': 'ERV3-1', 'score': 588.2}, {'connected_gene': 'GTF2IP14', 'score': 61.02}, {'connected_gene': 'CCT6P3', 'score': 49.62}, {'connected_gene': 'INTS4P1', 'score': 33.81}, {'connected_gene': 'ZNF117', 'score': 18.18}, {'connected_gene': 'CCT6P1', 'score': 16.97}, {'connected_gene': 'VKORC1L1', 'score': 15.19}, {'connected_gene': 'ZNF736', 'score': 12.43}, {'connected_gene': 'ENSG00000227113', 'score': 12.28}, {'connected_gene': 'EEF1DP4', 'score': 6.58}, {'connected_gene': 'ZNF680', 'score': 4.33}, {'connected_gene': 'ZNF273', 'score': 3.91}, {'connected_gene': 'VN1R43P', 'score': 0.31}]
chr7 GH07I064305 64305921 64308540 1.65 [{'connected_gene': 'GC07P064309', 'score': 550.77}, {'connected_gene': 'LOC105375322', 'score': 550.77}, {'connected_gene': 'PIR31902', 'score': 550.77}, {'connected_gene': 'ZNF736', 'score': 550.77}, {'connected_gene': 'GUSBP6', 'score': 9.77}, {'connected_gene': 'ZNF680', 'score': 9.01}, {'connected_gene': 'YWHAEP1', 'score': 7.64}, {'connected_gene': 'ZNF680P1', 'score': 7.4}, {'connected_gene': 'TRIM60P18', 'score': 6.91}, {'connected_gene': 'SEPHS1P1', 'score': 5.16}, {'connected_gene': 'CCT6P3', 'score': 4.73}, {'connected_gene': 'ZNF107', 'score': 3.89}, {'connected_gene': 'LOC105375323', 'score': 0.39}]
chr7 GH07I064835 64835317 64835537 0.48 [{'connected_gene': 'ENSG00000234338', 'score': 550.77}, {'connected_gene': 'PIR39219', 'score': 550.77}, {'connected_gene': 'LOC101929322', 'score': 7.1}, {'connected_gene': 'ZNF680', 'score': 1.53}, {'connected_gene': 'ZNF138', 'score': 0.26}]