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
ENST00000389677 [[99719044, 99729329], [99739579, 99739696], [99771319, 99771543], [99781226, 99781423], [99790773, 99790909], [99796982, 99797531]] [[99729039, 99729329], [99739579, 99739696], [99771319, 99771543], [99781226, 99781423], [99790773, 99790909], [99796982, 99797248]]
ENST00000538471 [[99728542, 99729329], [99739579, 99739696], [99790773, 99790810]] [[99729039, 99729329], [99739579, 99739679]]
ENST00000461803 [[99728610, 99729329], [99731981, 99732088]] None
ENST00000480148 [[99771358, 99771543], [99781226, 99781423], [99790773, 99790909], [99796982, 99797104], [99797891, 99797938]] None
NM_032511 [[99719036, 99729329], [99739579, 99739696], [99771319, 99771543], [99781226, 99781423], [99790773, 99790909], [99796982, 99797531]] [[99729039, 99729329], [99739579, 99739696], [99771319, 99771543], [99781226, 99781423], [99790773, 99790909], [99796982, 99797248]]
NM_001346532 [[99719036, 99729329], [99739579, 99739696], [99771319, 99771543], [99781226, 99781423], [99790773, 99790909], [99796982, 99797104], [99797606, 99797866]] [[99729039, 99729329], [99739579, 99739696], [99771319, 99771543], [99781226, 99781423], [99790773, 99790909], [99796982, 99797089]]
NR_144464 [[99719036, 99729329], [99739579, 99739696], [99781226, 99781423], [99790773, 99790909], [99796982, 99797104], [99797606, 99797866]] None
NM_001346533 [[99719036, 99729329], [99739579, 99739696], [99771319, 99771543], [99781226, 99781423], [99790773, 99790909], [99797606, 99797866]] [[99729039, 99729329], [99739579, 99739696], [99771319, 99771543], [99781226, 99781423], [99790773, 99790812]]
NM_001346531 [[99719036, 99729329], [99739579, 99739696], [99771319, 99771543], [99781226, 99781423], [99790773, 99790909], [99796982, 99797104], [99797891, 99798186]] [[99729039, 99729329], [99739579, 99739696], [99771319, 99771543], [99781226, 99781423], [99790773, 99790909], [99796982, 99797089]]
NR_144463 [[99719036, 99729329], [99739579, 99739696], [99781226, 99781423], [99790773, 99790909], [99796982, 99797104], [99797891, 99798186]] None
NM_001346530 [[99719036, 99729329], [99739579, 99739696], [99771319, 99771543], [99781226, 99781423], [99790773, 99790909], [99797891, 99798186]] [[99729039, 99729329], [99739579, 99739696], [99771319, 99771543], [99781226, 99781423], [99790773, 99790812]]
Promoter
Chrom Start End Description
chr6 99797083 99797125 CAGE_peak_12_at_C6orf168_5end
chr6 99797362 99797377 CAGE_peak_13_at_C6orf168_5end
chr6 99797522 99797572 CAGE_peak_1_at_C6orf168_5end
chr6 99797658 99797684 CAGE_peak_6_at_C6orf168_5end
chr6 99797777 99797806 CAGE_peak_5_at_C6orf168_5end
chr6 99797854 99797897 CAGE_peak_3_at_C6orf168_5end
chr6 99797916 99797958 CAGE_peak_2_at_C6orf168_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I099349 99349000 99350401 1.79 [{'connected_gene': 'FAXC', 'score': 560.45}, {'connected_gene': 'RPS3P5', 'score': 18.49}, {'connected_gene': 'LOC101927365', 'score': 7.78}, {'connected_gene': 'GC06P099185', 'score': 0.1}]
chr6 GH06I099329 99329852 99330137 0.62 [{'connected_gene': 'COQ3', 'score': 11.39}, {'connected_gene': 'FAXC', 'score': 3.71}, {'connected_gene': 'POU3F2', 'score': 2.59}, {'connected_gene': 'GC06P099185', 'score': 0.11}]
chr6 GH06I099393 99393174 99394774 2.03 [{'connected_gene': 'COQ3', 'score': 550.77}, {'connected_gene': 'LOC101927365', 'score': 30.65}, {'connected_gene': 'RPS3P5', 'score': 16.31}, {'connected_gene': 'FBXL4', 'score': 13.94}, {'connected_gene': 'TSTD3', 'score': 10.87}, {'connected_gene': 'PNISR', 'score': 10.55}, {'connected_gene': 'FAXC', 'score': 0.26}]
chr6 GH06I099335 99335386 99335752 0.38 [{'connected_gene': 'LOC101927365', 'score': 11.09}, {'connected_gene': 'PNISR', 'score': 11.09}, {'connected_gene': 'FAXC', 'score': 0.39}, {'connected_gene': 'GC06P099185', 'score': 0.11}]
chr6 GH06I099334 99334645 99334794 0.57 [{'connected_gene': 'LOC101927365', 'score': 11.09}, {'connected_gene': 'PNISR', 'score': 11.09}, {'connected_gene': 'FAXC', 'score': 0.37}, {'connected_gene': 'GC06P099185', 'score': 0.11}]
chr6 GH06I099185 99185593 99185945 0.58 [{'connected_gene': 'GC06P099185', 'score': 550.77}, {'connected_gene': 'FAXC', 'score': 0.1}]
chr6 GH06I099219 99219885 99220034 0.43 [{'connected_gene': 'GC06P099185', 'score': 0.29}, {'connected_gene': 'FAXC', 'score': 0.12}]

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