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
ENST00000394334 [[131157292, 131157435], [131157535, 131157687], [131188658, 131188889], [131197460, 131197517], [131202242, 131202351], [131202439, 131202597], [131203505, 131203691], [131205096, 131205245], [131206295, 131206389], [131206840, 131206903], [131206984, 131207121], [131208162, 131209971]] [[131157645, 131157687], [131188658, 131188889], [131197460, 131197517], [131202242, 131202351], [131202439, 131202597], [131203505, 131203691], [131205096, 131205245], [131206295, 131206389], [131206840, 131206903], [131206984, 131207121], [131208162, 131208187]]
ENST00000481105 [[131157329, 131157435], [131157535, 131157687], [131188658, 131188889], [131189483, 131189549], [131197460, 131197517], [131202242, 131202351], [131202439, 131202597], [131203505, 131203691], [131205096, 131205245], [131206295, 131206389], [131206840, 131206903], [131206984, 131207121], [131208162, 131208489]] [[131157645, 131157687], [131188658, 131188889], [131189483, 131189549], [131197460, 131197517], [131202242, 131202351], [131202439, 131202597], [131203505, 131203691], [131205096, 131205245], [131206295, 131206389], [131206840, 131206903], [131206984, 131207121], [131208162, 131208187]]
ENST00000354719 [[131157329, 131157435], [131157535, 131157687], [131188658, 131188889], [131197460, 131197517], [131202242, 131202351], [131202439, 131202597], [131203505, 131203691], [131205096, 131205245], [131206295, 131206389], [131206993, 131207121], [131208162, 131209971]] [[131157645, 131157687], [131188658, 131188889], [131197460, 131197517], [131202242, 131202351], [131202439, 131202597], [131203505, 131203691], [131205096, 131205245], [131206295, 131206389], [131206993, 131207121], [131208162, 131208187]]
ENST00000394335 [[131157332, 131157435], [131157535, 131157687], [131197460, 131197517], [131202242, 131202351], [131202439, 131202597], [131203505, 131203691], [131205096, 131205245], [131206295, 131206389], [131206840, 131206903], [131206984, 131207121], [131208162, 131209971]] [[131157645, 131157687], [131197460, 131197517], [131202242, 131202351], [131202439, 131202597], [131203505, 131203691], [131205096, 131205245], [131206295, 131206389], [131206840, 131206903], [131206984, 131207121], [131208162, 131208187]]
ENST00000496850 [[131157635, 131157687], [131188658, 131188889], [131197460, 131197517], [131202242, 131202351], [131202439, 131202597], [131205096, 131205245], [131206295, 131206389], [131206840, 131206903], [131206984, 131207121], [131208162, 131208298]] [[131157645, 131157687], [131188658, 131188889], [131197460, 131197517], [131202242, 131202351], [131202439, 131202597], [131205096, 131205245], [131206295, 131206389], [131206840, 131206903], [131206984, 131207121], [131208162, 131208187]]
NM_001042453 [[131157244, 131157435], [131157535, 131157687], [131197460, 131197517], [131202242, 131202351], [131202439, 131202597], [131203505, 131203691], [131205096, 131205245], [131206295, 131206389], [131206840, 131206903], [131206984, 131207121], [131208162, 131209971]] [[131157645, 131157687], [131197460, 131197517], [131202242, 131202351], [131202439, 131202597], [131203505, 131203691], [131205096, 131205245], [131206295, 131206389], [131206840, 131206903], [131206984, 131207121], [131208162, 131208187]]
NM_016542 [[131157244, 131157435], [131157535, 131157687], [131188658, 131188889], [131197460, 131197517], [131202242, 131202351], [131202439, 131202597], [131203505, 131203691], [131205096, 131205245], [131206295, 131206389], [131206840, 131206903], [131206984, 131207121], [131208162, 131209971]] [[131157645, 131157687], [131188658, 131188889], [131197460, 131197517], [131202242, 131202351], [131202439, 131202597], [131203505, 131203691], [131205096, 131205245], [131206295, 131206389], [131206840, 131206903], [131206984, 131207121], [131208162, 131208187]]
NM_001042452 [[131157635, 131157687], [131188658, 131188889], [131197460, 131197517], [131202242, 131202351], [131202439, 131202597], [131205096, 131205245], [131206295, 131206389], [131206840, 131206903], [131206984, 131207121], [131208162, 131209971]] [[131157645, 131157687], [131188658, 131188889], [131197460, 131197517], [131202242, 131202351], [131202439, 131202597], [131205096, 131205245], [131206295, 131206389], [131206840, 131206903], [131206984, 131207121], [131208162, 131208187]]
Promoter
Chrom Start End Description
chrX 131156808 131156816 CAGE_peak_6_at_MST4_5end
chrX 131157250 131157259 CAGE_peak_5_at_MST4_5end
chrX 131157290 131157309 CAGE_peak_2_at_MST4_5end
chrX 131157322 131157339 CAGE_peak_1_at_MST4_5end
chrX 131157354 131157369 CAGE_peak_3_at_MST4_5end
chrX 131157609 131157642 CAGE_peak_4_at_MST4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chrX GH0XI132118 132118860 132121110 0.49 [{'connected_gene': 'FRMD7', 'score': 20.27}, {'connected_gene': 'RAP2C', 'score': 16.62}, {'connected_gene': 'STK26', 'score': 0.15}]
chrX GH0XI132086 132086793 132087244 0.29 [{'connected_gene': 'FRMD7', 'score': 12.16}, {'connected_gene': 'RAP2C', 'score': 10.5}, {'connected_gene': 'STK26', 'score': 10.26}]
chrX GH0XI132088 132088894 132089176 0.28 [{'connected_gene': 'FRMD7', 'score': 12.18}, {'connected_gene': 'RAP2C', 'score': 7.47}, {'connected_gene': 'STK26', 'score': 5.87}]
chrX GH0XI132479 132479527 132482279 1.57 [{'connected_gene': 'FRMD7', 'score': 6.94}, {'connected_gene': 'MBNL3', 'score': 2.37}, {'connected_gene': 'STK26', 'score': 1.94}, {'connected_gene': 'GC0XM132373', 'score': 0.15}]
chrX GH0XI132093 132093453 132093582 0.46 [{'connected_gene': 'FRMD7', 'score': 5.47}, {'connected_gene': 'STK26', 'score': 0.19}]
chrX GH0XI132090 132090410 132090969 0.3 [{'connected_gene': 'RAP2C', 'score': 11.8}, {'connected_gene': 'STK26', 'score': 7.22}, {'connected_gene': 'FRMD7', 'score': 0.28}]
chrX GH0XI132022 132022153 132026445 2.28 [{'connected_gene': 'STK26', 'score': 559.29}, {'connected_gene': 'RAP2C', 'score': 3.39}, {'connected_gene': 'MBNL3', 'score': 1.31}, {'connected_gene': 'FRMD7', 'score': 0.15}]
chrX GH0XI132016 132016862 132018212 0.74 [{'connected_gene': 'GC0XP132015', 'score': 0.77}, {'connected_gene': 'STK26', 'score': 0.44}]

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