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
ENST00000420913 [[48859427, 48860260], [48873568, 48873753], [48874167, 48874258], [48895708, 48895804]] None
ENST00000294954 [[48913913, 48915988], [48921362, 48921443], [48925753, 48925939], [48936086, 48936161], [48941124, 48941193], [48950594, 48950672], [48950760, 48950835], [48952814, 48952889], [48956291, 48956366], [48958365, 48958437], [48982649, 48982832]] [[48914835, 48915988], [48921362, 48921443], [48925753, 48925939], [48936086, 48936161], [48941124, 48941193], [48950594, 48950672], [48950760, 48950835], [48952814, 48952889], [48956291, 48956366], [48958365, 48958437], [48982649, 48982810]]
ENST00000344775 [[48913920, 48915988], [48921362, 48921443], [48936086, 48936161], [48941124, 48941193], [48950594, 48950672], [48950760, 48950835], [48952814, 48952889], [48956291, 48956366], [48958365, 48958437], [48982649, 48982880]] [[48914835, 48915988], [48921362, 48921443], [48936086, 48936161], [48941124, 48941193], [48950594, 48950672], [48950760, 48950835], [48952814, 48952889], [48956291, 48956366], [48958365, 48958437], [48982649, 48982810]]
ENST00000405626 [[48914781, 48915988], [48925753, 48925939], [48936086, 48936161], [48941124, 48941193], [48950594, 48950672], [48950760, 48950835], [48952814, 48952889], [48956291, 48956366], [48958365, 48958437], [48982649, 48982810]] [[48914835, 48915988], [48925753, 48925939], [48936086, 48936161], [48941124, 48941193], [48950594, 48950672], [48950760, 48950835], [48952814, 48952889], [48956291, 48956366], [48958365, 48958437], [48982649, 48982810]]
ENST00000403273 [[48914807, 48915722], [48921362, 48921443], [48925753, 48925939], [48936086, 48936161], [48941124, 48941193], [48950594, 48950672], [48950760, 48950835], [48952814, 48952889], [48956291, 48956366], [48958365, 48958437], [48982649, 48982869]] [[48915679, 48915722], [48921362, 48921443], [48925753, 48925939], [48936086, 48936161], [48941124, 48941193], [48950594, 48950672], [48950760, 48950835], [48952814, 48952889], [48956291, 48956366], [48958365, 48958437], [48982649, 48982810]]
ENST00000401907 [[48914807, 48915278], [48921362, 48921443], [48925753, 48925939], [48936086, 48936161], [48941124, 48941193], [48950594, 48950672], [48950760, 48950835], [48952814, 48952889], [48956291, 48956366], [48958365, 48958437], [48982649, 48982869]] [[48915247, 48915278], [48921362, 48921443], [48925753, 48925939], [48936086, 48936161], [48941124, 48941193], [48950594, 48950672], [48950760, 48950835], [48952814, 48952889], [48956291, 48956366], [48958365, 48958437], [48982649, 48982810]]
ENST00000602369 [[48921362, 48921443], [48925753, 48925914], [48936086, 48936161], [48941124, 48941193], [48950594, 48950672], [48950760, 48950835], [48952814, 48952889], [48958365, 48958437], [48982649, 48982810]] [[48925892, 48925914], [48936086, 48936161], [48941124, 48941193], [48950594, 48950672], [48950760, 48950835], [48952814, 48952889], [48958365, 48958437], [48982649, 48982810]]
ENST00000477576 [[48935908, 48936161], [48941124, 48941193], [48950594, 48950653]] None
ENST00000428232 [[48947178, 48948918], [48950594, 48950672], [48950760, 48950835], [48952814, 48952889], [48956291, 48956366], [48958365, 48958437], [48982649, 48982708]] [[48948824, 48948918], [48950594, 48950672], [48950760, 48950835], [48952814, 48952889], [48956291, 48956366], [48958365, 48958437], [48982649, 48982708]]
NM_000233 [[48913912, 48915988], [48921362, 48921443], [48925753, 48925939], [48936086, 48936161], [48941124, 48941193], [48950594, 48950672], [48950760, 48950835], [48952814, 48952889], [48956291, 48956366], [48958365, 48958437], [48982649, 48982880]] [[48914835, 48915988], [48921362, 48921443], [48925753, 48925939], [48936086, 48936161], [48941124, 48941193], [48950594, 48950672], [48950760, 48950835], [48952814, 48952889], [48956291, 48956366], [48958365, 48958437], [48982649, 48982810]]
Promoter
Chrom Start End Description
chr2 48982824 48982837 CAGE_peak_1_at_LHCGR_5end
chr2 48982857 48982870 CAGE_peak_2_at_LHCGR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I048713 48713485 48716524 1.01 [{'connected_gene': 'LHCGR', 'score': 9.67}, {'connected_gene': 'STON1-GTF2A1L', 'score': 8.24}, {'connected_gene': 'STON1', 'score': 2.06}, {'connected_gene': 'ENSG00000279956', 'score': 0.26}, {'connected_gene': 'GC02P048647', 'score': 0.2}, {'connected_gene': 'GTF2A1L', 'score': 0.15}]
chr2 GH02I048755 48755627 48755686 0.61 [{'connected_gene': 'LHCGR', 'score': 550.77}, {'connected_gene': 'ENSG00000279956', 'score': 550.77}, {'connected_gene': 'GC02P048647', 'score': 0.14}, {'connected_gene': 'STON1-GTF2A1L', 'score': 0.07}]
chr2 GH02I048722 48722247 48723874 0.43 [{'connected_gene': 'STON1-GTF2A1L', 'score': 7.57}, {'connected_gene': 'LHCGR', 'score': 0.29}, {'connected_gene': 'ENSG00000279956', 'score': 0.29}, {'connected_gene': 'GC02P048647', 'score': 0.18}, {'connected_gene': 'GTF2A1L', 'score': 0.14}]
chr2 GH02I048693 48693142 48695071 0.31 [{'connected_gene': 'GTF2A1L', 'score': 10.74}, {'connected_gene': 'GC02P048647', 'score': 0.25}, {'connected_gene': 'LHCGR', 'score': 0.21}, {'connected_gene': 'ENSG00000279956', 'score': 0.21}, {'connected_gene': 'STON1-GTF2A1L', 'score': 0.1}]
chr2 GH02I048699 48699209 48700099 0.38 [{'connected_gene': 'GC02P048647', 'score': 0.23}, {'connected_gene': 'LHCGR', 'score': 0.22}, {'connected_gene': 'ENSG00000279956', 'score': 0.22}, {'connected_gene': 'GTF2A1L', 'score': 0.18}, {'connected_gene': 'STON1-GTF2A1L', 'score': 0.1}]

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