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
ENST00000394667 [[109541721, 109541756], [109543106, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546411]] [[109543115, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546368]]
ENST00000502534 [[109541724, 109541756], [109543106, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546409], [109546586, 109546710]] [[109543115, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546368]]
ENST00000394665 [[109541745, 109541868], [109543106, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546411]] [[109543115, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546368]]
ENST00000503574 [[109541781, 109543180], [109543260, 109544488]] None
ENST00000506397 [[109541788, 109541868], [109542786, 109542852], [109543106, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546408]] [[109543115, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546368]]
ENST00000394668 [[109541811, 109541868], [109543106, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546409], [109551176, 109551568]] [[109543115, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546368]]
ENST00000504231 [[109543198, 109543774], [109546283, 109546336]] None
NM_001319236 [[109541713, 109541756], [109543106, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546526]] [[109543115, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546368]]
NM_000995 [[109541713, 109541756], [109543106, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546409], [109551176, 109551640]] [[109543115, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546368]]
NM_001319235 [[109541745, 109541868], [109543106, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546526]] [[109543115, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546368]]
NM_001319232 [[109541745, 109541868], [109542786, 109542852], [109543106, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546526]] [[109543115, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546368]]
NM_033625 [[109541745, 109541868], [109543106, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546409], [109551176, 109551640]] [[109543115, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546368]]
NM_001319234 [[109541784, 109541957], [109543106, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546526]] [[109543115, 109543180], [109543260, 109543360], [109543670, 109543774], [109546283, 109546368]]
Promoter
Chrom Start End Description
chr4 109541684 109541697 CAGE_peak_4_at_RPL34_5end
chr4 109541723 109541738 CAGE_peak_1_at_RPL34_5end
chr4 109541740 109541761 CAGE_peak_2_at_RPL34_5end
chr4 109541772 109541801 CAGE_peak_3_at_RPL34_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I107808 107808368 107809938 0.2 [{'connected_gene': 'PAPSS1', 'score': 16.37}, {'connected_gene': 'RPL34', 'score': 4.86}, {'connected_gene': 'SGMS2', 'score': 4.86}, {'connected_gene': 'GC04P107803', 'score': 0.44}]
chr4 GH04I108645 108645992 108647418 0.38 [{'connected_gene': 'RPL34', 'score': 11.49}, {'connected_gene': 'RPL34-AS1', 'score': 11.49}, {'connected_gene': 'OSTC', 'score': 0.77}, {'connected_gene': 'PIR53159', 'score': 0.34}]
chr4 GH04I108618 108618932 108623104 2.27 [{'connected_gene': 'RPL34', 'score': 585.64}, {'connected_gene': 'RPL34-AS1', 'score': 559.48}, {'connected_gene': 'PIR53159', 'score': 550.77}, {'connected_gene': 'SETP20', 'score': 34.84}, {'connected_gene': 'SEC24B', 'score': 33.87}, {'connected_gene': 'CDC42P4', 'score': 13.0}, {'connected_gene': 'OSTC', 'score': 9.94}, {'connected_gene': 'GC04P108610', 'score': 0.39}]
chr4 GH04I108073 108073973 108076466 0.43 [{'connected_gene': 'RPL34', 'score': 9.82}, {'connected_gene': 'RPL34-AS1', 'score': 9.82}, {'connected_gene': 'HADH', 'score': 4.17}, {'connected_gene': 'GC04M107959', 'score': 0.28}, {'connected_gene': 'GC04P108129', 'score': 0.23}, {'connected_gene': 'LEF1', 'score': 0.16}]
chr4 GH04I108029 108029445 108029594 0.51 [{'connected_gene': 'RPL34', 'score': 9.71}, {'connected_gene': 'RPL34-AS1', 'score': 9.71}, {'connected_gene': 'GC04M107959', 'score': 0.44}, {'connected_gene': 'GC04P107997', 'score': 0.29}, {'connected_gene': 'HADH', 'score': 0.28}]
chr4 GH04I108071 108071310 108073812 0.92 [{'connected_gene': 'RPL34', 'score': 9.82}, {'connected_gene': 'RPL34-AS1', 'score': 9.82}, {'connected_gene': 'CYP2U1', 'score': 8.97}, {'connected_gene': 'HADH', 'score': 5.57}, {'connected_gene': 'GC04M107959', 'score': 0.29}, {'connected_gene': 'GC04P108129', 'score': 0.22}, {'connected_gene': 'LEF1', 'score': 0.15}]
chr4 GH04I108270 108270452 108271209 0.56 [{'connected_gene': 'RPL34', 'score': 12.88}, {'connected_gene': 'GC04P108177', 'score': 0.16}, {'connected_gene': 'PIR33250', 'score': 0.16}, {'connected_gene': 'ZACNP1', 'score': 0.13}]
chr4 GH04I108032 108032089 108032812 0.2 [{'connected_gene': 'HADH', 'score': 10.84}, {'connected_gene': 'RPL34', 'score': 9.82}, {'connected_gene': 'RPL34-AS1', 'score': 9.82}, {'connected_gene': 'GC04M107959', 'score': 0.44}, {'connected_gene': 'GC04P107997', 'score': 0.28}]
chr4 GH04I108008 108008337 108009531 0.86 [{'connected_gene': 'HADH', 'score': 12.17}, {'connected_gene': 'LOC101929595', 'score': 10.9}, {'connected_gene': 'RPL34', 'score': 9.62}, {'connected_gene': 'RPL34-AS1', 'score': 9.62}, {'connected_gene': 'GC04P107997', 'score': 0.39}, {'connected_gene': 'GC04M107959', 'score': 0.31}]
chr4 GH04I108030 108029771 108031648 0.86 [{'connected_gene': 'HADH', 'score': 16.87}, {'connected_gene': 'LOC101929595', 'score': 10.42}, {'connected_gene': 'RPL34', 'score': 9.82}, {'connected_gene': 'RPL34-AS1', 'score': 9.82}, {'connected_gene': 'GC04M107959', 'score': 0.44}, {'connected_gene': 'GC04P107997', 'score': 0.29}]
chr4 GH04I108598 108598176 108598851 0.2 [{'connected_gene': 'RPL34-AS1', 'score': 16.93}, {'connected_gene': 'RPL34', 'score': 10.46}, {'connected_gene': 'PIR53246', 'score': 0.44}, {'connected_gene': 'GC04P108610', 'score': 0.39}]
chr4 GH04I108610 108610752 108612309 1.11 [{'connected_gene': 'GC04P108610', 'score': 550.77}, {'connected_gene': 'RPL34', 'score': 17.26}, {'connected_gene': 'RPL34-AS1', 'score': 9.49}]
chr4 GH04I108591 108591901 108593018 0.92 [{'connected_gene': 'PIR53246', 'score': 550.77}, {'connected_gene': 'RPL34-AS1', 'score': 16.86}, {'connected_gene': 'RPL34', 'score': 10.43}, {'connected_gene': 'GC04P108610', 'score': 0.37}]

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