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
ENST00000339554 [[140342021, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140349690, 140349759], [140350862, 140350938], [140351858, 140351989]] [[140343845, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140349690, 140349759], [140350862, 140350938], [140351858, 140351883]]
ENST00000371475 [[140342024, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140349690, 140349759], [140350080, 140350086], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353786]] [[140343845, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140349690, 140349759], [140350080, 140350086], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353554]]
ENST00000371473 [[140342024, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348842, 140348895], [140349690, 140349759], [140350080, 140350086], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353786]] [[140343845, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348842, 140348895], [140349690, 140349759], [140350080, 140350086], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353554]]
ENST00000437259 [[140342024, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140350080, 140350086], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353786]] [[140343845, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140350080, 140350086], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353554]]
ENST00000392812 [[140342024, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140350826, 140350832], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353786]] [[140343845, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140350826, 140350832], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353554]]
ENST00000265663 [[140342024, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140349690, 140349759], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353786]] [[140343845, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140349690, 140349759], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353554]]
ENST00000371474 [[140342024, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353786]] [[140343845, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353554]]
ENST00000371482 [[140342676, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140348272], [140348842, 140348895], [140348989, 140349108]] [[140343845, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347310]]
ENST00000371472 [[140342676, 140342738], [140343842, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140349690, 140349759], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353754]] [[140343845, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140349690, 140349759], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353554]]
ENST00000541195 [[140343308, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140348989, 140349161]] [[140343845, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140348989, 140349159]]
ENST00000484316 [[140344058, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347632], [140348182, 140348272], [140348842, 140348884]] None
ENST00000482448 [[140344386, 140344552], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347623]] None
ENST00000371468 [[140346916, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348944]] [[140347079, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348873]]
NM_001130969 [[140342021, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140349690, 140349759], [140350080, 140350086], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353786]] [[140343845, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140349690, 140349759], [140350080, 140350086], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353554]]
NM_001178064 [[140342021, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348842, 140348895], [140349690, 140349759], [140350080, 140350086], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353786]] [[140343845, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348842, 140348895], [140349690, 140349759], [140350080, 140350086], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353554]]
NM_001130970 [[140342021, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140350080, 140350086], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353786]] [[140343845, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140350080, 140350086], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353554]]
NM_015537 [[140342021, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140349690, 140349759], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353786]] [[140343845, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140349690, 140349759], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353554]]
NM_001130971 [[140342021, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353786]] [[140343845, 140343943], [140344050, 140344126], [140344374, 140344477], [140344627, 140344707], [140346816, 140346887], [140347004, 140347038], [140347187, 140347271], [140347507, 140347632], [140348182, 140348272], [140348842, 140348895], [140350862, 140350938], [140351858, 140352353], [140352939, 140353001], [140353483, 140353554]]
Promoter
Chrom Start End Description
chr9 140349856 140349859 CAGE_peak_36_at_NELF_5end
chr9 140349915 140349924 CAGE_peak_34_at_NELF_5end
chr9 140350189 140350212 CAGE_peak_30_at_NELF_5end
chr9 140351903 140351920 CAGE_peak_6_at_NELF_5end
chr9 140351928 140351971 CAGE_peak_3_at_NELF_5end
chr9 140352034 140352046 CAGE_peak_4_at_NELF_5end
chr9 140353748 140353795 CAGE_peak_1_at_NELF_5end
chr9 140353799 140353811 CAGE_peak_2_at_NELF_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I137221 137221486 137232704 2.85 [{'connected_gene': 'RNF224', 'score': 556.63}, {'connected_gene': 'SLC34A3', 'score': 555.96}, {'connected_gene': 'EHMT1', 'score': 17.44}, {'connected_gene': 'LOC651337', 'score': 15.59}, {'connected_gene': 'SDCCAG3', 'score': 15.1}, {'connected_gene': 'ANAPC2', 'score': 12.28}, {'connected_gene': 'RNF208', 'score': 7.2}, {'connected_gene': 'CYSRT1', 'score': 7.15}, {'connected_gene': 'NDOR1', 'score': 6.77}, {'connected_gene': 'MRPL41', 'score': 5.76}, {'connected_gene': 'GRIN1', 'score': 3.3}, {'connected_gene': 'FBXW5', 'score': 2.93}, {'connected_gene': 'NSMF', 'score': 2.57}, {'connected_gene': 'NPDC1', 'score': 2.53}, {'connected_gene': 'ARRDC1-AS1', 'score': 2.52}, {'connected_gene': 'DPH7', 'score': 1.92}, {'connected_gene': 'TPRN', 'score': 1.77}, {'connected_gene': 'NELFB', 'score': 1.57}, {'connected_gene': 'RABL6', 'score': 1.51}, {'connected_gene': 'ABCA2', 'score': 1.5}, {'connected_gene': 'TMEM203', 'score': 1.43}, {'connected_gene': 'SSNA1', 'score': 1.43}]
chr9 GH09I137446 137446815 137447992 0.84 [{'connected_gene': 'NSMF', 'score': 2.06}, {'connected_gene': 'EHMT1', 'score': 1.48}, {'connected_gene': 'ANAPC2', 'score': 1.3}, {'connected_gene': 'MIR7114', 'score': 0.77}, {'connected_gene': 'ENTPD8', 'score': 0.44}]
chr9 GH09I137456 137456145 137460725 2.15 [{'connected_gene': 'NSMF', 'score': 550.77}, {'connected_gene': 'MIR7114', 'score': 0.44}, {'connected_gene': 'PNPLA7', 'score': 0.16}]
chr9 GH09I137455 137455829 137455978 0.38 [{'connected_gene': 'NSMF', 'score': 0.77}, {'connected_gene': 'MIR7114', 'score': 0.44}]
chr9 GH09I137461 137461041 137463693 1.07 [{'connected_gene': 'NOXA1', 'score': 9.32}, {'connected_gene': 'PIR37479', 'score': 0.77}, {'connected_gene': 'NSMF', 'score': 0.77}, {'connected_gene': 'PNPLA7', 'score': 0.17}]
chr9 GH09I137453 137453597 137455749 1.64 [{'connected_gene': 'NOXA1', 'score': 12.49}, {'connected_gene': 'NSMF', 'score': 0.77}, {'connected_gene': 'MIR7114', 'score': 0.77}]
chr9 GH09I137233 137233373 137243238 2.65 [{'connected_gene': 'TUBB4B', 'score': 550.77}, {'connected_gene': 'EHMT1', 'score': 90.39}, {'connected_gene': 'SDCCAG3', 'score': 59.97}, {'connected_gene': 'ANAPC2', 'score': 50.98}, {'connected_gene': 'NDOR1', 'score': 50.56}, {'connected_gene': 'DPH7', 'score': 40.53}, {'connected_gene': 'INPP5E', 'score': 40.02}, {'connected_gene': 'LOC651337', 'score': 36.84}, {'connected_gene': 'MAN1B1', 'score': 26.89}, {'connected_gene': 'SNHG7', 'score': 26.01}, {'connected_gene': 'SEC16A', 'score': 26.0}, {'connected_gene': 'EXD3', 'score': 13.5}, {'connected_gene': 'TRAF2', 'score': 10.75}, {'connected_gene': 'TMEM203', 'score': 10.34}, {'connected_gene': 'RABL6', 'score': 10.31}, {'connected_gene': 'NELFB', 'score': 8.98}, {'connected_gene': 'LCN15', 'score': 8.35}, {'connected_gene': 'ABCA2', 'score': 7.81}, {'connected_gene': 'TOR4A', 'score': 6.36}, {'connected_gene': 'UAP1L1', 'score': 6.25}, {'connected_gene': 'RNF224', 'score': 5.79}, {'connected_gene': 'CYSRT1', 'score': 5.23}, {'connected_gene': 'MRPL41', 'score': 5.19}, {'connected_gene': 'ZMYND19', 'score': 4.53}, {'connected_gene': 'PNPLA7', 'score': 3.77}, {'connected_gene': 'TPRN', 'score': 3.5}, {'connected_gene': 'LCNL1', 'score': 3.04}, {'connected_gene': 'ENTPD8', 'score': 2.25}, {'connected_gene': 'RNF208', 'score': 1.83}, {'connected_gene': 'DPP7', 'score': 1.81}, {'connected_gene': 'GRIN1', 'score': 1.71}, {'connected_gene': 'AJM1', 'score': 1.66}, {'connected_gene': 'NPDC1', 'score': 1.59}, {'connected_gene': 'NOXA1', 'score': 1.58}, {'connected_gene': 'PTGDS', 'score': 1.41}, {'connected_gene': 'ENTPD2', 'score': 1.26}, {'connected_gene': 'NSMF', 'score': 1.23}, {'connected_gene': 'SLC34A3', 'score': 0.44}]
chr9 GH09I137450 137450024 137452568 0.95 [{'connected_gene': 'MIR7114', 'score': 550.77}, {'connected_gene': 'NOXA1', 'score': 8.49}, {'connected_gene': 'TOR4A', 'score': 4.56}, {'connected_gene': 'NSMF', 'score': 0.44}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.