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
ENST00000405486 [[41641614, 41642676], [41645333, 41645455], [41645732, 41645821], [41647010, 41647113], [41648875, 41648995], [41650311, 41650498], [41652024, 41652109], [41652194, 41652294], [41652714, 41652828], [41653951, 41654110], [41657449, 41657584], [41660667, 41660847], [41664100, 41664160], [41670603, 41670731], [41676936, 41677086], [41680904, 41681157], [41681547, 41681969]] [[41642606, 41642676], [41645333, 41645455], [41645732, 41645821], [41647010, 41647113], [41648875, 41648995], [41650311, 41650498], [41652024, 41652109], [41652194, 41652294], [41652714, 41652828], [41653951, 41654110], [41657449, 41657584], [41660667, 41660847], [41664100, 41664160], [41670603, 41670731], [41676936, 41677048]]
ENST00000356244 [[41641614, 41642676], [41645333, 41645455], [41645732, 41645821], [41647010, 41647113], [41648875, 41648995], [41650311, 41650498], [41652024, 41652109], [41652194, 41652294], [41652714, 41652828], [41653951, 41654110], [41657449, 41657584], [41660667, 41660847], [41664100, 41664160], [41670603, 41670731], [41676936, 41677086], [41681989, 41682255]] [[41642606, 41642676], [41645333, 41645455], [41645732, 41645821], [41647010, 41647113], [41648875, 41648995], [41650311, 41650498], [41652024, 41652109], [41652194, 41652294], [41652714, 41652828], [41653951, 41654110], [41657449, 41657584], [41660667, 41660847], [41664100, 41664160], [41670603, 41670731], [41676936, 41677048]]
ENST00000422838 [[41676936, 41677086], [41680904, 41681157], [41681366, 41681909]] [[41676936, 41677048]]
ENST00000455915 [[41641618, 41642676], [41645333, 41645455], [41645732, 41645821], [41647010, 41647113], [41648875, 41648995], [41650311, 41650498], [41652024, 41652109], [41652194, 41652294], [41652714, 41652828], [41653951, 41654110], [41657449, 41657584], [41660667, 41660847], [41664100, 41664160], [41670603, 41670731], [41676936, 41678518]] [[41642606, 41642676], [41645333, 41645455], [41645732, 41645821], [41647010, 41647113], [41648875, 41648995], [41650311, 41650498], [41652024, 41652109], [41652194, 41652294], [41652714, 41652828], [41653951, 41654110], [41657449, 41657584], [41660667, 41660847], [41664100, 41664160], [41670603, 41670731], [41676936, 41677048]]
ENST00000407260 [[41642446, 41642676], [41645333, 41645455], [41645732, 41645821], [41647010, 41647113], [41648875, 41648995], [41650311, 41650498], [41652024, 41652109], [41652194, 41652294], [41652714, 41652828], [41653951, 41654110], [41660667, 41660847], [41664100, 41664160], [41670603, 41670731], [41673478, 41673501], [41676681, 41676773]] [[41642606, 41642676], [41645333, 41645455], [41645732, 41645821], [41647010, 41647113], [41648875, 41648995], [41650311, 41650498], [41652024, 41652109], [41652194, 41652294], [41652714, 41652828], [41653951, 41654110], [41660667, 41660847], [41664100, 41664160], [41670603, 41670731], [41673478, 41673501], [41676681, 41676740]]
ENST00000446258 [[41652024, 41652109], [41652194, 41652294], [41652714, 41652828], [41653951, 41654110], [41660667, 41660847], [41664100, 41664160], [41670603, 41670664]] [[41652024, 41652109], [41652194, 41652294], [41652714, 41652828], [41653951, 41654110], [41660667, 41660847], [41664100, 41664160], [41670603, 41670664]]
ENST00000452543 [[41660747, 41660847], [41664100, 41664160], [41670603, 41670731], [41676936, 41677086], [41677460, 41677625]] [[41660747, 41660847], [41664100, 41664160], [41670603, 41670731], [41676936, 41677048]]
ENST00000418067 [[41664100, 41664160], [41670603, 41670731], [41676936, 41677216], [41677460, 41677642]] [[41664100, 41664160], [41670603, 41670731], [41676936, 41677048]]
NM_001278651 [[41640780, 41642676], [41645333, 41645455], [41645732, 41645821], [41647010, 41647113], [41648875, 41648995], [41650311, 41650498], [41652024, 41652109], [41652194, 41652294], [41652714, 41652828], [41653951, 41654110], [41657449, 41657584], [41660667, 41660847], [41664100, 41664160], [41670603, 41670731], [41676936, 41677086], [41680904, 41681157], [41681547, 41682021]] [[41642606, 41642676], [41645333, 41645455], [41645732, 41645821], [41647010, 41647113], [41648875, 41648995], [41650311, 41650498], [41652024, 41652109], [41652194, 41652294], [41652714, 41652828], [41653951, 41654110], [41657449, 41657584], [41660667, 41660847], [41664100, 41664160], [41670603, 41670731], [41676936, 41677048]]
NM_002883 [[41640780, 41642676], [41645333, 41645455], [41645732, 41645821], [41647010, 41647113], [41648875, 41648995], [41650311, 41650498], [41652024, 41652109], [41652194, 41652294], [41652714, 41652828], [41653951, 41654110], [41657449, 41657584], [41660667, 41660847], [41664100, 41664160], [41670603, 41670731], [41676936, 41677086], [41681989, 41682255]] [[41642606, 41642676], [41645333, 41645455], [41645732, 41645821], [41647010, 41647113], [41648875, 41648995], [41650311, 41650498], [41652024, 41652109], [41652194, 41652294], [41652714, 41652828], [41653951, 41654110], [41657449, 41657584], [41660667, 41660847], [41664100, 41664160], [41670603, 41670731], [41676936, 41677048]]
NM_001317930 [[41640780, 41642676], [41645333, 41645455], [41645732, 41645821], [41647010, 41647113], [41648875, 41648995], [41650311, 41650498], [41652024, 41652109], [41652194, 41652294], [41652714, 41652828], [41653951, 41654110], [41657449, 41657584], [41660667, 41660847], [41664100, 41664160], [41670603, 41670731], [41676936, 41677086], [41698036, 41698217]] [[41642606, 41642676], [41645333, 41645455], [41645732, 41645821], [41647010, 41647113], [41648875, 41648995], [41650311, 41650498], [41652024, 41652109], [41652194, 41652294], [41652714, 41652828], [41653951, 41654110], [41657449, 41657584], [41660667, 41660847], [41664100, 41664160], [41670603, 41670731], [41676936, 41677048]]
Promoter
Chrom Start End Description
chr22 41677636 41677652 CAGE_peak_4_at_RANGAP1_5end
chr22 41682172 41682230 CAGE_peak_1_at_RANGAP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I041200 41200777 41201860 0.2 [{'connected_gene': 'XPNPEP3', 'score': 14.74}, {'connected_gene': 'RNU6-375P', 'score': 12.11}, {'connected_gene': 'ST13', 'score': 9.72}, {'connected_gene': 'LOC100506544', 'score': 6.88}, {'connected_gene': 'RANGAP1', 'score': 4.63}, {'connected_gene': 'EP300-AS1', 'score': 0.77}, {'connected_gene': 'L3MBTL2', 'score': 0.77}]
chr22 GH22I041281 41281629 41281688 0.5 [{'connected_gene': 'RANGAP1', 'score': 562.59}, {'connected_gene': 'ENSG00000232754', 'score': 11.51}, {'connected_gene': 'L3MBTL2', 'score': 11.48}, {'connected_gene': 'RNU6-375P', 'score': 10.97}, {'connected_gene': 'CSDC2', 'score': 10.7}, {'connected_gene': 'GC22M042652', 'score': 0.39}, {'connected_gene': 'MIR6889', 'score': 0.31}]
chr22 GH22I041280 41280197 41280346 0.2 [{'connected_gene': 'RANGAP1', 'score': 12.59}, {'connected_gene': 'ZC3H7B', 'score': 12.59}, {'connected_gene': 'ENSG00000232754', 'score': 11.51}, {'connected_gene': 'L3MBTL2', 'score': 11.48}, {'connected_gene': 'RNU6-375P', 'score': 10.97}, {'connected_gene': 'CSDC2', 'score': 10.7}, {'connected_gene': 'GC22M042652', 'score': 0.39}, {'connected_gene': 'MIR6889', 'score': 0.31}]
chr22 GH22I041260 41260157 41260530 0.31 [{'connected_gene': 'RANGAP1', 'score': 12.13}, {'connected_gene': 'ZC3H7B', 'score': 12.13}, {'connected_gene': 'RNU6-375P', 'score': 11.51}, {'connected_gene': 'MEI1', 'score': 10.24}, {'connected_gene': 'MIR6889', 'score': 0.44}, {'connected_gene': 'GC22M042652', 'score': 0.29}]
chr22 GH22I041284 41284288 41292353 2.6 [{'connected_gene': 'RANGAP1', 'score': 563.71}, {'connected_gene': 'EP300', 'score': 40.11}, {'connected_gene': 'ENSG00000272834', 'score': 39.91}, {'connected_gene': 'ENSG00000232754', 'score': 27.89}, {'connected_gene': 'ENSG00000227413', 'score': 26.42}, {'connected_gene': 'XRCC6', 'score': 24.13}, {'connected_gene': 'L3MBTL2', 'score': 22.8}, {'connected_gene': 'NAGA', 'score': 22.38}, {'connected_gene': 'EP300-AS1', 'score': 22.38}, {'connected_gene': 'ZC3H7B', 'score': 21.03}, {'connected_gene': 'RPL4P6', 'score': 20.64}, {'connected_gene': 'PHF5A', 'score': 20.41}, {'connected_gene': 'MKL1', 'score': 18.87}, {'connected_gene': 'TEF', 'score': 15.77}, {'connected_gene': 'LOC100506544', 'score': 14.31}, {'connected_gene': 'NDUFA6-AS1', 'score': 11.28}, {'connected_gene': 'MEI1', 'score': 10.5}, {'connected_gene': 'SMDT1', 'score': 10.31}, {'connected_gene': 'LOC100313968', 'score': 9.89}, {'connected_gene': 'PMM1', 'score': 6.08}, {'connected_gene': 'CYP2D7', 'score': 4.35}, {'connected_gene': 'DESI1', 'score': 2.23}, {'connected_gene': 'GC22M042652', 'score': 0.77}, {'connected_gene': 'MIR6889', 'score': 0.28}]
chr22 GH22I041047 41047573 41050067 1.04 [{'connected_gene': 'RANGAP1', 'score': 7.11}, {'connected_gene': 'MEI1', 'score': 6.8}, {'connected_gene': 'LOC100506544', 'score': 4.82}, {'connected_gene': 'ENSG00000222698', 'score': 0.77}, {'connected_gene': 'RPS9P2', 'score': 0.37}]
chr22 GH22I041261 41260832 41266581 0.59 [{'connected_gene': 'RANGAP1', 'score': 23.96}, {'connected_gene': 'LOC100506544', 'score': 14.2}, {'connected_gene': 'ZC3H7B', 'score': 12.15}, {'connected_gene': 'RNU6-375P', 'score': 11.5}, {'connected_gene': 'MEI1', 'score': 10.49}, {'connected_gene': 'SGSM3', 'score': 4.29}, {'connected_gene': 'MIR6889', 'score': 0.39}, {'connected_gene': 'GC22M042652', 'score': 0.31}]
chr22 GH22I041028 41028119 41029626 0.82 [{'connected_gene': 'RANGAP1', 'score': 5.51}, {'connected_gene': 'PIR38009', 'score': 0.44}, {'connected_gene': 'ENSG00000222698', 'score': 0.37}]
chr22 GH22I041559 41559609 41566555 1.84 [{'connected_gene': 'CSDC2', 'score': 565.63}, {'connected_gene': 'MEI1', 'score': 23.73}, {'connected_gene': 'POLR3H', 'score': 21.21}, {'connected_gene': 'DESI1', 'score': 11.55}, {'connected_gene': 'XRCC6', 'score': 11.55}, {'connected_gene': 'PHF5A', 'score': 10.51}, {'connected_gene': 'SLC25A17', 'score': 9.73}, {'connected_gene': 'EP300', 'score': 9.72}, {'connected_gene': 'RANGAP1', 'score': 4.87}, {'connected_gene': 'CENPM', 'score': 4.43}, {'connected_gene': 'LOC105373044', 'score': 0.77}, {'connected_gene': 'GC22M042641', 'score': 0.44}]
chr22 GH22I041300 41300737 41305139 2.18 [{'connected_gene': 'ZC3H7B', 'score': 550.77}, {'connected_gene': 'RANGAP1', 'score': 550.77}, {'connected_gene': 'GC22P041304', 'score': 550.77}, {'connected_gene': 'LOC100506544', 'score': 14.18}, {'connected_gene': 'MEI1', 'score': 12.77}, {'connected_gene': 'TEF', 'score': 10.54}, {'connected_gene': 'CYP2D7', 'score': 6.7}, {'connected_gene': 'SGSM3', 'score': 4.13}]
chr22 GH22I041242 41242279 41245740 0.59 [{'connected_gene': 'EP300', 'score': 16.61}, {'connected_gene': 'PHF5A', 'score': 12.75}, {'connected_gene': 'ENSG00000272834', 'score': 12.1}, {'connected_gene': 'ENSG00000232754', 'score': 11.48}, {'connected_gene': 'XRCC6', 'score': 11.09}, {'connected_gene': 'TEF', 'score': 9.11}, {'connected_gene': 'RANGAP1', 'score': 6.3}, {'connected_gene': 'CHADL', 'score': 5.92}, {'connected_gene': 'ZC3H7B', 'score': 5.36}, {'connected_gene': 'FAM109B', 'score': 4.14}, {'connected_gene': 'MIR6889', 'score': 0.44}]
chr22 GH22I041090 41090531 41095201 2.07 [{'connected_gene': 'EP300', 'score': 596.97}, {'connected_gene': 'MIR1281', 'score': 550.77}, {'connected_gene': 'PHF5A', 'score': 34.12}, {'connected_gene': 'ENSG00000272834', 'score': 31.7}, {'connected_gene': 'L3MBTL2', 'score': 25.42}, {'connected_gene': 'XRCC6', 'score': 23.44}, {'connected_gene': 'LOC100506544', 'score': 19.85}, {'connected_gene': 'EP300-AS1', 'score': 16.18}, {'connected_gene': 'ENSG00000232754', 'score': 15.17}, {'connected_gene': 'ENSG00000227413', 'score': 14.53}, {'connected_gene': 'TOB2', 'score': 13.65}, {'connected_gene': 'NAGA', 'score': 11.61}, {'connected_gene': 'SLC25A17', 'score': 10.91}, {'connected_gene': 'RPL4P6', 'score': 10.55}, {'connected_gene': 'MKL1', 'score': 10.25}, {'connected_gene': 'ZC3H7B', 'score': 10.15}, {'connected_gene': 'LOC100313968', 'score': 9.91}, {'connected_gene': 'MEI1', 'score': 8.86}, {'connected_gene': 'RANGAP1', 'score': 5.68}, {'connected_gene': 'GC22M042622', 'score': 0.23}]
chr22 GH22I041512 41510053 41510733 0.2 [{'connected_gene': 'POLR3H', 'score': 21.17}, {'connected_gene': 'CSDC2', 'score': 11.22}, {'connected_gene': 'RANGAP1', 'score': 10.53}, {'connected_gene': 'ZC3H7B', 'score': 10.53}, {'connected_gene': 'RNU6-375P', 'score': 10.47}, {'connected_gene': 'PIR38077', 'score': 0.77}, {'connected_gene': 'PIR57348', 'score': 0.37}, {'connected_gene': 'ACO2', 'score': 0.26}]
chr22 GH22I041671 41671829 41673587 0.85 [{'connected_gene': 'MEI1', 'score': 22.59}, {'connected_gene': 'L3MBTL2', 'score': 12.48}, {'connected_gene': 'NDUFA6-AS1', 'score': 10.31}, {'connected_gene': 'PMM1', 'score': 9.42}, {'connected_gene': 'RANGAP1', 'score': 4.77}, {'connected_gene': 'PIR47284', 'score': 0.77}, {'connected_gene': 'PIR49915', 'score': 0.34}]
chr22 GH22I041052 41052387 41053578 0.66 [{'connected_gene': 'MEI1', 'score': 6.79}, {'connected_gene': 'RANGAP1', 'score': 6.51}, {'connected_gene': 'ENSG00000222698', 'score': 0.44}, {'connected_gene': 'RPS9P2', 'score': 0.39}]
chr22 GH22I041271 41271802 41272846 0.2 [{'connected_gene': 'MIR6889', 'score': 0.37}, {'connected_gene': 'GC22M042652', 'score': 0.34}, {'connected_gene': 'RANGAP1', 'score': 0.31}]
chr22 GH22I041273 41273852 41275835 0.38 [{'connected_gene': 'LOC100506544', 'score': 14.28}, {'connected_gene': 'ZC3H7B', 'score': 12.57}, {'connected_gene': 'RANGAP1', 'score': 12.57}, {'connected_gene': 'ENSG00000232754', 'score': 11.52}, {'connected_gene': 'L3MBTL2', 'score': 11.5}, {'connected_gene': 'RNU6-375P', 'score': 10.98}, {'connected_gene': 'CSDC2', 'score': 10.7}, {'connected_gene': 'SGSM3', 'score': 4.43}, {'connected_gene': 'MEI1', 'score': 4.05}, {'connected_gene': 'GC22M042652', 'score': 0.37}, {'connected_gene': 'MIR6889', 'score': 0.34}]
chr22 GH22I041247 41247326 41248407 0.57 [{'connected_gene': 'LOC100506544', 'score': 15.74}, {'connected_gene': 'MEI1', 'score': 8.37}, {'connected_gene': 'NAGA', 'score': 6.27}, {'connected_gene': 'ENSG00000272834', 'score': 4.73}, {'connected_gene': 'MIR6889', 'score': 0.44}, {'connected_gene': 'CHADL', 'score': 0.44}, {'connected_gene': 'RANGAP1', 'score': 0.23}]
chr22 GH22I041255 41255665 41258739 0.89 [{'connected_gene': 'LOC100506544', 'score': 14.47}, {'connected_gene': 'MEI1', 'score': 9.93}, {'connected_gene': 'ZC3H7B', 'score': 6.97}, {'connected_gene': 'ENSG00000272834', 'score': 4.8}, {'connected_gene': 'MIR6889', 'score': 0.77}, {'connected_gene': 'GC22M042652', 'score': 0.28}, {'connected_gene': 'RANGAP1', 'score': 0.25}]
chr22 GH22I041020 41020517 41023841 1.8 [{'connected_gene': 'PIR38009', 'score': 550.77}, {'connected_gene': 'L3MBTL2', 'score': 14.98}, {'connected_gene': 'MEI1', 'score': 8.16}, {'connected_gene': 'RANGAP1', 'score': 5.5}, {'connected_gene': 'XPNPEP3', 'score': 5.4}, {'connected_gene': 'EP300', 'score': 3.65}, {'connected_gene': 'MKL1', 'score': 1.99}, {'connected_gene': 'GC22P041019', 'score': 0.77}]
chr22 GH22I041509 41509363 41509750 0.2 [{'connected_gene': 'PIR38077', 'score': 550.77}, {'connected_gene': 'CSDC2', 'score': 11.22}, {'connected_gene': 'RANGAP1', 'score': 10.53}, {'connected_gene': 'ZC3H7B', 'score': 10.53}, {'connected_gene': 'RNU6-375P', 'score': 10.47}, {'connected_gene': 'PIR57348', 'score': 0.37}, {'connected_gene': 'ACO2', 'score': 0.26}]
chr22 GH22I041506 41506507 41507381 0.31 [{'connected_gene': 'PIR38077', 'score': 550.77}, {'connected_gene': 'CSDC2', 'score': 11.38}, {'connected_gene': 'RANGAP1', 'score': 10.53}, {'connected_gene': 'ZC3H7B', 'score': 10.53}, {'connected_gene': 'RNU6-375P', 'score': 10.47}, {'connected_gene': 'PIR44656', 'score': 0.44}, {'connected_gene': 'ACO2', 'score': 0.28}]
chr22 GH22I041510 41508120 41508702 0.2 [{'connected_gene': 'PIR38077', 'score': 550.77}, {'connected_gene': 'CSDC2', 'score': 11.22}, {'connected_gene': 'RANGAP1', 'score': 10.53}, {'connected_gene': 'ZC3H7B', 'score': 10.53}, {'connected_gene': 'RNU6-375P', 'score': 10.47}, {'connected_gene': 'PIR57348', 'score': 0.37}, {'connected_gene': 'ACO2', 'score': 0.28}]
chr22 GH22I041508 41508774 41508957 0.42 [{'connected_gene': 'PIR38077', 'score': 550.77}, {'connected_gene': 'CSDC2', 'score': 11.22}, {'connected_gene': 'ZC3H7B', 'score': 10.53}, {'connected_gene': 'RANGAP1', 'score': 10.53}, {'connected_gene': 'RNU6-375P', 'score': 10.47}, {'connected_gene': 'CHADL', 'score': 4.86}, {'connected_gene': 'TEF', 'score': 3.68}, {'connected_gene': 'TOB2', 'score': 1.56}, {'connected_gene': 'WBP2NL', 'score': 1.52}, {'connected_gene': 'SEPT3', 'score': 1.42}, {'connected_gene': 'PIR57348', 'score': 0.37}, {'connected_gene': 'ACO2', 'score': 0.28}]
chr22 GH22I041570 41570061 41570735 0.4 [{'connected_gene': 'GC22M042641', 'score': 550.77}, {'connected_gene': 'MEI1', 'score': 15.18}, {'connected_gene': 'DESI1', 'score': 11.72}, {'connected_gene': 'XRCC6', 'score': 11.72}, {'connected_gene': 'RANGAP1', 'score': 4.86}, {'connected_gene': 'LOC105373044', 'score': 0.44}, {'connected_gene': 'CSDC2', 'score': 0.44}]
chr22 GH22I041246 41246217 41246346 0.79 [{'connected_gene': 'ENSG00000272834', 'score': 4.79}, {'connected_gene': 'CHADL', 'score': 0.77}, {'connected_gene': 'MIR6889', 'score': 0.44}, {'connected_gene': 'RANGAP1', 'score': 0.22}]
chr22 GH22I041180 41180730 41182729 0.76 [{'connected_gene': 'ENSG00000232754', 'score': 550.77}, {'connected_gene': 'LOC100506544', 'score': 17.75}, {'connected_gene': 'RANGAP1', 'score': 5.82}, {'connected_gene': 'RNU6-375P', 'score': 0.39}, {'connected_gene': 'EP300-AS1', 'score': 0.37}]

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