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
ENST00000560241 [[81474940, 81475237], [81517639, 81518052], [81552112, 81552221], [81557999, 81558142], [81561878, 81561989], [81565430, 81565545], [81571157, 81571231], [81571898, 81572115], [81574979, 81575097], [81578038, 81578171], [81582244, 81582386], [81582793, 81582881], [81584264, 81585281]] [[81517740, 81518052], [81552112, 81552221], [81557999, 81558142], [81561878, 81561989], [81565430, 81565545], [81571157, 81571231], [81571898, 81572115], [81574979, 81575097], [81578038, 81578171], [81582244, 81582277]]
ENST00000559388 [[81475199, 81475237], [81480693, 81480744], [81492735, 81492811], [81517639, 81518052], [81552112, 81552221], [81557999, 81558142], [81561878, 81561989], [81565430, 81565545], [81571157, 81571231], [81571898, 81572115], [81574979, 81575097], [81578038, 81578171], [81582793, 81582881], [81584896, 81585240], [81589268, 81589419], [81591720, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598763, 81598886]] [[81517740, 81518052], [81552112, 81552221], [81557999, 81558142], [81561878, 81561989], [81565430, 81565545], [81571157, 81571231], [81571898, 81572115], [81574979, 81575097], [81578038, 81578171], [81582793, 81582881], [81584896, 81585240], [81589268, 81589419], [81591720, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598763, 81598886]]
ENST00000360547 [[81475200, 81475237], [81480693, 81480744], [81517639, 81518052], [81552112, 81552221], [81557999, 81558142], [81561878, 81561989], [81565430, 81565545], [81571157, 81571231], [81571898, 81572115], [81574979, 81575097], [81578038, 81578171], [81582793, 81582881], [81584264, 81585378], [81589268, 81589419], [81591720, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598760, 81598886], [81600945, 81601439]] [[81517740, 81518052], [81552112, 81552221], [81557999, 81558142], [81561878, 81561989], [81565430, 81565545], [81571157, 81571231], [81571898, 81572115], [81574979, 81575097], [81578038, 81578171], [81582793, 81582881], [81584264, 81584299]]
ENST00000559383 [[81489218, 81489493], [81517639, 81518052], [81552112, 81552221], [81557999, 81558142], [81561878, 81561989], [81565430, 81565545], [81571157, 81571231], [81571898, 81572115], [81574979, 81575097], [81578038, 81578171], [81582793, 81582881], [81584896, 81585258]] [[81517740, 81518052], [81552112, 81552221], [81557999, 81558142], [81561878, 81561989], [81565430, 81565545], [81571157, 81571231], [81571898, 81572115], [81574979, 81575097], [81578038, 81578171], [81582793, 81582881], [81584896, 81585258]]
ENST00000394660 [[81489219, 81489478], [81517639, 81518052], [81552112, 81552221], [81557999, 81558142], [81561878, 81561989], [81565430, 81565545], [81571157, 81571231], [81571898, 81572115], [81574979, 81575097], [81578038, 81578171], [81582793, 81582881], [81584896, 81585378], [81589268, 81589419], [81591720, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598763, 81598886], [81600945, 81605104]] [[81517740, 81518052], [81552112, 81552221], [81557999, 81558142], [81561878, 81561989], [81565430, 81565545], [81571157, 81571231], [81571898, 81572115], [81574979, 81575097], [81578038, 81578171], [81582793, 81582881], [81584896, 81585378], [81589268, 81589419], [81591720, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598763, 81598886], [81600945, 81601139]]
ENST00000302987 [[81517740, 81518052], [81552112, 81552221], [81557999, 81558142], [81561878, 81561989], [81565430, 81565545], [81571157, 81571231], [81571898, 81572115], [81574979, 81575097], [81578038, 81578171], [81582793, 81582881], [81584896, 81585378], [81589268, 81589419], [81591720, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598760, 81598886], [81600945, 81601139]] [[81517740, 81518052], [81552112, 81552221], [81557999, 81558142], [81561878, 81561989], [81565430, 81565545], [81571157, 81571231], [81571898, 81572115], [81574979, 81575097], [81578038, 81578171], [81582793, 81582881], [81584896, 81585378], [81589268, 81589419], [81591720, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598760, 81598886], [81600945, 81601139]]
ENST00000560989 [[81451915, 81452341], [81475105, 81475224]] None
ENST00000560115 [[81571218, 81571231], [81571898, 81572115], [81574979, 81575097], [81578038, 81578171], [81582793, 81582881], [81584264, 81585378], [81587672, 81587861], [81589268, 81589419], [81591720, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598763, 81598889]] [[81571218, 81571231], [81571898, 81572115], [81574979, 81575097], [81578038, 81578171], [81582793, 81582881], [81584264, 81584299]]
ENST00000394652 [[81589253, 81589419], [81591720, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598760, 81598886], [81600945, 81601424]] [[81591770, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598760, 81598886], [81600945, 81601139]]
ENST00000560230 [[81589310, 81589419], [81591884, 81592401]] None
ENST00000558857 [[81589328, 81589419], [81591644, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598760, 81598889]] [[81589328, 81589419], [81591644, 81591688]]
ENST00000558332 [[81591756, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598763, 81599193]] [[81591756, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598763, 81599008]]
ENST00000559342 [[81594427, 81594589], [81595889, 81595991], [81598248, 81598507], [81598760, 81598798]] None
ENST00000559953 [[81598086, 81598507], [81598763, 81598867]] None
NM_001172128 [[81489218, 81489478], [81517639, 81518052], [81552112, 81552221], [81557999, 81558142], [81561878, 81561989], [81565430, 81565545], [81571157, 81571231], [81571898, 81572115], [81574979, 81575097], [81578038, 81578171], [81582793, 81582881], [81584896, 81585378], [81589268, 81589419], [81591720, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598763, 81598886], [81600945, 81605104]] [[81517740, 81518052], [81552112, 81552221], [81557999, 81558142], [81561878, 81561989], [81565430, 81565545], [81571157, 81571231], [81571898, 81572115], [81574979, 81575097], [81578038, 81578171], [81582793, 81582881], [81584896, 81585378], [81589268, 81589419], [81591720, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598763, 81598886], [81600945, 81601139]]
NM_172217 [[81517639, 81518052], [81552112, 81552221], [81557999, 81558142], [81561878, 81561989], [81565430, 81565545], [81571157, 81571231], [81571898, 81572115], [81574979, 81575097], [81578038, 81578171], [81582793, 81582881], [81584896, 81585378], [81589268, 81589419], [81591720, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598760, 81598886], [81600945, 81605104]] [[81517740, 81518052], [81552112, 81552221], [81557999, 81558142], [81561878, 81561989], [81565430, 81565545], [81571157, 81571231], [81571898, 81572115], [81574979, 81575097], [81578038, 81578171], [81582793, 81582881], [81584896, 81585378], [81589268, 81589419], [81591720, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598760, 81598886], [81600945, 81601139]]
NM_004513 [[81589253, 81589419], [81591720, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598760, 81598886], [81600945, 81605104]] [[81591770, 81592816], [81593684, 81593853], [81595889, 81595991], [81598248, 81598507], [81598760, 81598886], [81600945, 81601139]]
Promoter
Chrom Start End Description
chr15 81451911 81451917 CAGE_peak_11_at_IL16_5end
chr15 81474771 81474784 CAGE_peak_13_at_IL16_5end
chr15 81474930 81474948 CAGE_peak_9_at_IL16_5end
chr15 81475047 81475102 CAGE_peak_5_at_IL16_5end
chr15 81489213 81489228 CAGE_peak_7_at_IL16_5end
chr15 81489280 81489292 CAGE_peak_15_at_IL16_5end
chr15 81489302 81489313 CAGE_peak_20_at_IL16_5end
chr15 81489344 81489353 CAGE_peak_31_at_IL16_5end
chr15 81585055 81585070 CAGE_peak_12_at_IL16_5end
chr15 81585088 81585114 CAGE_peak_4_at_IL16_5end
chr15 81587356 81587360 CAGE_peak_19_at_IL16_5end
chr15 81589254 81589272 CAGE_peak_2_at_IL16_5end
chr15 81589277 81589337 CAGE_peak_1_at_IL16_5end
chr15 81589344 81589375 CAGE_peak_3_at_IL16_5end
chr15 81591764 81591780 CAGE_peak_14_at_IL16_5end
chr15 81592487 81592496 CAGE_peak_17_at_IL16_5end
chr15 81592512 81592540 CAGE_peak_6_at_IL16_5end
chr15 81594418 81594442 CAGE_peak_8_at_IL16_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I081290 81290134 81290657 0.66 [{'connected_gene': 'STARD5', 'score': 12.53}, {'connected_gene': 'TMC3', 'score': 10.86}, {'connected_gene': 'ENSG00000271725', 'score': 6.19}, {'connected_gene': 'PIR39910', 'score': 0.44}, {'connected_gene': 'GC15P081268', 'score': 0.34}, {'connected_gene': 'IL16', 'score': 0.12}]
chr15 GH15I081284 81284286 81289427 1.24 [{'connected_gene': 'TLNRD1', 'score': 20.28}, {'connected_gene': 'STARD5', 'score': 18.57}, {'connected_gene': 'TMC3', 'score': 10.86}, {'connected_gene': 'ENSG00000271725', 'score': 5.53}, {'connected_gene': 'IL16', 'score': 4.94}, {'connected_gene': 'PIR39910', 'score': 0.44}, {'connected_gene': 'GC15P081268', 'score': 0.37}]
chr15 GH15I081085 81085340 81085489 0.75 [{'connected_gene': 'TLNRD1', 'score': 12.17}, {'connected_gene': 'IL16', 'score': 5.52}, {'connected_gene': 'GC15P081073', 'score': 0.39}, {'connected_gene': 'ANP32BP3', 'score': 0.29}, {'connected_gene': 'CFAP161', 'score': 0.18}]
chr15 GH15I081310 81310539 81316612 1.41 [{'connected_gene': 'TLNRD1', 'score': 14.2}, {'connected_gene': 'TMC3', 'score': 10.86}, {'connected_gene': 'ENSG00000271725', 'score': 7.35}, {'connected_gene': 'STARD5', 'score': 6.77}, {'connected_gene': 'IL16', 'score': 2.88}, {'connected_gene': 'PIR43838', 'score': 0.77}, {'connected_gene': 'GC15P081312', 'score': 0.77}, {'connected_gene': 'GC15P081268', 'score': 0.25}]
chr15 GH15I081113 81113603 81114538 0.64 [{'connected_gene': 'TLNRD1', 'score': 11.13}, {'connected_gene': 'TMC3', 'score': 10.74}, {'connected_gene': 'IL16', 'score': 5.27}, {'connected_gene': 'ANP32BP3', 'score': 0.77}, {'connected_gene': 'GC15P081073', 'score': 0.26}, {'connected_gene': 'CFAP161', 'score': 0.14}]
chr15 GH15I081291 81291014 81305749 2.41 [{'connected_gene': 'IL16', 'score': 560.87}, {'connected_gene': 'PIR47037', 'score': 550.77}, {'connected_gene': 'PIR53519', 'score': 550.77}, {'connected_gene': 'TLNRD1', 'score': 22.12}, {'connected_gene': 'STARD5', 'score': 22.01}, {'connected_gene': 'TMC3', 'score': 10.76}, {'connected_gene': 'ENSG00000271725', 'score': 7.62}, {'connected_gene': 'PIR39910', 'score': 0.77}, {'connected_gene': 'GC15P081268', 'score': 0.29}]
chr15 GH15I081096 81096868 81099756 1.1 [{'connected_gene': 'IL16', 'score': 5.55}, {'connected_gene': 'ANP32BP3', 'score': 0.34}, {'connected_gene': 'GC15P081073', 'score': 0.31}, {'connected_gene': 'CFAP161', 'score': 0.16}]
chr15 GH15I081091 81091880 81093454 1.12 [{'connected_gene': 'IL16', 'score': 5.23}, {'connected_gene': 'GC15P081073', 'score': 0.34}, {'connected_gene': 'ANP32BP3', 'score': 0.31}, {'connected_gene': 'CFAP161', 'score': 0.17}]
chr15 GH15I081197 81197670 81197729 0.5 [{'connected_gene': 'IL16', 'score': 550.28}, {'connected_gene': 'GC15M081198', 'score': 0.77}, {'connected_gene': 'GC15P081164', 'score': 0.29}]
chr15 GH15I081189 81189247 81191967 0.89 [{'connected_gene': 'IL16', 'score': 6.48}, {'connected_gene': 'GC15M081198', 'score': 0.44}, {'connected_gene': 'GC15P081164', 'score': 0.31}]
chr15 GH15I081274 81274801 81276696 1.19 [{'connected_gene': 'IL16', 'score': 6.27}, {'connected_gene': 'GC15P081268', 'score': 0.44}, {'connected_gene': 'PIR39910', 'score': 0.34}]
chr15 GH15I081196 81196830 81196889 0.5 [{'connected_gene': 'IL16', 'score': 550.28}, {'connected_gene': 'GC15M081198', 'score': 0.77}, {'connected_gene': 'GC15P081164', 'score': 0.29}]
chr15 GH15I081160 81160209 81161841 0.76 [{'connected_gene': 'IL16', 'score': 550.77}, {'connected_gene': 'GC15P081164', 'score': 0.77}]
chr15 GH15I081157 81157324 81157706 0.2 [{'connected_gene': 'IL16', 'score': 0.77}, {'connected_gene': 'PIR43778', 'score': 0.44}]
chr15 GH15I081265 81265360 81265489 0.43 [{'connected_gene': 'TMC3', 'score': 10.78}, {'connected_gene': 'MESD', 'score': 10.35}, {'connected_gene': 'GC15P081268', 'score': 0.77}, {'connected_gene': 'GC15M081220', 'score': 0.26}, {'connected_gene': 'IL16', 'score': 0.14}]
chr15 GH15I080838 80838222 80840000 1.28 [{'connected_gene': 'ST20-AS1', 'score': 4.97}, {'connected_gene': 'IL16', 'score': 2.01}, {'connected_gene': 'MIR549A', 'score': 0.77}, {'connected_gene': 'GC15P080826', 'score': 0.39}, {'connected_gene': 'CEMIP', 'score': 0.22}]
chr15 GH15I081235 81235449 81236952 0.84 [{'connected_gene': 'CFAP161', 'score': 11.31}, {'connected_gene': 'IL16', 'score': 5.54}, {'connected_gene': 'GC15M081220', 'score': 0.39}, {'connected_gene': 'GC15P081268', 'score': 0.29}]
chr15 GH15I081913 81913345 81916338 0.67 [{'connected_gene': 'WHAMM', 'score': 14.95}, {'connected_gene': 'IL16', 'score': 10.54}, {'connected_gene': 'GC15P081908', 'score': 0.44}, {'connected_gene': 'GC15P081965', 'score': 0.23}, {'connected_gene': 'LOC102724001', 'score': 0.23}]
chr15 GH15I081116 81116080 81117345 0.38 [{'connected_gene': 'ANP32BP3', 'score': 550.77}, {'connected_gene': 'TLNRD1', 'score': 11.12}, {'connected_gene': 'TMC3', 'score': 10.75}, {'connected_gene': 'IL16', 'score': 5.46}, {'connected_gene': 'FAH', 'score': 4.19}, {'connected_gene': 'GC15P081073', 'score': 0.25}, {'connected_gene': 'CFAP161', 'score': 0.14}]
chr15 GH15I081182 81182013 81183717 0.86 [{'connected_gene': 'GC15M081198', 'score': 0.37}, {'connected_gene': 'GC15P081164', 'score': 0.37}, {'connected_gene': 'IL16', 'score': 0.34}]
chr15 GH15I081225 81225260 81225409 0.31 [{'connected_gene': 'GC15M081220', 'score': 0.77}, {'connected_gene': 'GC15P081268', 'score': 0.26}, {'connected_gene': 'IL16', 'score': 0.2}]
chr15 GH15I081165 81165700 81165849 0.2 [{'connected_gene': 'GC15P081164', 'score': 550.77}, {'connected_gene': 'IL16', 'score': 0.44}, {'connected_gene': 'GC15M081198', 'score': 0.29}]
chr15 GH15I081221 81221860 81221994 0.2 [{'connected_gene': 'GC15M081220', 'score': 550.77}, {'connected_gene': 'GC15P081225', 'score': 550.77}, {'connected_gene': 'IL16', 'score': 0.21}]
chr15 GH15I081176 81176300 81176449 0.2 [{'connected_gene': 'GC15P081164', 'score': 0.39}, {'connected_gene': 'IL16', 'score': 0.37}, {'connected_gene': 'GC15M081198', 'score': 0.34}]
chr15 GH15I081167 81167340 81167489 0.8 [{'connected_gene': 'GC15P081164', 'score': 0.77}, {'connected_gene': 'IL16', 'score': 0.44}, {'connected_gene': 'GC15M081198', 'score': 0.29}]
chr15 GH15I081195 81195420 81195569 0.38 [{'connected_gene': 'GC15M081198', 'score': 0.77}, {'connected_gene': 'GC15P081164', 'score': 0.29}, {'connected_gene': 'IL16', 'score': 0.28}]
chr15 GH15I081184 81184260 81184469 0.4 [{'connected_gene': 'GC15M081198', 'score': 0.37}, {'connected_gene': 'IL16', 'score': 0.34}, {'connected_gene': 'GC15P081164', 'score': 0.34}]
chr15 GH15I081163 81163732 81165459 1.07 [{'connected_gene': 'GC15P081164', 'score': 550.77}, {'connected_gene': 'IL16', 'score': 0.44}, {'connected_gene': 'GC15M081198', 'score': 0.28}]
chr15 GH15I081306 81306867 81309862 0.31 [{'connected_gene': 'ENSG00000271725', 'score': 558.23}, {'connected_gene': 'PIR34625', 'score': 550.77}, {'connected_gene': 'TMC3', 'score': 10.42}, {'connected_gene': 'STARD5', 'score': 6.51}, {'connected_gene': 'IL16', 'score': 6.04}, {'connected_gene': 'PIR47037', 'score': 0.44}, {'connected_gene': 'GC15P081268', 'score': 0.26}]
chr15 GH15I081280 81280417 81283358 1.04 [{'connected_gene': 'ENSG00000259649', 'score': 12.75}, {'connected_gene': 'SAXO2', 'score': 5.65}, {'connected_gene': 'IL16', 'score': 5.44}, {'connected_gene': 'GC15P081268', 'score': 0.39}, {'connected_gene': 'PIR39910', 'score': 0.39}]
chr15 GH15I081268 81268501 81270048 0.46 [{'connected_gene': 'GC15P081268', 'score': 550.77}, {'connected_gene': 'MESD', 'score': 11.48}, {'connected_gene': 'IL16', 'score': 5.73}, {'connected_gene': 'PIR39910', 'score': 0.31}]
chr15 GH15I081266 81265601 81266748 1.07 [{'connected_gene': 'GC15P081268', 'score': 550.77}, {'connected_gene': 'MESD', 'score': 11.48}, {'connected_gene': 'TMC3', 'score': 10.78}, {'connected_gene': 'IL16', 'score': 6.28}, {'connected_gene': 'GC15M081220', 'score': 0.26}]

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