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
ENST00000261658 [[14726671, 14726875], [14738130, 14738466], [14742244, 14742449], [14743660, 14743830], [14748922, 14749067], [14755748, 14755922], [14758725, 14758928], [14761491, 14763093]] [[14738203, 14738466], [14742244, 14742449], [14743660, 14743830], [14748922, 14749067], [14755748, 14755922], [14758725, 14758928], [14761491, 14761684]]
ENST00000566520 [[14726787, 14726875], [14738130, 14738466], [14743660, 14744413]] None
ENST00000563971 [[14726787, 14726875], [14738130, 14738466], [14748922, 14749067], [14755748, 14755922], [14758725, 14758928], [14761491, 14762207]] [[14738203, 14738466], [14748922, 14749067], [14755748, 14755922], [14758725, 14758928], [14761491, 14761684]]
ENST00000562442 [[14726788, 14726875], [14738130, 14738466], [14742244, 14742449], [14743660, 14744428]] None
ENST00000562121 [[14726799, 14726875], [14738130, 14738466], [14742244, 14742449], [14748922, 14749028]] None
ENST00000563313 [[14726830, 14726875], [14738130, 14738466], [14755748, 14755922], [14758725, 14758876]] [[14738203, 14738466], [14755748, 14755755]]
ENST00000570219 [[14727019, 14727340], [14738130, 14738466], [14742244, 14742309]] [[14738203, 14738466], [14742244, 14742309]]
ENST00000426842 [[14738144, 14738466], [14743660, 14743830], [14748922, 14749067], [14755748, 14755922], [14758725, 14758928], [14761491, 14761925]] [[14738382, 14738466], [14743660, 14743830], [14748922, 14749067], [14755748, 14755922], [14758725, 14758928], [14761491, 14761684]]
ENST00000566710 [[14738144, 14738466], [14743660, 14743830], [14748922, 14749067], [14755748, 14755922], [14758725, 14758928], [14761491, 14761925]] [[14738203, 14738466], [14743660, 14743823]]
ENST00000562545 [[14742400, 14742449], [14755748, 14755922], [14758725, 14758928], [14761491, 14761694]] [[14742400, 14742449], [14755748, 14755922], [14758725, 14758928], [14761491, 14761684]]
ENST00000564078 [[14755820, 14755922], [14758725, 14759038]] [[14755820, 14755922], [14758725, 14758932]]
ENST00000565478 [[14755886, 14755922], [14758725, 14758928], [14762889, 14763088]] [[14755886, 14755922], [14758725, 14758928], [14762889, 14762944]]
ENST00000563082 [[14761176, 14761749], [14762889, 14763089]] None
NM_001330500 [[14726667, 14726875], [14738130, 14738466], [14748922, 14749067], [14755748, 14755922], [14758725, 14758928], [14761491, 14763093]] [[14738203, 14738466], [14748922, 14749067], [14755748, 14755922], [14758725, 14758928], [14761491, 14761684]]
NM_016561 [[14726667, 14726875], [14738130, 14738466], [14742244, 14742449], [14743660, 14743830], [14748922, 14749067], [14755748, 14755922], [14758725, 14758928], [14761491, 14763093]] [[14738203, 14738466], [14742244, 14742449], [14743660, 14743830], [14748922, 14749067], [14755748, 14755922], [14758725, 14758928], [14761491, 14761684]]
Promoter
Chrom Start End Description
chr16 14726763 14726819 CAGE_peak_1_at_BFAR_5end
chr16 14726827 14726838 CAGE_peak_2_at_BFAR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I014671 14671861 14673333 0.73 [{'connected_gene': 'NPIPA2', 'score': 6.7}, {'connected_gene': 'LOC100505915', 'score': 5.67}, {'connected_gene': 'BFAR', 'score': 5.3}, {'connected_gene': 'PLA2G10', 'score': 0.34}, {'connected_gene': 'GC16P014643', 'score': 0.31}]
chr16 GH16I015022 15022208 15022933 1.01 [{'connected_gene': 'RRN3', 'score': 22.85}, {'connected_gene': 'PARN', 'score': 22.78}, {'connected_gene': 'BFAR', 'score': 12.21}, {'connected_gene': 'FOPNL', 'score': 9.85}, {'connected_gene': 'GC16M015019', 'score': 0.77}, {'connected_gene': 'GC16P015030', 'score': 0.44}, {'connected_gene': 'GC16P015031', 'score': 0.44}, {'connected_gene': 'PIR43219', 'score': 0.44}, {'connected_gene': 'PDXDC1', 'score': 0.25}]
chr16 GH16I015517 15517702 15519563 1.48 [{'connected_gene': 'PARN', 'score': 38.01}, {'connected_gene': 'C16orf45', 'score': 23.85}, {'connected_gene': 'BFAR', 'score': 23.0}, {'connected_gene': 'LOC100505915', 'score': 11.4}, {'connected_gene': 'PKD1P6', 'score': 10.64}, {'connected_gene': 'RRN3', 'score': 10.61}, {'connected_gene': 'ENSG00000183458', 'score': 10.58}, {'connected_gene': 'PKD1P1', 'score': 10.57}, {'connected_gene': 'ENSG00000277920', 'score': 10.48}, {'connected_gene': 'ABCC1', 'score': 10.24}, {'connected_gene': 'ENSG00000262171', 'score': 9.68}, {'connected_gene': 'NPIPA1', 'score': 5.04}, {'connected_gene': 'LOC105371102', 'score': 0.77}]
chr16 GH16I015495 15495546 15496575 0.87 [{'connected_gene': 'PARN', 'score': 33.15}, {'connected_gene': 'NPIPA2', 'score': 28.85}, {'connected_gene': 'NPIPA3', 'score': 21.25}, {'connected_gene': 'ENSG00000183458', 'score': 19.68}, {'connected_gene': 'FOPNL', 'score': 18.18}, {'connected_gene': 'BFAR', 'score': 13.09}, {'connected_gene': 'ENSG00000277920', 'score': 12.85}, {'connected_gene': 'NPIPA1', 'score': 12.66}, {'connected_gene': 'ENSG00000261819', 'score': 12.32}, {'connected_gene': 'NPIPA5', 'score': 12.25}, {'connected_gene': 'LOC100505915', 'score': 11.45}, {'connected_gene': 'C16orf45', 'score': 11.22}, {'connected_gene': 'NPIPP1', 'score': 11.13}, {'connected_gene': 'PKD1P1', 'score': 10.88}, {'connected_gene': 'ABCC1', 'score': 10.25}, {'connected_gene': 'ENSG00000262171', 'score': 9.68}, {'connected_gene': 'ENSG00000263335', 'score': 4.48}, {'connected_gene': 'LOC105371102', 'score': 0.34}, {'connected_gene': 'ENSG00000261130', 'score': 0.15}]
chr16 GH16I014959 14959124 14959233 0.57 [{'connected_gene': 'PARN', 'score': 13.57}, {'connected_gene': 'RRN3', 'score': 13.54}, {'connected_gene': 'LOC100505915', 'score': 12.33}, {'connected_gene': 'BFAR', 'score': 10.47}, {'connected_gene': 'PKD1P6', 'score': 10.25}, {'connected_gene': 'ENSG00000273804', 'score': 0.44}, {'connected_gene': 'PDXDC1', 'score': 0.37}, {'connected_gene': 'GC16P014859', 'score': 0.14}]
chr16 GH16I014050 14050087 14051673 0.98 [{'connected_gene': 'PARN', 'score': 30.24}, {'connected_gene': 'BFAR', 'score': 23.08}, {'connected_gene': 'MKL2', 'score': 0.34}, {'connected_gene': 'LINC02186', 'score': 0.31}]
chr16 GH16I014500 14500381 14504253 1.44 [{'connected_gene': 'PARN', 'score': 16.63}, {'connected_gene': 'BFAR', 'score': 11.82}, {'connected_gene': 'MIR193B', 'score': 11.73}, {'connected_gene': 'ERCC4', 'score': 9.94}, {'connected_gene': 'RPS26P52', 'score': 9.94}, {'connected_gene': 'LOC100505915', 'score': 6.05}, {'connected_gene': 'LOC105371094', 'score': 0.37}, {'connected_gene': 'RN7SL274P', 'score': 0.15}]
chr16 GH16I015498 15498670 15499152 0.94 [{'connected_gene': 'PARN', 'score': 15.07}, {'connected_gene': 'BFAR', 'score': 13.09}, {'connected_gene': 'ABCC1', 'score': 10.25}, {'connected_gene': 'ENSG00000262171', 'score': 9.68}, {'connected_gene': 'LOC105371102', 'score': 0.34}, {'connected_gene': 'C16orf45', 'score': 0.21}, {'connected_gene': 'ENSG00000261130', 'score': 0.15}]
chr16 GH16I014628 14628690 14638211 2.52 [{'connected_gene': 'PARN', 'score': 588.53}, {'connected_gene': 'BFAR', 'score': 555.2}, {'connected_gene': 'LOC100505915', 'score': 15.63}, {'connected_gene': 'NPIPA2', 'score': 4.58}, {'connected_gene': 'RNU7-125P', 'score': 0.39}]
chr16 GH16I015588 15588626 15594018 1.88 [{'connected_gene': 'PARN', 'score': 52.03}, {'connected_gene': 'ENSG00000263335', 'score': 31.45}, {'connected_gene': 'BFAR', 'score': 30.52}, {'connected_gene': 'LOC100505915', 'score': 27.4}, {'connected_gene': 'RRN3', 'score': 24.95}, {'connected_gene': 'ABCC1', 'score': 20.29}, {'connected_gene': 'PKD1P6', 'score': 18.54}, {'connected_gene': 'ENSG00000262171', 'score': 18.05}, {'connected_gene': 'NDE1', 'score': 13.42}, {'connected_gene': 'PKD1P1', 'score': 11.15}, {'connected_gene': 'ENSG00000183458', 'score': 10.37}, {'connected_gene': 'ENSG00000207425', 'score': 10.03}, {'connected_gene': 'MARF1', 'score': 8.92}, {'connected_gene': 'C16orf45', 'score': 7.05}, {'connected_gene': 'NPIPA1', 'score': 5.76}, {'connected_gene': 'PIR47709', 'score': 0.77}, {'connected_gene': 'PIR41816', 'score': 0.31}]
chr16 GH16I015575 15575342 15577909 1.47 [{'connected_gene': 'PARN', 'score': 38.49}, {'connected_gene': 'ENSG00000263335', 'score': 27.16}, {'connected_gene': 'BFAR', 'score': 20.0}, {'connected_gene': 'LOC100505915', 'score': 15.33}, {'connected_gene': 'RRN3', 'score': 13.7}, {'connected_gene': 'PKD1P6', 'score': 12.21}, {'connected_gene': 'PKD1P1', 'score': 10.8}, {'connected_gene': 'ENSG00000183458', 'score': 10.27}, {'connected_gene': 'C16orf45', 'score': 10.11}, {'connected_gene': 'PDXDC1', 'score': 9.81}, {'connected_gene': 'NPIPA1', 'score': 5.05}, {'connected_gene': 'PIR41816', 'score': 0.39}, {'connected_gene': 'PIR47709', 'score': 0.37}]
chr16 GH16I014978 14978441 14981717 1.01 [{'connected_gene': 'PARN', 'score': 35.52}, {'connected_gene': 'LOC100505915', 'score': 21.71}, {'connected_gene': 'RRN3', 'score': 16.25}, {'connected_gene': 'PKD1P6', 'score': 12.25}, {'connected_gene': 'BFAR', 'score': 10.53}, {'connected_gene': 'ENSG00000183458', 'score': 10.45}, {'connected_gene': 'PDXDC1', 'score': 10.21}, {'connected_gene': 'NPIPA2', 'score': 8.5}, {'connected_gene': 'NPIPA1', 'score': 5.14}, {'connected_gene': 'PIR42079', 'score': 0.44}, {'connected_gene': 'GC16P014859', 'score': 0.13}]
chr16 GH16I014973 14973935 14976707 2.53 [{'connected_gene': 'PDXDC1', 'score': 554.16}, {'connected_gene': 'NPIPA2', 'score': 32.2}, {'connected_gene': 'ENSG00000183458', 'score': 30.61}, {'connected_gene': 'NPIPA3', 'score': 27.48}, {'connected_gene': 'NPIPA1', 'score': 24.29}, {'connected_gene': 'PARN', 'score': 23.4}, {'connected_gene': 'LOC100505915', 'score': 23.32}, {'connected_gene': 'NPIPA5', 'score': 22.93}, {'connected_gene': 'ENSG00000261819', 'score': 20.97}, {'connected_gene': 'BFAR', 'score': 13.11}, {'connected_gene': 'RRN3', 'score': 12.93}, {'connected_gene': 'PKD1P6', 'score': 12.68}, {'connected_gene': 'NPIPP1', 'score': 11.19}, {'connected_gene': 'C16orf45', 'score': 11.06}, {'connected_gene': 'ABCC1', 'score': 10.22}, {'connected_gene': 'ENSG00000262171', 'score': 9.65}, {'connected_gene': 'PIR42079', 'score': 0.39}, {'connected_gene': 'GC16P014859', 'score': 0.13}]
chr16 GH16I013955 13955477 13959297 1.5 [{'connected_gene': 'ERCC4', 'score': 30.93}, {'connected_gene': 'PARN', 'score': 14.05}, {'connected_gene': 'ENSG00000183458', 'score': 13.85}, {'connected_gene': 'NPIPA1', 'score': 13.28}, {'connected_gene': 'NPIPA3', 'score': 13.12}, {'connected_gene': 'BFAR', 'score': 12.19}, {'connected_gene': 'RPS26P52', 'score': 11.12}, {'connected_gene': 'NPIPA2', 'score': 10.48}, {'connected_gene': 'PLA2G10', 'score': 5.83}, {'connected_gene': 'MKL2', 'score': 3.52}, {'connected_gene': 'ENSG00000263234', 'score': 0.77}, {'connected_gene': 'LINC02185', 'score': 0.22}]
chr16 GH16I014485 14485834 14488649 1.43 [{'connected_gene': 'LOC105371094', 'score': 550.77}, {'connected_gene': 'PARN', 'score': 40.49}, {'connected_gene': 'BFAR', 'score': 21.84}, {'connected_gene': 'LOC100505915', 'score': 11.87}, {'connected_gene': 'MIR193B', 'score': 10.83}, {'connected_gene': 'ENSG00000207425', 'score': 10.81}, {'connected_gene': 'ENSG00000183458', 'score': 9.99}, {'connected_gene': 'C16orf45', 'score': 5.99}, {'connected_gene': 'NPIPA2', 'score': 5.59}, {'connected_gene': 'RN7SL274P', 'score': 0.14}]
chr16 GH16I014639 14639114 14642892 0.72 [{'connected_gene': 'LOC100505915', 'score': 11.09}, {'connected_gene': 'ENSG00000261819', 'score': 5.84}, {'connected_gene': 'RRN3', 'score': 5.17}, {'connected_gene': 'BFAR', 'score': 5.03}, {'connected_gene': 'RNU7-125P', 'score': 0.77}]
chr16 GH16I014655 14655708 14658853 1 [{'connected_gene': 'LOC100505915', 'score': 7.08}, {'connected_gene': 'GC16P014643', 'score': 0.39}, {'connected_gene': 'BFAR', 'score': 0.34}, {'connected_gene': 'PLA2G10', 'score': 0.28}]
chr16 GH16I015487 15487353 15494993 1.71 [{'connected_gene': 'LOC100505915', 'score': 15.34}, {'connected_gene': 'PARN', 'score': 14.36}, {'connected_gene': 'RRN3', 'score': 13.71}, {'connected_gene': 'C16orf45', 'score': 13.47}, {'connected_gene': 'PKD1P6', 'score': 12.21}, {'connected_gene': 'PKD1P1', 'score': 10.8}, {'connected_gene': 'BFAR', 'score': 10.51}, {'connected_gene': 'ENSG00000183458', 'score': 10.27}, {'connected_gene': 'PDXDC1', 'score': 9.81}, {'connected_gene': 'ENSG00000207425', 'score': 4.97}, {'connected_gene': 'NDE1', 'score': 3.13}, {'connected_gene': 'LOC105371102', 'score': 0.31}, {'connected_gene': 'ENSG00000261130', 'score': 0.15}]
chr16 GH16I014095 14095025 14098789 1.12 [{'connected_gene': 'LOC100505915', 'score': 91.64}, {'connected_gene': 'PARN', 'score': 82.86}, {'connected_gene': 'ENSG00000183458', 'score': 57.49}, {'connected_gene': 'RRN3', 'score': 51.93}, {'connected_gene': 'NPIPA3', 'score': 32.04}, {'connected_gene': 'NPIPA1', 'score': 31.77}, {'connected_gene': 'NPIPA2', 'score': 22.35}, {'connected_gene': 'ERCC4', 'score': 21.96}, {'connected_gene': 'BFAR', 'score': 20.49}, {'connected_gene': 'PDXDC1', 'score': 18.33}, {'connected_gene': 'ENSG00000207425', 'score': 10.79}, {'connected_gene': 'ENSG00000261819', 'score': 9.78}, {'connected_gene': 'MKL2', 'score': 0.31}, {'connected_gene': 'ENSG00000276564', 'score': 0.23}]
chr16 GH16I014956 14956688 14957436 0.67 [{'connected_gene': 'LOC100505915', 'score': 17.53}, {'connected_gene': 'PARN', 'score': 13.57}, {'connected_gene': 'RRN3', 'score': 13.54}, {'connected_gene': 'BFAR', 'score': 10.48}, {'connected_gene': 'PKD1P6', 'score': 10.25}, {'connected_gene': 'ENSG00000273804', 'score': 0.77}, {'connected_gene': 'PDXDC1', 'score': 0.37}, {'connected_gene': 'GC16P014859', 'score': 0.14}]
chr16 GH16I015571 15571581 15573318 1.31 [{'connected_gene': 'LOC100505915', 'score': 15.33}, {'connected_gene': 'PARN', 'score': 14.36}, {'connected_gene': 'RRN3', 'score': 13.7}, {'connected_gene': 'PKD1P6', 'score': 12.21}, {'connected_gene': 'C16orf45', 'score': 10.89}, {'connected_gene': 'PKD1P1', 'score': 10.8}, {'connected_gene': 'BFAR', 'score': 10.51}, {'connected_gene': 'ENSG00000183458', 'score': 10.27}, {'connected_gene': 'PDXDC1', 'score': 9.81}, {'connected_gene': 'NPIPA5', 'score': 5.31}, {'connected_gene': 'ENSG00000207425', 'score': 4.09}, {'connected_gene': 'PIR41816', 'score': 0.44}, {'connected_gene': 'PIR47709', 'score': 0.34}]
chr16 GH16I014283 14283570 14287238 1.31 [{'connected_gene': 'TRT-CGT2-1', 'score': 550.77}, {'connected_gene': 'GC16P014288', 'score': 550.77}, {'connected_gene': 'ENSG00000183458', 'score': 60.71}, {'connected_gene': 'NPIPA3', 'score': 55.63}, {'connected_gene': 'NPIPP1', 'score': 55.15}, {'connected_gene': 'NPIPA1', 'score': 54.96}, {'connected_gene': 'LOC100505915', 'score': 50.78}, {'connected_gene': 'NPIPA2', 'score': 50.45}, {'connected_gene': 'PARN', 'score': 37.9}, {'connected_gene': 'PKD1P6', 'score': 35.37}, {'connected_gene': 'BFAR', 'score': 21.23}, {'connected_gene': 'RRN3', 'score': 13.74}, {'connected_gene': 'ENSG00000261819', 'score': 12.32}, {'connected_gene': 'MIR193BHG', 'score': 5.99}, {'connected_gene': 'ENSG00000201075', 'score': 0.44}]
chr16 GH16I014668 14668984 14669133 0.2 [{'connected_gene': 'GC16P014643', 'score': 0.31}, {'connected_gene': 'PLA2G10', 'score': 0.31}, {'connected_gene': 'BFAR', 'score': 0.28}]
chr16 GH16I014650 14650244 14651801 0.31 [{'connected_gene': 'GC16P014643', 'score': 0.44}, {'connected_gene': 'BFAR', 'score': 0.37}, {'connected_gene': 'PLA2G10', 'score': 0.26}]
chr16 GH16I014337 14337388 14338339 1.35 [{'connected_gene': 'ENSG00000183458', 'score': 62.68}, {'connected_gene': 'PARN', 'score': 55.3}, {'connected_gene': 'NPIPA2', 'score': 50.94}, {'connected_gene': 'LOC100505915', 'score': 47.26}, {'connected_gene': 'NPIPA3', 'score': 46.99}, {'connected_gene': 'NPIPA1', 'score': 38.34}, {'connected_gene': 'NPIPP1', 'score': 32.83}, {'connected_gene': 'ERCC4', 'score': 28.38}, {'connected_gene': 'ENSG00000261819', 'score': 23.16}, {'connected_gene': 'PKD1P6', 'score': 22.41}, {'connected_gene': 'RRN3', 'score': 21.64}, {'connected_gene': 'BFAR', 'score': 13.12}, {'connected_gene': 'MIR193B', 'score': 12.12}, {'connected_gene': 'ENSG00000262732', 'score': 11.42}, {'connected_gene': 'NOMO1', 'score': 5.96}, {'connected_gene': 'GC16M014339', 'score': 0.77}, {'connected_gene': 'GC16P014313', 'score': 0.31}]

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