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
ENST00000560802 [[52244302, 52244480], [52296461, 52296599], [52338026, 52338262]] None
ENST00000558063 [[52296376, 52296599], [52334950, 52335030], [52338026, 52338306]] None
ENST00000560254 [[52296404, 52296599], [52338026, 52338405]] None
ENST00000261845 [[52311397, 52311573], [52338026, 52339212], [52342189, 52342334], [52350829, 52350994], [52353495, 52353697], [52356098, 52358462]] [[52338657, 52339212], [52342189, 52342334], [52350829, 52350994], [52353495, 52353697], [52356098, 52357197]]
ENST00000558100 [[52311434, 52311573], [52334950, 52335030], [52338026, 52338321]] None
ENST00000558841 [[52312118, 52312229], [52338026, 52338571]] None
ENST00000558891 [[52313660, 52313761], [52338026, 52338508]] None
ENST00000560774 [[52316777, 52316892], [52319835, 52320070], [52338026, 52338250]] None
NM_002748 [[52311410, 52311573], [52338026, 52339212], [52342189, 52342334], [52350829, 52350994], [52353495, 52353697], [52356098, 52358462]] [[52338657, 52339212], [52342189, 52342334], [52350829, 52350994], [52353495, 52353697], [52356098, 52357197]]
Promoter
Chrom Start End Description
chr15 52296381 52296407 CAGE_peak_11_at_MAPK6_5end
chr15 52311403 52311461 CAGE_peak_1_at_MAPK6_5end
chr15 52311464 52311484 CAGE_peak_4_at_MAPK6_5end
chr15 52311781 52311797 CAGE_peak_13_at_MAPK6_5end
chr15 52311886 52311942 CAGE_peak_5_at_MAPK6_5end
chr15 52312113 52312157 CAGE_peak_2_at_MAPK6_5end
chr15 52312159 52312192 CAGE_peak_3_at_MAPK6_5end
chr15 52312205 52312216 CAGE_peak_10_at_MAPK6_5end
chr15 52313573 52313585 CAGE_peak_6_at_MAPK6_5end
chr15 52313600 52313611 CAGE_peak_12_at_MAPK6_5end
chr15 52313632 52313645 CAGE_peak_8_at_MAPK6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I052252 52252150 52253962 1.25 [{'connected_gene': 'MAPK6', 'score': 8.93}, {'connected_gene': 'TMOD3', 'score': 6.66}, {'connected_gene': 'GC15M057316', 'score': 0.34}, {'connected_gene': 'GC15M056837', 'score': 0.34}, {'connected_gene': 'LOC105370820', 'score': 0.31}, {'connected_gene': 'MYO5C', 'score': 0.26}]
chr15 GH15I052012 52012624 52014576 1.46 [{'connected_gene': 'MAPK6', 'score': 4.31}, {'connected_gene': 'DMXL2', 'score': 3.22}, {'connected_gene': 'ENSG00000274528', 'score': 0.77}, {'connected_gene': 'ENSG00000259438', 'score': 0.44}, {'connected_gene': 'GC15P052002', 'score': 0.39}]
chr15 GH15I052039 52039784 52040973 0.92 [{'connected_gene': 'MAPK6', 'score': 12.29}, {'connected_gene': 'DMXL2', 'score': 6.53}, {'connected_gene': 'ENSG00000259178', 'score': 4.8}, {'connected_gene': 'ENSG00000259398', 'score': 0.44}, {'connected_gene': 'GC15P052002', 'score': 0.28}]
chr15 GH15I051994 51994259 51996300 0.83 [{'connected_gene': 'MAPK6', 'score': 12.79}, {'connected_gene': 'LEO1', 'score': 11.86}, {'connected_gene': 'GNB5', 'score': 9.94}, {'connected_gene': 'ENSG00000259178', 'score': 4.87}, {'connected_gene': 'GC15P052002', 'score': 0.44}]
chr15 GH15I051993 51993124 51993273 0.71 [{'connected_gene': 'MAPK6', 'score': 12.79}, {'connected_gene': 'LEO1', 'score': 11.86}, {'connected_gene': 'GC15P052002', 'score': 0.44}]
chr15 GH15I052098 52098424 52098573 0.72 [{'connected_gene': 'MAPK6', 'score': 11.85}, {'connected_gene': 'GNB5', 'score': 10.43}, {'connected_gene': 'GC15P052096', 'score': 0.77}, {'connected_gene': 'ENSG00000259712', 'score': 0.77}, {'connected_gene': 'GC15P052002', 'score': 0.15}]
chr15 GH15I052041 52041966 52042832 0.64 [{'connected_gene': 'MAPK6', 'score': 12.55}, {'connected_gene': 'GNB5', 'score': 10.88}, {'connected_gene': 'ENSG00000259398', 'score': 0.44}, {'connected_gene': 'ENSG00000259178', 'score': 0.28}, {'connected_gene': 'GC15P052002', 'score': 0.28}]
chr15 GH15I052045 52045306 52046811 0.63 [{'connected_gene': 'MAPK6', 'score': 12.55}, {'connected_gene': 'GNB5', 'score': 10.88}, {'connected_gene': 'ENSG00000259398', 'score': 0.39}, {'connected_gene': 'ENSG00000259178', 'score': 0.28}, {'connected_gene': 'GC15P052002', 'score': 0.26}]
chr15 GH15I052018 52018089 52023646 2.32 [{'connected_gene': 'MAPK6', 'score': 555.88}, {'connected_gene': 'ENSG00000259438', 'score': 550.77}, {'connected_gene': 'ENSG00000259935', 'score': 22.89}, {'connected_gene': 'ENSG00000259712', 'score': 20.81}, {'connected_gene': 'ENSG00000260618', 'score': 16.1}, {'connected_gene': 'BCL2L10', 'score': 12.47}, {'connected_gene': 'LYSMD2', 'score': 12.42}, {'connected_gene': 'FAM214A', 'score': 11.91}, {'connected_gene': 'DMXL2', 'score': 4.84}, {'connected_gene': 'ENSG00000259398', 'score': 0.39}, {'connected_gene': 'GC15P052002', 'score': 0.37}]
chr15 GH15I052076 52076137 52080855 1.62 [{'connected_gene': 'MAPK6', 'score': 13.42}, {'connected_gene': 'BCL2L10', 'score': 12.78}, {'connected_gene': 'LYSMD2', 'score': 12.77}, {'connected_gene': 'GNB5', 'score': 10.66}, {'connected_gene': 'ENSG00000259178', 'score': 7.89}, {'connected_gene': 'DMXL2', 'score': 3.95}, {'connected_gene': 'ENSG00000259712', 'score': 0.34}, {'connected_gene': 'ENSG00000259398', 'score': 0.26}, {'connected_gene': 'GC15P052002', 'score': 0.18}]
chr15 GH15I051634 51634609 51634948 0.9 [{'connected_gene': 'TRPM7', 'score': 14.98}, {'connected_gene': 'ENSG00000260618', 'score': 12.57}, {'connected_gene': 'DCAF13P3', 'score': 11.67}, {'connected_gene': 'SCG3', 'score': 11.55}, {'connected_gene': 'ENSG00000259712', 'score': 11.17}, {'connected_gene': 'AP4E1', 'score': 10.65}, {'connected_gene': 'MYO5C', 'score': 10.0}, {'connected_gene': 'DMXL2', 'score': 8.79}, {'connected_gene': 'MAPK6', 'score': 3.35}, {'connected_gene': 'LOC105370816', 'score': 0.34}]
chr15 GH15I051706 51706115 51706593 0.63 [{'connected_gene': 'SCG3', 'score': 12.05}, {'connected_gene': 'LYSMD2', 'score': 11.37}, {'connected_gene': 'TMOD2', 'score': 11.37}, {'connected_gene': 'MAPK6', 'score': 4.96}, {'connected_gene': 'ENSG00000259296', 'score': 0.44}, {'connected_gene': 'ENSG00000259241', 'score': 0.39}]
chr15 GH15I051980 51980888 51983269 1.4 [{'connected_gene': 'LYSMD2', 'score': 19.04}, {'connected_gene': 'MAPK6', 'score': 12.65}, {'connected_gene': 'TMOD3', 'score': 11.39}, {'connected_gene': 'GNB5', 'score': 10.26}, {'connected_gene': 'ENSG00000259178', 'score': 6.82}, {'connected_gene': 'LEO1', 'score': 0.39}, {'connected_gene': 'GC15P052002', 'score': 0.34}]
chr15 GH15I051841 51841201 51848074 1.59 [{'connected_gene': 'LYSMD2', 'score': 38.07}, {'connected_gene': 'TMOD2', 'score': 16.82}, {'connected_gene': 'TMOD3', 'score': 12.98}, {'connected_gene': 'DMXL2', 'score': 9.96}, {'connected_gene': 'MAPK6', 'score': 9.27}, {'connected_gene': 'ENSG00000259178', 'score': 6.45}, {'connected_gene': 'MYO5C', 'score': 5.75}, {'connected_gene': 'ENSG00000277677', 'score': 0.39}, {'connected_gene': 'ENSG00000274954', 'score': 0.39}]
chr15 GH15I051672 51672268 51672493 0.89 [{'connected_gene': 'LYSMD2', 'score': 10.97}, {'connected_gene': 'TMOD2', 'score': 10.97}, {'connected_gene': 'DMXL2', 'score': 7.54}, {'connected_gene': 'MAPK6', 'score': 4.68}, {'connected_gene': 'SCG3', 'score': 0.44}, {'connected_gene': 'LOC105370816', 'score': 0.37}]
chr15 GH15I051728 51728916 51738836 2.72 [{'connected_gene': 'LYSMD2', 'score': 587.47}, {'connected_gene': 'DMXL2', 'score': 20.12}, {'connected_gene': 'SCG3', 'score': 11.21}, {'connected_gene': 'TMOD3', 'score': 8.19}, {'connected_gene': 'MAPK6', 'score': 7.03}, {'connected_gene': 'TMOD2', 'score': 6.45}, {'connected_gene': 'ENSG00000259296', 'score': 0.37}]
chr15 GH15I051935 51935592 51936428 0.88 [{'connected_gene': 'LYSMD2', 'score': 20.86}, {'connected_gene': 'LEO1', 'score': 12.26}, {'connected_gene': 'TMOD3', 'score': 10.39}, {'connected_gene': 'GNB5', 'score': 9.65}, {'connected_gene': 'DMXL2', 'score': 4.31}, {'connected_gene': 'GC15P051928', 'score': 0.44}, {'connected_gene': 'LOC100422556', 'score': 0.44}, {'connected_gene': 'MAPK6', 'score': 0.37}]
chr15 GH15I051580 51580550 51580730 0.82 [{'connected_gene': 'DMXL2', 'score': 14.4}, {'connected_gene': 'MAPK6', 'score': 11.33}, {'connected_gene': 'TMOD3', 'score': 4.99}, {'connected_gene': 'LYSMD2', 'score': 1.31}, {'connected_gene': 'GC15M057426', 'score': 0.37}]
chr15 GH15I051558 51558364 51558727 0.59 [{'connected_gene': 'DMXL2', 'score': 20.35}, {'connected_gene': 'MAPK6', 'score': 12.49}, {'connected_gene': 'SCG3', 'score': 5.71}, {'connected_gene': 'TMOD3', 'score': 1.54}, {'connected_gene': 'GC15M057426', 'score': 0.77}, {'connected_gene': 'ENSG00000259668', 'score': 0.15}]
chr15 GH15I051619 51619158 51620078 1.13 [{'connected_gene': 'DMXL2', 'score': 36.78}, {'connected_gene': 'MAPK6', 'score': 12.59}, {'connected_gene': 'LYSMD2', 'score': 1.71}, {'connected_gene': 'TMOD3', 'score': 1.36}, {'connected_gene': 'GC15M057426', 'score': 0.22}]
chr15 GH15I051585 51585601 51586800 1.07 [{'connected_gene': 'DMXL2', 'score': 29.86}, {'connected_gene': 'MAPK6', 'score': 11.24}, {'connected_gene': 'LYSMD2', 'score': 2.06}, {'connected_gene': 'TMOD3', 'score': 1.31}, {'connected_gene': 'GC15M057426', 'score': 0.34}]
chr15 GH15I051589 51589004 51589281 0.49 [{'connected_gene': 'DMXL2', 'score': 14.32}, {'connected_gene': 'MAPK6', 'score': 10.56}, {'connected_gene': 'GC15M057426', 'score': 0.31}]
chr15 GH15I051620 51620238 51624665 2.57 [{'connected_gene': 'DMXL2', 'score': 601.11}, {'connected_gene': 'SCG3', 'score': 22.54}, {'connected_gene': 'LYSMD2', 'score': 12.4}, {'connected_gene': 'TRPM7', 'score': 10.88}, {'connected_gene': 'ENSG00000260618', 'score': 10.87}, {'connected_gene': 'MAPK6', 'score': 10.19}, {'connected_gene': 'AP4E1', 'score': 10.15}, {'connected_gene': 'TMOD2', 'score': 10.09}, {'connected_gene': 'TMOD3', 'score': 4.85}, {'connected_gene': 'ENSG00000259678', 'score': 4.58}, {'connected_gene': 'LOC105370816', 'score': 0.29}, {'connected_gene': 'GC15M057426', 'score': 0.22}]
chr15 GH15I051707 51707024 51709381 0.94 [{'connected_gene': 'DMXL2', 'score': 20.3}, {'connected_gene': 'SCG3', 'score': 18.94}, {'connected_gene': 'LYSMD2', 'score': 10.65}, {'connected_gene': 'TMOD2', 'score': 10.65}, {'connected_gene': 'MAPK6', 'score': 6.55}, {'connected_gene': 'TMOD3', 'score': 4.89}, {'connected_gene': 'ENSG00000259296', 'score': 0.44}, {'connected_gene': 'ENSG00000259241', 'score': 0.39}]
chr15 GH15I051969 51969824 51972812 2.07 [{'connected_gene': 'LEO1', 'score': 550.77}, {'connected_gene': 'ENSG00000259935', 'score': 21.62}, {'connected_gene': 'LYSMD2', 'score': 20.31}, {'connected_gene': 'ENSG00000260618', 'score': 10.29}, {'connected_gene': 'ENSG00000259712', 'score': 9.77}, {'connected_gene': 'MAPK6', 'score': 0.37}]
chr15 GH15I051972 51972825 51973577 0.52 [{'connected_gene': 'LEO1', 'score': 550.77}, {'connected_gene': 'LYSMD2', 'score': 18.52}, {'connected_gene': 'MAPK6', 'score': 12.68}, {'connected_gene': 'GC15P052002', 'score': 0.31}]
chr15 GH15I051943 51943773 51943809 0.39 [{'connected_gene': 'LEO1', 'score': 11.52}, {'connected_gene': 'GNB5', 'score': 10.5}, {'connected_gene': 'MAPK6', 'score': 1.51}, {'connected_gene': 'DMXL2', 'score': 1.37}, {'connected_gene': 'LOC100422556', 'score': 0.39}, {'connected_gene': 'TMOD3', 'score': 0.14}]
chr15 GH15I052480 52480720 52484827 1.36 [{'connected_gene': 'ARPP19', 'score': 19.33}, {'connected_gene': 'MYO5A', 'score': 6.92}, {'connected_gene': 'ENSG00000259709', 'score': 6.87}, {'connected_gene': 'MAPK6', 'score': 1.47}, {'connected_gene': 'EEF1B2P1', 'score': 0.34}, {'connected_gene': 'GC15M057440', 'score': 0.23}]
chr15 GH15I052143 52143424 52145192 0.71 [{'connected_gene': 'GNB5', 'score': 19.43}, {'connected_gene': 'MAPK6', 'score': 10.71}, {'connected_gene': 'MIR1266', 'score': 9.7}, {'connected_gene': 'CERNA1', 'score': 8.61}, {'connected_gene': 'SCG3', 'score': 5.32}, {'connected_gene': 'GC15P052163', 'score': 0.37}, {'connected_gene': 'ENSG00000259709', 'score': 0.37}, {'connected_gene': 'GC15P052002', 'score': 0.11}]
chr15 GH15I052164 52164744 52164893 0.43 [{'connected_gene': 'GNB5', 'score': 12.2}, {'connected_gene': 'LEO1', 'score': 11.11}, {'connected_gene': 'MAPK6', 'score': 10.37}, {'connected_gene': 'CERNA1', 'score': 4.85}, {'connected_gene': 'ENSG00000206995', 'score': 0.77}]
chr15 GH15I052005 52005578 52009856 1.61 [{'connected_gene': 'GNB5', 'score': 14.94}, {'connected_gene': 'LEO1', 'score': 11.34}, {'connected_gene': 'MIR4713HG', 'score': 3.97}, {'connected_gene': 'GC15P052002', 'score': 0.77}, {'connected_gene': 'ENSG00000274528', 'score': 0.39}, {'connected_gene': 'MAPK6', 'score': 0.22}]
chr15 GH15I052136 52136877 52138101 0.91 [{'connected_gene': 'GNB5', 'score': 15.79}, {'connected_gene': 'BCL2L10', 'score': 12.55}, {'connected_gene': 'MAPK6', 'score': 11.57}, {'connected_gene': 'CERNA1', 'score': 4.45}, {'connected_gene': 'ENSG00000259709', 'score': 0.39}, {'connected_gene': 'GC15P052163', 'score': 0.31}, {'connected_gene': 'GC15P052002', 'score': 0.12}]
chr15 GH15I052066 52066938 52070331 1.01 [{'connected_gene': 'BCL2L10', 'score': 12.08}, {'connected_gene': 'MAPK6', 'score': 11.81}, {'connected_gene': 'LEO1', 'score': 11.18}, {'connected_gene': 'GNB5', 'score': 10.66}, {'connected_gene': 'LYSMD2', 'score': 6.65}, {'connected_gene': 'ENSG00000259178', 'score': 5.13}, {'connected_gene': 'ENSG00000259398', 'score': 0.29}, {'connected_gene': 'ENSG00000259712', 'score': 0.29}, {'connected_gene': 'GC15P052002', 'score': 0.2}]
chr15 GH15I052071 52071133 52072523 1.04 [{'connected_gene': 'BCL2L10', 'score': 12.74}, {'connected_gene': 'MAPK6', 'score': 11.81}, {'connected_gene': 'GNB5', 'score': 10.65}, {'connected_gene': 'CERNA1', 'score': 4.6}, {'connected_gene': 'ENSG00000259178', 'score': 0.39}, {'connected_gene': 'ENSG00000259712', 'score': 0.31}, {'connected_gene': 'ENSG00000259398', 'score': 0.28}, {'connected_gene': 'GC15P052002', 'score': 0.2}]
chr15 GH15I052133 52133351 52136209 1.13 [{'connected_gene': 'BCL2L10', 'score': 13.2}, {'connected_gene': 'GNB5', 'score': 11.14}, {'connected_gene': 'MAPK6', 'score': 10.75}, {'connected_gene': 'CERNA1', 'score': 8.12}, {'connected_gene': 'ENSG00000259709', 'score': 0.39}, {'connected_gene': 'GC15P052163', 'score': 0.31}, {'connected_gene': 'GC15P052002', 'score': 0.12}]
chr15 GH15I052092 52092558 52096798 1.48 [{'connected_gene': 'GC15P052096', 'score': 550.77}, {'connected_gene': 'RPS13P8', 'score': 550.77}, {'connected_gene': 'MAPK6', 'score': 16.46}, {'connected_gene': 'LEO1', 'score': 10.57}, {'connected_gene': 'GNB5', 'score': 10.44}, {'connected_gene': 'ENSG00000259178', 'score': 10.32}, {'connected_gene': 'LYSMD2', 'score': 7.4}, {'connected_gene': 'ENSG00000259709', 'score': 7.16}, {'connected_gene': 'MYO5C', 'score': 5.28}, {'connected_gene': 'DMXL2', 'score': 4.73}, {'connected_gene': 'ENSG00000259241', 'score': 3.97}, {'connected_gene': 'ENSG00000259712', 'score': 0.44}, {'connected_gene': 'GC15P052002', 'score': 0.16}]
chr15 GH15I052052 52052103 52053846 0.77 [{'connected_gene': 'ENSG00000260618', 'score': 16.1}, {'connected_gene': 'FAM214A', 'score': 11.91}, {'connected_gene': 'ENSG00000259935', 'score': 11.25}, {'connected_gene': 'ENSG00000259712', 'score': 10.81}, {'connected_gene': 'LYSMD2', 'score': 7.2}, {'connected_gene': 'ENSG00000259398', 'score': 0.37}, {'connected_gene': 'ENSG00000259178', 'score': 0.31}, {'connected_gene': 'GC15P052002', 'score': 0.23}, {'connected_gene': 'MAPK6', 'score': 0.15}]
chr15 GH15I052010 52010544 52012404 1.23 [{'connected_gene': 'ENSG00000259935', 'score': 13.43}, {'connected_gene': 'ENSG00000260618', 'score': 12.58}, {'connected_gene': 'FAM214A', 'score': 11.76}, {'connected_gene': 'ENSG00000259712', 'score': 11.3}, {'connected_gene': 'LEO1', 'score': 10.96}, {'connected_gene': 'GNB5', 'score': 10.17}, {'connected_gene': 'MYO5C', 'score': 10.03}, {'connected_gene': 'ENSG00000259438', 'score': 0.44}, {'connected_gene': 'GC15P052002', 'score': 0.44}, {'connected_gene': 'ENSG00000274528', 'score': 0.44}, {'connected_gene': 'MAPK6', 'score': 0.22}]
chr15 GH15I052082 52082764 52082913 0.66 [{'connected_gene': 'ENSG00000259178', 'score': 550.77}, {'connected_gene': 'MAPK6', 'score': 11.48}, {'connected_gene': 'RPS13P8', 'score': 0.39}, {'connected_gene': 'ENSG00000259712', 'score': 0.37}, {'connected_gene': 'GC15P052002', 'score': 0.18}]
chr15 GH15I052099 52099349 52104870 1.67 [{'connected_gene': 'ENSG00000259712', 'score': 550.77}, {'connected_gene': 'MAPK6', 'score': 26.31}, {'connected_gene': 'GNB5', 'score': 17.48}, {'connected_gene': 'DMXL2', 'score': 15.67}, {'connected_gene': 'TMOD3', 'score': 1.17}, {'connected_gene': 'BCL2L10', 'score': 0.39}, {'connected_gene': 'GC15P052002', 'score': 0.15}]
chr15 GH15I052050 52050491 52050653 0.46 [{'connected_gene': 'ENSG00000259398', 'score': 0.37}, {'connected_gene': 'ENSG00000259178', 'score': 0.29}, {'connected_gene': 'GC15P052002', 'score': 0.25}, {'connected_gene': 'MAPK6', 'score': 0.15}]
chr15 GH15I052031 52031111 52032293 0.94 [{'connected_gene': 'ENSG00000259709', 'score': 6.65}, {'connected_gene': 'ENSG00000259398', 'score': 0.77}, {'connected_gene': 'ENSG00000259438', 'score': 0.39}, {'connected_gene': 'GC15P052002', 'score': 0.31}, {'connected_gene': 'MAPK6', 'score': 0.18}]
chr15 GH15I052054 52054524 52054673 0.6 [{'connected_gene': 'ENSG00000259398', 'score': 0.34}, {'connected_gene': 'ENSG00000259178', 'score': 0.31}, {'connected_gene': 'GC15P052002', 'score': 0.23}, {'connected_gene': 'MAPK6', 'score': 0.15}]
chr15 GH15I052163 52163684 52163833 0.46 [{'connected_gene': 'GC15P052163', 'score': 550.77}, {'connected_gene': 'ENSG00000206995', 'score': 550.77}, {'connected_gene': 'GNB5', 'score': 12.2}, {'connected_gene': 'LEO1', 'score': 11.11}, {'connected_gene': 'MAPK6', 'score': 10.37}, {'connected_gene': 'CERNA1', 'score': 0.37}]
chr15 GH15I052161 52161644 52163469 0.38 [{'connected_gene': 'GC15P052163', 'score': 550.77}, {'connected_gene': 'ENSG00000206995', 'score': 550.77}, {'connected_gene': 'GNB5', 'score': 18.78}, {'connected_gene': 'CERNA1', 'score': 11.73}, {'connected_gene': 'LEO1', 'score': 11.11}, {'connected_gene': 'MAPK6', 'score': 10.37}, {'connected_gene': 'ENSG00000259709', 'score': 0.28}]

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