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
ENST00000553432 [[52292912, 52292948], [52294385, 52294525], [52417367, 52417483], [52433276, 52433561]] [[52294461, 52294525], [52417367, 52417483], [52433276, 52433405]]
ENST00000556522 [[52292917, 52292948], [52294385, 52294525], [52344334, 52344375], [52417367, 52417483], [52433276, 52433470]] [[52294461, 52294525], [52344334, 52344375], [52417367, 52417376]]
ENST00000557376 [[52292917, 52292948], [52294385, 52294525], [52308223, 52308290], [52417367, 52417483], [52433276, 52433495]] [[52294504, 52294525], [52308223, 52308290], [52417367, 52417483], [52433276, 52433405]]
ENST00000553560 [[52313843, 52314096], [52344334, 52344375], [52417367, 52417483], [52445991, 52446060]] [[52417396, 52417483], [52445991, 52446060]]
ENST00000553299 [[52313951, 52314096], [52340599, 52340800], [52344334, 52344375], [52406498, 52406809], [52417367, 52417483], [52418604, 52418850], [52433276, 52433758]] None
ENST00000335281 [[52327131, 52327508], [52417367, 52417483], [52433276, 52436512]] [[52417396, 52417483], [52433276, 52433405]]
ENST00000555472 [[52327359, 52327508], [52344334, 52344375], [52379726, 52379846], [52417367, 52417483], [52433276, 52433758]] [[52417396, 52417483], [52433276, 52433405]]
ENST00000556766 [[52327363, 52327508], [52344334, 52344375], [52417367, 52417483], [52433276, 52435099]] [[52417396, 52417483], [52433276, 52433405]]
ENST00000554840 [[52327451, 52327508], [52344334, 52344375], [52433428, 52433879]] None
ENST00000554736 [[52328041, 52328108], [52344334, 52344375], [52417367, 52417483], [52433276, 52433621]] [[52417396, 52417483], [52433276, 52433405]]
ENST00000556752 [[52344309, 52344375], [52417367, 52417483], [52433276, 52436513]] [[52417396, 52417483], [52433276, 52433405]]
ENST00000554832 [[52313889, 52314096], [52344334, 52344375], [52379726, 52380054]] None
ENST00000557208 [[52327358, 52327508], [52344334, 52344762]] None
ENST00000556471 [[52344351, 52344375], [52379726, 52379846], [52406498, 52407117]] None
ENST00000554875 [[52379829, 52379846], [52380827, 52380992], [52417367, 52417483], [52418604, 52418736]] [[52380934, 52380992], [52417367, 52417483], [52418604, 52418616]]
NM_001243774 [[52327021, 52327508], [52417367, 52417483], [52433276, 52436518]] [[52417396, 52417483], [52433276, 52433405]]
NM_001243773 [[52327021, 52327508], [52344338, 52344375], [52417367, 52417483], [52433276, 52436518]] [[52417396, 52417483], [52433276, 52433405]]
NM_053064 [[52327021, 52327508], [52344334, 52344375], [52417367, 52417483], [52433276, 52436518]] [[52417396, 52417483], [52433276, 52433405]]
Promoter
Chrom Start End Description
chr14 52313833 52313844 CAGE_peak_23_at_GNG2_5end
chr14 52313850 52313857 CAGE_peak_34_at_GNG2_5end
chr14 52313861 52313905 CAGE_peak_6_at_GNG2_5end
chr14 52326800 52326810 CAGE_peak_25_at_GNG2_5end
chr14 52327109 52327125 CAGE_peak_9_at_GNG2_5end
chr14 52327147 52327169 CAGE_peak_5_at_GNG2_5end
chr14 52327321 52327336 CAGE_peak_1_at_GNG2_5end
chr14 52327350 52327371 CAGE_peak_2_at_GNG2_5end
chr14 52327379 52327396 CAGE_peak_4_at_GNG2_5end
chr14 52327421 52327458 CAGE_peak_3_at_GNG2_5end
chr14 52327712 52327727 CAGE_peak_15_at_GNG2_5end
chr14 52327743 52327775 CAGE_peak_7_at_GNG2_5end
chr14 52327777 52327797 CAGE_peak_8_at_GNG2_5end
chr14 52327835 52327844 CAGE_peak_29_at_GNG2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I052311 52311129 52319794 2.38 [{'connected_gene': 'PTGER2', 'score': 572.63}, {'connected_gene': 'GNG2', 'score': 8.35}, {'connected_gene': 'TXNDC16', 'score': 4.94}, {'connected_gene': 'RTRAF', 'score': 4.67}, {'connected_gene': 'GC14P052338', 'score': 0.34}, {'connected_gene': 'GC14M052143', 'score': 0.12}]
chr14 GH14I052324 52324059 52329101 1.47 [{'connected_gene': 'PTGER2', 'score': 24.0}, {'connected_gene': 'GNG2', 'score': 7.96}, {'connected_gene': 'TXNDC16', 'score': 5.33}, {'connected_gene': 'GC14P052338', 'score': 0.39}, {'connected_gene': 'GC14M052143', 'score': 0.13}]
chr14 GH14I052308 52307909 52308359 0.59 [{'connected_gene': 'PTGER2', 'score': 12.16}, {'connected_gene': 'GNG2', 'score': 4.82}, {'connected_gene': 'LOC100131689', 'score': 0.34}, {'connected_gene': 'GC14M052143', 'score': 0.11}]
chr14 GH14I052303 52303464 52303630 0.25 [{'connected_gene': 'PTGER2', 'score': 6.27}, {'connected_gene': 'GNG2', 'score': 3.23}, {'connected_gene': 'LOC100131689', 'score': 0.37}, {'connected_gene': 'GC14M052143', 'score': 0.11}]
chr14 GH14I052320 52320875 52321273 0.45 [{'connected_gene': 'PTGER2', 'score': 12.85}, {'connected_gene': 'GNG2', 'score': 6.75}, {'connected_gene': 'GC14P052338', 'score': 0.37}, {'connected_gene': 'GC14M052143', 'score': 0.13}]
chr14 GH14I052271 52271640 52271912 0.48 [{'connected_gene': 'PTGDR', 'score': 15.67}, {'connected_gene': 'GNG2', 'score': 3.14}, {'connected_gene': 'PTGER2', 'score': 3.13}, {'connected_gene': 'LOC100131689', 'score': 0.39}, {'connected_gene': 'GC14M052143', 'score': 0.1}]
chr14 GH14I051929 51929666 51931809 0.65 [{'connected_gene': 'GNG2', 'score': 15.87}, {'connected_gene': 'PTGDR', 'score': 10.94}, {'connected_gene': 'RTRAF', 'score': 10.01}, {'connected_gene': 'LOC102723604', 'score': 6.59}, {'connected_gene': 'PTGER2', 'score': 1.21}, {'connected_gene': 'ENSG00000259007', 'score': 0.28}]
chr14 GH14I051865 51865433 51870178 1.38 [{'connected_gene': 'GNG2', 'score': 25.17}, {'connected_gene': 'RTRAF', 'score': 11.37}, {'connected_gene': 'PTGER2', 'score': 11.15}, {'connected_gene': 'PTGDR', 'score': 8.42}, {'connected_gene': 'LOC102723604', 'score': 0.23}]
chr14 GH14I051871 51871756 51874210 1.53 [{'connected_gene': 'GNG2', 'score': 26.03}, {'connected_gene': 'RTRAF', 'score': 11.17}, {'connected_gene': 'PTGER2', 'score': 8.88}, {'connected_gene': 'PTGDR', 'score': 2.58}, {'connected_gene': 'LOC102723604', 'score': 0.25}]
chr14 GH14I051870 51870753 51871197 0.62 [{'connected_gene': 'GNG2', 'score': 23.21}, {'connected_gene': 'RTRAF', 'score': 11.37}, {'connected_gene': 'PTGER2', 'score': 9.66}, {'connected_gene': 'LOC102723604', 'score': 0.25}]
chr14 GH14I051859 51859551 51865400 2.48 [{'connected_gene': 'GNG2', 'score': 592.45}, {'connected_gene': 'RTRAF', 'score': 11.37}, {'connected_gene': 'PTGER2', 'score': 5.63}, {'connected_gene': 'LOC102723604', 'score': 0.22}]
chr14 GH14I051884 51883743 51885218 1.44 [{'connected_gene': 'GNG2', 'score': 24.13}, {'connected_gene': 'RTRAF', 'score': 11.53}, {'connected_gene': 'PTGER2', 'score': 2.47}, {'connected_gene': 'LOC102723604', 'score': 0.29}]
chr14 GH14I051843 51843965 51849697 1.99 [{'connected_gene': 'GNG2', 'score': 22.61}, {'connected_gene': 'RTRAF', 'score': 12.05}, {'connected_gene': 'PTGDR', 'score': 7.91}, {'connected_gene': 'PTGER2', 'score': 5.63}, {'connected_gene': 'LOC102723604', 'score': 0.19}]
chr14 GH14I051883 51883080 51883518 0.48 [{'connected_gene': 'GNG2', 'score': 19.09}, {'connected_gene': 'RTRAF', 'score': 11.53}, {'connected_gene': 'PTGDR', 'score': 1.14}, {'connected_gene': 'LOC102723604', 'score': 0.28}]
chr14 GH14I051905 51905077 51906548 1.42 [{'connected_gene': 'GNG2', 'score': 27.73}, {'connected_gene': 'RTRAF', 'score': 11.05}, {'connected_gene': 'RNU6-301P', 'score': 9.07}, {'connected_gene': 'PTGER2', 'score': 6.76}, {'connected_gene': 'LOC102723604', 'score': 0.39}]
chr14 GH14I051782 51782539 51782706 0.36 [{'connected_gene': 'GNG2', 'score': 16.5}, {'connected_gene': 'RTRAF', 'score': 10.94}, {'connected_gene': 'RNU6-301P', 'score': 9.8}, {'connected_gene': 'RNU6-1291P', 'score': 9.62}, {'connected_gene': 'ENSG00000259157', 'score': 0.77}, {'connected_gene': 'OR7E159P', 'score': 0.39}, {'connected_gene': 'ENSG00000258535', 'score': 0.37}, {'connected_gene': 'LOC101927598', 'score': 0.37}]
chr14 GH14I051783 51783748 51784206 0.61 [{'connected_gene': 'GNG2', 'score': 16.43}, {'connected_gene': 'RTRAF', 'score': 10.94}, {'connected_gene': 'RNU6-301P', 'score': 9.8}, {'connected_gene': 'RNU6-1291P', 'score': 9.62}, {'connected_gene': 'ENSG00000259157', 'score': 0.77}, {'connected_gene': 'OR7E159P', 'score': 0.39}, {'connected_gene': 'ENSG00000258535', 'score': 0.37}, {'connected_gene': 'LOC101927598', 'score': 0.34}]
chr14 GH14I051874 51874670 51875658 0.2 [{'connected_gene': 'GNG2', 'score': 11.18}, {'connected_gene': 'RTRAF', 'score': 10.82}, {'connected_gene': 'LOC102723604', 'score': 0.26}]
chr14 GH14I051878 51878526 51880219 0.77 [{'connected_gene': 'GNG2', 'score': 10.45}, {'connected_gene': 'RTRAF', 'score': 10.0}, {'connected_gene': 'LOC102723604', 'score': 0.28}]
chr14 GH14I051857 51857374 51857498 0.46 [{'connected_gene': 'GNG2', 'score': 0.29}, {'connected_gene': 'LOC102723604', 'score': 0.21}]
chr14 GH14I051877 51877983 51878132 0.4 [{'connected_gene': 'GNG2', 'score': 10.71}, {'connected_gene': 'LOC102723604', 'score': 0.26}]
chr14 GH14I051901 51901803 51901952 0.4 [{'connected_gene': 'GNG2', 'score': 10.65}, {'connected_gene': 'LOC102723604', 'score': 0.37}]
chr14 GH14I051860 51859223 51859372 0.4 [{'connected_gene': 'GNG2', 'score': 0.29}, {'connected_gene': 'LOC102723604', 'score': 0.22}]
chr14 GH14I051855 51855130 51856012 0.63 [{'connected_gene': 'GNG2', 'score': 6.05}, {'connected_gene': 'LOC102723604', 'score': 0.21}]
chr14 GH14I052015 52015601 52015800 0.63 [{'connected_gene': 'RTRAF', 'score': 11.97}, {'connected_gene': 'PTGDR', 'score': 10.87}, {'connected_gene': 'GNG2', 'score': 9.92}, {'connected_gene': 'GC14M051998', 'score': 0.37}, {'connected_gene': 'NID2', 'score': 0.23}]
chr14 GH14I051942 51942741 51944565 0.2 [{'connected_gene': 'RTRAF', 'score': 10.72}, {'connected_gene': 'GNG2', 'score': 9.75}, {'connected_gene': 'PYGL', 'score': 4.23}, {'connected_gene': 'LOC102723604', 'score': 0.31}, {'connected_gene': 'ENSG00000259007', 'score': 0.31}]
chr14 GH14I051907 51907121 51908766 0.2 [{'connected_gene': 'RTRAF', 'score': 10.93}, {'connected_gene': 'GNG2', 'score': 10.63}, {'connected_gene': 'RNU6-301P', 'score': 9.07}, {'connected_gene': 'LOC102723604', 'score': 0.39}]
chr14 GH14I051911 51911606 51913187 0.31 [{'connected_gene': 'RTRAF', 'score': 10.94}, {'connected_gene': 'GNG2', 'score': 10.63}, {'connected_gene': 'RNU6-301P', 'score': 9.07}, {'connected_gene': 'LOC102723604', 'score': 0.44}]
chr14 GH14I051988 51988455 51990775 2.21 [{'connected_gene': 'RTRAF', 'score': 550.77}, {'connected_gene': 'GNG2', 'score': 10.23}, {'connected_gene': 'LOC105370500', 'score': 9.76}, {'connected_gene': 'GC14M051998', 'score': 0.39}]
chr14 GH14I051939 51939343 51940377 0.76 [{'connected_gene': 'RTRAF', 'score': 10.65}, {'connected_gene': 'GNG2', 'score': 9.94}, {'connected_gene': 'LOC102723604', 'score': 0.34}, {'connected_gene': 'ENSG00000259007', 'score': 0.31}]
chr14 GH14I051880 51880488 51881698 0.94 [{'connected_gene': 'RTRAF', 'score': 11.53}, {'connected_gene': 'GNG2', 'score': 10.8}, {'connected_gene': 'LOC102723604', 'score': 0.28}]
chr14 GH14I051837 51837401 51837601 0.52 [{'connected_gene': 'RTRAF', 'score': 10.59}, {'connected_gene': 'GNG2', 'score': 0.39}, {'connected_gene': 'LOC102723604', 'score': 0.18}]
chr14 GH14I051914 51914302 51916318 0.38 [{'connected_gene': 'RTRAF', 'score': 10.49}, {'connected_gene': 'GNG2', 'score': 10.05}, {'connected_gene': 'LOC102723604', 'score': 0.77}]
chr14 GH14I051838 51837805 51837957 0.51 [{'connected_gene': 'RTRAF', 'score': 10.59}, {'connected_gene': 'GNG2', 'score': 0.39}, {'connected_gene': 'LOC102723604', 'score': 0.18}]
chr14 GH14I051885 51885421 51887817 0.31 [{'connected_gene': 'RTRAF', 'score': 11.49}, {'connected_gene': 'GNG2', 'score': 10.73}, {'connected_gene': 'LOC102723604', 'score': 0.29}]
chr14 GH14I051900 51900303 51901729 0.2 [{'connected_gene': 'RTRAF', 'score': 11.56}, {'connected_gene': 'GNG2', 'score': 10.66}, {'connected_gene': 'LOC102723604', 'score': 0.37}]
chr14 GH14I051888 51888278 51891427 0.2 [{'connected_gene': 'RTRAF', 'score': 10.96}, {'connected_gene': 'GNG2', 'score': 10.73}, {'connected_gene': 'LOC102723604', 'score': 0.31}]
chr14 GH14I052018 52018067 52027468 1.17 [{'connected_gene': 'RTRAF', 'score': 11.95}, {'connected_gene': 'NID2', 'score': 10.05}, {'connected_gene': 'GNG2', 'score': 9.91}, {'connected_gene': 'GC14M051998', 'score': 0.34}]
chr14 GH14I051895 51895043 51896037 0.4 [{'connected_gene': 'RTRAF', 'score': 11.55}, {'connected_gene': 'LOC102723604', 'score': 0.34}, {'connected_gene': 'GNG2', 'score': 0.2}]
chr14 GH14I051962 51962638 51964253 0.4 [{'connected_gene': 'RTRAF', 'score': 12.33}, {'connected_gene': 'ENSG00000259007', 'score': 0.44}, {'connected_gene': 'LOC102723604', 'score': 0.26}, {'connected_gene': 'GNG2', 'score': 0.12}]
chr14 GH14I051897 51897963 51898112 0.4 [{'connected_gene': 'RTRAF', 'score': 11.55}, {'connected_gene': 'LOC102723604', 'score': 0.34}, {'connected_gene': 'GNG2', 'score': 0.19}]
chr14 GH14I051898 51898115 51899663 0.2 [{'connected_gene': 'RTRAF', 'score': 11.55}, {'connected_gene': 'LOC102723604', 'score': 0.37}, {'connected_gene': 'GNG2', 'score': 0.19}]
chr14 GH14I051649 51649614 51656246 2.48 [{'connected_gene': 'FRMD6', 'score': 556.27}, {'connected_gene': 'FRMD6-AS1', 'score': 550.77}, {'connected_gene': 'TMX1', 'score': 11.38}, {'connected_gene': 'GNG2', 'score': 10.46}, {'connected_gene': 'RNU6-301P', 'score': 10.3}, {'connected_gene': 'RNA5SP385', 'score': 0.28}]
chr14 GH14I051979 51979203 51979352 0.88 [{'connected_gene': 'LOC105370500', 'score': 11.3}, {'connected_gene': 'FRMD6', 'score': 10.74}, {'connected_gene': 'PSMC6', 'score': 9.75}, {'connected_gene': 'TMX1', 'score': 9.67}, {'connected_gene': 'LOC105370497', 'score': 0.44}, {'connected_gene': 'ENSG00000259007', 'score': 0.44}, {'connected_gene': 'GNG2', 'score': 0.1}]
chr14 GH14I051980 51979001 51979201 0.86 [{'connected_gene': 'LOC105370500', 'score': 11.3}, {'connected_gene': 'FRMD6', 'score': 10.74}, {'connected_gene': 'PSMC6', 'score': 9.75}, {'connected_gene': 'TMX1', 'score': 9.67}, {'connected_gene': 'LOC105370497', 'score': 0.44}, {'connected_gene': 'ENSG00000259007', 'score': 0.44}, {'connected_gene': 'GNG2', 'score': 0.1}]
chr14 GH14I051916 51916544 51917712 0.4 [{'connected_gene': 'LOC102723604', 'score': 559.02}, {'connected_gene': 'GNG2', 'score': 10.04}, {'connected_gene': 'RTRAF', 'score': 10.03}]
chr14 GH14I051922 51922117 51923425 0.6 [{'connected_gene': 'LOC102723604', 'score': 0.77}, {'connected_gene': 'ENSG00000259007', 'score': 0.25}, {'connected_gene': 'GNG2', 'score': 0.15}]
chr14 GH14I051789 51789300 51789375 0.22 [{'connected_gene': 'ENSG00000259157', 'score': 550.77}, {'connected_gene': 'GNG2', 'score': 14.03}, {'connected_gene': 'RTRAF', 'score': 10.49}, {'connected_gene': 'RNU6-301P', 'score': 9.96}, {'connected_gene': 'RNU6-1291P', 'score': 9.42}, {'connected_gene': 'ENSG00000258535', 'score': 0.34}, {'connected_gene': 'LOC101927598', 'score': 0.31}]
chr14 GH14I051635 51635683 51639479 1.06 [{'connected_gene': 'ENSG00000277050', 'score': 550.77}, {'connected_gene': 'GNG2', 'score': 9.84}, {'connected_gene': 'RNU6-301P', 'score': 9.71}, {'connected_gene': 'FRMD6-AS2', 'score': 0.28}, {'connected_gene': 'FRMD6', 'score': 0.11}]
chr14 GH14I051827 51827583 51828875 0.89 [{'connected_gene': 'ENSG00000258535', 'score': 4.9}, {'connected_gene': 'GNG2', 'score': 0.77}, {'connected_gene': 'LOC102723604', 'score': 0.16}]

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