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
ENST00000379535 [[79102828, 79103383], [79132893, 79133017], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79190072]] [[79132902, 79133017], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79189409]]
ENST00000559697 [[79140008, 79140423], [79170554, 79170601], [79172853, 79172921], [79178482, 79178503]] None
ENST00000426013 [[79165117, 79165399], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79190075]] [[79165359, 79165399], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79189409]]
ENST00000331268 [[79165155, 79165399], [79170554, 79170601], [79172853, 79172921], [79177308, 79177425], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79190475]] [[79165359, 79165399], [79170554, 79170601], [79172853, 79172921], [79177308, 79177425], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79189409]]
ENST00000557961 [[79165157, 79165399], [79170554, 79170601], [79172853, 79172921], [79178482, 79178716]] None
ENST00000559930 [[79165228, 79165460], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184601]] [[79179632, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184601]]
ENST00000558746 [[79165295, 79165399], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187250]] [[79165359, 79165399], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187250]]
ENST00000558893 [[79165314, 79165399], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79183330, 79183356], [79183825, 79183914], [79184553, 79185360]] None
ENST00000558830 [[79165316, 79165399], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185960]] [[79179632, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185960]]
ENST00000558522 [[79165325, 79165399], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79183330, 79184047]] None
ENST00000559619 [[79165328, 79165399], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179785]] None
ENST00000559345 [[79165346, 79165560], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79189731]] [[79179632, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79189409]]
ENST00000561171 [[79165366, 79165399], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79187161, 79187246], [79189324, 79189856]] None
ENST00000558502 [[79165371, 79165399], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79189419]] [[79179632, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79189409]]
ENST00000559258 [[79165384, 79165399], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79183330, 79183914], [79184553, 79184655], [79185880, 79185943]] None
ENST00000559690 [[79166064, 79166181], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185943]] [[79179632, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185943]]
ENST00000559158 [[79166162, 79166262], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186503]] [[79179632, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186503]]
ENST00000560422 [[79168833, 79168928], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186476]] [[79168858, 79168928], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186476]]
ENST00000558539 [[79170106, 79170302], [79170554, 79170601], [79172853, 79172921], [79178482, 79178737], [79179610, 79179639]] None
ENST00000559244 [[79170119, 79170302], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183915]] [[79179632, 79179691], [79183330, 79183356], [79183825, 79183915]]
ENST00000559751 [[79170581, 79170601], [79172853, 79172921], [79177311, 79177425], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185932]] [[79170581, 79170601], [79172853, 79172921], [79177311, 79177425], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185932]]
ENST00000558923 [[79182983, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185941]] None
ENST00000560710 [[79183893, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79187095]] None
NM_001265603 [[79165122, 79165399], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79190081]] [[79179632, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79189409]]
NM_006791 [[79165122, 79165399], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79190081]] [[79165359, 79165399], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79189409]]
NM_206839 [[79165122, 79165399], [79170554, 79170601], [79172853, 79172921], [79177308, 79177425], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79190081]] [[79165359, 79165399], [79170554, 79170601], [79172853, 79172921], [79177308, 79177425], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79189409]]
NM_001265605 [[79165330, 79165460], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79190081]] [[79179632, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79189409]]
NM_001265604 [[79165330, 79165560], [79170554, 79170601], [79172853, 79172921], [79178482, 79178569], [79179610, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79190081]] [[79179632, 79179691], [79183330, 79183356], [79183825, 79183914], [79184553, 79184655], [79185880, 79185969], [79186399, 79186572], [79187161, 79187246], [79189324, 79189409]]
Promoter
Chrom Start End Description
chr15 79102994 79103012 CAGE_peak_17_at_MORF4L1_5end
chr15 79140003 79140009 CAGE_peak_6_at_MORF4L1_5end
chr15 79165112 79165123 CAGE_peak_9_at_MORF4L1_5end
chr15 79165139 79165144 CAGE_peak_8_at_MORF4L1_5end
chr15 79165151 79165218 CAGE_peak_1_at_MORF4L1_5end
chr15 79165222 79165239 CAGE_peak_2_at_MORF4L1_5end
chr15 79165318 79165363 CAGE_peak_3_at_MORF4L1_5end
chr15 79165377 79165392 CAGE_peak_4_at_MORF4L1_5end
chr15 79166131 79166163 CAGE_peak_5_at_MORF4L1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I078759 78759435 78762399 1.09 [{'connected_gene': 'LOC646934', 'score': 14.61}, {'connected_gene': 'ADAMTS7P3', 'score': 14.4}, {'connected_gene': 'CHRNA5', 'score': 12.85}, {'connected_gene': 'CTSH', 'score': 5.52}, {'connected_gene': 'CHRNA3', 'score': 5.4}, {'connected_gene': 'WDR61', 'score': 4.88}, {'connected_gene': 'LOC105370914', 'score': 0.77}, {'connected_gene': 'MORF4L1', 'score': 0.25}, {'connected_gene': 'ADAMTS7', 'score': 0.23}]
chr15 GH15I078830 78830283 78832136 0.43 [{'connected_gene': 'LOC390614', 'score': 550.77}, {'connected_gene': 'ADAMTS7', 'score': 9.09}, {'connected_gene': 'LOC646934', 'score': 7.39}, {'connected_gene': 'MORF4L1', 'score': 0.34}, {'connected_gene': 'TRK-CTT1-2', 'score': 0.31}]
chr15 GH15I078203 78203069 78207887 0.85 [{'connected_gene': 'ACSBG1', 'score': 12.87}, {'connected_gene': 'CIB2', 'score': 5.39}, {'connected_gene': 'MORF4L1', 'score': 4.97}, {'connected_gene': 'LOC645752', 'score': 4.82}, {'connected_gene': 'PIR56006', 'score': 0.77}, {'connected_gene': 'GC15P078155', 'score': 0.25}, {'connected_gene': 'GC15M078021', 'score': 0.04}]
chr15 GH15I078564 78564707 78566946 1.93 [{'connected_gene': 'CHRNA5', 'score': 598.59}, {'connected_gene': 'PSMA4', 'score': 13.84}, {'connected_gene': 'IREB2', 'score': 13.14}, {'connected_gene': 'TBC1D2B', 'score': 10.96}, {'connected_gene': 'HYKK', 'score': 10.75}, {'connected_gene': 'MORF4L1', 'score': 9.42}, {'connected_gene': 'ADAMTS7', 'score': 9.41}, {'connected_gene': 'CRABP1', 'score': 9.36}, {'connected_gene': 'RASGRF1', 'score': 4.7}, {'connected_gene': 'ENSG00000261762', 'score': 0.31}, {'connected_gene': 'GC15M078021', 'score': 0.12}]
chr15 GH15I078720 78720001 78720400 0.86 [{'connected_gene': 'CHRNA5', 'score': 15.11}, {'connected_gene': 'ADAMTS7', 'score': 11.07}, {'connected_gene': 'MORF4L1', 'score': 11.07}, {'connected_gene': 'ADAMTS7P3', 'score': 8.14}, {'connected_gene': 'LOC105370913', 'score': 0.44}, {'connected_gene': 'CHRNB4', 'score': 0.44}, {'connected_gene': 'GC15M078021', 'score': 0.34}, {'connected_gene': 'LOC646934', 'score': 0.22}]
chr15 GH15I078803 78803939 78805139 0.63 [{'connected_gene': 'CHRNA5', 'score': 8.09}, {'connected_gene': 'ADAMTS7', 'score': 0.44}, {'connected_gene': 'MORF4L1', 'score': 0.44}, {'connected_gene': 'LOC105370914', 'score': 0.25}]
chr15 GH15I078824 78824549 78826724 1.26 [{'connected_gene': 'ADAMTS7', 'score': 9.04}, {'connected_gene': 'LOC646934', 'score': 8.95}, {'connected_gene': 'LOC390614', 'score': 0.44}, {'connected_gene': 'MORF4L1', 'score': 0.37}]
chr15 GH15I078840 78840441 78841608 0.82 [{'connected_gene': 'ADAMTS7', 'score': 9.9}, {'connected_gene': 'LOC390614', 'score': 0.44}, {'connected_gene': 'TRK-CTT1-2', 'score': 0.37}, {'connected_gene': 'MORF4L1', 'score': 0.29}]
chr15 GH15I078818 78818959 78818968 0.2 [{'connected_gene': 'ADAMTS7', 'score': 0.44}, {'connected_gene': 'MORF4L1', 'score': 0.44}, {'connected_gene': 'LOC390614', 'score': 0.39}]
chr15 GH15I078921 78921937 78923450 0.58 [{'connected_gene': 'ADAMTS7', 'score': 8.2}, {'connected_gene': 'MORF4L1', 'score': 7.75}, {'connected_gene': 'ENSG00000279235', 'score': 0.37}, {'connected_gene': 'CTSH', 'score': 0.31}]
chr15 GH15I078797 78797566 78798932 0.46 [{'connected_gene': 'ADAMTS7', 'score': 10.43}, {'connected_gene': 'MORF4L1', 'score': 0.39}, {'connected_gene': 'LOC105370914', 'score': 0.26}]
chr15 GH15I078779 78779800 78780201 0.2 [{'connected_gene': 'ADAMTS7', 'score': 12.15}, {'connected_gene': 'MORF4L1', 'score': 12.15}, {'connected_gene': 'LOC105370914', 'score': 0.34}]
chr15 GH15I078851 78851079 78851228 0.54 [{'connected_gene': 'ADAMTS7', 'score': 12.14}, {'connected_gene': 'MORF4L1', 'score': 12.13}, {'connected_gene': 'TRK-CTT1-2', 'score': 0.44}, {'connected_gene': 'LOC390614', 'score': 0.34}]
chr15 GH15I078810 78810016 78812414 1.83 [{'connected_gene': 'ADAMTS7', 'score': 550.77}, {'connected_gene': 'MORF4L1', 'score': 550.77}]
chr15 GH15I078913 78913579 78918096 1.29 [{'connected_gene': 'MORF4L1', 'score': 7.54}, {'connected_gene': 'ADAMTS7P3', 'score': 4.94}, {'connected_gene': 'MTHFS', 'score': 4.27}, {'connected_gene': 'ENSG00000279235', 'score': 0.44}, {'connected_gene': 'CTSH', 'score': 0.29}]
chr15 GH15I078871 78871488 78876126 2.29 [{'connected_gene': 'MORF4L1', 'score': 558.36}, {'connected_gene': 'IREB2', 'score': 33.48}, {'connected_gene': 'ENSG00000259562', 'score': 23.0}, {'connected_gene': 'PSMA4', 'score': 20.52}, {'connected_gene': 'TBC1D2B', 'score': 19.49}, {'connected_gene': 'RNU6-415P', 'score': 12.77}, {'connected_gene': 'ENSG00000260988', 'score': 11.51}, {'connected_gene': 'WDR61', 'score': 11.28}, {'connected_gene': 'LOC100129540', 'score': 11.26}, {'connected_gene': 'ENSG00000259322', 'score': 10.84}, {'connected_gene': 'ADAMTS7', 'score': 8.25}, {'connected_gene': 'RPL21P116', 'score': 0.39}]
chr15 GH15I078910 78909528 78909748 0.76 [{'connected_gene': 'MORF4L1', 'score': 5.87}, {'connected_gene': 'ENSG00000279235', 'score': 0.77}, {'connected_gene': 'CTSH', 'score': 0.28}]
chr15 GH15I078909 78909859 78910528 0.94 [{'connected_gene': 'MORF4L1', 'score': 7.69}, {'connected_gene': 'CHRNA5', 'score': 6.1}, {'connected_gene': 'ENSG00000279235', 'score': 0.77}, {'connected_gene': 'CTSH', 'score': 0.28}]
chr15 GH15I078878 78877967 78880805 1.2 [{'connected_gene': 'MORF4L1', 'score': 558.35}, {'connected_gene': 'LOC100129540', 'score': 11.28}, {'connected_gene': 'ADAMTS7', 'score': 8.04}, {'connected_gene': 'CTSH', 'score': 7.31}, {'connected_gene': 'RNU6-415P', 'score': 0.37}, {'connected_gene': 'RPL21P116', 'score': 0.37}]
chr15 GH15I078877 78877019 78877161 0.66 [{'connected_gene': 'RNU6-415P', 'score': 12.8}, {'connected_gene': 'ADAMTS7', 'score': 12.43}, {'connected_gene': 'LOC100129540', 'score': 11.27}, {'connected_gene': 'CTSH', 'score': 7.18}, {'connected_gene': 'MORF4L1', 'score': 6.5}, {'connected_gene': 'RPL21P116', 'score': 0.39}]
chr15 GH15I078876 78876439 78876588 0.72 [{'connected_gene': 'RNU6-415P', 'score': 12.8}, {'connected_gene': 'LOC100129540', 'score': 11.27}, {'connected_gene': 'RPL21P116', 'score': 0.39}, {'connected_gene': 'MORF4L1', 'score': 0.2}]
chr15 GH15I078726 78726959 78727108 0.71 [{'connected_gene': 'LOC105370913', 'score': 550.77}, {'connected_gene': 'PIR36065', 'score': 550.77}, {'connected_gene': 'CHRNB4', 'score': 550.77}, {'connected_gene': 'ADAMTS7', 'score': 9.85}, {'connected_gene': 'MORF4L1', 'score': 9.85}, {'connected_gene': 'GC15M078021', 'score': 0.31}, {'connected_gene': 'LOC646934', 'score': 0.2}]
chr15 GH15I078858 78858670 78862041 1.8 [{'connected_gene': 'TRK-CTT1-2', 'score': 550.77}, {'connected_gene': 'ADAMTS7', 'score': 26.26}, {'connected_gene': 'MORF4L1', 'score': 17.37}, {'connected_gene': 'ENSG00000259322', 'score': 16.25}, {'connected_gene': 'ENSG00000259562', 'score': 13.62}, {'connected_gene': 'IREB2', 'score': 12.75}, {'connected_gene': 'WDR61', 'score': 12.6}, {'connected_gene': 'TBC1D2B', 'score': 10.95}, {'connected_gene': 'CTSH', 'score': 10.03}, {'connected_gene': 'RASGRF1', 'score': 4.62}, {'connected_gene': 'LOC390614', 'score': 0.31}]
chr15 GH15I078661 78661041 78661428 0.39 [{'connected_gene': 'GC15M078663', 'score': 550.77}, {'connected_gene': 'LOC646934', 'score': 550.77}, {'connected_gene': 'RPL18P11', 'score': 550.77}, {'connected_gene': 'PIR32831', 'score': 550.77}, {'connected_gene': 'CHRNA3', 'score': 12.38}, {'connected_gene': 'CHRNB4', 'score': 5.78}, {'connected_gene': 'MORF4L1', 'score': 3.44}, {'connected_gene': 'GC15M078021', 'score': 0.28}]
chr15 GH15I078714 78714595 78716783 0.72 [{'connected_gene': 'ENSG00000259562', 'score': 24.59}, {'connected_gene': 'LOC646934', 'score': 18.71}, {'connected_gene': 'CHRNA5', 'score': 14.74}, {'connected_gene': 'IREB2', 'score': 12.9}, {'connected_gene': 'MORF4L1', 'score': 11.07}, {'connected_gene': 'ADAMTS7', 'score': 11.07}, {'connected_gene': 'WDR61', 'score': 10.67}, {'connected_gene': 'TBC1D2B', 'score': 10.58}, {'connected_gene': 'ENSG00000260988', 'score': 10.38}, {'connected_gene': 'CTSH', 'score': 4.78}, {'connected_gene': 'LOC105370913', 'score': 0.39}, {'connected_gene': 'CHRNB4', 'score': 0.39}, {'connected_gene': 'GC15M078021', 'score': 0.37}]
chr15 GH15I078209 78209452 78210865 0.8 [{'connected_gene': 'PIR56006', 'score': 550.77}, {'connected_gene': 'ACSBG1', 'score': 10.73}, {'connected_gene': 'MORF4L1', 'score': 5.06}, {'connected_gene': 'GC15P078155', 'score': 0.23}, {'connected_gene': 'GC15M078021', 'score': 0.04}]
chr15 GH15I078905 78905122 78907298 0.71 [{'connected_gene': 'ENSG00000279235', 'score': 550.77}, {'connected_gene': 'LOC100129540', 'score': 11.89}, {'connected_gene': 'CTSH', 'score': 11.51}, {'connected_gene': 'MORF4L1', 'score': 8.3}]

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