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
ENST00000583700 [[20378223, 20378450], [20491562, 20491648], [20495382, 20495448], [20509345, 20509400], [20516716, 20516846]] [[20516814, 20516846]]
ENST00000327155 [[20513277, 20513527], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606449]] [[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606203]]
ENST00000399722 [[20513788, 20514041], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606451]] [[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606203]]
ENST00000399725 [[20513803, 20514122], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20602091, 20602233], [20606105, 20606449]] [[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20602091, 20602233], [20606105, 20606210]]
ENST00000360790 [[20514712, 20514737], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581533, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606333]] [[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581533, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606203]]
ENST00000583057 [[20573446, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20596790, 20596887], [20602091, 20602233], [20606105, 20606430]] [[20573446, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20596790, 20596887], [20602091, 20602233], [20606105, 20606210]]
ENST00000579124 [[20494083, 20494269], [20495382, 20495448], [20516716, 20516923], [20526406, 20526449], [20529580, 20529621]] [[20516814, 20516923], [20526406, 20526449], [20529580, 20529621]]
ENST00000577588 [[20494085, 20494269], [20495382, 20495448], [20496903, 20496989], [20509345, 20509400], [20516716, 20516903]] [[20516814, 20516903]]
ENST00000582354 [[20494085, 20494269], [20495382, 20495448], [20509345, 20509400], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564860]] [[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564860]]
ENST00000581819 [[20494101, 20494269], [20509345, 20509400], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548773]] [[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548773]]
ENST00000399721 [[20513838, 20514227], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573532]] [[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573532]]
ENST00000583594 [[20513843, 20514122], [20516716, 20516923], [20517022, 20517081]] [[20516814, 20516923], [20517022, 20517081]]
ENST00000580892 [[20526301, 20526449], [20529580, 20529998]] None
ENST00000577445 [[20548804, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569234, 20569281], [20570899, 20570907]] [[20548804, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569234, 20569281], [20570899, 20570907]]
ENST00000585177 [[20555143, 20555182], [20557752, 20557850], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20570989]] [[20555143, 20555182]]
ENST00000581687 [[20596758, 20596887], [20602091, 20602233], [20606105, 20606451]] [[20602103, 20602233], [20606105, 20606203]]
NM_002894 [[20513294, 20513527], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606449]] [[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606203]]
NM_203291 [[20513838, 20514041], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606449]] [[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20596790, 20596887], [20602091, 20602233], [20606105, 20606203]]
NM_203292 [[20513838, 20514122], [20516716, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20602091, 20602233], [20606105, 20606449]] [[20516814, 20516923], [20526406, 20526449], [20529580, 20529676], [20548768, 20548881], [20555115, 20555182], [20562180, 20562356], [20564848, 20564953], [20569183, 20569281], [20570899, 20571012], [20572710, 20573602], [20573683, 20573810], [20576336, 20576425], [20577582, 20577697], [20581548, 20581692], [20586325, 20586395], [20602091, 20602233], [20606105, 20606210]]
Promoter
Chrom Start End Description
chr18 20513281 20513306 CAGE_peak_2_at_RBBP8_5end
chr18 20513782 20513859 CAGE_peak_1_at_RBBP8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I023224 23224199 23232776 1.7 [{'connected_gene': 'CABLES1', 'score': 11.34}, {'connected_gene': 'TMEM241', 'score': 7.56}, {'connected_gene': 'NPC1', 'score': 7.28}, {'connected_gene': 'RMC1', 'score': 5.34}, {'connected_gene': 'RBBP8', 'score': 5.08}, {'connected_gene': 'PIR48090', 'score': 0.44}, {'connected_gene': 'GC18M023230', 'score': 0.39}]
chr18 GH18I023271 23271087 23271217 0.24 [{'connected_gene': 'CABLES1', 'score': 10.69}, {'connected_gene': 'RBBP8', 'score': 6.5}, {'connected_gene': 'NPC1', 'score': 4.91}, {'connected_gene': 'RMC1', 'score': 2.02}, {'connected_gene': 'ENSG00000266495', 'score': 0.39}, {'connected_gene': 'TMEM241', 'score': 0.1}]
chr18 GH18I022055 22055579 22058498 0.87 [{'connected_gene': 'RBBP8', 'score': 9.91}, {'connected_gene': 'ABHD3', 'score': 6.82}, {'connected_gene': 'GREB1L', 'score': 4.43}, {'connected_gene': 'SNRPD1', 'score': 4.03}, {'connected_gene': 'GC18P022048', 'score': 0.44}, {'connected_gene': 'ENSG00000263588', 'score': 0.29}]
chr18 GH18I022977 22977261 22979286 0.97 [{'connected_gene': 'RBBP8', 'score': 11.9}, {'connected_gene': 'RN7SL745P', 'score': 0.31}, {'connected_gene': 'ENSG00000265943', 'score': 0.26}]
chr18 GH18I022936 22936001 22936400 0.2 [{'connected_gene': 'RBBP8', 'score': 7.93}, {'connected_gene': 'LOC101927571', 'score': 7.88}, {'connected_gene': 'ENSG00000265943', 'score': 0.77}, {'connected_gene': 'RN7SL745P', 'score': 0.2}]
chr18 GH18I022855 22855600 22859000 0.51 [{'connected_gene': 'RBBP8', 'score': 19.1}, {'connected_gene': 'LOC101927571', 'score': 8.26}, {'connected_gene': 'PIR41681', 'score': 0.31}, {'connected_gene': 'ENSG00000273232', 'score': 0.31}, {'connected_gene': 'ENSG00000265943', 'score': 0.18}]
chr18 GH18I022722 22722711 22725034 0.51 [{'connected_gene': 'RBBP8', 'score': 4.41}, {'connected_gene': 'GC18P022670', 'score': 0.23}, {'connected_gene': 'PIR60003', 'score': 0.21}, {'connected_gene': 'LOC101927571', 'score': 0.09}, {'connected_gene': 'ENSG00000265943', 'score': 0.08}]
chr18 GH18I022726 22726903 22729468 0.58 [{'connected_gene': 'RBBP8', 'score': 4.4}, {'connected_gene': 'PIR60003', 'score': 0.22}, {'connected_gene': 'GC18P022670', 'score': 0.22}, {'connected_gene': 'LOC101927571', 'score': 0.1}, {'connected_gene': 'ENSG00000265943', 'score': 0.08}]
chr18 GH18I022821 22821658 22823199 0.96 [{'connected_gene': 'RBBP8', 'score': 6.1}, {'connected_gene': 'PIR41681', 'score': 0.77}, {'connected_gene': 'LOC101927571', 'score': 0.17}, {'connected_gene': 'ENSG00000265943', 'score': 0.14}]
chr18 GH18I022798 22798178 22801284 0.88 [{'connected_gene': 'RBBP8', 'score': 557.71}, {'connected_gene': 'PIR41681', 'score': 0.31}, {'connected_gene': 'LOC101927571', 'score': 0.14}, {'connected_gene': 'ENSG00000265943', 'score': 0.12}]
chr18 GH18I022932 22932490 22935800 2.23 [{'connected_gene': 'RBBP8', 'score': 558.71}, {'connected_gene': 'ENSG00000265943', 'score': 550.77}, {'connected_gene': 'MIR4741', 'score': 550.77}, {'connected_gene': 'RMC1', 'score': 17.08}, {'connected_gene': 'LOC101927571', 'score': 12.1}, {'connected_gene': 'RN7SL745P', 'score': 0.19}]
chr18 GH18I022163 22163305 22199675 3.14 [{'connected_gene': 'GATA6', 'score': 559.78}, {'connected_gene': 'RNU6-702P', 'score': 550.77}, {'connected_gene': 'GC18M022181', 'score': 550.77}, {'connected_gene': 'ESCO1', 'score': 25.37}, {'connected_gene': 'RBBP8', 'score': 12.07}, {'connected_gene': 'MIB1', 'score': 11.2}, {'connected_gene': 'SNRPD1', 'score': 10.26}, {'connected_gene': 'LOC105372019', 'score': 5.69}, {'connected_gene': 'ENSG00000264012', 'score': 0.77}, {'connected_gene': 'GATA6-AS1', 'score': 0.39}, {'connected_gene': 'GC18M022162', 'score': 0.37}, {'connected_gene': 'ENSG00000266283', 'score': 0.34}]
chr18 GH18I023420 23420874 23424141 1.45 [{'connected_gene': 'NPC1', 'score': 14.29}, {'connected_gene': 'RMC1', 'score': 13.39}, {'connected_gene': 'RIOK3', 'score': 12.03}, {'connected_gene': 'CABLES1', 'score': 10.72}, {'connected_gene': 'RBBP8', 'score': 4.49}, {'connected_gene': 'TMEM241', 'score': 0.37}, {'connected_gene': 'ENSG00000266495', 'score': 0.1}]
chr18 GH18I022489 22489358 22495420 1.59 [{'connected_gene': 'ESCO1', 'score': 39.65}, {'connected_gene': 'MIB1', 'score': 23.6}, {'connected_gene': 'SNRPD1', 'score': 19.56}, {'connected_gene': 'RBBP8', 'score': 9.83}, {'connected_gene': 'MIR133A1HG', 'score': 4.12}, {'connected_gene': 'GC18P022454', 'score': 0.28}, {'connected_gene': 'RPS4XP18', 'score': 0.16}]
chr18 GH18I022912 22912376 22917097 0.98 [{'connected_gene': 'LOC101927571', 'score': 12.23}, {'connected_gene': 'RBBP8', 'score': 7.28}, {'connected_gene': 'GC18M022908', 'score': 0.77}, {'connected_gene': 'GC18M022924', 'score': 0.39}, {'connected_gene': 'ENSG00000265943', 'score': 0.37}]
chr18 GH18I022846 22846029 22849336 0.74 [{'connected_gene': 'LOC101927571', 'score': 11.53}, {'connected_gene': 'RBBP8', 'score': 7.34}, {'connected_gene': 'PIR41681', 'score': 0.34}, {'connected_gene': 'ENSG00000273232', 'score': 0.28}, {'connected_gene': 'ENSG00000265943', 'score': 0.17}]
chr18 GH18I022829 22829855 22830587 0.4 [{'connected_gene': 'LOC101927571', 'score': 8.3}, {'connected_gene': 'PIR41681', 'score': 0.77}, {'connected_gene': 'RBBP8', 'score': 0.29}, {'connected_gene': 'ENSG00000273232', 'score': 0.23}, {'connected_gene': 'ENSG00000265943', 'score': 0.15}]
chr18 GH18I023037 23037718 23037867 0.31 [{'connected_gene': 'LOC101927571', 'score': 8.45}, {'connected_gene': 'RBBP8', 'score': 6.72}, {'connected_gene': 'ENSG00000223023', 'score': 0.39}, {'connected_gene': 'GC18M023066', 'score': 0.18}]
chr18 GH18I022831 22831100 22832177 1.35 [{'connected_gene': 'LOC101927571', 'score': 8.3}, {'connected_gene': 'RBBP8', 'score': 3.51}, {'connected_gene': 'PIR41681', 'score': 0.77}, {'connected_gene': 'ENSG00000273232', 'score': 0.23}, {'connected_gene': 'ENSG00000265943', 'score': 0.15}]
chr18 GH18I022816 22816437 22818719 0.93 [{'connected_gene': 'LOC101927571', 'score': 8.24}, {'connected_gene': 'RBBP8', 'score': 7.4}, {'connected_gene': 'PIR41681', 'score': 0.44}, {'connected_gene': 'ENSG00000265943', 'score': 0.13}]
chr18 GH18I022813 22813680 22814974 0.84 [{'connected_gene': 'LOC101927571', 'score': 8.17}, {'connected_gene': 'RBBP8', 'score': 7.31}, {'connected_gene': 'PIR41681', 'score': 0.39}, {'connected_gene': 'ENSG00000265943', 'score': 0.13}]
chr18 GH18I023031 23031402 23033501 0.77 [{'connected_gene': 'LOC101927571', 'score': 8.22}, {'connected_gene': 'RBBP8', 'score': 8.18}, {'connected_gene': 'ENSG00000223023', 'score': 0.44}, {'connected_gene': 'GC18M023066', 'score': 0.18}]
chr18 GH18I022871 22871813 22873954 0.92 [{'connected_gene': 'LOC101927571', 'score': 11.61}, {'connected_gene': 'ENSG00000273232', 'score': 0.39}, {'connected_gene': 'PIR41681', 'score': 0.25}, {'connected_gene': 'ENSG00000265943', 'score': 0.21}, {'connected_gene': 'RBBP8', 'score': 0.19}]
chr18 GH18I022843 22843330 22845572 0.58 [{'connected_gene': 'LOC101927571', 'score': 8.34}, {'connected_gene': 'PIR41681', 'score': 0.37}, {'connected_gene': 'ENSG00000273232', 'score': 0.28}, {'connected_gene': 'RBBP8', 'score': 0.25}, {'connected_gene': 'ENSG00000265943', 'score': 0.17}]
chr18 GH18I022930 22930198 22930407 0.59 [{'connected_gene': 'LOC101927571', 'score': 8.37}, {'connected_gene': 'ENSG00000265943', 'score': 0.77}, {'connected_gene': 'MIR4741', 'score': 0.77}, {'connected_gene': 'GC18M022924', 'score': 0.77}, {'connected_gene': 'RBBP8', 'score': 0.12}]
chr18 GH18I022838 22838601 22840292 0.96 [{'connected_gene': 'PIR41681', 'score': 0.39}, {'connected_gene': 'RBBP8', 'score': 0.26}, {'connected_gene': 'ENSG00000273232', 'score': 0.26}, {'connected_gene': 'LOC101927571', 'score': 0.2}, {'connected_gene': 'ENSG00000265943', 'score': 0.16}]
chr18 GH18I022825 22825004 22825536 0.2 [{'connected_gene': 'PIR41681', 'score': 0.77}, {'connected_gene': 'RBBP8', 'score': 0.31}, {'connected_gene': 'LOC101927571', 'score': 0.18}, {'connected_gene': 'ENSG00000265943', 'score': 0.14}]
chr18 GH18I022826 22825540 22828660 0.99 [{'connected_gene': 'PIR41681', 'score': 550.77}, {'connected_gene': 'LOC101927571', 'score': 8.29}, {'connected_gene': 'RBBP8', 'score': 0.31}, {'connected_gene': 'ENSG00000265943', 'score': 0.14}]
chr18 GH18I022868 22868031 22869534 0.4 [{'connected_gene': 'ENSG00000273232', 'score': 0.39}, {'connected_gene': 'LOC101927571', 'score': 0.28}, {'connected_gene': 'PIR41681', 'score': 0.26}, {'connected_gene': 'ENSG00000265943', 'score': 0.21}, {'connected_gene': 'RBBP8', 'score': 0.19}]