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
ENST00000483894 [[78409739, 78409954], [78411190, 78411580]] None
ENST00000480673 [[78409739, 78409954], [78412214, 78412261]] None
ENST00000474632 [[78409739, 78409954], [78411190, 78411327], [78412214, 78412261], [78413137, 78413377]] None
ENST00000489495 [[78409739, 78409954], [78411190, 78411327], [78412214, 78414018]] None
ENST00000488814 [[78409739, 78409954], [78411190, 78411327], [78412214, 78412261], [78413137, 78413237], [78414839, 78414952]] None
ENST00000492405 [[78409739, 78409954], [78411190, 78411327], [78412214, 78412261], [78413137, 78413232], [78414839, 78414985], [78420939, 78420967]] None
ENST00000492724 [[78409739, 78409954], [78411190, 78411327], [78414839, 78414985], [78420939, 78421024]] None
ENST00000294623 [[78412166, 78412261], [78413137, 78413237], [78414839, 78414985], [78420939, 78421014], [78422256, 78422385], [78425868, 78425948], [78426028, 78426180], [78428454, 78428615], [78429258, 78429400], [78429746, 78429847], [78429938, 78430041], [78430330, 78430432], [78430554, 78430653], [78430752, 78430915], [78432377, 78432435], [78432567, 78432639], [78432732, 78432782], [78433310, 78433350], [78433848, 78433887], [78435608, 78435699], [78444568, 78444771]] [[78413198, 78413237], [78414839, 78414985], [78420939, 78421014], [78422256, 78422385], [78425868, 78425948], [78426028, 78426180], [78428454, 78428615], [78429258, 78429400], [78429746, 78429847], [78429938, 78430041], [78430330, 78430432], [78430554, 78430653], [78430752, 78430915], [78432377, 78432435], [78432567, 78432639], [78432732, 78432782], [78433310, 78433350], [78433848, 78433887], [78435608, 78435699], [78444568, 78444688]]
ENST00000370768 [[78414089, 78414459], [78414839, 78414985], [78420939, 78421014], [78422256, 78422385], [78425868, 78425948], [78426028, 78426180], [78428454, 78428615], [78429258, 78429400], [78429746, 78429847], [78429938, 78430041], [78430330, 78430432], [78430554, 78430653], [78430752, 78430915], [78432377, 78432435], [78432567, 78432639], [78432732, 78432785], [78433310, 78433350], [78433848, 78433887], [78435608, 78435699], [78444568, 78444770]] [[78414450, 78414459], [78414839, 78414985], [78420939, 78421014], [78422256, 78422385], [78425868, 78425948], [78426028, 78426180], [78428454, 78428615], [78429258, 78429400], [78429746, 78429847], [78429938, 78430041], [78430330, 78430432], [78430554, 78430653], [78430752, 78430915], [78432377, 78432435], [78432567, 78432639], [78432732, 78432785], [78433310, 78433350], [78433848, 78433887], [78435608, 78435699], [78444568, 78444688]]
ENST00000370767 [[78414089, 78414599], [78414839, 78414985], [78420939, 78421014], [78422256, 78422385], [78425868, 78425948], [78426028, 78426180], [78428454, 78428615], [78429258, 78429400], [78429746, 78429847], [78429938, 78430041], [78430330, 78430432], [78430554, 78430653], [78430752, 78430915], [78432377, 78432435], [78432567, 78432639], [78432732, 78432785], [78433310, 78433350], [78433848, 78433887], [78435608, 78435699], [78444568, 78444776]] [[78414557, 78414599], [78414839, 78414985], [78420939, 78421014], [78422256, 78422385], [78425868, 78425948], [78426028, 78426180], [78428454, 78428615], [78429258, 78429400], [78429746, 78429847], [78429938, 78430041], [78430330, 78430432], [78430554, 78430653], [78430752, 78430915], [78432377, 78432435], [78432567, 78432639], [78432732, 78432785], [78433310, 78433350], [78433848, 78433887], [78435608, 78435699], [78444568, 78444688]]
ENST00000436586 [[78414367, 78414459], [78414839, 78414985], [78420939, 78421014], [78422256, 78422385], [78425868, 78425948], [78426028, 78426180], [78428454, 78428615], [78429258, 78429400], [78429746, 78429847], [78429938, 78430041], [78430330, 78430432], [78430554, 78430653], [78430752, 78430915], [78432377, 78432435], [78432567, 78432639], [78432732, 78432785], [78433310, 78433350], [78433848, 78433887], [78434705, 78434768], [78435608, 78435699], [78444568, 78444745]] [[78414450, 78414459], [78414839, 78414985], [78420939, 78421014], [78422256, 78422385], [78425868, 78425948], [78426028, 78426180], [78428454, 78428615], [78429258, 78429400], [78429746, 78429847], [78429938, 78430041], [78430330, 78430432], [78430554, 78430653], [78430752, 78430915], [78432377, 78432435], [78432567, 78432639], [78432732, 78432785], [78433310, 78433350], [78433848, 78433887], [78434705, 78434768], [78435608, 78435699], [78444568, 78444688]]
ENST00000487684 [[78414654, 78414985], [78420939, 78421143]] None
ENST00000470287 [[78420939, 78421014], [78422256, 78422385], [78425868, 78425948], [78426028, 78426470]] None
ENST00000421641 [[78430752, 78430915], [78432377, 78432435], [78432567, 78432639], [78432732, 78432782], [78433310, 78433350], [78433848, 78433887], [78434705, 78434768], [78435608, 78435699], [78444568, 78444794]] [[78430752, 78430915], [78432377, 78432435], [78432567, 78432639], [78432732, 78432782], [78433310, 78433350], [78433848, 78433887], [78434705, 78434768], [78435608, 78435699], [78444568, 78444688]]
NR_130152 [[78412166, 78412261], [78413137, 78413237], [78414839, 78414985], [78420939, 78421014], [78422256, 78422385], [78425868, 78425948], [78426028, 78426180], [78428454, 78428615], [78429258, 78429400], [78429746, 78429847], [78429938, 78430041], [78430330, 78430432], [78430554, 78430653], [78430752, 78430915], [78432377, 78432435], [78432567, 78432639], [78432732, 78432782], [78433310, 78433350], [78433848, 78433887], [78435608, 78435699], [78444568, 78444889]] None
NM_001303433 [[78414086, 78414459], [78414839, 78414985], [78420939, 78421014], [78422256, 78422385], [78425868, 78425948], [78426028, 78426180], [78428454, 78428615], [78429258, 78429400], [78429746, 78429847], [78429938, 78430041], [78430330, 78430432], [78430554, 78430653], [78430752, 78430915], [78432377, 78432435], [78432567, 78432639], [78432732, 78432785], [78433310, 78433350], [78433848, 78433887], [78434705, 78434768], [78435608, 78435699], [78444568, 78444889]] [[78414450, 78414459], [78414839, 78414985], [78420939, 78421014], [78422256, 78422385], [78425868, 78425948], [78426028, 78426180], [78428454, 78428615], [78429258, 78429400], [78429746, 78429847], [78429938, 78430041], [78430330, 78430432], [78430554, 78430653], [78430752, 78430915], [78432377, 78432435], [78432567, 78432639], [78432732, 78432785], [78433310, 78433350], [78433848, 78433887], [78434705, 78434768], [78435608, 78435699], [78444568, 78444688]]
NM_003902 [[78414086, 78414459], [78414839, 78414985], [78420939, 78421014], [78422256, 78422385], [78425868, 78425948], [78426028, 78426180], [78428454, 78428615], [78429258, 78429400], [78429746, 78429847], [78429938, 78430041], [78430330, 78430432], [78430554, 78430653], [78430752, 78430915], [78432377, 78432435], [78432567, 78432639], [78432732, 78432785], [78433310, 78433350], [78433848, 78433887], [78435608, 78435699], [78444568, 78444889]] [[78414450, 78414459], [78414839, 78414985], [78420939, 78421014], [78422256, 78422385], [78425868, 78425948], [78426028, 78426180], [78428454, 78428615], [78429258, 78429400], [78429746, 78429847], [78429938, 78430041], [78430330, 78430432], [78430554, 78430653], [78430752, 78430915], [78432377, 78432435], [78432567, 78432639], [78432732, 78432785], [78433310, 78433350], [78433848, 78433887], [78435608, 78435699], [78444568, 78444688]]
Promoter
Chrom Start End Description
chr1 78414307 78414311 CAGE_peak_4_at_FUBP1_5end
chr1 78415117 78415121 CAGE_peak_17_at_FUBP1_5end
chr1 78432503 78432507 CAGE_peak_12_at_FUBP1_5end
chr1 78444714 78444725 CAGE_peak_3_at_FUBP1_5end
chr1 78444738 78444773 CAGE_peak_1_at_FUBP1_5end
chr1 78444778 78444800 CAGE_peak_2_at_FUBP1_5end
chr1 78445097 78445110 CAGE_peak_7_at_FUBP1_5end
chr1 78445148 78445170 CAGE_peak_6_at_FUBP1_5end
chr1 78445179 78445193 CAGE_peak_5_at_FUBP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I077965 77965998 77967380 0.31 [{'connected_gene': 'NEXN', 'score': 5.54}, {'connected_gene': 'DNAJB4', 'score': 0.39}, {'connected_gene': 'FUBP1', 'score': 0.39}, {'connected_gene': 'NEXN-AS1', 'score': 0.18}]
chr1 GH01I078831 78831108 78834646 0.96 [{'connected_gene': 'FUBP1', 'score': 12.87}, {'connected_gene': 'ENSG00000273338', 'score': 12.36}, {'connected_gene': 'NEXN', 'score': 3.98}, {'connected_gene': 'LOC652549', 'score': 0.18}, {'connected_gene': 'GC01M078965', 'score': 0.11}]
chr1 GH01I077331 77331039 77336147 0.31 [{'connected_gene': 'FUBP1', 'score': 4.91}, {'connected_gene': 'LOC100131495', 'score': 4.91}, {'connected_gene': 'ENSG00000233099', 'score': 0.37}, {'connected_gene': 'AK5', 'score': 0.23}]
chr1 GH01I078276 78276897 78277989 0.49 [{'connected_gene': 'PTGFR', 'score': 15.46}, {'connected_gene': 'FUBP1', 'score': 4.31}, {'connected_gene': 'PIR53489', 'score': 0.26}, {'connected_gene': 'MGC27382', 'score': 0.25}]
chr1 GH01I077975 77975531 77981032 2.3 [{'connected_gene': 'GIPC2', 'score': 558.59}, {'connected_gene': 'DNAJB4', 'score': 550.77}, {'connected_gene': 'FUBP1', 'score': 550.77}, {'connected_gene': 'NSRP1P1', 'score': 16.28}, {'connected_gene': 'ENSG00000273338', 'score': 12.57}, {'connected_gene': 'USP33', 'score': 10.11}, {'connected_gene': 'ZZZ3', 'score': 9.74}, {'connected_gene': 'NEXN', 'score': 6.34}, {'connected_gene': 'NEXN-AS1', 'score': 0.17}]
chr1 GH01I077886 77886914 77891885 2.13 [{'connected_gene': 'NEXN-AS1', 'score': 555.96}, {'connected_gene': 'NEXN', 'score': 555.62}, {'connected_gene': 'USP33', 'score': 10.37}, {'connected_gene': 'GIPC2', 'score': 7.97}, {'connected_gene': 'FUBP1', 'score': 6.25}, {'connected_gene': 'IFI44', 'score': 5.11}]
chr1 GH01I077329 77329151 77330125 0.2 [{'connected_gene': 'AK5', 'score': 11.66}, {'connected_gene': 'FUBP1', 'score': 4.91}, {'connected_gene': 'LOC100131495', 'score': 4.91}, {'connected_gene': 'ENSG00000233099', 'score': 0.37}]
chr1 GH01I077533 77533524 77541931 1.26 [{'connected_gene': 'AK5', 'score': 13.43}, {'connected_gene': 'ZZZ3', 'score': 10.74}, {'connected_gene': 'FUBP1', 'score': 5.46}, {'connected_gene': 'GC01P077502', 'score': 0.28}, {'connected_gene': 'GC01P077577', 'score': 0.28}]
chr1 GH01I077321 77321099 77323119 1.28 [{'connected_gene': 'AK5', 'score': 20.06}, {'connected_gene': 'ENSG00000233099', 'score': 12.77}, {'connected_gene': 'RNU7-8P', 'score': 9.94}, {'connected_gene': 'FUBP1', 'score': 4.91}, {'connected_gene': 'LOC100131495', 'score': 4.9}]
chr1 GH01I077509 77509377 77516460 1.33 [{'connected_gene': 'AK5', 'score': 16.52}, {'connected_gene': 'ENSG00000233099', 'score': 10.82}, {'connected_gene': 'RNU7-8P', 'score': 10.67}, {'connected_gene': 'ZZZ3', 'score': 10.14}, {'connected_gene': 'GIPC2', 'score': 5.77}, {'connected_gene': 'FUBP1', 'score': 4.47}, {'connected_gene': 'GC01P077502', 'score': 0.39}, {'connected_gene': 'GC01P077577', 'score': 0.21}]
chr1 GH01I077680 77680898 77684896 2.1 [{'connected_gene': 'ZZZ3', 'score': 575.81}, {'connected_gene': 'FUBP1', 'score': 48.24}, {'connected_gene': 'RPL17P6', 'score': 33.4}, {'connected_gene': 'ENSG00000273338', 'score': 10.64}, {'connected_gene': 'NEXN', 'score': 10.3}, {'connected_gene': 'GIPC2', 'score': 7.92}, {'connected_gene': 'AK5', 'score': 7.31}, {'connected_gene': 'DNAJB4', 'score': 6.49}, {'connected_gene': 'RN7SL370P', 'score': 0.28}]
chr1 GH01I077542 77542564 77544214 0.52 [{'connected_gene': 'ZZZ3', 'score': 21.8}, {'connected_gene': 'FUBP1', 'score': 15.31}, {'connected_gene': 'AK5', 'score': 12.83}, {'connected_gene': 'RPL17P6', 'score': 10.67}, {'connected_gene': 'GC01P077577', 'score': 0.29}, {'connected_gene': 'GC01P077502', 'score': 0.26}]
chr1 GH01I077945 77945486 77945689 0.51 [{'connected_gene': 'ZZZ3', 'score': 9.85}, {'connected_gene': 'DNAJB4', 'score': 0.29}, {'connected_gene': 'FUBP1', 'score': 0.29}, {'connected_gene': 'NEXN-AS1', 'score': 0.22}, {'connected_gene': 'NEXN', 'score': 0.22}]
chr1 GH01I077947 77947335 77947604 0.71 [{'connected_gene': 'ZZZ3', 'score': 9.85}, {'connected_gene': 'DNAJB4', 'score': 0.29}, {'connected_gene': 'FUBP1', 'score': 0.29}, {'connected_gene': 'NEXN-AS1', 'score': 0.22}, {'connected_gene': 'NEXN', 'score': 0.22}]
chr1 GH01I077946 77946449 77946668 0.51 [{'connected_gene': 'ZZZ3', 'score': 9.85}, {'connected_gene': 'DNAJB4', 'score': 0.29}, {'connected_gene': 'FUBP1', 'score': 0.29}, {'connected_gene': 'NEXN-AS1', 'score': 0.22}, {'connected_gene': 'NEXN', 'score': 0.22}]
chr1 GH01I077952 77952257 77953141 0.31 [{'connected_gene': 'ZZZ3', 'score': 10.41}, {'connected_gene': 'ACTG1P21', 'score': 9.62}, {'connected_gene': 'RNA5SP21', 'score': 9.62}, {'connected_gene': 'MIGA1', 'score': 9.62}, {'connected_gene': 'NEXN', 'score': 5.56}, {'connected_gene': 'DNAJB4', 'score': 0.31}, {'connected_gene': 'FUBP1', 'score': 0.31}, {'connected_gene': 'NEXN-AS1', 'score': 0.21}]
chr1 GH01I077959 77959534 77962825 0.38 [{'connected_gene': 'USP33', 'score': 10.6}, {'connected_gene': 'NEXN', 'score': 6.31}, {'connected_gene': 'DNAJB4', 'score': 0.37}, {'connected_gene': 'FUBP1', 'score': 0.37}, {'connected_gene': 'NEXN-AS1', 'score': 0.19}]
chr1 GH01I077958 77958167 77959481 0.49 [{'connected_gene': 'USP33', 'score': 10.6}, {'connected_gene': 'GIPC2', 'score': 7.45}, {'connected_gene': 'NEXN', 'score': 4.47}, {'connected_gene': 'DNAJB4', 'score': 0.34}, {'connected_gene': 'FUBP1', 'score': 0.34}, {'connected_gene': 'NEXN-AS1', 'score': 0.2}]
chr1 GH01I077756 77756998 77760552 2.03 [{'connected_gene': 'USP33', 'score': 550.77}, {'connected_gene': 'AK5', 'score': 7.31}, {'connected_gene': 'FUBP1', 'score': 4.9}, {'connected_gene': 'ZZZ3', 'score': 0.18}]
chr1 GH01I077948 77948365 77948632 0.6 [{'connected_gene': 'DNAJB4', 'score': 0.29}, {'connected_gene': 'FUBP1', 'score': 0.29}, {'connected_gene': 'NEXN-AS1', 'score': 0.22}, {'connected_gene': 'NEXN', 'score': 0.22}]
chr1 GH01I077949 77949176 77949325 0.69 [{'connected_gene': 'DNAJB4', 'score': 0.31}, {'connected_gene': 'FUBP1', 'score': 0.31}, {'connected_gene': 'NEXN-AS1', 'score': 0.22}]
chr1 GH01I078002 78002645 78011212 2.76 [{'connected_gene': 'DNAJB4', 'score': 561.9}, {'connected_gene': 'NSRP1P1', 'score': 25.46}, {'connected_gene': 'FUBP1', 'score': 23.06}, {'connected_gene': 'ENSG00000273338', 'score': 13.03}, {'connected_gene': 'USP33', 'score': 11.91}, {'connected_gene': 'ZZZ3', 'score': 9.73}, {'connected_gene': 'GIPC2', 'score': 7.43}, {'connected_gene': 'NEXN', 'score': 6.05}, {'connected_gene': 'LOC100131495', 'score': 0.28}]
chr1 GH01I078619 78619040 78622863 1.86 [{'connected_gene': 'IFI44L', 'score': 550.77}, {'connected_gene': 'ZZZ3', 'score': 53.71}, {'connected_gene': 'ENSG00000273338', 'score': 42.24}, {'connected_gene': 'NSRP1P1', 'score': 38.95}, {'connected_gene': 'FUBP1', 'score': 37.61}, {'connected_gene': 'USP33', 'score': 20.4}, {'connected_gene': 'IFI44', 'score': 12.52}]
chr1 GH01I078061 78061025 78062856 1 [{'connected_gene': 'RNU6-1102P', 'score': 12.06}, {'connected_gene': 'LOC100422537', 'score': 12.06}, {'connected_gene': 'NEXN', 'score': 5.23}, {'connected_gene': 'FUBP1', 'score': 4.21}, {'connected_gene': 'LOC100131495', 'score': 0.37}, {'connected_gene': 'GIPC2', 'score': 0.18}]
chr1 GH01I077829 77829281 77835800 1.09 [{'connected_gene': 'RNA5SP21', 'score': 10.83}, {'connected_gene': 'MIGA1', 'score': 10.83}, {'connected_gene': 'ACTG1P21', 'score': 10.82}, {'connected_gene': 'USP33', 'score': 10.56}, {'connected_gene': 'IFI44', 'score': 5.16}, {'connected_gene': 'NEXN', 'score': 4.51}, {'connected_gene': 'FUBP1', 'score': 4.19}, {'connected_gene': 'NSRP1P1', 'score': 0.39}, {'connected_gene': 'LOC653631', 'score': 0.34}]