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
ENST00000409978 [[39117020, 39117127], [39122917, 39122990], [39146503, 39146613], [39148514, 39148564], [39156047, 39156212], [39156849, 39156971], [39158249, 39158392], [39162915, 39162975], [39164475, 39164700], [39171041, 39171171], [39178129, 39178262], [39180302, 39180386], [39181513, 39181597], [39184039, 39184188], [39185174, 39185339], [39186981, 39187789], [39193146, 39193286], [39200854, 39202590]] [[39146588, 39146613], [39148514, 39148564], [39156047, 39156212], [39156849, 39156971], [39158249, 39158392], [39162915, 39162975], [39164475, 39164700], [39171041, 39171171], [39178129, 39178262], [39180302, 39180386], [39181513, 39181597], [39184039, 39184188], [39185174, 39185339], [39186981, 39187789], [39193146, 39193286], [39200854, 39200984]]
ENST00000536934 [[39146503, 39146613], [39148514, 39148564], [39156047, 39156212], [39156849, 39156971], [39158249, 39158392], [39162915, 39162975], [39164475, 39164700], [39171041, 39171171], [39178129, 39178262], [39180302, 39180386], [39181513, 39181597], [39184039, 39184188], [39185174, 39185339], [39186981, 39187789], [39193146, 39193286], [39199010, 39199062]] [[39146588, 39146613], [39148514, 39148564], [39156047, 39156212], [39156849, 39156971], [39158249, 39158392], [39162915, 39162975], [39164475, 39164700], [39171041, 39171171], [39178129, 39178262], [39180302, 39180386], [39181513, 39181597], [39184039, 39184188], [39185174, 39185339], [39186981, 39187789], [39193146, 39193286], [39199010, 39199062]]
ENST00000398800 [[39146503, 39146613], [39148514, 39148564], [39156047, 39156212], [39156849, 39156971], [39158249, 39158392], [39162915, 39162975], [39164475, 39164700], [39171041, 39171171], [39178129, 39178262], [39180302, 39180386], [39181513, 39181597], [39184039, 39184188], [39185174, 39185339], [39186981, 39187789], [39193146, 39193286], [39200854, 39202586]] [[39146588, 39146613], [39148514, 39148564], [39156047, 39156212], [39156849, 39156971], [39158249, 39158392], [39162915, 39162975], [39164475, 39164700], [39171041, 39171171], [39178129, 39178262], [39180302, 39180386], [39181513, 39181597], [39184039, 39184188], [39185174, 39185339], [39186981, 39187789], [39193146, 39193286], [39200854, 39200984]]
ENST00000486958 [[39185050, 39185339], [39193146, 39193286], [39200854, 39201084]] None
ENST00000411874 [[39187644, 39187780], [39193146, 39193286], [39199010, 39199085], [39200847, 39201010]] [[39187644, 39187780], [39193146, 39193286], [39199010, 39199062]]
ENST00000433605 [[39187645, 39187780], [39193146, 39193286], [39199010, 39199085], [39200150, 39200394]] [[39187645, 39187780], [39193146, 39193286], [39199010, 39199062]]
ENST00000430382 [[39187701, 39187780], [39193146, 39193286], [39196545, 39196782]] None
ENST00000488692 [[39155920, 39156212], [39156849, 39156971], [39158249, 39158450]] None
ENST00000483305 [[39185195, 39185339], [39186561, 39186695], [39186981, 39187212]] None
NM_001145451 [[39146503, 39146613], [39148514, 39148564], [39156047, 39156212], [39156849, 39156971], [39158249, 39158392], [39162915, 39162975], [39164475, 39164700], [39171041, 39171171], [39178129, 39178262], [39180302, 39180386], [39181513, 39181597], [39184039, 39184188], [39185174, 39185339], [39186981, 39187789], [39193146, 39193286], [39200854, 39202590]] [[39146588, 39146613], [39148514, 39148564], [39156047, 39156212], [39156849, 39156971], [39158249, 39158392], [39162915, 39162975], [39164475, 39164700], [39171041, 39171171], [39178129, 39178262], [39180302, 39180386], [39181513, 39181597], [39184039, 39184188], [39185174, 39185339], [39186981, 39187789], [39193146, 39193286], [39200854, 39200984]]
Promoter
Chrom Start End Description
chr2 39116979 39116989 CAGE_peak_5_at_ARHGEF33_5end
chr2 39116996 39117003 CAGE_peak_7_at_ARHGEF33_5end
chr2 39117010 39117021 CAGE_peak_3_at_ARHGEF33_5end
chr2 39117073 39117091 CAGE_peak_6_at_ARHGEF33_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I038681 38681851 38683465 0.51 [{'connected_gene': 'HNRNPLL', 'score': 10.97}, {'connected_gene': 'ENSG00000235586', 'score': 10.96}, {'connected_gene': 'GALM', 'score': 7.75}, {'connected_gene': 'ARHGEF33', 'score': 4.52}, {'connected_gene': 'ENSG00000232518', 'score': 0.39}, {'connected_gene': 'SRSF7', 'score': 0.2}]
chr2 GH02I038907 38907132 38909218 0.86 [{'connected_gene': 'DHX57', 'score': 20.91}, {'connected_gene': 'RNU6-851P', 'score': 12.13}, {'connected_gene': 'MORN2', 'score': 11.59}, {'connected_gene': 'ENSG00000225284', 'score': 11.24}, {'connected_gene': 'GC02M038898', 'score': 0.44}, {'connected_gene': 'ARHGEF33', 'score': 0.37}, {'connected_gene': 'GC02P038937', 'score': 0.31}]
chr2 GH02I038945 38945240 38946260 0.89 [{'connected_gene': 'MORN2', 'score': 10.87}, {'connected_gene': 'DHX57', 'score': 10.87}, {'connected_gene': 'RN7SL96P', 'score': 0.44}, {'connected_gene': 'LOC105374471', 'score': 0.44}, {'connected_gene': 'ARHGEF33', 'score': 0.22}]
chr2 GH02I038908 38906559 38906743 0.2 [{'connected_gene': 'MORN2', 'score': 11.41}, {'connected_gene': 'DHX57', 'score': 11.41}, {'connected_gene': 'GC02M038898', 'score': 0.44}, {'connected_gene': 'ARHGEF33', 'score': 0.37}, {'connected_gene': 'GC02P038937', 'score': 0.29}]
chr2 GH02I038906 38906280 38906429 0.2 [{'connected_gene': 'MORN2', 'score': 11.41}, {'connected_gene': 'DHX57', 'score': 11.41}, {'connected_gene': 'GC02M038898', 'score': 0.44}, {'connected_gene': 'ARHGEF33', 'score': 0.37}, {'connected_gene': 'GC02P038937', 'score': 0.29}]
chr2 GH02I039215 39215850 39218688 1.32 [{'connected_gene': 'SOS1', 'score': 44.03}, {'connected_gene': 'SRSF7', 'score': 15.29}, {'connected_gene': 'THUMPD2', 'score': 13.81}, {'connected_gene': 'ARHGEF33', 'score': 13.67}, {'connected_gene': 'ENSG00000202309', 'score': 12.02}, {'connected_gene': 'ENSG00000252473', 'score': 10.57}, {'connected_gene': 'DHX57', 'score': 9.72}, {'connected_gene': 'MORN2', 'score': 9.72}, {'connected_gene': 'CDKL4', 'score': 0.31}, {'connected_gene': 'GC02M039185', 'score': 0.29}]
chr2 GH02I038749 38749199 38752720 2.34 [{'connected_gene': 'SRSF7', 'score': 626.52}, {'connected_gene': 'GEMIN6', 'score': 550.77}, {'connected_gene': 'SOS1', 'score': 22.63}, {'connected_gene': 'DHX57', 'score': 13.9}, {'connected_gene': 'ARHGEF33', 'score': 12.1}, {'connected_gene': 'GALM', 'score': 7.48}, {'connected_gene': 'ASS1P2', 'score': 6.64}, {'connected_gene': 'LOC728730', 'score': 4.33}, {'connected_gene': 'ENSG00000232518', 'score': 0.18}]
chr2 GH02I038946 38946916 38948001 1.05 [{'connected_gene': 'SRSF7', 'score': 13.36}, {'connected_gene': 'MORN2', 'score': 10.87}, {'connected_gene': 'DHX57', 'score': 10.87}, {'connected_gene': 'ENSG00000225284', 'score': 10.8}, {'connected_gene': 'LOC105374471', 'score': 0.44}, {'connected_gene': 'RN7SL96P', 'score': 0.39}, {'connected_gene': 'ARHGEF33', 'score': 0.22}]
chr2 GH02I038959 38959861 38961201 0.96 [{'connected_gene': 'LOC375196', 'score': 550.77}, {'connected_gene': 'DHX57', 'score': 21.8}, {'connected_gene': 'ASS1P2', 'score': 13.04}, {'connected_gene': 'MORN2', 'score': 10.94}, {'connected_gene': 'THUMPD2', 'score': 10.52}, {'connected_gene': 'SRSF7', 'score': 10.4}, {'connected_gene': 'SOS1', 'score': 4.65}, {'connected_gene': 'SOS1-IT1', 'score': 0.29}, {'connected_gene': 'ARHGEF33', 'score': 0.19}]
chr2 GH02I038719 38719914 38721963 1.11 [{'connected_gene': 'GALM', 'score': 5.9}, {'connected_gene': 'ARHGEF33', 'score': 5.3}, {'connected_gene': 'SRSF7', 'score': 0.29}, {'connected_gene': 'ENSG00000232518', 'score': 0.25}]
chr2 GH02I038943 38943449 38944580 0.38 [{'connected_gene': 'RN7SL96P', 'score': 0.44}, {'connected_gene': 'LOC105374471', 'score': 0.44}, {'connected_gene': 'ARHGEF33', 'score': 0.23}]
chr2 GH02I038238 38238956 38240123 0.72 [{'connected_gene': 'LOC102723739', 'score': 550.77}, {'connected_gene': 'SRSF7', 'score': 72.9}, {'connected_gene': 'SOS1', 'score': 41.79}, {'connected_gene': 'DHX57', 'score': 40.61}, {'connected_gene': 'ARHGEF33', 'score': 25.09}, {'connected_gene': 'ASS1P2', 'score': 21.68}, {'connected_gene': 'HNRNPLL', 'score': 11.19}, {'connected_gene': 'ENSG00000229160', 'score': 7.04}, {'connected_gene': 'ATL2', 'score': 4.96}, {'connected_gene': 'GC02P038231', 'score': 0.44}, {'connected_gene': 'GC02M038108', 'score': 0.07}]
chr2 GH02I038866 38866476 38867907 0.38 [{'connected_gene': 'ARHGEF33', 'score': 6.64}, {'connected_gene': 'ENSG00000225284', 'score': 0.44}, {'connected_gene': 'DHX57', 'score': 0.44}]
chr2 GH02I038661 38661471 38661629 0.22 [{'connected_gene': 'ARHGEF33', 'score': 3.03}, {'connected_gene': 'GALM', 'score': 0.77}, {'connected_gene': 'HNRNPLL', 'score': 0.22}]
chr2 GH02I038497 38497690 38498961 1.12 [{'connected_gene': 'ARHGEF33', 'score': 3.25}, {'connected_gene': 'GC02M038108', 'score': 0.44}, {'connected_gene': 'LOC101929596', 'score': 0.37}]
chr2 GH02I038852 38852147 38852356 0.27 [{'connected_gene': 'GC02P038853', 'score': 550.77}, {'connected_gene': 'MORN2', 'score': 11.68}, {'connected_gene': 'DHX57', 'score': 11.68}, {'connected_gene': 'ARHGEF33', 'score': 1.86}, {'connected_gene': 'SRSF7', 'score': 1.35}, {'connected_gene': 'LOC105374470', 'score': 0.37}]
chr2 GH02I038095 38095012 38099600 1.61 [{'connected_gene': 'ENSG00000272054', 'score': 20.44}, {'connected_gene': 'CYP1B1', 'score': 17.5}, {'connected_gene': 'CYP1B1-AS1', 'score': 16.68}, {'connected_gene': 'SRSF7', 'score': 15.28}, {'connected_gene': 'DHX57', 'score': 14.52}, {'connected_gene': 'ARHGEF33', 'score': 13.65}, {'connected_gene': 'RMDN2-AS1', 'score': 11.68}, {'connected_gene': 'HNRNPLL', 'score': 11.17}, {'connected_gene': 'CEBPZ', 'score': 10.23}, {'connected_gene': 'CDC42EP3', 'score': 2.42}]
chr2 GH02I038669 38669926 38671871 0.31 [{'connected_gene': 'ENSG00000232518', 'score': 550.77}, {'connected_gene': 'GALM', 'score': 17.09}, {'connected_gene': 'ARHGEF33', 'score': 4.05}]
chr2 GH02I039111 39111405 39111979 0.23 [{'connected_gene': 'GC02P039110', 'score': 550.77}, {'connected_gene': 'ARHGEF33', 'score': 4.69}, {'connected_gene': 'SOS1', 'score': 0.39}]