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
ENST00000527132 [[11984652, 11986016], [12029916, 12030177]] None
ENST00000396505 [[11984652, 11986233], [11987355, 11987512], [11988500, 11988645], [11989941, 11990034], [12020242, 12020326], [12023846, 12023984], [12029916, 12030155], [12030416, 12030629]] [[11986010, 11986233], [11987355, 11987512], [11988500, 11988645], [11989941, 11990034], [12020242, 12020326], [12023846, 12023984], [12029916, 12030129]]
ENST00000326932 [[11984652, 11986233], [11987355, 11987512], [11988500, 11988645], [11989941, 11990034], [12020242, 12020326], [12023846, 12023984], [12029916, 12030155], [12030718, 12030917]] [[11986010, 11986233], [11987355, 11987512], [11988500, 11988645], [11989941, 11990034], [12020242, 12020326], [12023846, 12023984], [12029916, 12030129]]
ENST00000525493 [[11985937, 11986275], [11987355, 11987512], [11988500, 11988645], [11989941, 11990034], [12020242, 12020326], [12023846, 12023984], [12029916, 12030155], [12031184, 12031316]] [[11986010, 11986275], [11987355, 11987512], [11988500, 11988645], [11989941, 11990034], [12020242, 12020326], [12023846, 12023984], [12029916, 12030129]]
ENST00000450094 [[11985977, 11986233], [11987355, 11987512], [11988500, 11988645], [11989941, 11990034], [12023846, 12023984], [12029916, 12030130]] [[11986010, 11986233], [11987355, 11987512], [11988500, 11988645], [11989941, 11990034], [12023846, 12023984]]
ENST00000528188 [[11986161, 11986233], [11987355, 11987512], [11988500, 11988645], [11989941, 11990034], [12016167, 12016266]] None
ENST00000532372 [[11987396, 11987512], [11988500, 11988645], [11989941, 11990293]] None
ENST00000525927 [[11987419, 11987512], [11988500, 11988645], [11989941, 11990034], [12001232, 12001463]] None
ENST00000532873 [[11987426, 11987512], [11988500, 11988645], [11989941, 11990034], [12020242, 12020326], [12023846, 12023984], [12030416, 12030444]] None
ENST00000533813 [[11987481, 11987512], [11988500, 11988645], [11989941, 11990034], [12020242, 12020326], [12023846, 12023984], [12029916, 12030155], [12030585, 12030758]] [[11987481, 11987512], [11988500, 11988645], [11989941, 11990034], [12020242, 12020326], [12023846, 12023984], [12029916, 12030129]]
ENST00000534511 [[11988539, 11988645], [11989941, 11990034], [12023846, 12023984], [12029916, 12030171]] [[11988539, 11988645], [11989941, 11990034], [12023846, 12023984], [12029916, 12030129]]
ENST00000529338 [[11989989, 11990034], [12023846, 12023984], [12029916, 12030155], [12030585, 12030684]] [[11989989, 11990034], [12023846, 12023984], [12029916, 12030129]]
ENST00000526218 [[12000386, 12000601], [12001232, 12001330], [12020242, 12020326], [12023846, 12023984], [12029916, 12030155], [12031184, 12031272]] None
ENST00000531309 [[12019746, 12020326], [12023846, 12023973]] None
ENST00000530694 [[12023221, 12023422], [12023846, 12023984], [12029916, 12030155], [12031184, 12031284]] None
ENST00000534479 [[12023295, 12023984], [12029916, 12030155], [12030718, 12030877]] None
ENST00000533900 [[12023450, 12023749], [12023846, 12023984], [12029916, 12030155], [12030718, 12030759]] None
NM_001018057 [[11984542, 11986233], [11987355, 11987512], [11988500, 11988645], [11989941, 11990034], [12020242, 12020326], [12023846, 12023984], [12029916, 12030186]] [[11986010, 11986233], [11987355, 11987512], [11988500, 11988645], [11989941, 11990034], [12020242, 12020326], [12023846, 12023984], [12029916, 12030129]]
NM_015881 [[11984542, 11986233], [11987355, 11987512], [11988500, 11988645], [11989941, 11990034], [12020242, 12020326], [12023846, 12023984], [12029916, 12030155], [12030416, 12030629]] [[11986010, 11986233], [11987355, 11987512], [11988500, 11988645], [11989941, 11990034], [12020242, 12020326], [12023846, 12023984], [12029916, 12030129]]
NM_001330220 [[11984542, 11986275], [11987355, 11987512], [11988500, 11988645], [11989941, 11990034], [12020242, 12020326], [12023846, 12023984], [12029916, 12030155], [12030718, 12030917]] [[11986010, 11986275], [11987355, 11987512], [11988500, 11988645], [11989941, 11990034], [12020242, 12020326], [12023846, 12023984], [12029916, 12030129]]
NM_013253 [[11984542, 11986233], [11987355, 11987512], [11988500, 11988645], [11989941, 11990034], [12020242, 12020326], [12023846, 12023984], [12029916, 12030155], [12030718, 12030917]] [[11986010, 11986233], [11987355, 11987512], [11988500, 11988645], [11989941, 11990034], [12020242, 12020326], [12023846, 12023984], [12029916, 12030129]]
Promoter
Chrom Start End Description
chr11 11985769 11985800 CAGE_peak_13_at_DKK3_5end
chr11 11985829 11985841 CAGE_peak_26_at_DKK3_5end
chr11 12023924 12023940 CAGE_peak_15_at_DKK3_5end
chr11 12030131 12030183 CAGE_peak_1_at_DKK3_5end
chr11 12030188 12030199 CAGE_peak_5_at_DKK3_5end
chr11 12030588 12030599 CAGE_peak_9_at_DKK3_5end
chr11 12030633 12030644 CAGE_peak_8_at_DKK3_5end
chr11 12030681 12030692 CAGE_peak_10_at_DKK3_5end
chr11 12030746 12030757 CAGE_peak_11_at_DKK3_5end
chr11 12030770 12030824 CAGE_peak_3_at_DKK3_5end
chr11 12030834 12030845 CAGE_peak_7_at_DKK3_5end
chr11 12030847 12030895 CAGE_peak_2_at_DKK3_5end
chr11 12030905 12030916 CAGE_peak_6_at_DKK3_5end
chr11 12031073 12031088 CAGE_peak_12_at_DKK3_5end
chr11 12031273 12031359 CAGE_peak_4_at_DKK3_5end
chr11 12031383 12031390 CAGE_peak_34_at_DKK3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I012018 12018800 12021303 0.89 [{'connected_gene': 'MICAL2', 'score': 9.65}, {'connected_gene': 'DKK3', 'score': 6.95}, {'connected_gene': 'LINC02547', 'score': 0.39}]
chr11 GH11I012283 12283842 12289539 2.05 [{'connected_gene': 'MICALCL', 'score': 553.22}, {'connected_gene': 'MICAL2', 'score': 14.91}, {'connected_gene': 'ENSG00000254680', 'score': 11.29}, {'connected_gene': 'PARVA', 'score': 6.59}, {'connected_gene': 'TEAD1', 'score': 1.47}, {'connected_gene': 'DKK3', 'score': 1.32}, {'connected_gene': 'ENSG00000254983', 'score': 0.37}, {'connected_gene': 'GC11M012237', 'score': 0.31}]
chr11 GH11I011908 11908940 11910947 0.38 [{'connected_gene': 'USP47', 'score': 25.31}, {'connected_gene': 'MICAL2', 'score': 9.03}, {'connected_gene': 'GC11P011898', 'score': 0.39}, {'connected_gene': 'DKK3', 'score': 0.15}]
chr11 GH11I011968 11968111 11969861 0.69 [{'connected_gene': 'USP47', 'score': 7.01}, {'connected_gene': 'DKK3', 'score': 0.26}, {'connected_gene': 'GC11P011898', 'score': 0.19}]
chr11 GH11I011970 11970438 11970870 0.31 [{'connected_gene': 'USP47', 'score': 4.68}, {'connected_gene': 'DKK3', 'score': 0.28}, {'connected_gene': 'GC11P011898', 'score': 0.19}]
chr11 GH11I011948 11948644 11949058 0.74 [{'connected_gene': 'USP47', 'score': 10.0}, {'connected_gene': 'GC11P011898', 'score': 0.23}, {'connected_gene': 'DKK3', 'score': 0.21}]
chr11 GH11I011963 11963041 11966118 0.62 [{'connected_gene': 'USP47', 'score': 11.65}, {'connected_gene': 'DKK3', 'score': 0.25}, {'connected_gene': 'GC11P011898', 'score': 0.2}]
chr11 GH11I011971 11971206 11971771 0.31 [{'connected_gene': 'USP47', 'score': 10.61}, {'connected_gene': 'DKK3', 'score': 0.28}, {'connected_gene': 'GC11P011898', 'score': 0.19}]
chr11 GH11I011916 11916543 11917703 0.31 [{'connected_gene': 'USP47', 'score': 16.55}, {'connected_gene': 'GC11P011898', 'score': 0.37}, {'connected_gene': 'DKK3', 'score': 0.16}]
chr11 GH11I011959 11959521 11962685 0.46 [{'connected_gene': 'USP47', 'score': 14.07}, {'connected_gene': 'DKK3', 'score': 6.42}, {'connected_gene': 'GC11P011898', 'score': 0.21}]
chr11 GH11I011946 11946790 11947224 0.2 [{'connected_gene': 'USP47', 'score': 9.99}, {'connected_gene': 'GC11P011898', 'score': 0.25}, {'connected_gene': 'DKK3', 'score': 0.21}]
chr11 GH11I011972 11972543 11984168 1.46 [{'connected_gene': 'DKK3', 'score': 12.35}, {'connected_gene': 'MICAL2', 'score': 9.65}, {'connected_gene': 'USP47', 'score': 8.68}, {'connected_gene': 'GALNT18', 'score': 5.3}, {'connected_gene': 'MICALCL', 'score': 1.78}, {'connected_gene': 'GC11P011898', 'score': 0.18}]
chr11 GH11I012048 12048479 12049911 0.74 [{'connected_gene': 'DKK3', 'score': 22.32}, {'connected_gene': 'MICAL2', 'score': 14.46}, {'connected_gene': 'ENSG00000254991', 'score': 0.37}, {'connected_gene': 'LINC02547', 'score': 0.37}]
chr11 GH11I012050 12050634 12051922 0.86 [{'connected_gene': 'DKK3', 'score': 15.43}, {'connected_gene': 'MICAL2', 'score': 13.65}, {'connected_gene': 'ENSG00000254991', 'score': 0.37}, {'connected_gene': 'LINC02547', 'score': 0.34}]
chr11 GH11I012028 12028037 12029448 0.43 [{'connected_gene': 'DKK3', 'score': 25.49}, {'connected_gene': 'MICALCL', 'score': 10.46}, {'connected_gene': 'LINC02547', 'score': 0.77}]
chr11 GH11I012046 12046001 12048092 1.18 [{'connected_gene': 'DKK3', 'score': 18.11}, {'connected_gene': 'ENSG00000254991', 'score': 0.37}, {'connected_gene': 'LINC02547', 'score': 0.37}]
chr11 GH11I012016 12016860 12018411 1.03 [{'connected_gene': 'DKK3', 'score': 31.23}, {'connected_gene': 'LINC02547', 'score': 0.39}]
chr11 GH11I012041 12041570 12045547 1.63 [{'connected_gene': 'DKK3', 'score': 13.49}, {'connected_gene': 'LINC02547', 'score': 0.39}, {'connected_gene': 'ENSG00000254991', 'score': 0.34}]
chr11 GH11I012053 12053447 12054948 0.64 [{'connected_gene': 'DKK3', 'score': 4.84}, {'connected_gene': 'ENSG00000254991', 'score': 0.39}, {'connected_gene': 'LINC02547', 'score': 0.34}]
chr11 GH11I011995 11995356 11997131 0.58 [{'connected_gene': 'DKK3', 'score': 5.83}, {'connected_gene': 'GC11P011898', 'score': 0.15}]
chr11 GH11I011994 11994698 11994746 0.4 [{'connected_gene': 'DKK3', 'score': 0.37}, {'connected_gene': 'GC11P011898', 'score': 0.15}]
chr11 GH11I012000 12000836 12003740 0.54 [{'connected_gene': 'DKK3', 'score': 8.87}, {'connected_gene': 'GC11P011898', 'score': 0.15}]
chr11 GH11I011997 11997898 11999476 1.09 [{'connected_gene': 'DKK3', 'score': 10.22}, {'connected_gene': 'GC11P011898', 'score': 0.15}]
chr11 GH11I011993 11993443 11994682 1.07 [{'connected_gene': 'DKK3', 'score': 4.94}, {'connected_gene': 'GC11P011898', 'score': 0.15}]
chr11 GH11I011989 11989726 11992146 0.57 [{'connected_gene': 'DKK3', 'score': 0.37}, {'connected_gene': 'GC11P011898', 'score': 0.16}]
chr11 GH11I011984 11984502 11989172 1.14 [{'connected_gene': 'DKK3', 'score': 0.34}, {'connected_gene': 'GC11P011898', 'score': 0.17}]
chr11 GH11I012004 12004302 12009854 2.04 [{'connected_gene': 'DKK3', 'score': 558.49}, {'connected_gene': 'GC11P011898', 'score': 0.14}]
chr11 GH11I011966 11966934 11967103 0.84 [{'connected_gene': 'DKK3', 'score': 0.26}, {'connected_gene': 'GC11P011898', 'score': 0.2}]
chr11 GH11I011992 11992242 11993077 1.13 [{'connected_gene': 'DKK3', 'score': 4.17}, {'connected_gene': 'GC11P011898', 'score': 0.16}]
chr11 GH11I012031 12031635 12032279 0.2 [{'connected_gene': 'LINC02547', 'score': 550.77}, {'connected_gene': 'MICALCL', 'score': 10.82}, {'connected_gene': 'MICAL2', 'score': 10.27}, {'connected_gene': 'DKK3', 'score': 6.27}, {'connected_gene': 'ENSG00000254991', 'score': 0.29}]
chr11 GH11I012029 12029923 12030783 0.57 [{'connected_gene': 'LINC02547', 'score': 550.77}, {'connected_gene': 'DKK3', 'score': 0.34}]
chr11 GH11I012073 12073631 12080941 1.5 [{'connected_gene': 'ENSG00000255400', 'score': 15.14}, {'connected_gene': 'MICALCL', 'score': 13.49}, {'connected_gene': 'MICAL2', 'score': 3.55}, {'connected_gene': 'PARVA', 'score': 1.68}, {'connected_gene': 'DKK3', 'score': 1.48}, {'connected_gene': 'ENSG00000254991', 'score': 0.39}]