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
ENST00000545826 [[106067449, 106068136], [106111516, 106111643], [106155053, 106158508], [106163990, 106164084], [106164726, 106164935], [106180775, 106180926], [106182915, 106183005], [106190766, 106190904], [106193720, 106194075], [106196204, 106200973]] [[106155099, 106158508], [106163990, 106164084], [106164726, 106164808]]
ENST00000513237 [[106067449, 106068136], [106111516, 106111643], [106155053, 106158508], [106162495, 106162586], [106163990, 106164084], [106164726, 106164935], [106180775, 106180926], [106182915, 106183005], [106190766, 106190904], [106193720, 106194075], [106196204, 106200973]] [[106111626, 106111643], [106155053, 106158508], [106162495, 106162586], [106163990, 106164084], [106164726, 106164935], [106180775, 106180926], [106182915, 106183005], [106190766, 106190904], [106193720, 106194075], [106196204, 106197676]]
ENST00000540549 [[106067449, 106068136], [106111516, 106111643], [106155053, 106158508], [106162495, 106162586], [106163990, 106164084], [106164726, 106164935], [106180775, 106180926], [106182915, 106183005], [106190766, 106190904], [106193720, 106194075], [106196204, 106200973]] [[106155099, 106158508], [106162495, 106162586], [106163990, 106164084], [106164726, 106164935], [106180775, 106180926], [106182915, 106183005], [106190766, 106190904], [106193720, 106194075], [106196204, 106197676]]
ENST00000265149 [[106067942, 106068136], [106111516, 106111662], [106155053, 106158508], [106163990, 106164084], [106164726, 106164935], [106180775, 106180926], [106182915, 106183005], [106190766, 106190904], [106193720, 106194075], [106196204, 106200960]] [[106155099, 106158508], [106163990, 106164084], [106164726, 106164808]]
ENST00000380013 [[106067942, 106068136], [106111516, 106111662], [106155053, 106158508], [106162495, 106162586], [106163990, 106164084], [106164726, 106164935], [106180775, 106180926], [106182915, 106183005], [106190766, 106190904], [106193720, 106194075], [106196204, 106200960]] [[106155099, 106158508], [106162495, 106162586], [106163990, 106164084], [106164726, 106164935], [106180775, 106180926], [106182915, 106183005], [106190766, 106190904], [106193720, 106194075], [106196204, 106197676]]
ENST00000305737 [[106067031, 106067243], [106111516, 106111662], [106155053, 106163928]] [[106155099, 106158597]]
ENST00000394764 [[106067942, 106068136], [106111516, 106111662], [106155053, 106163928]] [[106155099, 106158597]]
ENST00000504042 [[106068034, 106068136], [106111516, 106111662], [106123496, 106123703]] None
ENST00000413648 [[106068042, 106068136], [106155053, 106158508], [106162495, 106163919]] [[106155099, 106158508], [106162495, 106162590]]
ENST00000505801 [[106068089, 106068136], [106111516, 106111860]] None
ENST00000514870 [[106068613, 106068956], [106111516, 106111662], [106155053, 106155429]] [[106155099, 106155429]]
NM_001127208 [[106067841, 106068136], [106111516, 106111662], [106155053, 106158508], [106162495, 106162586], [106163990, 106164084], [106164726, 106164935], [106180775, 106180926], [106182915, 106183005], [106190766, 106190904], [106193720, 106194075], [106196204, 106200960]] [[106155099, 106158508], [106162495, 106162586], [106163990, 106164084], [106164726, 106164935], [106180775, 106180926], [106182915, 106183005], [106190766, 106190904], [106193720, 106194075], [106196204, 106197676]]
NM_017628 [[106067031, 106067243], [106111516, 106111662], [106155053, 106163928]] [[106155099, 106158597]]
Promoter
Chrom Start End Description
chr4 106066712 106066728 CAGE_peak_8_at_TET2_5end
chr4 106066730 106066754 CAGE_peak_6_at_TET2_5end
chr4 106066776 106066791 CAGE_peak_9_at_TET2_5end
chr4 106067811 106067854 CAGE_peak_2_at_TET2_5end
chr4 106068026 106068084 CAGE_peak_1_at_TET2_5end
chr4 106155658 106155662 CAGE_peak_5_at_TET2_5end
chr4 106156800 106156812 CAGE_peak_17_at_TET2_5end
chr4 106156818 106156830 CAGE_peak_15_at_TET2_5end
chr4 106156933 106156947 CAGE_peak_3_at_TET2_5end
chr4 106157017 106157029 CAGE_peak_7_at_TET2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I105707 105707230 105711253 2.15 [{'connected_gene': 'GSTCD', 'score': 604.06}, {'connected_gene': 'INTS12', 'score': 568.23}, {'connected_gene': 'LOC101929577', 'score': 54.73}, {'connected_gene': 'TBCK', 'score': 44.36}, {'connected_gene': 'EEF1A1P9', 'score': 21.37}, {'connected_gene': 'AIMP1', 'score': 18.47}, {'connected_gene': 'LOC101929529', 'score': 11.76}, {'connected_gene': 'TET2', 'score': 9.93}, {'connected_gene': 'ARHGEF38', 'score': 0.1}]
chr4 GH04I105144 105144338 105149521 2.18 [{'connected_gene': 'TET2', 'score': 560.67}, {'connected_gene': 'EEF1A1P9', 'score': 22.15}, {'connected_gene': 'TET2-AS1', 'score': 11.76}, {'connected_gene': 'ENSG00000250740', 'score': 11.22}, {'connected_gene': 'PPA2', 'score': 7.77}, {'connected_gene': 'RN7SL89P', 'score': 0.11}]
chr4 GH04I105460 105460884 105462190 1.34 [{'connected_gene': 'TET2', 'score': 28.23}, {'connected_gene': 'PPA2', 'score': 6.44}, {'connected_gene': 'RNU6-553P', 'score': 0.23}]
chr4 GH04I105462 105462633 105462831 0.49 [{'connected_gene': 'TET2', 'score': 22.59}, {'connected_gene': 'PPA2', 'score': 0.39}, {'connected_gene': 'RNU6-553P', 'score': 0.22}]
chr4 GH04I105186 105186601 105187200 0.31 [{'connected_gene': 'TET2', 'score': 10.89}, {'connected_gene': 'PPA2', 'score': 8.86}, {'connected_gene': 'RN7SL89P', 'score': 0.14}, {'connected_gene': 'TET2-AS1', 'score': 0.1}]
chr4 GH04I105113 105113401 105114400 0.94 [{'connected_gene': 'TET2', 'score': 53.6}, {'connected_gene': 'RNU6-351P', 'score': 10.3}, {'connected_gene': 'ENSG00000248373', 'score': 10.26}, {'connected_gene': 'PPA2', 'score': 5.03}, {'connected_gene': 'ENSG00000252136', 'score': 0.44}, {'connected_gene': 'ENSG00000251259', 'score': 0.31}]
chr4 GH04I105191 105191401 105192400 1.44 [{'connected_gene': 'TET2', 'score': 23.35}, {'connected_gene': 'RNU6-351P', 'score': 9.76}, {'connected_gene': 'ENSG00000248373', 'score': 9.75}, {'connected_gene': 'RN7SL89P', 'score': 0.15}, {'connected_gene': 'TET2-AS1', 'score': 0.1}]
chr4 GH04I105193 105193201 105193400 0.69 [{'connected_gene': 'TET2', 'score': 11.62}, {'connected_gene': 'RNU6-351P', 'score': 9.76}, {'connected_gene': 'ENSG00000248373', 'score': 9.75}, {'connected_gene': 'RN7SL89P', 'score': 0.15}, {'connected_gene': 'TET2-AS1', 'score': 0.1}]
chr4 GH04I104930 104930485 104931823 0.8 [{'connected_gene': 'TET2', 'score': 10.89}, {'connected_gene': 'ENSG00000248373', 'score': 10.31}, {'connected_gene': 'RNU6-351P', 'score': 10.23}, {'connected_gene': 'GC04P104913', 'score': 0.37}, {'connected_gene': 'ENSG00000248242', 'score': 0.28}]
chr4 GH04I105179 105179301 105180001 1.09 [{'connected_gene': 'TET2', 'score': 0.29}, {'connected_gene': 'RN7SL89P', 'score': 0.14}, {'connected_gene': 'TET2-AS1', 'score': 0.09}]
chr4 GH04I105215 105215516 105216363 0.65 [{'connected_gene': 'TET2', 'score': 0.19}, {'connected_gene': 'RN7SL89P', 'score': 0.18}, {'connected_gene': 'TET2-AS1', 'score': 0.12}]
chr4 GH04I105306 105306326 105306647 1.03 [{'connected_gene': 'TET2', 'score': 11.2}, {'connected_gene': 'RN7SL89P', 'score': 0.39}, {'connected_gene': 'TET2-AS1', 'score': 0.25}]
chr4 GH04I105304 105304894 105305263 0.89 [{'connected_gene': 'TET2', 'score': 9.12}, {'connected_gene': 'RN7SL89P', 'score': 0.39}, {'connected_gene': 'TET2-AS1', 'score': 0.25}]
chr4 GH04I105167 105167226 105168638 0.31 [{'connected_gene': 'TET2', 'score': 0.34}, {'connected_gene': 'RN7SL89P', 'score': 0.13}]
chr4 GH04I105470 105470709 105471131 0.51 [{'connected_gene': 'TET2', 'score': 35.49}, {'connected_gene': 'TET2-AS1', 'score': 10.89}, {'connected_gene': 'PPA2', 'score': 6.44}, {'connected_gene': 'RNU6-553P', 'score': 0.21}]
chr4 GH04I105469 105469784 105470400 0.52 [{'connected_gene': 'TET2', 'score': 24.62}, {'connected_gene': 'TET2-AS1', 'score': 10.89}, {'connected_gene': 'PPA2', 'score': 5.29}, {'connected_gene': 'RNU6-553P', 'score': 0.21}]
chr4 GH04I105149 105149630 105150513 1.09 [{'connected_gene': 'TET2', 'score': 29.44}, {'connected_gene': 'TET2-AS1', 'score': 11.76}, {'connected_gene': 'PPA2', 'score': 8.28}, {'connected_gene': 'RN7SL89P', 'score': 0.11}]
chr4 GH04I105194 105194001 105195689 1.08 [{'connected_gene': 'TET2', 'score': 11.62}, {'connected_gene': 'ENSG00000252136', 'score': 10.06}, {'connected_gene': 'LOC100288146', 'score': 10.05}, {'connected_gene': 'RNU6-351P', 'score': 9.76}, {'connected_gene': 'ENSG00000248373', 'score': 9.75}, {'connected_gene': 'PPA2', 'score': 5.8}, {'connected_gene': 'RN7SL89P', 'score': 0.15}, {'connected_gene': 'TET2-AS1', 'score': 0.1}]
chr4 GH04I105056 105056713 105058910 1.25 [{'connected_gene': 'TET2', 'score': 34.9}, {'connected_gene': 'LOC100288146', 'score': 11.28}, {'connected_gene': 'ENSG00000252136', 'score': 11.28}, {'connected_gene': 'RNU6-351P', 'score': 10.9}, {'connected_gene': 'ENSG00000248373', 'score': 10.82}, {'connected_gene': 'ENSG00000248778', 'score': 4.48}, {'connected_gene': 'PPA2', 'score': 4.35}, {'connected_gene': 'ENSG00000276992', 'score': 0.21}]
chr4 GH04I105059 105059066 105062691 1.38 [{'connected_gene': 'TET2', 'score': 69.44}, {'connected_gene': 'LOC100288146', 'score': 11.91}, {'connected_gene': 'ENSG00000252136', 'score': 11.9}, {'connected_gene': 'RNU6-351P', 'score': 10.97}, {'connected_gene': 'ENSG00000248373', 'score': 10.9}, {'connected_gene': 'ENSG00000276992', 'score': 0.21}]
chr4 GH04I105120 105120746 105120923 0.63 [{'connected_gene': 'TET2', 'score': 11.2}, {'connected_gene': 'ENSG00000252136', 'score': 0.39}, {'connected_gene': 'ENSG00000251259', 'score': 0.37}]
chr4 GH04I105143 105143801 105144000 0.4 [{'connected_gene': 'TET2', 'score': 550.77}, {'connected_gene': 'ENSG00000251259', 'score': 0.77}]
chr4 GH04I105161 105161642 105162960 0.63 [{'connected_gene': 'PPA2', 'score': 8.16}, {'connected_gene': 'TET2', 'score': 0.37}, {'connected_gene': 'RN7SL89P', 'score': 0.12}]
chr4 GH04I105163 105163203 105166400 0.43 [{'connected_gene': 'PPA2', 'score': 8.19}, {'connected_gene': 'TET2', 'score': 0.37}, {'connected_gene': 'RN7SL89P', 'score': 0.13}]
chr4 GH04I104942 104942950 104944416 0.63 [{'connected_gene': 'RNU6-351P', 'score': 10.61}, {'connected_gene': 'ENSG00000248373', 'score': 10.59}, {'connected_gene': 'TET2', 'score': 10.49}, {'connected_gene': 'ENSG00000248242', 'score': 0.34}, {'connected_gene': 'GC04P104913', 'score': 0.31}]
chr4 GH04I105184 105184601 105185000 0.63 [{'connected_gene': 'RNU6-351P', 'score': 9.75}, {'connected_gene': 'ENSG00000248373', 'score': 9.74}, {'connected_gene': 'PPA2', 'score': 4.74}, {'connected_gene': 'TET2', 'score': 0.28}, {'connected_gene': 'RN7SL89P', 'score': 0.14}, {'connected_gene': 'TET2-AS1', 'score': 0.1}]
chr4 GH04I105279 105279976 105281377 0.66 [{'connected_gene': 'RN7SL89P', 'score': 0.39}, {'connected_gene': 'TET2-AS1', 'score': 0.19}, {'connected_gene': 'TET2', 'score': 0.12}]
chr4 GH04I105196 105196001 105197999 0.89 [{'connected_gene': 'TET2-AS1', 'score': 11.33}, {'connected_gene': 'TET2', 'score': 10.97}, {'connected_gene': 'RNU6-351P', 'score': 10.18}, {'connected_gene': 'ENSG00000248373', 'score': 10.17}, {'connected_gene': 'LOC100288146', 'score': 10.05}, {'connected_gene': 'ENSG00000252136', 'score': 10.05}, {'connected_gene': 'RN7SL89P', 'score': 0.15}]
chr4 GH04I105152 105152960 105154269 0.31 [{'connected_gene': 'TET2-AS1', 'score': 11.76}, {'connected_gene': 'PPA2', 'score': 7.56}, {'connected_gene': 'TET2', 'score': 0.44}, {'connected_gene': 'RN7SL89P', 'score': 0.11}]
chr4 GH04I105205 105205717 105208848 0.38 [{'connected_gene': 'TET2-AS1', 'score': 10.7}, {'connected_gene': 'PPA2', 'score': 8.44}, {'connected_gene': 'TET2', 'score': 0.21}, {'connected_gene': 'RN7SL89P', 'score': 0.17}]
chr4 GH04I105154 105154873 105156704 0.31 [{'connected_gene': 'TET2-AS1', 'score': 11.76}, {'connected_gene': 'PPA2', 'score': 8.17}, {'connected_gene': 'TET2', 'score': 0.44}, {'connected_gene': 'RN7SL89P', 'score': 0.12}]
chr4 GH04I105198 105198270 105199796 0.2 [{'connected_gene': 'TET2-AS1', 'score': 11.33}, {'connected_gene': 'PPA2', 'score': 8.86}, {'connected_gene': 'ARHGEF38-IT1', 'score': 4.28}, {'connected_gene': 'TET2', 'score': 0.23}, {'connected_gene': 'RN7SL89P', 'score': 0.16}]
chr4 GH04I105235 105235201 105237326 0.66 [{'connected_gene': 'TET2-AS1', 'score': 10.9}, {'connected_gene': 'RN7SL89P', 'score': 0.22}, {'connected_gene': 'TET2', 'score': 0.16}]
chr4 GH04I105209 105209140 105212641 0.57 [{'connected_gene': 'TET2-AS1', 'score': 10.7}, {'connected_gene': 'ARHGEF38-IT1', 'score': 4.44}, {'connected_gene': 'TET2', 'score': 0.2}, {'connected_gene': 'RN7SL89P', 'score': 0.18}]
chr4 GH04I105220 105220039 105221264 0.38 [{'connected_gene': 'TET2-AS1', 'score': 11.37}, {'connected_gene': 'ARHGEF38-IT1', 'score': 4.44}, {'connected_gene': 'TET2', 'score': 0.19}, {'connected_gene': 'RN7SL89P', 'score': 0.19}]
chr4 GH04I105225 105225011 105227059 0.31 [{'connected_gene': 'TET2-AS1', 'score': 11.38}, {'connected_gene': 'ARHGEF38-IT1', 'score': 4.47}, {'connected_gene': 'RN7SL89P', 'score': 0.2}, {'connected_gene': 'TET2', 'score': 0.18}]
chr4 GH04I105158 105158071 105159359 0.75 [{'connected_gene': 'TET2-AS1', 'score': 11.76}, {'connected_gene': 'LOC100288146', 'score': 10.1}, {'connected_gene': 'ENSG00000252136', 'score': 10.1}, {'connected_gene': 'PPA2', 'score': 4.08}, {'connected_gene': 'TET2', 'score': 0.39}, {'connected_gene': 'RN7SL89P', 'score': 0.12}]
chr4 GH04I105169 105169699 105171318 0.2 [{'connected_gene': 'ARHGEF38-IT1', 'score': 4.44}, {'connected_gene': 'TET2', 'score': 0.34}, {'connected_gene': 'RN7SL89P', 'score': 0.13}]
chr4 GH04I104965 104965751 104968245 0.97 [{'connected_gene': 'ENSG00000248242', 'score': 550.77}, {'connected_gene': 'TET2', 'score': 11.05}, {'connected_gene': 'GSTCD', 'score': 5.0}, {'connected_gene': 'RNU6-351P', 'score': 0.44}, {'connected_gene': 'ENSG00000248373', 'score': 0.22}]
chr4 GH04I105107 105107131 105107364 0.42 [{'connected_gene': 'ENSG00000252136', 'score': 550.77}, {'connected_gene': 'TET2', 'score': 35.5}, {'connected_gene': 'ENSG00000251259', 'score': 0.29}, {'connected_gene': 'ENSG00000248373', 'score': 0.08}]
chr4 GH04I105141 105141004 105141153 0.76 [{'connected_gene': 'ENSG00000251259', 'score': 550.77}, {'connected_gene': 'LOC100288146', 'score': 11.85}, {'connected_gene': 'ENSG00000252136', 'score': 11.85}, {'connected_gene': 'RNU6-351P', 'score': 10.2}, {'connected_gene': 'ENSG00000248373', 'score': 10.17}, {'connected_gene': 'TET2', 'score': 0.77}]

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