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
NM_003514 [[27860476, 27860963]] [[27860534, 27860927]]
Promoter
Chrom Start End Description
chr6 27806140 27806160 CAGE_peak_2_at_HIST1H2AK_5end,CAGE_peak_2_at_HIST1H2AM_5end,CAGE_peak_3_at_HIST1H2AG_5end,CAGE_peak_3_at_HIST1H2AH_5end,CAGE_peak_3_at_HIST1H2AI_5end,CAGE_peak_3_at_HIST1H2AL_5end
chr6 27860929 27860940 CAGE_peak_3_at_HIST1H2AK_5end,CAGE_peak_3_at_HIST1H2AM_5end,CAGE_peak_4_at_HIST1H2AG_5end,CAGE_peak_4_at_HIST1H2AH_5end,CAGE_peak_4_at_HIST1H2AI_5end,CAGE_peak_4_at_HIST1H2AL_5end
chr6 27860956 27860973 CAGE_peak_1_at_HIST1H2AG_5end,CAGE_peak_1_at_HIST1H2AH_5end,CAGE_peak_1_at_HIST1H2AI_5end,CAGE_peak_1_at_HIST1H2AK_5end,CAGE_peak_1_at_HIST1H2AL_5end,CAGE_peak_1_at_HIST1H2AM_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I027834 27834081 27840504 2.83 [{'connected_gene': 'HIST1H2BN', 'score': 564.21}, {'connected_gene': 'HIST1H2AK', 'score': 556.57}, {'connected_gene': 'GC06M027849', 'score': 550.77}, {'connected_gene': 'ZKSCAN3', 'score': 76.38}, {'connected_gene': 'ZKSCAN8', 'score': 62.85}, {'connected_gene': 'ZKSCAN4', 'score': 55.78}, {'connected_gene': 'ZSCAN9', 'score': 54.31}, {'connected_gene': 'ZSCAN12', 'score': 42.96}, {'connected_gene': 'HIST1H3J', 'score': 14.24}, {'connected_gene': 'GUSBP2', 'score': 13.36}, {'connected_gene': 'HIST1H2AI', 'score': 12.04}, {'connected_gene': 'HIST1H4J', 'score': 11.9}, {'connected_gene': 'ZNF603P', 'score': 10.46}, {'connected_gene': 'HIST1H2BO', 'score': 10.36}, {'connected_gene': 'HIST1H2BM', 'score': 10.35}, {'connected_gene': 'ZSCAN26', 'score': 10.33}, {'connected_gene': 'ZNF391', 'score': 10.24}, {'connected_gene': 'HIST1H3H', 'score': 9.89}, {'connected_gene': 'ZNF165', 'score': 9.75}, {'connected_gene': 'HIST1H1B', 'score': 9.24}, {'connected_gene': 'HIST1H2AL', 'score': 9.0}, {'connected_gene': 'HIST1H2AM', 'score': 8.19}, {'connected_gene': 'HIST1H2BL', 'score': 7.85}, {'connected_gene': 'HIST1H2AJ', 'score': 7.72}, {'connected_gene': 'HIST1H3I', 'score': 6.76}, {'connected_gene': 'HIST1H4K', 'score': 6.05}, {'connected_gene': 'HIST1H4L', 'score': 5.58}, {'connected_gene': 'ZSCAN31', 'score': 5.09}, {'connected_gene': 'ZNF204P', 'score': 5.08}, {'connected_gene': 'ZNF602P', 'score': 4.08}, {'connected_gene': 'ZNF184', 'score': 1.58}]
chr6 GH06I027887 27887549 27899412 2.61 [{'connected_gene': 'HIST1H2AM', 'score': 555.44}, {'connected_gene': 'HIST1H2BO', 'score': 554.74}, {'connected_gene': 'HIST1H3J', 'score': 554.68}, {'connected_gene': 'PIR62073', 'score': 550.77}, {'connected_gene': 'PIR50251', 'score': 550.77}, {'connected_gene': 'PIR61297', 'score': 550.77}, {'connected_gene': 'PIR45952', 'score': 550.77}, {'connected_gene': 'GC06M028114', 'score': 550.77}, {'connected_gene': 'ZKSCAN8', 'score': 56.48}, {'connected_gene': 'ZKSCAN3', 'score': 55.13}, {'connected_gene': 'ZKSCAN4', 'score': 51.2}, {'connected_gene': 'ZSCAN9', 'score': 50.51}, {'connected_gene': 'ZNF603P', 'score': 36.86}, {'connected_gene': 'ZSCAN12', 'score': 30.11}, {'connected_gene': 'HIST1H4K', 'score': 17.22}, {'connected_gene': 'HIST1H3H', 'score': 15.11}, {'connected_gene': 'HIST1H2BN', 'score': 15.03}, {'connected_gene': 'HIST1H2BL', 'score': 15.02}, {'connected_gene': 'HIST1H2AK', 'score': 14.36}, {'connected_gene': 'HIST1H2AI', 'score': 13.99}, {'connected_gene': 'ZSCAN26', 'score': 10.34}, {'connected_gene': 'HIST1H4PS1', 'score': 9.88}, {'connected_gene': 'OR2B8P', 'score': 7.22}, {'connected_gene': 'ZNF192P1', 'score': 6.86}, {'connected_gene': 'HIST1H2BM', 'score': 5.39}, {'connected_gene': 'ZNF165', 'score': 4.92}, {'connected_gene': 'HIST1H3I', 'score': 4.56}, {'connected_gene': 'ZNF204P', 'score': 4.56}, {'connected_gene': 'HIST1H1B', 'score': 4.26}, {'connected_gene': 'HIST1H2AL', 'score': 4.14}, {'connected_gene': 'ZNF602P', 'score': 4.09}, {'connected_gene': 'HIST1H2AJ', 'score': 3.99}, {'connected_gene': 'ZNF184', 'score': 3.92}, {'connected_gene': 'HIST1H4L', 'score': 3.71}, {'connected_gene': 'HIST1H4J', 'score': 2.98}, {'connected_gene': 'PGBD1', 'score': 1.53}, {'connected_gene': 'ZSCAN31', 'score': 1.19}, {'connected_gene': 'GC06M028115', 'score': 0.77}, {'connected_gene': 'RNU7-26P', 'score': 0.77}]
chr6 GH06I027805 27805755 27818474 2.75 [{'connected_gene': 'HIST1H2AI', 'score': 553.9}, {'connected_gene': 'HIST1H3H', 'score': 553.8}, {'connected_gene': 'HIST1H2BM', 'score': 553.63}, {'connected_gene': 'HIST1H2AJ', 'score': 553.07}, {'connected_gene': 'HIST1H2BL', 'score': 552.9}, {'connected_gene': 'ZKSCAN3', 'score': 32.68}, {'connected_gene': 'ZKSCAN8', 'score': 32.05}, {'connected_gene': 'ZNF603P', 'score': 28.73}, {'connected_gene': 'ZSCAN9', 'score': 21.66}, {'connected_gene': 'ZKSCAN4', 'score': 20.36}, {'connected_gene': 'ZSCAN12', 'score': 12.57}, {'connected_gene': 'ZSCAN26', 'score': 10.33}, {'connected_gene': 'ZNF192P1', 'score': 5.57}, {'connected_gene': 'HIST1H4K', 'score': 5.43}, {'connected_gene': 'ZNF204P', 'score': 5.33}, {'connected_gene': 'HIST1H2BN', 'score': 4.12}, {'connected_gene': 'ZNF602P', 'score': 4.08}, {'connected_gene': 'ENSG00000270326', 'score': 3.75}, {'connected_gene': 'HIST1H2AM', 'score': 3.25}, {'connected_gene': 'HIST1H4J', 'score': 3.18}, {'connected_gene': 'HIST1H2AK', 'score': 2.84}, {'connected_gene': 'HIST1H1B', 'score': 2.74}, {'connected_gene': 'HIST1H2BO', 'score': 2.51}, {'connected_gene': 'HIST1H2AL', 'score': 2.49}, {'connected_gene': 'HIST1H3I', 'score': 2.2}, {'connected_gene': 'HIST1H3J', 'score': 1.92}, {'connected_gene': 'HIST1H4L', 'score': 1.83}, {'connected_gene': 'ZNF184', 'score': 1.66}, {'connected_gene': 'GC06M027817', 'score': 0.77}, {'connected_gene': 'PIR38267', 'score': 0.77}, {'connected_gene': 'GC06P027818', 'score': 0.77}, {'connected_gene': 'HIST1H4PS1', 'score': 0.44}]
chr6 GH06I027687 27687001 27688962 1.56 [{'connected_gene': 'TRI-AAT2-1', 'score': 550.77}, {'connected_gene': 'ZKSCAN8', 'score': 38.85}, {'connected_gene': 'ZSCAN23', 'score': 34.78}, {'connected_gene': 'ZKSCAN3', 'score': 28.01}, {'connected_gene': 'ZSCAN12', 'score': 25.1}, {'connected_gene': 'LINC00240', 'score': 19.44}, {'connected_gene': 'ZSCAN31', 'score': 19.11}, {'connected_gene': 'ENSG00000261839', 'score': 14.35}, {'connected_gene': 'ZNF603P', 'score': 14.25}, {'connected_gene': 'ZNF391', 'score': 14.12}, {'connected_gene': 'ZBED9', 'score': 14.11}, {'connected_gene': 'ZSCAN9', 'score': 12.22}, {'connected_gene': 'PGBD1', 'score': 10.76}, {'connected_gene': 'RNU6-471P', 'score': 10.7}, {'connected_gene': 'ZKSCAN4', 'score': 10.57}, {'connected_gene': 'ZSCAN26', 'score': 4.32}, {'connected_gene': 'VN1R10P', 'score': 4.02}, {'connected_gene': 'ZNF184', 'score': 2.29}, {'connected_gene': 'HIST1H2AM', 'score': 1.9}, {'connected_gene': 'HIST1H3H', 'score': 1.74}, {'connected_gene': 'HIST1H2BO', 'score': 1.6}, {'connected_gene': 'HIST1H2BN', 'score': 1.26}, {'connected_gene': 'TRT-AGT2-2', 'score': 0.77}]
chr6 GH06I027791 27791126 27794747 1.62 [{'connected_gene': 'PIR59071', 'score': 550.77}, {'connected_gene': 'TRQ-CTG6-1', 'score': 550.77}, {'connected_gene': 'GC06M027793', 'score': 550.77}, {'connected_gene': 'ZKSCAN8', 'score': 43.9}, {'connected_gene': 'ZKSCAN3', 'score': 32.49}, {'connected_gene': 'ZSCAN9', 'score': 20.02}, {'connected_gene': 'ZSCAN12', 'score': 16.96}, {'connected_gene': 'ZNF204P', 'score': 16.05}, {'connected_gene': 'ENSG00000271755', 'score': 12.48}, {'connected_gene': 'ZSCAN23', 'score': 12.28}, {'connected_gene': 'PGBD1', 'score': 11.66}, {'connected_gene': 'ZKSCAN4', 'score': 11.32}, {'connected_gene': 'ZNF391', 'score': 10.48}, {'connected_gene': 'ZNF603P', 'score': 9.61}, {'connected_gene': 'ZSCAN26', 'score': 5.68}, {'connected_gene': 'TOB2P1', 'score': 3.64}, {'connected_gene': 'HIST1H2AM', 'score': 1.93}, {'connected_gene': 'HIST1H3H', 'score': 1.72}, {'connected_gene': 'ZNF184', 'score': 1.5}, {'connected_gene': 'HIST1H2BN', 'score': 1.48}, {'connected_gene': 'TRQ-TTG3-3', 'score': 0.77}]