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
ENST00000377401 [[27775256, 27775709]] [[27775303, 27775684]]
NM_003519 [[27775256, 27775709]] [[27775303, 27775684]]
Promoter
Chrom Start End Description
chr6 27775694 27775714 CAGE_peak_1_at_HIST1H2BL_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I027126 27126529 27149515 2.57 [{'connected_gene': 'HIST1H2AH', 'score': 558.4}, {'connected_gene': 'HIST1H4I', 'score': 550.77}, {'connected_gene': 'GC06P027140', 'score': 550.77}, {'connected_gene': 'HIST1H2AG', 'score': 550.77}, {'connected_gene': 'HIST1H2BK', 'score': 550.44}, {'connected_gene': 'HIST1H2BJ', 'score': 550.44}, {'connected_gene': 'ZKSCAN8', 'score': 115.46}, {'connected_gene': 'ABT1', 'score': 100.36}, {'connected_gene': 'HMGN4', 'score': 77.02}, {'connected_gene': 'BTN2A1', 'score': 52.4}, {'connected_gene': 'BTN2A3P', 'score': 52.02}, {'connected_gene': 'ZNF322', 'score': 48.3}, {'connected_gene': 'BTN2A2', 'score': 46.31}, {'connected_gene': 'ZNF391', 'score': 41.79}, {'connected_gene': 'ENSG00000261839', 'score': 36.18}, {'connected_gene': 'LOC102724851', 'score': 35.7}, {'connected_gene': 'ZNF204P', 'score': 32.01}, {'connected_gene': 'HIST1H4K', 'score': 16.51}, {'connected_gene': 'BTN3A1', 'score': 14.65}, {'connected_gene': 'BTN3A3', 'score': 13.62}, {'connected_gene': 'RNU2-62P', 'score': 12.4}, {'connected_gene': 'GUSBP2', 'score': 12.12}, {'connected_gene': 'BTN3A2', 'score': 12.06}, {'connected_gene': 'ENSG00000271755', 'score': 11.69}, {'connected_gene': 'ZNF184', 'score': 11.22}, {'connected_gene': 'HIST1H3H', 'score': 10.93}, {'connected_gene': 'HIST1H2BL', 'score': 10.93}, {'connected_gene': 'HIST1H1D', 'score': 9.81}, {'connected_gene': 'LINC00240', 'score': 8.65}, {'connected_gene': 'IQCB2P', 'score': 3.89}, {'connected_gene': 'PIR51918', 'score': 0.44}, {'connected_gene': 'MIR3143', 'score': 0.44}, {'connected_gene': 'GC06P027137', 'score': 0.44}, {'connected_gene': 'GC06P027128', 'score': 0.44}, {'connected_gene': 'PIR56362', 'score': 0.44}, {'connected_gene': 'GC06P027135', 'score': 0.44}, {'connected_gene': 'GC06M027146', 'score': 0.44}, {'connected_gene': 'GC06M027132', 'score': 0.44}, {'connected_gene': 'GC06P027150', 'score': 0.44}, {'connected_gene': 'PIR46858', 'score': 0.44}, {'connected_gene': 'LOC105374995', 'score': 0.44}]
chr6 GH06I027154 27154552 27155576 0.49 [{'connected_gene': 'HIST1H3H', 'score': 10.93}, {'connected_gene': 'HIST1H2BL', 'score': 10.93}, {'connected_gene': 'BTN2A2', 'score': 8.72}, {'connected_gene': 'PRSS16', 'score': 3.94}, {'connected_gene': 'GC06P027190', 'score': 0.77}, {'connected_gene': 'GC06P027156', 'score': 0.77}]
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 GH06I027776 27776814 27778471 1.17 [{'connected_gene': 'TRX-CAT2-1', 'score': 550.77}, {'connected_gene': 'GC06P027803', 'score': 550.77}, {'connected_gene': 'PIR58221', 'score': 550.77}, {'connected_gene': 'ZKSCAN8', 'score': 27.89}, {'connected_gene': 'ZSCAN12', 'score': 25.1}, {'connected_gene': 'ZKSCAN3', 'score': 18.94}, {'connected_gene': 'ZNF603P', 'score': 17.38}, {'connected_gene': 'ZSCAN23', 'score': 12.28}, {'connected_gene': 'ZSCAN9', 'score': 12.23}, {'connected_gene': 'HIST1H4PS1', 'score': 11.33}, {'connected_gene': 'HIST1H2AI', 'score': 11.31}, {'connected_gene': 'HIST1H2BL', 'score': 11.31}, {'connected_gene': 'ZKSCAN4', 'score': 10.58}, {'connected_gene': 'RNU6-471P', 'score': 10.01}, {'connected_gene': 'ZSCAN26', 'score': 5.38}, {'connected_gene': 'HIST1H4K', 'score': 4.4}, {'connected_gene': 'OR2B2', 'score': 3.3}, {'connected_gene': 'OR2B6', 'score': 2.47}, {'connected_gene': 'PIR59721', 'score': 0.77}]
chr6 GH06I027756 27756842 27758800 0.92 [{'connected_gene': 'ZNF603P', 'score': 15.56}, {'connected_gene': 'HIST1H2BL', 'score': 11.34}, {'connected_gene': 'HIST1H3H', 'score': 10.76}, {'connected_gene': 'RNU6-471P', 'score': 10.09}, {'connected_gene': 'ZNF391', 'score': 4.41}, {'connected_gene': 'LOC100131289', 'score': 0.77}, {'connected_gene': 'TRV-AAC1-5', 'score': 0.77}]
chr6 GH06I027770 27770842 27770971 0.43 [{'connected_gene': 'ZNF603P', 'score': 15.76}, {'connected_gene': 'HIST1H2BL', 'score': 11.58}, {'connected_gene': 'HIST1H2AI', 'score': 11.58}, {'connected_gene': 'HIST1H4PS1', 'score': 11.58}, {'connected_gene': 'HIST1H3J', 'score': 11.09}, {'connected_gene': 'HIST1H4K', 'score': 9.98}, {'connected_gene': 'PIR59721', 'score': 0.77}, {'connected_gene': 'LOC100131289', 'score': 0.44}]
chr6 GH06I027761 27761401 27761800 0.56 [{'connected_gene': 'LOC100131289', 'score': 550.77}, {'connected_gene': 'HIST1H2BL', 'score': 11.54}, {'connected_gene': 'HIST1H2AI', 'score': 11.54}, {'connected_gene': 'HIST1H4PS1', 'score': 11.54}, {'connected_gene': 'RNU6-471P', 'score': 9.85}, {'connected_gene': 'TRV-AAC1-5', 'score': 0.44}]
chr6 GH06I027762 27762335 27762895 0.43 [{'connected_gene': 'LOC100131289', 'score': 550.77}, {'connected_gene': 'ZNF603P', 'score': 16.16}, {'connected_gene': 'HIST1H4PS1', 'score': 11.55}, {'connected_gene': 'HIST1H2BL', 'score': 11.54}, {'connected_gene': 'HIST1H2AI', 'score': 11.54}, {'connected_gene': 'RNU6-471P', 'score': 9.85}, {'connected_gene': 'PIR59721', 'score': 0.39}]
chr6 GH06I027151 27150542 27150691 0.57 [{'connected_gene': 'GC06P027155', 'score': 550.77}, {'connected_gene': 'GC06P027152', 'score': 550.77}, {'connected_gene': 'TRV-CAC9-1', 'score': 550.77}, {'connected_gene': 'GC06P027156', 'score': 550.77}, {'connected_gene': 'HIST1H2BL', 'score': 10.93}, {'connected_gene': 'HIST1H3H', 'score': 10.93}]
chr6 GH06I027150 27150202 27150391 0.69 [{'connected_gene': 'GC06P027155', 'score': 550.77}, {'connected_gene': 'GC06P027152', 'score': 550.77}, {'connected_gene': 'TRV-CAC9-1', 'score': 550.77}, {'connected_gene': 'ZNF322', 'score': 12.87}, {'connected_gene': 'ZKSCAN8', 'score': 12.29}, {'connected_gene': 'HIST1H2BL', 'score': 10.93}, {'connected_gene': 'HIST1H3H', 'score': 10.93}]
chr6 GH06I027157 27157001 27158671 1.26 [{'connected_gene': 'GC06P027190', 'score': 550.77}, {'connected_gene': 'TRH-GTG1-5', 'score': 550.77}, {'connected_gene': 'ABT1', 'score': 34.43}, {'connected_gene': 'ZKSCAN8', 'score': 22.3}, {'connected_gene': 'BTN2A3P', 'score': 21.14}, {'connected_gene': 'BTN3A2', 'score': 20.46}, {'connected_gene': 'HMGN4', 'score': 18.71}, {'connected_gene': 'BTN2A2', 'score': 18.42}, {'connected_gene': 'ZNF322', 'score': 12.87}, {'connected_gene': 'HIST1H4PS1', 'score': 12.11}, {'connected_gene': 'HIST1H2AI', 'score': 12.11}, {'connected_gene': 'HIST1H2BL', 'score': 12.11}, {'connected_gene': 'LOC102724851', 'score': 12.03}, {'connected_gene': 'BTN2A1', 'score': 10.25}, {'connected_gene': 'HIST1H1D', 'score': 10.1}, {'connected_gene': 'GUSBP2', 'score': 9.95}, {'connected_gene': 'HIST1H4L', 'score': 9.62}, {'connected_gene': 'LINC00240', 'score': 4.47}, {'connected_gene': 'GC06P027156', 'score': 0.44}]

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