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_003527 [[27861202, 27861669]] [[27861240, 27861621]]
Promoter
Chrom Start End Description
chr6 27861190 27861217 CAGE_peak_1_at_HIST1H2BO_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 GH06I027821 27821592 27826218 2.01 [{'connected_gene': 'GC06P027825', 'score': 550.77}, {'connected_gene': 'HIST1H4J', 'score': 550.77}, {'connected_gene': 'ZKSCAN4', 'score': 14.54}, {'connected_gene': 'ZKSCAN8', 'score': 13.61}, {'connected_gene': 'ZKSCAN3', 'score': 12.99}, {'connected_gene': 'ZSCAN9', 'score': 11.86}, {'connected_gene': 'HIST1H3J', 'score': 11.7}, {'connected_gene': 'HIST1H1B', 'score': 11.44}, {'connected_gene': 'HIST1H2BO', 'score': 11.21}, {'connected_gene': 'HIST1H3I', 'score': 10.85}, {'connected_gene': 'HIST1H4L', 'score': 10.73}, {'connected_gene': 'ZNF603P', 'score': 10.1}, {'connected_gene': 'ZSCAN16-AS1', 'score': 5.44}, {'connected_gene': 'ZNF192P1', 'score': 4.7}, {'connected_gene': 'TOB2P1', 'score': 3.67}, {'connected_gene': 'HIST1H2BM', 'score': 0.44}]