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
ENST00000343684 [[28227097, 28228736]] [[28227149, 28228358]]
NM_001007531 [[28227074, 28228736]] [[28227149, 28228358]]
Promoter
Chrom Start End Description
chr6 28227063 28227117 CAGE_peak_1_at_NKAPL_5end
chr6 28227118 28227126 CAGE_peak_2_at_NKAPL_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I028281 28281200 28282601 2 [{'connected_gene': 'PGBD1', 'score': 550.77}, {'connected_gene': 'PIR51235', 'score': 550.77}, {'connected_gene': 'GC06P028283', 'score': 550.77}, {'connected_gene': 'ZKSCAN3', 'score': 38.25}, {'connected_gene': 'ZKSCAN4', 'score': 31.64}, {'connected_gene': 'ZNF603P', 'score': 30.89}, {'connected_gene': 'ZKSCAN8', 'score': 22.73}, {'connected_gene': 'ZSCAN12', 'score': 20.74}, {'connected_gene': 'ZSCAN9', 'score': 12.81}, {'connected_gene': 'NKAPL', 'score': 11.9}, {'connected_gene': 'ZSCAN31', 'score': 11.77}, {'connected_gene': 'ZNF311', 'score': 9.84}, {'connected_gene': 'ZNF192P1', 'score': 6.5}, {'connected_gene': 'ZNF391', 'score': 4.52}, {'connected_gene': 'ENSG00000276302', 'score': 0.39}]
chr6 GH06I028215 28215110 28216591 0.65 [{'connected_gene': 'ZKSCAN3', 'score': 27.51}, {'connected_gene': 'ZKSCAN8', 'score': 26.53}, {'connected_gene': 'ZKSCAN4', 'score': 22.87}, {'connected_gene': 'ZSCAN12', 'score': 19.92}, {'connected_gene': 'ZNF603P', 'score': 15.99}, {'connected_gene': 'NKAPL', 'score': 11.42}, {'connected_gene': 'PGBD1', 'score': 10.92}, {'connected_gene': 'ZSCAN31', 'score': 10.81}, {'connected_gene': 'ZSCAN9', 'score': 10.74}, {'connected_gene': 'ZSCAN16', 'score': 10.49}, {'connected_gene': 'ZNF165', 'score': 9.87}, {'connected_gene': 'ZSCAN26', 'score': 3.8}, {'connected_gene': 'PIR37135', 'score': 0.77}, {'connected_gene': 'TOB2P1', 'score': 0.77}, {'connected_gene': 'TRS-GCT5-1', 'score': 0.77}]
chr6 GH06I028224 28224256 28226401 2.11 [{'connected_gene': 'ZSCAN9', 'score': 570.21}, {'connected_gene': 'ZNF603P', 'score': 56.1}, {'connected_gene': 'ZKSCAN4', 'score': 39.77}, {'connected_gene': 'ZKSCAN3', 'score': 34.5}, {'connected_gene': 'ZKSCAN8', 'score': 22.82}, {'connected_gene': 'ZNF192P1', 'score': 20.74}, {'connected_gene': 'NKAPL', 'score': 15.07}, {'connected_gene': 'ZSCAN12', 'score': 10.84}, {'connected_gene': 'ZSCAN31', 'score': 10.3}, {'connected_gene': 'TRIM27', 'score': 9.75}, {'connected_gene': 'HIST1H4K', 'score': 5.33}, {'connected_gene': 'ZNF391', 'score': 4.52}, {'connected_gene': 'TOB2P1', 'score': 4.08}]
chr6 GH06I028211 28211456 28213612 1.31 [{'connected_gene': 'ZSCAN9', 'score': 574.47}, {'connected_gene': 'GC06P028271', 'score': 550.77}, {'connected_gene': 'TRS-GCT5-1', 'score': 550.77}, {'connected_gene': 'ZKSCAN8', 'score': 64.26}, {'connected_gene': 'ZNF603P', 'score': 63.2}, {'connected_gene': 'ZSCAN12', 'score': 55.38}, {'connected_gene': 'ZKSCAN3', 'score': 50.78}, {'connected_gene': 'PGBD1', 'score': 47.16}, {'connected_gene': 'ZSCAN23', 'score': 46.2}, {'connected_gene': 'ZSCAN31', 'score': 42.15}, {'connected_gene': 'ZKSCAN4', 'score': 30.31}, {'connected_gene': 'ZSCAN26', 'score': 26.98}, {'connected_gene': 'ENSG00000261839', 'score': 25.51}, {'connected_gene': 'NKAPL', 'score': 15.53}, {'connected_gene': 'ZBED9', 'score': 14.14}, {'connected_gene': 'ZNF391', 'score': 13.43}, {'connected_gene': 'TRIM27', 'score': 13.3}, {'connected_gene': 'ENSG00000271755', 'score': 11.65}, {'connected_gene': 'ZNF192P1', 'score': 11.36}, {'connected_gene': 'ZNF204P', 'score': 11.07}, {'connected_gene': 'ZSCAN16', 'score': 10.5}, {'connected_gene': 'ZNF165', 'score': 9.87}, {'connected_gene': 'ZNF192P2', 'score': 0.34}]
chr6 GH06I028141 28141200 28143373 2.31 [{'connected_gene': 'ZKSCAN8', 'score': 573.05}, {'connected_gene': 'ZNF603P', 'score': 71.43}, {'connected_gene': 'ZKSCAN3', 'score': 46.35}, {'connected_gene': 'ZKSCAN4', 'score': 39.54}, {'connected_gene': 'ZSCAN12', 'score': 30.57}, {'connected_gene': 'ZNF391', 'score': 21.46}, {'connected_gene': 'ZSCAN23', 'score': 18.33}, {'connected_gene': 'ZSCAN9', 'score': 12.8}, {'connected_gene': 'ZNF204P', 'score': 12.55}, {'connected_gene': 'ZNF184', 'score': 11.19}, {'connected_gene': 'PGBD1', 'score': 10.86}, {'connected_gene': 'ENSG00000261839', 'score': 10.78}, {'connected_gene': 'NKAPL', 'score': 10.63}, {'connected_gene': 'ZSCAN31', 'score': 10.23}, {'connected_gene': 'OR2B7P', 'score': 9.9}, {'connected_gene': 'ZNF311', 'score': 9.84}, {'connected_gene': 'TRIM27', 'score': 9.75}, {'connected_gene': 'ZNF192P1', 'score': 9.04}, {'connected_gene': 'ZSCAN16-AS1', 'score': 0.77}, {'connected_gene': 'PIR54837', 'score': 0.39}]
chr6 GH06I028161 28161201 28162211 1.47 [{'connected_gene': 'ZNF192P1', 'score': 550.77}, {'connected_gene': 'ZNF603P', 'score': 71.85}, {'connected_gene': 'ZNF602P', 'score': 28.44}, {'connected_gene': 'ZSCAN16', 'score': 10.71}, {'connected_gene': 'ZKSCAN4', 'score': 10.22}, {'connected_gene': 'NKAPL', 'score': 10.22}, {'connected_gene': 'ZSCAN12', 'score': 10.06}, {'connected_gene': 'ZKSCAN3', 'score': 9.84}, {'connected_gene': 'ZSCAN31', 'score': 9.84}, {'connected_gene': 'ZNF165', 'score': 9.79}, {'connected_gene': 'OR2B7P', 'score': 8.76}, {'connected_gene': 'GC06P028276', 'score': 0.77}, {'connected_gene': 'GC06P028273', 'score': 0.77}]
chr6 GH06I028207 28207314 28208248 0.8 [{'connected_gene': 'ZNF603P', 'score': 67.01}, {'connected_gene': 'ZKSCAN3', 'score': 21.68}, {'connected_gene': 'ZSCAN31', 'score': 10.54}, {'connected_gene': 'ZNF165', 'score': 10.19}, {'connected_gene': 'ZKSCAN4', 'score': 10.12}, {'connected_gene': 'NKAPL', 'score': 10.12}, {'connected_gene': 'ZNF311', 'score': 9.83}, {'connected_gene': 'ZSCAN9', 'score': 0.77}, {'connected_gene': 'ZNF192P2', 'score': 0.37}]
chr6 GH06I028221 28221522 28222832 0.77 [{'connected_gene': 'ZNF603P', 'score': 20.83}, {'connected_gene': 'ZKSCAN4', 'score': 11.14}, {'connected_gene': 'NKAPL', 'score': 11.14}, {'connected_gene': 'ZKSCAN8', 'score': 11.09}, {'connected_gene': 'ZKSCAN3', 'score': 10.98}, {'connected_gene': 'ZSCAN31', 'score': 10.97}, {'connected_gene': 'ZSCAN12', 'score': 10.54}, {'connected_gene': 'TOB2P1', 'score': 0.77}, {'connected_gene': 'ZSCAN9', 'score': 0.44}]
chr6 GH06I028341 28341118 28342153 0.2 [{'connected_gene': 'ZNF603P', 'score': 21.56}, {'connected_gene': 'ZSCAN23', 'score': 16.57}, {'connected_gene': 'ZSCAN31', 'score': 14.24}, {'connected_gene': 'ZKSCAN4', 'score': 10.55}, {'connected_gene': 'NKAPL', 'score': 10.55}, {'connected_gene': 'ZSCAN16', 'score': 10.22}, {'connected_gene': 'TRIM27', 'score': 4.2}, {'connected_gene': 'ZKSCAN3', 'score': 0.44}, {'connected_gene': 'ENSG00000270326', 'score': 0.34}]
chr6 GH06I028382 28382453 28384345 1.24 [{'connected_gene': 'ZKSCAN4', 'score': 30.42}, {'connected_gene': 'ZKSCAN3', 'score': 28.92}, {'connected_gene': 'ZNF603P', 'score': 25.44}, {'connected_gene': 'ZSCAN31', 'score': 17.46}, {'connected_gene': 'ZSCAN9', 'score': 12.7}, {'connected_gene': 'ZKSCAN8', 'score': 11.83}, {'connected_gene': 'ZSCAN12', 'score': 11.11}, {'connected_gene': 'NKAPL', 'score': 10.68}, {'connected_gene': 'ZSCAN16', 'score': 10.18}, {'connected_gene': 'ZNF165', 'score': 9.27}]
chr6 GH06I028333 28333007 28333886 0.97 [{'connected_gene': 'ZKSCAN4', 'score': 30.62}, {'connected_gene': 'ZKSCAN8', 'score': 22.47}, {'connected_gene': 'ZNF603P', 'score': 19.03}, {'connected_gene': 'ZKSCAN3', 'score': 14.89}, {'connected_gene': 'ZSCAN9', 'score': 12.73}, {'connected_gene': 'OR2B8P', 'score': 12.41}, {'connected_gene': 'ZSCAN12', 'score': 10.95}, {'connected_gene': 'NKAPL', 'score': 10.88}, {'connected_gene': 'OR2B7P', 'score': 5.09}, {'connected_gene': 'ENSG00000270326', 'score': 0.39}, {'connected_gene': 'ZSCAN31', 'score': 0.34}]
chr6 GH06I028258 28258800 28259689 1.56 [{'connected_gene': 'ZKSCAN4', 'score': 550.77}, {'connected_gene': 'NKAPL', 'score': 550.77}, {'connected_gene': 'ZNF603P', 'score': 51.02}, {'connected_gene': 'ZNF192P1', 'score': 11.42}, {'connected_gene': 'ZSCAN31', 'score': 10.37}, {'connected_gene': 'LOC102724889', 'score': 8.8}, {'connected_gene': 'ZNF391', 'score': 4.52}, {'connected_gene': 'TOB2P1', 'score': 0.26}]
chr6 GH06I028334 28334294 28338308 2.31 [{'connected_gene': 'ZSCAN31', 'score': 564.21}, {'connected_gene': 'ZKSCAN4', 'score': 21.9}, {'connected_gene': 'ZNF603P', 'score': 21.53}, {'connected_gene': 'ZSCAN23', 'score': 16.57}, {'connected_gene': 'ZKSCAN3', 'score': 11.85}, {'connected_gene': 'NKAPL', 'score': 10.87}, {'connected_gene': 'ZKSCAN8', 'score': 10.71}, {'connected_gene': 'TRIM27', 'score': 9.76}, {'connected_gene': 'OR2B7P', 'score': 5.09}, {'connected_gene': 'ZNF391', 'score': 3.75}, {'connected_gene': 'ENSG00000270326', 'score': 0.37}]
chr6 GH06I028220 28220286 28221102 1.09 [{'connected_gene': 'TOB2P1', 'score': 550.77}, {'connected_gene': 'ZKSCAN4', 'score': 22.46}, {'connected_gene': 'ZKSCAN3', 'score': 22.28}, {'connected_gene': 'ZNF603P', 'score': 20.85}, {'connected_gene': 'NKAPL', 'score': 11.43}, {'connected_gene': 'ZKSCAN8', 'score': 11.4}, {'connected_gene': 'PGBD1', 'score': 10.92}, {'connected_gene': 'ZSCAN31', 'score': 10.81}, {'connected_gene': 'ZSCAN12', 'score': 10.54}, {'connected_gene': 'ZSCAN16', 'score': 10.49}, {'connected_gene': 'ZNF165', 'score': 9.87}, {'connected_gene': 'TRIM27', 'score': 9.75}, {'connected_gene': 'ZSCAN9', 'score': 1.85}]
chr6 GH06I028312 28312896 28313168 0.24 [{'connected_gene': 'NKAPL', 'score': 22.01}, {'connected_gene': 'ZKSCAN4', 'score': 11.08}, {'connected_gene': 'ZKSCAN3', 'score': 10.75}, {'connected_gene': 'ZSCAN31', 'score': 10.73}, {'connected_gene': 'ENSG00000273712', 'score': 0.77}, {'connected_gene': 'PIR61401', 'score': 0.39}, {'connected_gene': 'GC06M028301', 'score': 0.39}]
chr6 GH06I028217 28217891 28219823 1.47 [{'connected_gene': 'PIR37135', 'score': 550.77}, {'connected_gene': 'GC06M028218', 'score': 550.77}, {'connected_gene': 'GC06M028219', 'score': 550.77}, {'connected_gene': 'PIR47699', 'score': 550.77}, {'connected_gene': 'TOB2P1', 'score': 550.77}, {'connected_gene': 'ZNF603P', 'score': 61.6}, {'connected_gene': 'ZKSCAN4', 'score': 11.42}, {'connected_gene': 'NKAPL', 'score': 11.42}, {'connected_gene': 'ZKSCAN8', 'score': 11.4}, {'connected_gene': 'PGBD1', 'score': 10.92}, {'connected_gene': 'ZSCAN31', 'score': 10.81}, {'connected_gene': 'ZKSCAN3', 'score': 10.81}, {'connected_gene': 'ZSCAN16', 'score': 10.49}, {'connected_gene': 'ZSCAN12', 'score': 9.97}, {'connected_gene': 'ZNF165', 'score': 9.87}, {'connected_gene': 'ZSCAN9', 'score': 0.44}]
chr6 GH06I028635 28635371 28635549 0.72 [{'connected_gene': 'ENSG00000271440', 'score': 550.77}, {'connected_gene': 'TRA-TGC9-1', 'score': 550.77}, {'connected_gene': 'ZSCAN23', 'score': 11.94}, {'connected_gene': 'GPX6', 'score': 9.95}, {'connected_gene': 'OR2E1P', 'score': 9.76}, {'connected_gene': 'COX11P1', 'score': 9.76}, {'connected_gene': 'ZSCAN26', 'score': 5.07}, {'connected_gene': 'ZBED9', 'score': 2.65}, {'connected_gene': 'NKAPL', 'score': 1.95}, {'connected_gene': 'LOC105374996', 'score': 0.77}, {'connected_gene': 'GC06P028492', 'score': 0.11}]