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_152914 [[21142182, 21146742], [21147418, 21147537], [21156471, 21156530], [21156532, 21156578]] [[21146625, 21146742], [21147418, 21147537], [21156471, 21156530], [21156532, 21156576]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I021245 21245343 21246214 0.63 [{'connected_gene': 'TMEM11', 'score': 13.13}, {'connected_gene': 'ENSG00000235530', 'score': 13.13}, {'connected_gene': 'DHRS7B', 'score': 11.4}, {'connected_gene': 'OLA1P2', 'score': 4.4}, {'connected_gene': 'PIR52097', 'score': 0.77}, {'connected_gene': 'NATD1', 'score': 0.44}]
chr17 GH17I021208 21208955 21216520 2.45 [{'connected_gene': 'TMEM11', 'score': 561.4}, {'connected_gene': 'ENSG00000235530', 'score': 556.52}, {'connected_gene': 'DHRS7B', 'score': 18.83}, {'connected_gene': 'FAM106B', 'score': 5.45}, {'connected_gene': 'NATD1', 'score': 5.17}, {'connected_gene': 'GC17M021160', 'score': 0.23}]
chr17 GH17I021250 21250608 21251843 0.58 [{'connected_gene': 'TMEM11', 'score': 12.73}, {'connected_gene': 'ENSG00000235530', 'score': 12.73}, {'connected_gene': 'NATD1', 'score': 7.09}, {'connected_gene': 'PIR52097', 'score': 0.44}]
chr17 GH17I021131 21131227 21131500 0.77 [{'connected_gene': 'TMEM11', 'score': 11.81}, {'connected_gene': 'ENSG00000235530', 'score': 11.81}, {'connected_gene': 'USP22', 'score': 11.1}, {'connected_gene': 'NATD1', 'score': 4.38}, {'connected_gene': 'MAP2K3', 'score': 3.6}, {'connected_gene': 'DHRS7B', 'score': 0.44}, {'connected_gene': 'GC17M021160', 'score': 0.29}]
chr17 GH17I021257 21257001 21257400 1.04 [{'connected_gene': 'MAP2K3', 'score': 12.55}, {'connected_gene': 'TMEM11', 'score': 12.33}, {'connected_gene': 'ENSG00000235530', 'score': 12.33}, {'connected_gene': 'DHRS7B', 'score': 11.29}, {'connected_gene': 'NATD1', 'score': 0.77}, {'connected_gene': 'EIF1P5', 'score': 0.77}]
chr17 GH17I021281 21281583 21290737 2.65 [{'connected_gene': 'MAP2K3', 'score': 569.75}, {'connected_gene': 'GC17P024329', 'score': 550.77}, {'connected_gene': 'KCNJ12', 'score': 14.8}, {'connected_gene': 'DHRS7B', 'score': 11.38}, {'connected_gene': 'NATD1', 'score': 4.56}]
chr17 GH17I021267 21267225 21269236 1.03 [{'connected_gene': 'KCNJ12', 'score': 9.72}, {'connected_gene': 'NATD1', 'score': 4.76}, {'connected_gene': 'PIR52124', 'score': 0.77}, {'connected_gene': 'EIF1P5', 'score': 0.44}]
chr17 GH17I021126 21125712 21128478 2.46 [{'connected_gene': 'DHRS7B', 'score': 557.64}, {'connected_gene': 'TMEM11', 'score': 9.14}, {'connected_gene': 'MAP2K3', 'score': 5.41}, {'connected_gene': 'KCNJ18', 'score': 3.07}, {'connected_gene': 'NATD1', 'score': 1.4}, {'connected_gene': 'GC17M021160', 'score': 0.29}]
chr17 GH17I021252 21252400 21254285 2.08 [{'connected_gene': 'NATD1', 'score': 560.22}, {'connected_gene': 'ENSG00000235530', 'score': 22.65}, {'connected_gene': 'TMEM11', 'score': 12.73}, {'connected_gene': 'PIR52097', 'score': 0.39}]
chr17 GH17I021279 21279802 21280650 1.3 [{'connected_gene': 'NATD1', 'score': 4.47}, {'connected_gene': 'MAP2K3', 'score': 0.77}, {'connected_gene': 'PIR52124', 'score': 0.44}]
chr17 GH17I021260 21260601 21260800 0.4 [{'connected_gene': 'EIF1P5', 'score': 550.77}, {'connected_gene': 'MAP2K3', 'score': 11.9}, {'connected_gene': 'TMEM11', 'score': 11.72}, {'connected_gene': 'ENSG00000235530', 'score': 11.72}, {'connected_gene': 'DHRS7B', 'score': 11.54}, {'connected_gene': 'NATD1', 'score': 8.31}, {'connected_gene': 'PIR52124', 'score': 0.39}]
chr17 GH17I021239 21239808 21240203 0.59 [{'connected_gene': 'PIR36411', 'score': 550.77}, {'connected_gene': 'TMEM11', 'score': 13.15}, {'connected_gene': 'ENSG00000235530', 'score': 13.15}, {'connected_gene': 'DHRS7B', 'score': 11.4}, {'connected_gene': 'NATD1', 'score': 0.39}, {'connected_gene': 'RN7SL426P', 'score': 0.39}, {'connected_gene': 'GC17M021230', 'score': 0.39}]
chr17 GH17I021243 21240408 21240497 0.31 [{'connected_gene': 'PIR36411', 'score': 550.77}, {'connected_gene': 'PIR52097', 'score': 550.77}, {'connected_gene': 'TMEM11', 'score': 13.15}, {'connected_gene': 'ENSG00000235530', 'score': 13.15}, {'connected_gene': 'DHRS7B', 'score': 11.4}, {'connected_gene': 'NATD1', 'score': 0.39}, {'connected_gene': 'RN7SL426P', 'score': 0.39}, {'connected_gene': 'GC17M021230', 'score': 0.39}]
chr17 GH17I021240 21240348 21240389 0.31 [{'connected_gene': 'PIR36411', 'score': 550.77}, {'connected_gene': 'PIR52097', 'score': 550.77}, {'connected_gene': 'TMEM11', 'score': 13.15}, {'connected_gene': 'ENSG00000235530', 'score': 13.15}, {'connected_gene': 'DHRS7B', 'score': 11.4}, {'connected_gene': 'NATD1', 'score': 0.39}, {'connected_gene': 'RN7SL426P', 'score': 0.39}, {'connected_gene': 'GC17M021230', 'score': 0.39}]
chr17 GH17I021241 21241823 21242344 0.63 [{'connected_gene': 'PIR52097', 'score': 550.77}, {'connected_gene': 'PIR36411', 'score': 550.77}, {'connected_gene': 'TMEM11', 'score': 13.15}, {'connected_gene': 'ENSG00000235530', 'score': 13.15}, {'connected_gene': 'DHRS7B', 'score': 11.4}, {'connected_gene': 'NATD1', 'score': 0.39}]
chr17 GH17I021242 21242640 21244218 0.63 [{'connected_gene': 'PIR52097', 'score': 550.77}, {'connected_gene': 'TMEM11', 'score': 13.15}, {'connected_gene': 'ENSG00000235530', 'score': 13.15}, {'connected_gene': 'DHRS7B', 'score': 11.4}, {'connected_gene': 'OLA1P2', 'score': 4.1}, {'connected_gene': 'NATD1', 'score': 0.44}]
chr17 GH17I021274 21274941 21276800 1.67 [{'connected_gene': 'ENSG00000235530', 'score': 11.0}, {'connected_gene': 'KCNJ12', 'score': 10.35}, {'connected_gene': 'NATD1', 'score': 5.72}, {'connected_gene': 'MAP2K3', 'score': 2.71}, {'connected_gene': 'CCDC144NL', 'score': 1.93}, {'connected_gene': 'PIR52124', 'score': 0.77}]
chr17 GH17I021275 21273007 21273302 1.11 [{'connected_gene': 'PIR52124', 'score': 550.77}, {'connected_gene': 'NATD1', 'score': 8.07}, {'connected_gene': 'MAP2K3', 'score': 0.39}]