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
ENST00000344941 [[16341418, 16342749], [16347278, 16347387], [16369826, 16369958], [16377347, 16377536], [16392614, 16392801], [16397513, 16397734], [16410634, 16410804], [16425494, 16425717], [16430258, 16430619]] [[16342601, 16342749], [16347278, 16347387], [16369826, 16369958], [16377347, 16377536], [16392614, 16392801], [16397513, 16397734], [16410634, 16410804], [16425494, 16425717], [16430258, 16430619]]
NM_001170798 [[16341418, 16342749], [16347278, 16347387], [16369826, 16369958], [16377347, 16377536], [16392614, 16392801], [16397513, 16397734], [16410634, 16410804], [16425494, 16425717], [16430258, 16430619]] [[16342601, 16342749], [16347278, 16347387], [16369826, 16369958], [16377347, 16377536], [16392614, 16392801], [16397513, 16397734], [16410634, 16410804], [16425494, 16425717], [16430258, 16430619]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I016353 16353801 16354600 0.51 [{'connected_gene': 'SLC15A5', 'score': 10.62}, {'connected_gene': 'MGST1', 'score': 0.44}, {'connected_gene': 'GC12P016380', 'score': 0.31}]
chr12 GH12I016282 16282167 16282232 0.2 [{'connected_gene': 'SLC15A5', 'score': 0.77}, {'connected_gene': 'LOC101928362', 'score': 0.39}, {'connected_gene': 'PIR41579', 'score': 0.29}]
chr12 GH12I016277 16277707 16277766 0.5 [{'connected_gene': 'SLC15A5', 'score': 550.77}, {'connected_gene': 'LOC101928362', 'score': 0.44}, {'connected_gene': 'PIR41579', 'score': 0.28}]
chr12 GH12I016299 16299547 16301050 0.31 [{'connected_gene': 'MGST1', 'score': 4.86}, {'connected_gene': 'PIR41579', 'score': 0.39}, {'connected_gene': 'SLC15A5', 'score': 0.34}, {'connected_gene': 'LOC101928362', 'score': 0.29}]
chr12 GH12I016280 16280727 16282028 0.6 [{'connected_gene': 'MGST1', 'score': 5.67}, {'connected_gene': 'SLC15A5', 'score': 0.77}, {'connected_gene': 'LOC101928362', 'score': 0.39}, {'connected_gene': 'PIR41579', 'score': 0.29}]
chr12 GH12I016176 16176006 16176336 0.22 [{'connected_gene': 'MGST1', 'score': 5.08}, {'connected_gene': 'SLC15A5', 'score': 1.45}, {'connected_gene': 'GC12M016137', 'score': 0.39}, {'connected_gene': 'GC12P016202', 'score': 0.31}]
chr12 GH12I016346 16346646 16353575 2.16 [{'connected_gene': 'MGST1', 'score': 574.19}, {'connected_gene': 'SLC15A5', 'score': 15.59}, {'connected_gene': 'GC12P016380', 'score': 0.29}]
chr12 GH12I016244 16244907 16245946 0.38 [{'connected_gene': 'PIR42572', 'score': 0.77}, {'connected_gene': 'GC12P016252', 'score': 0.44}, {'connected_gene': 'SLC15A5', 'score': 0.29}]