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
ENST00000274276 [[38846100, 38846489], [38869133, 38869219], [38876302, 38876475], [38881694, 38881866], [38883928, 38884213], [38885450, 38885586], [38886140, 38886292], [38903983, 38904126], [38904454, 38904605], [38917647, 38917724], [38918941, 38919164], [38921716, 38921896], [38923251, 38923356], [38924523, 38924697], [38925305, 38925473], [38931984, 38932066], [38932564, 38932637], [38932973, 38935743]] [[38869146, 38869219], [38876302, 38876475], [38881694, 38881866], [38883928, 38884213], [38885450, 38885586], [38886140, 38886292], [38903983, 38904126], [38904454, 38904605], [38917647, 38917724], [38918941, 38919164], [38921716, 38921896], [38923251, 38923356], [38924523, 38924697], [38925305, 38925473], [38931984, 38932066], [38932564, 38932637], [38932973, 38933546]]
ENST00000502536 [[38845959, 38846228], [38869133, 38869219], [38876302, 38876475], [38881694, 38881866], [38883928, 38884213], [38885450, 38885586], [38886140, 38886759]] [[38869146, 38869219], [38876302, 38876475], [38881694, 38881866], [38883928, 38884213], [38885450, 38885586], [38886140, 38886330]]
ENST00000513831 [[38904499, 38904605], [38917647, 38917724], [38918941, 38919164], [38919308, 38919668]] [[38904499, 38904605], [38917647, 38917724], [38918941, 38919164], [38919308, 38919469]]
ENST00000509237 [[38931984, 38932066], [38932564, 38932637], [38944302, 38944421], [38945319, 38945698]] [[38931984, 38932066], [38932564, 38932637], [38944302, 38944335]]
ENST00000508882 [[38932563, 38932637], [38944302, 38944421], [38945047, 38945215]] [[38932563, 38932637], [38944302, 38944335]]
NM_001323505 [[38845959, 38846228], [38869133, 38869219], [38876302, 38876475], [38881694, 38881866], [38883928, 38884213], [38885450, 38885586], [38886140, 38886292], [38903983, 38904126], [38904454, 38904605], [38917647, 38917724], [38918941, 38919164], [38921716, 38921896], [38923251, 38923356], [38924523, 38924697], [38925305, 38925473], [38931984, 38932066], [38932564, 38932637], [38932973, 38935743]] [[38869146, 38869219], [38876302, 38876475], [38881694, 38881866], [38883928, 38884213], [38885450, 38885586], [38886140, 38886292], [38903983, 38904126], [38904454, 38904605], [38917647, 38917724], [38918941, 38919164], [38921716, 38921896], [38923251, 38923356], [38924523, 38924697], [38925305, 38925473], [38931984, 38932066], [38932564, 38932637], [38932973, 38933546]]
NM_001323506 [[38845959, 38846228], [38869133, 38869219], [38876302, 38876475], [38881694, 38881866], [38883928, 38884213], [38885450, 38885586], [38886140, 38886292], [38903983, 38904126], [38904451, 38904605], [38917647, 38917724], [38918941, 38919164], [38921716, 38921896], [38923251, 38923356], [38924523, 38924697], [38925305, 38925473], [38931984, 38932066], [38932564, 38932637], [38932973, 38935743]] [[38869146, 38869219], [38876302, 38876475], [38881694, 38881866], [38883928, 38884213], [38885450, 38885586], [38886140, 38886292], [38903983, 38904126], [38904451, 38904605], [38917647, 38917724], [38918941, 38919164], [38921716, 38921896], [38923251, 38923356], [38924523, 38924697], [38925305, 38925473], [38931984, 38932066], [38932564, 38932637], [38932973, 38933546]]
NM_003999 [[38846100, 38846489], [38869133, 38869219], [38876302, 38876475], [38881694, 38881866], [38883928, 38884213], [38885450, 38885586], [38886140, 38886292], [38903983, 38904126], [38904454, 38904605], [38917647, 38917724], [38918941, 38919164], [38921716, 38921896], [38923251, 38923356], [38924523, 38924697], [38925305, 38925473], [38931984, 38932066], [38932564, 38932637], [38932973, 38935743]] [[38869146, 38869219], [38876302, 38876475], [38881694, 38881866], [38883928, 38884213], [38885450, 38885586], [38886140, 38886292], [38903983, 38904126], [38904454, 38904605], [38917647, 38917724], [38918941, 38919164], [38921716, 38921896], [38923251, 38923356], [38924523, 38924697], [38925305, 38925473], [38931984, 38932066], [38932564, 38932637], [38932973, 38933546]]
NM_001168355 [[38845959, 38846228], [38869133, 38869219], [38876302, 38876475], [38881694, 38881866], [38883928, 38884213], [38885450, 38885586], [38886140, 38886841]] [[38869146, 38869219], [38876302, 38876475], [38881694, 38881866], [38883928, 38884213], [38885450, 38885586], [38886140, 38886330]]
NM_001323507 [[38845959, 38846228], [38869133, 38869219], [38876302, 38876475], [38881694, 38881866], [38883928, 38884213], [38885450, 38885586], [38886140, 38886292], [38903983, 38904126], [38904454, 38904605], [38917647, 38917724], [38918941, 38919164], [38919308, 38919659]] [[38869146, 38869219], [38876302, 38876475], [38881694, 38881866], [38883928, 38884213], [38885450, 38885586], [38886140, 38886292], [38903983, 38904126], [38904454, 38904605], [38917647, 38917724], [38918941, 38919164], [38919308, 38919469]]
NM_001323504 [[38846100, 38846489], [38869133, 38869219], [38876302, 38876475], [38881694, 38881866], [38883928, 38884213], [38885450, 38885586], [38886140, 38886841]] [[38869146, 38869219], [38876302, 38876475], [38881694, 38881866], [38883928, 38884213], [38885450, 38885586], [38886140, 38886330]]
Promoter
Chrom Start End Description
chr5 38846076 38846089 CAGE_peak_2_at_OSMR_5end
chr5 38846106 38846174 CAGE_peak_1_at_OSMR_5end
chr5 38846175 38846184 CAGE_peak_3_at_OSMR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I039057 39057601 39058600 0.66 [{'connected_gene': 'OSMR', 'score': 5.69}, {'connected_gene': 'RICTOR', 'score': 0.37}, {'connected_gene': 'AIG1P1', 'score': 0.28}]
chr5 GH05I039062 39062484 39063136 0.49 [{'connected_gene': 'OSMR', 'score': 7.47}, {'connected_gene': 'RICTOR', 'score': 6.18}, {'connected_gene': 'AIG1P1', 'score': 0.26}]
chr5 GH05I038870 38870054 38874669 1.26 [{'connected_gene': 'OSMR', 'score': 11.67}, {'connected_gene': 'OSMR-AS1', 'score': 11.67}, {'connected_gene': 'LINC01265', 'score': 11.67}, {'connected_gene': 'GC05M038934', 'score': 0.2}]
chr5 GH05I038843 38843601 38848408 2.67 [{'connected_gene': 'OSMR', 'score': 556.72}, {'connected_gene': 'OSMR-AS1', 'score': 550.77}, {'connected_gene': 'LINC01265', 'score': 550.77}, {'connected_gene': 'GC05M038934', 'score': 0.16}]
chr5 GH05I038853 38853235 38855514 1.36 [{'connected_gene': 'OSMR', 'score': 2.92}, {'connected_gene': 'GC05M038934', 'score': 0.18}]
chr5 GH05I038866 38866742 38867004 0.26 [{'connected_gene': 'OSMR', 'score': 0.34}, {'connected_gene': 'GC05M038934', 'score': 0.19}]
chr5 GH05I038875 38875059 38875208 0.56 [{'connected_gene': 'OSMR', 'score': 0.31}, {'connected_gene': 'GC05M038934', 'score': 0.21}]
chr5 GH05I038607 38607059 38608448 1.06 [{'connected_gene': 'LIFR', 'score': 563.7}, {'connected_gene': 'LINC01265', 'score': 17.78}, {'connected_gene': 'OSMR', 'score': 11.46}, {'connected_gene': 'LIFR-AS1', 'score': 9.49}, {'connected_gene': 'GC05P038579', 'score': 0.31}]
chr5 GH05I039207 39207349 39216178 1.24 [{'connected_gene': 'FYB1', 'score': 19.55}, {'connected_gene': 'RICTOR', 'score': 11.13}, {'connected_gene': 'OSMR', 'score': 5.04}, {'connected_gene': 'GC05P039191', 'score': 0.37}]
chr5 GH05I039167 39167279 39167800 1.24 [{'connected_gene': 'FYB1', 'score': 17.78}, {'connected_gene': 'LINC01265', 'score': 17.76}, {'connected_gene': 'LIFR', 'score': 12.96}, {'connected_gene': 'OSMR', 'score': 11.45}, {'connected_gene': 'GOLGA5P1', 'score': 0.77}, {'connected_gene': 'GC05M039106', 'score': 0.21}]
chr5 GH05I039072 39072071 39077943 2.62 [{'connected_gene': 'RICTOR', 'score': 589.77}, {'connected_gene': 'FYB1', 'score': 14.94}, {'connected_gene': 'OSMR', 'score': 7.75}, {'connected_gene': 'GC05M039106', 'score': 0.29}]
chr5 GH05I039013 39013552 39016907 1.06 [{'connected_gene': 'LOC105374732', 'score': 12.96}, {'connected_gene': 'RICTOR', 'score': 11.32}, {'connected_gene': 'OSMR', 'score': 5.51}, {'connected_gene': 'AIG1P1', 'score': 0.44}, {'connected_gene': 'GC05M038934', 'score': 0.18}]
chr5 GH05I038829 38829268 38833033 1.1 [{'connected_gene': 'LINC01265', 'score': 18.1}, {'connected_gene': 'RICTOR', 'score': 13.31}, {'connected_gene': 'LIFR', 'score': 13.01}, {'connected_gene': 'OSMR', 'score': 11.79}, {'connected_gene': 'OSMR-AS1', 'score': 0.39}, {'connected_gene': 'LOC105374733', 'score': 0.37}]
chr5 GH05I038924 38924734 38926832 0.43 [{'connected_gene': 'GC05M038934', 'score': 0.39}, {'connected_gene': 'OSMR', 'score': 0.18}]

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