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
ENST00000576785 [[78143790, 78143855], [78152306, 78152454], [78152902, 78153100], [78155217, 78155368]] [[78155237, 78155368]]
ENST00000573489 [[78143801, 78143855], [78146704, 78147027], [78152306, 78152454], [78152902, 78152932]] None
ENST00000573882 [[78143810, 78143855], [78146704, 78147027], [78152306, 78152454], [78155217, 78155448], [78156451, 78156589], [78157711, 78158037], [78162175, 78162343], [78163551, 78163671], [78164572, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172390], [78175542, 78175669], [78175978, 78176219], [78177620, 78177684], [78178025, 78178140], [78178833, 78179004], [78179329, 78179451], [78180768, 78180884], [78181936, 78183130]] [[78155237, 78155448], [78156451, 78156589], [78157711, 78158037], [78162175, 78162343], [78163551, 78163671], [78164572, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172390], [78175542, 78175669], [78175978, 78176219], [78177620, 78177684], [78178025, 78178140], [78178833, 78179004], [78179329, 78179451], [78180768, 78180884], [78181936, 78182144]]
ENST00000575465 [[78143832, 78143855], [78152324, 78152454], [78152902, 78153100], [78155217, 78155448]] [[78155237, 78155448]]
ENST00000575500 [[78143832, 78143855], [78152306, 78152454], [78155217, 78155448], [78156451, 78156589], [78157711, 78158037], [78162175, 78162343], [78163551, 78163671], [78164640, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172390], [78175542, 78175669], [78175978, 78176219], [78177620, 78177684], [78178025, 78178150], [78178833, 78179004], [78179329, 78179451], [78180768, 78180884], [78181936, 78182762]] [[78155237, 78155448], [78156451, 78156589], [78157711, 78158037], [78162175, 78162343], [78163551, 78163671], [78164640, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169407]]
ENST00000571427 [[78144075, 78144333], [78146704, 78147027], [78152324, 78152454]] None
ENST00000344227 [[78152273, 78152454], [78155217, 78155448], [78156451, 78156589], [78157711, 78158037], [78162175, 78162343], [78163551, 78163671], [78164572, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172390], [78175542, 78175669], [78175978, 78176219], [78177620, 78177684], [78178025, 78178140], [78178833, 78179004], [78179329, 78179451], [78180768, 78180884], [78181936, 78182855]] [[78155237, 78155448], [78156451, 78156589], [78157711, 78158037], [78162175, 78162343], [78163551, 78163671], [78164572, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172390], [78175542, 78175669], [78175978, 78176219], [78177620, 78177684], [78178025, 78178140], [78178833, 78179004], [78179329, 78179451], [78180768, 78180884], [78181936, 78182144]]
ENST00000570421 [[78152297, 78152454], [78155217, 78155448], [78156451, 78156589], [78157711, 78158037], [78162175, 78162343], [78163551, 78163671], [78164572, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172390], [78175542, 78175669], [78175978, 78176430]] [[78155237, 78155448], [78156451, 78156589], [78157711, 78158037], [78162175, 78162343], [78163551, 78163671], [78164572, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172390], [78175542, 78175669], [78175978, 78176223]]
ENST00000572838 [[78157949, 78158037], [78162175, 78162640]] None
ENST00000392434 [[78157973, 78158037], [78162175, 78162343], [78163551, 78163671], [78164572, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172390], [78175978, 78176219], [78177620, 78177684]] [[78162211, 78162343], [78163551, 78163671], [78164572, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172390], [78175978, 78176164]]
ENST00000571450 [[78157973, 78158037], [78162175, 78162343], [78163551, 78163671], [78164572, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172390], [78175978, 78176219], [78177620, 78177684], [78178025, 78178034]] [[78157973, 78158037], [78162175, 78162343], [78163551, 78163671], [78164572, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172390], [78175978, 78176164]]
ENST00000573754 [[78161598, 78161722], [78162175, 78162343], [78163551, 78163671], [78164572, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172723]] None
ENST00000571861 [[78162021, 78162343], [78163551, 78163671], [78164572, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169829]] None
ENST00000574148 [[78165960, 78166014], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171956]] None
ENST00000575666 [[78166178, 78166418], [78168989, 78169132], [78169356, 78171331]] None
NR_047566 [[78143790, 78143855], [78152306, 78152454], [78155217, 78155448], [78156451, 78156589], [78157711, 78158037], [78162175, 78162343], [78163551, 78163671], [78164640, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172390], [78175542, 78175669], [78175978, 78176219], [78177620, 78177684], [78178025, 78178150], [78178833, 78179004], [78179329, 78179451], [78180768, 78180884], [78181936, 78183130]] None
NM_001257970 [[78152306, 78152454], [78155217, 78155448], [78156451, 78156589], [78157711, 78158037], [78162175, 78162343], [78163551, 78163671], [78164572, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172390], [78175542, 78175669], [78175978, 78176430]] [[78155237, 78155448], [78156451, 78156589], [78157711, 78158037], [78162175, 78162343], [78163551, 78163671], [78164572, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172390], [78175542, 78175669], [78175978, 78176223]]
NM_024110 [[78152306, 78152454], [78155217, 78155448], [78156451, 78156589], [78157711, 78158037], [78162175, 78162343], [78163551, 78163671], [78164572, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172390], [78175542, 78175669], [78175978, 78176219], [78177620, 78177684], [78178025, 78178140], [78178833, 78179004], [78179329, 78179451], [78180768, 78180884], [78181936, 78183130]] [[78155237, 78155448], [78156451, 78156589], [78157711, 78158037], [78162175, 78162343], [78163551, 78163671], [78164572, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172390], [78175542, 78175669], [78175978, 78176219], [78177620, 78177684], [78178025, 78178140], [78178833, 78179004], [78179329, 78179451], [78180768, 78180884], [78181936, 78182144]]
NM_052819 [[78161598, 78161722], [78162175, 78162343], [78163551, 78163671], [78164572, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172723]] [[78162211, 78162343], [78163551, 78163671], [78164572, 78164698], [78165121, 78165271], [78166301, 78166418], [78168989, 78169132], [78169356, 78169451], [78171897, 78171961], [78172197, 78172555]]
Promoter
Chrom Start End Description
chr17 78152310 78152314 CAGE_peak_10_at_CARD14_5end
chr17 78152323 78152332 CAGE_peak_3_at_CARD14_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I080082 80082354 80083408 0.92 [{'connected_gene': 'EIF4A3', 'score': 11.86}, {'connected_gene': 'GAA', 'score': 11.84}, {'connected_gene': 'CARD14', 'score': 5.19}, {'connected_gene': 'MIR1268B', 'score': 0.37}, {'connected_gene': 'GC17P080040', 'score': 0.26}, {'connected_gene': 'CCDC40', 'score': 0.25}]
chr17 GH17I080272 80272324 80275736 0.7 [{'connected_gene': 'CARD14', 'score': 12.37}, {'connected_gene': 'RNF213', 'score': 7.18}, {'connected_gene': 'ENSG00000262979', 'score': 0.26}]
chr17 GH17I080177 80177991 80178671 1.02 [{'connected_gene': 'CARD14', 'score': 550.44}, {'connected_gene': 'GAA', 'score': 10.22}, {'connected_gene': 'GC17P080181', 'score': 0.77}]
chr17 GH17I080169 80169402 80170578 0.74 [{'connected_gene': 'CARD14', 'score': 550.77}, {'connected_gene': 'GAA', 'score': 14.4}, {'connected_gene': 'GC17M080155', 'score': 0.39}]
chr17 GH17I080269 80269929 80271607 0.87 [{'connected_gene': 'CARD14', 'score': 12.37}, {'connected_gene': 'CEP131', 'score': 11.5}, {'connected_gene': 'RNF213', 'score': 0.44}, {'connected_gene': 'ENSG00000262979', 'score': 0.26}]
chr17 GH17I080207 80207801 80208200 0.31 [{'connected_gene': 'SGSH', 'score': 24.02}, {'connected_gene': 'EIF4A3', 'score': 11.53}, {'connected_gene': 'GAA', 'score': 5.49}, {'connected_gene': 'ENSG00000262580', 'score': 0.77}, {'connected_gene': 'GC17M080212', 'score': 0.44}, {'connected_gene': 'GC17P080181', 'score': 0.31}, {'connected_gene': 'CARD14', 'score': 0.28}]
chr17 GH17I080252 80252622 80266776 2.87 [{'connected_gene': 'RNF213', 'score': 558.49}, {'connected_gene': 'GC17M080259', 'score': 550.77}, {'connected_gene': 'EIF4A3', 'score': 17.75}, {'connected_gene': 'CHMP6', 'score': 13.86}, {'connected_gene': 'ENSG00000262580', 'score': 11.85}, {'connected_gene': 'CARD14', 'score': 11.72}, {'connected_gene': 'CEP131', 'score': 9.67}, {'connected_gene': 'RPL12P37', 'score': 5.75}, {'connected_gene': 'SLC26A11', 'score': 5.49}, {'connected_gene': 'RBFOX3', 'score': 5.18}, {'connected_gene': 'SGSH', 'score': 3.72}, {'connected_gene': 'GAA', 'score': 2.76}]
chr17 GH17I080064 80064091 80064860 1.03 [{'connected_gene': 'CCDC40', 'score': 13.6}, {'connected_gene': 'CARD14', 'score': 11.46}, {'connected_gene': 'EIF4A3', 'score': 11.23}, {'connected_gene': 'TBC1D16', 'score': 5.12}, {'connected_gene': 'GC17P080040', 'score': 0.34}, {'connected_gene': 'MIR1268B', 'score': 0.29}]
chr17 GH17I080378 80378428 80378699 0.23 [{'connected_gene': 'ENDOV', 'score': 11.79}, {'connected_gene': 'CARD14', 'score': 11.12}, {'connected_gene': 'EIF4A3', 'score': 10.86}, {'connected_gene': 'RNF213', 'score': 2.61}, {'connected_gene': 'GAA', 'score': 1.5}, {'connected_gene': 'PIR58967', 'score': 0.77}, {'connected_gene': 'PIR46423', 'score': 0.77}, {'connected_gene': 'LOC100294362', 'score': 0.28}]
chr17 GH17I080218 80218289 80222793 2.01 [{'connected_gene': 'SLC26A11', 'score': 571.22}, {'connected_gene': 'SGSH', 'score': 550.77}, {'connected_gene': 'ENSG00000262580', 'score': 24.5}, {'connected_gene': 'CARD14', 'score': 12.33}, {'connected_gene': 'CBX8', 'score': 10.08}, {'connected_gene': 'GC17P080181', 'score': 0.28}]
chr17 GH17I080109 80109722 80109891 0.46 [{'connected_gene': 'GAA', 'score': 39.52}, {'connected_gene': 'EIF4A3', 'score': 11.91}, {'connected_gene': 'CARD14', 'score': 11.68}, {'connected_gene': 'TBC1D16', 'score': 11.15}, {'connected_gene': 'CCDC40', 'score': 11.15}, {'connected_gene': 'GC17M080103', 'score': 0.77}, {'connected_gene': 'GC17P080128', 'score': 0.37}]
chr17 GH17I080092 80092001 80093407 0.31 [{'connected_gene': 'GAA', 'score': 17.71}, {'connected_gene': 'EIF4A3', 'score': 11.89}, {'connected_gene': 'CARD14', 'score': 11.77}, {'connected_gene': 'ENSG00000262580', 'score': 5.45}, {'connected_gene': 'MIR1268B', 'score': 0.44}, {'connected_gene': 'GC17P080040', 'score': 0.23}, {'connected_gene': 'CCDC40', 'score': 0.22}]
chr17 GH17I080065 80065271 80066380 0.31 [{'connected_gene': 'GAA', 'score': 19.86}, {'connected_gene': 'CARD14', 'score': 11.47}, {'connected_gene': 'EIF4A3', 'score': 11.23}, {'connected_gene': 'TBC1D16', 'score': 6.63}, {'connected_gene': 'GC17P080040', 'score': 0.31}, {'connected_gene': 'CCDC40', 'score': 0.31}, {'connected_gene': 'MIR1268B', 'score': 0.29}]
chr17 GH17I080175 80175074 80175899 0.92 [{'connected_gene': 'GAA', 'score': 13.34}, {'connected_gene': 'CARD14', 'score': 0.44}, {'connected_gene': 'GC17P080181', 'score': 0.44}]
chr17 GH17I080161 80160502 80160851 0.67 [{'connected_gene': 'GAA', 'score': 12.36}, {'connected_gene': 'GC17M080155', 'score': 0.44}, {'connected_gene': 'CARD14', 'score': 0.44}]
chr17 GH17I080186 80186821 80188691 0.77 [{'connected_gene': 'LOC100294362', 'score': 10.83}, {'connected_gene': 'GAA', 'score': 7.43}, {'connected_gene': 'ENSG00000262580', 'score': 7.36}, {'connected_gene': 'CCDC40', 'score': 4.62}, {'connected_gene': 'GC17P080181', 'score': 0.44}, {'connected_gene': 'CARD14', 'score': 0.37}]
chr17 GH17I080206 80206714 80207262 0.2 [{'connected_gene': 'ENSG00000262580', 'score': 574.25}, {'connected_gene': 'EIF4A3', 'score': 11.55}, {'connected_gene': 'GC17M080212', 'score': 0.44}, {'connected_gene': 'SGSH', 'score': 0.39}, {'connected_gene': 'GC17P080181', 'score': 0.31}, {'connected_gene': 'CARD14', 'score': 0.28}]
chr17 GH17I080196 80196442 80196591 0.7 [{'connected_gene': 'ENSG00000262580', 'score': 0.44}, {'connected_gene': 'GC17P080181', 'score': 0.39}, {'connected_gene': 'CARD14', 'score': 0.31}]
chr17 GH17I080195 80195900 80196371 0.87 [{'connected_gene': 'ENSG00000262580', 'score': 6.03}, {'connected_gene': 'GC17P080181', 'score': 0.39}, {'connected_gene': 'CARD14', 'score': 0.31}]
chr17 GH17I080160 80160991 80161494 0.48 [{'connected_gene': 'GC17M080155', 'score': 0.44}, {'connected_gene': 'CARD14', 'score': 0.44}]
chr17 GH17I080197 80197682 80198509 0.52 [{'connected_gene': 'ENSG00000262580', 'score': 0.44}, {'connected_gene': 'GC17P080181', 'score': 0.37}, {'connected_gene': 'CARD14', 'score': 0.31}]
chr17 GH17I080191 80191322 80191451 0.31 [{'connected_gene': 'GC17P080181', 'score': 0.44}, {'connected_gene': 'ENSG00000262580', 'score': 0.39}, {'connected_gene': 'CARD14', 'score': 0.34}]
chr17 GH17I080212 80212544 80213800 0.31 [{'connected_gene': 'GC17M080212', 'score': 550.77}, {'connected_gene': 'SGSH', 'score': 26.72}, {'connected_gene': 'CARD14', 'score': 12.15}, {'connected_gene': 'EIF4A3', 'score': 11.27}, {'connected_gene': 'SLC26A11', 'score': 0.44}, {'connected_gene': 'GC17P080181', 'score': 0.29}]
chr17 GH17I080155 80155722 80155871 0.73 [{'connected_gene': 'GC17M080155', 'score': 550.77}, {'connected_gene': 'ENDOV', 'score': 12.42}, {'connected_gene': 'CARD14', 'score': 0.39}]

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