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
ENST00000538962 [[114312001, 114312079], [114332370, 114332489], [114337013, 114337122], [114341075, 114341231], [114345751, 114345869], [114348277, 114348445], [114355205, 114355262], [114356501, 114356547], [114359596, 114359712], [114361882, 114362135]] [[114312052, 114312079], [114332370, 114332489], [114337013, 114337122], [114341075, 114341231], [114345751, 114345869], [114348277, 114348445], [114355205, 114355262], [114356501, 114356547], [114359596, 114359702]]
ENST00000466771 [[114324856, 114325511], [114326436, 114326542], [114332370, 114332489], [114337013, 114337122], [114341075, 114341180]] [[114326518, 114326542], [114332370, 114332489], [114337013, 114337122], [114341075, 114341180]]
ENST00000309195 [[114325246, 114325511], [114332370, 114332489], [114337013, 114337122], [114341075, 114341231], [114345751, 114345869], [114348277, 114348445], [114355205, 114355262], [114356501, 114356547], [114359596, 114359712], [114361618, 114361687]] [[114325400, 114325511], [114332370, 114332489], [114337013, 114337122], [114341075, 114341231], [114345751, 114345869], [114348277, 114348445], [114355205, 114355262], [114356501, 114356547], [114359596, 114359702]]
ENST00000407693 [[114325246, 114325511], [114332370, 114332489], [114337013, 114337122], [114341075, 114341231], [114345751, 114345869], [114348277, 114348445], [114355205, 114355262], [114356501, 114356547], [114359596, 114359712], [114361882, 114362135]] [[114325400, 114325511], [114332370, 114332489], [114337013, 114337122], [114341075, 114341231], [114345751, 114345869], [114348277, 114348445], [114355205, 114355262], [114356501, 114356547], [114359596, 114359702]]
ENST00000374324 [[114325252, 114326542], [114332370, 114332489], [114337013, 114337122], [114341075, 114341231], [114345751, 114345869], [114348277, 114348445], [114351543, 114351662], [114355205, 114355262], [114356501, 114356547], [114359596, 114359712]] [[114351649, 114351662], [114355205, 114355262], [114356501, 114356547], [114359596, 114359702]]
ENST00000238248 [[114326518, 114326542], [114332370, 114332489], [114337013, 114337122], [114341075, 114341231], [114345751, 114345869], [114348277, 114348445], [114355205, 114355262], [114356501, 114356547], [114359596, 114359712], [114361882, 114362135]] [[114326518, 114326542], [114332370, 114332489], [114337013, 114337122], [114341075, 114341231], [114345751, 114345869], [114348277, 114348285]]
ENST00000422125 [[114345831, 114345869], [114348277, 114348445], [114356501, 114356547], [114359596, 114359712], [114361882, 114361975]] [[114345831, 114345869], [114348277, 114348445], [114356501, 114356547], [114359596, 114359702]]
ENST00000374313 [[114354577, 114355262], [114356501, 114356547], [114359596, 114359712], [114361882, 114362096]] None
ENST00000374308 [[114354646, 114355262], [114356501, 114356547], [114359596, 114359712], [114361618, 114361687]] None
ENST00000485319 [[114354970, 114355262], [114359596, 114359693]] None
NM_001146109 [[114312001, 114312079], [114332370, 114332489], [114337013, 114337122], [114341075, 114341231], [114345751, 114345869], [114348277, 114348445], [114355205, 114355262], [114356501, 114356547], [114359596, 114359712], [114361882, 114362135]] [[114312052, 114312079], [114332370, 114332489], [114337013, 114337122], [114341075, 114341231], [114345751, 114345869], [114348277, 114348445], [114355205, 114355262], [114356501, 114356547], [114359596, 114359702]]
NM_012212 [[114325246, 114325511], [114332370, 114332489], [114337013, 114337122], [114341075, 114341231], [114345751, 114345869], [114348277, 114348445], [114355205, 114355262], [114356501, 114356547], [114359596, 114359712], [114361618, 114361711]] [[114325400, 114325511], [114332370, 114332489], [114337013, 114337122], [114341075, 114341231], [114345751, 114345869], [114348277, 114348445], [114355205, 114355262], [114356501, 114356547], [114359596, 114359702]]
NM_001146108 [[114325246, 114325511], [114332370, 114332489], [114337013, 114337122], [114341075, 114341231], [114345751, 114345869], [114348277, 114348445], [114355205, 114355262], [114356501, 114356547], [114359596, 114359712], [114361882, 114362135]] [[114325400, 114325511], [114332370, 114332489], [114337013, 114337122], [114341075, 114341231], [114345751, 114345869], [114348277, 114348445], [114355205, 114355262], [114356501, 114356547], [114359596, 114359702]]
Promoter
Chrom Start End Description
chr9 114361665 114361719 CAGE_peak_2_at_PTGR1_5end
chr9 114361919 114361935 CAGE_peak_1_at_PTGR1_5end
chr9 114362093 114362138 CAGE_peak_3_at_PTGR1_5end
chr9 114362139 114362150 CAGE_peak_4_at_PTGR1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I111895 111895081 111905616 2.48 [{'connected_gene': 'UGCG', 'score': 550.77}, {'connected_gene': 'RNU6-1013P', 'score': 11.05}, {'connected_gene': 'GNG10', 'score': 6.87}, {'connected_gene': 'ENSG00000224067', 'score': 4.92}, {'connected_gene': 'C9orf84', 'score': 4.87}, {'connected_gene': 'PTGR1', 'score': 4.74}, {'connected_gene': 'MIR4668', 'score': 0.29}]
chr9 GH09I111288 111288881 111289030 0.56 [{'connected_gene': 'OR2K2', 'score': 10.3}, {'connected_gene': 'PTGR1', 'score': 4.83}, {'connected_gene': 'LOC105376219', 'score': 0.77}]
chr9 GH09I111623 111622741 111622890 0.79 [{'connected_gene': 'PTGR1', 'score': 7.42}, {'connected_gene': 'LRRC37A5P', 'score': 0.44}, {'connected_gene': 'PIR58841', 'score': 0.39}]
chr9 GH09I111622 111622001 111622170 0.56 [{'connected_gene': 'PTGR1', 'score': 8.41}, {'connected_gene': 'LRRC37A5P', 'score': 0.44}, {'connected_gene': 'PIR58841', 'score': 0.39}]
chr9 GH09I111626 111626572 111628420 0.93 [{'connected_gene': 'PTGR1', 'score': 9.85}, {'connected_gene': 'DNAJC25', 'score': 6.01}, {'connected_gene': 'LRRC37A5P', 'score': 0.77}, {'connected_gene': 'PIR58841', 'score': 0.37}]
chr9 GH09I111597 111597767 111600402 1.88 [{'connected_gene': 'PTGR1', 'score': 566.3}, {'connected_gene': 'GNG10', 'score': 16.06}, {'connected_gene': 'LRRC37A5P', 'score': 6.67}, {'connected_gene': 'ZNF483', 'score': 5.82}, {'connected_gene': 'ENSG00000224644', 'score': 0.34}]
chr9 GH09I111602 111602790 111605978 0.67 [{'connected_gene': 'PTGR1', 'score': 17.32}, {'connected_gene': 'GNG10', 'score': 10.95}, {'connected_gene': 'ENSG00000224644', 'score': 10.91}, {'connected_gene': 'ECPAS', 'score': 10.31}, {'connected_gene': 'PIR33411', 'score': 0.77}, {'connected_gene': 'LRRC37A5P', 'score': 0.31}]
chr9 GH09I111600 111600888 111602001 1.25 [{'connected_gene': 'PTGR1', 'score': 560.65}, {'connected_gene': 'GNG10', 'score': 13.09}, {'connected_gene': 'ZNF483', 'score': 5.81}, {'connected_gene': 'ECPAS', 'score': 2.1}, {'connected_gene': 'PIR33411', 'score': 0.44}]
chr9 GH09I111851 111851048 111852425 1.18 [{'connected_gene': 'PTGR1', 'score': 4.59}, {'connected_gene': 'GNG10', 'score': 4.23}, {'connected_gene': 'RNU6-1013P', 'score': 0.39}, {'connected_gene': 'UGCG', 'score': 0.25}]
chr9 GH09I111232 111232961 111234594 0.43 [{'connected_gene': 'PTGR1', 'score': 7.28}, {'connected_gene': 'LPAR1', 'score': 6.62}, {'connected_gene': 'ZNF483', 'score': 4.72}, {'connected_gene': 'GNG10', 'score': 4.61}, {'connected_gene': 'MIR7702', 'score': 0.28}, {'connected_gene': 'LOC105376219', 'score': 0.23}, {'connected_gene': 'ENSG00000227531', 'score': 0.23}, {'connected_gene': 'RNY4P18', 'score': 0.12}, {'connected_gene': 'GC09M111098', 'score': 0.12}]
chr9 GH09I111470 111470386 111471757 0.2 [{'connected_gene': 'PTGR1', 'score': 8.45}, {'connected_gene': 'ZNF483', 'score': 8.12}, {'connected_gene': 'ECPAS', 'score': 0.39}, {'connected_gene': 'RNA5SP294', 'score': 0.22}]
chr9 GH09I110767 110767028 110768330 0.51 [{'connected_gene': 'PTGR1', 'score': 4.64}, {'connected_gene': 'RPS21P5', 'score': 0.26}, {'connected_gene': 'GC09P110867', 'score': 0.15}, {'connected_gene': 'MUSK', 'score': 0.15}]
chr9 GH09I111033 111033422 111039897 2.27 [{'connected_gene': 'LPAR1', 'score': 555.81}, {'connected_gene': 'SVEP1', 'score': 12.25}, {'connected_gene': 'PTGR1', 'score': 4.33}, {'connected_gene': 'ENSG00000207401', 'score': 0.15}]
chr9 GH09I110891 110891768 110893057 0.8 [{'connected_gene': 'LPAR1', 'score': 10.5}, {'connected_gene': 'PTGR1', 'score': 5.87}, {'connected_gene': 'C9orf152', 'score': 5.64}, {'connected_gene': 'GC09P110904', 'score': 0.39}, {'connected_gene': 'GC09P110867', 'score': 0.34}]
chr9 GH09I111298 111298063 111300030 0.91 [{'connected_gene': 'LPAR1', 'score': 11.22}, {'connected_gene': 'PTGR1', 'score': 4.86}, {'connected_gene': 'LOC105376219', 'score': 0.39}, {'connected_gene': 'OR2K2', 'score': 0.29}]
chr9 GH09I111254 111254000 111254401 0.31 [{'connected_gene': 'LPAR1', 'score': 4.88}, {'connected_gene': 'PTGR1', 'score': 4.58}, {'connected_gene': 'MIR7702', 'score': 0.37}, {'connected_gene': 'LOC105376219', 'score': 0.29}, {'connected_gene': 'ENSG00000227531', 'score': 0.29}, {'connected_gene': 'RNY4P18', 'score': 0.1}, {'connected_gene': 'GC09M111098', 'score': 0.1}]
chr9 GH09I111117 111117494 111119290 0.31 [{'connected_gene': 'LPAR1', 'score': 17.07}, {'connected_gene': 'PTGR1', 'score': 7.2}, {'connected_gene': 'RNY4P18', 'score': 0.34}, {'connected_gene': 'GC09M111098', 'score': 0.34}, {'connected_gene': 'MIR7702', 'score': 0.1}]
chr9 GH09I110976 110976964 110978170 0.94 [{'connected_gene': 'LPAR1', 'score': 10.94}, {'connected_gene': 'RNU6-432P', 'score': 10.5}, {'connected_gene': 'PTGR1', 'score': 7.17}, {'connected_gene': 'ENSG00000207401', 'score': 0.26}]
chr9 GH09I111854 111854504 111855948 0.31 [{'connected_gene': 'C9orf84', 'score': 7.38}, {'connected_gene': 'PTGR1', 'score': 5.97}, {'connected_gene': 'GNG10', 'score': 4.96}, {'connected_gene': 'RNU6-1013P', 'score': 0.37}, {'connected_gene': 'UGCG', 'score': 0.26}]
chr9 GH09I112072 112072180 112076211 1.65 [{'connected_gene': 'C9orf84', 'score': 11.01}, {'connected_gene': 'ENSG00000224067', 'score': 11.01}, {'connected_gene': 'RNU6-1013P', 'score': 10.88}, {'connected_gene': 'SUSD1', 'score': 5.25}, {'connected_gene': 'UGCG', 'score': 3.98}, {'connected_gene': 'GNG10', 'score': 1.69}, {'connected_gene': 'PTGR1', 'score': 1.61}, {'connected_gene': 'ENSG00000259953', 'score': 0.28}, {'connected_gene': 'RNU6-855P', 'score': 0.21}]
chr9 GH09I111356 111356152 111357279 0.74 [{'connected_gene': 'ZNF483', 'score': 7.87}, {'connected_gene': 'PTGR1', 'score': 5.86}, {'connected_gene': 'PIR34688', 'score': 0.37}, {'connected_gene': 'RNA5SP294', 'score': 0.22}]
chr9 GH09I111888 111888645 111893314 1.3 [{'connected_gene': 'RNU6-710P', 'score': 11.68}, {'connected_gene': 'RNU6-1013P', 'score': 11.42}, {'connected_gene': 'GNG10', 'score': 8.61}, {'connected_gene': 'C9orf84', 'score': 5.09}, {'connected_gene': 'PTGR1', 'score': 4.39}, {'connected_gene': 'UGCG', 'score': 0.44}]
chr9 GH09I112045 112045269 112048200 1.3 [{'connected_gene': 'ENSG00000259953', 'score': 7.09}, {'connected_gene': 'GNG10', 'score': 2.24}, {'connected_gene': 'UGCG', 'score': 2.14}, {'connected_gene': 'PTGR1', 'score': 1.33}, {'connected_gene': 'RNU6-855P', 'score': 0.16}, {'connected_gene': 'SUSD1', 'score': 0.13}]
chr9 GH09I111481 111481421 111485286 2.26 [{'connected_gene': 'ECPAS', 'score': 550.77}, {'connected_gene': 'PTGR1', 'score': 11.77}, {'connected_gene': 'ZNF483', 'score': 8.69}, {'connected_gene': 'RNA5SP294', 'score': 0.19}]
chr9 GH09I111572 111572826 111573985 0.66 [{'connected_gene': 'ENSG00000224644', 'score': 550.77}, {'connected_gene': 'PTGR1', 'score': 17.35}, {'connected_gene': 'ZNF483', 'score': 8.3}]
chr9 GH09I111527 111527373 111530710 0.54 [{'connected_gene': 'ENSG00000224644', 'score': 11.04}, {'connected_gene': 'ECPAS', 'score': 10.71}, {'connected_gene': 'ZNF483', 'score': 8.55}, {'connected_gene': 'PTGR1', 'score': 5.34}]