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
ENST00000341695 [[106290233, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106345352, 106345479], [106359106, 106359193], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106377837, 106377902], [106395050, 106395238]] [[106290881, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106345352, 106345479], [106359106, 106359193], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106377837, 106377902], [106395050, 106395207]]
ENST00000348706 [[106290399, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106345352, 106345479], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106377837, 106377902], [106395050, 106395221]] [[106290881, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106345352, 106345479], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106377837, 106377902], [106395050, 106395207]]
ENST00000509031 [[106290717, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106345352, 106345479], [106359106, 106359193], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106377404, 106377448], [106377837, 106377902], [106395050, 106395171]] [[106374780, 106374799], [106377404, 106377448], [106377837, 106377902], [106395050, 106395114]]
ENST00000513605 [[106290721, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320793]] None
ENST00000515567 [[106290721, 106290910], [106291993, 106292030], [106367539, 106367659], [106370506, 106370528]] [[106290881, 106290910], [106291993, 106292030], [106367539, 106367659], [106370506, 106370528]]
ENST00000354147 [[106290721, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106395050, 106395207]] [[106290881, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106395050, 106395207]]
ENST00000432483 [[106290721, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106345352, 106345479], [106377837, 106377902], [106395050, 106395207]] [[106290881, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106345352, 106345479], [106377837, 106377902], [106395050, 106395207]]
ENST00000351450 [[106290721, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106345352, 106345479], [106359106, 106359193], [106367539, 106367659], [106370506, 106370560], [106395050, 106395224]] [[106370549, 106370560], [106395050, 106395207]]
ENST00000357415 [[106290724, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106345352, 106345479], [106359106, 106359193], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106377244, 106377245], [106377404, 106377448], [106377837, 106377902], [106395050, 106395221]] [[106290881, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106345352, 106345479], [106359106, 106359193], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106377244, 106377245], [106377404, 106377448], [106377837, 106377902], [106395050, 106395207]]
ENST00000380004 [[106290724, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106345352, 106345479], [106359106, 106359193], [106367539, 106367659], [106374754, 106374799], [106377837, 106377902], [106395050, 106395221]] [[106290881, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106345352, 106345479], [106359106, 106359193], [106367539, 106367659], [106374754, 106374799], [106377837, 106377902], [106395050, 106395207]]
ENST00000503171 [[106307769, 106307793], [106317405, 106317491], [106320193, 106320321], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106374937, 106375065]] None
ENST00000510015 [[106317482, 106317491], [106320193, 106320321], [106345352, 106345479], [106359106, 106359193], [106377837, 106377902], [106395050, 106395216]] [[106317482, 106317491], [106320193, 106320321], [106345352, 106345479], [106359106, 106359193], [106377837, 106377902], [106395050, 106395207]]
ENST00000509426 [[106319460, 106320024], [106320193, 106320321], [106345352, 106345479], [106359106, 106359193], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106377837, 106377902], [106395050, 106395216]] None
ENST00000508518 [[106320235, 106320321], [106345352, 106345479], [106359106, 106359193], [106367539, 106367659], [106374754, 106374799], [106377837, 106377902], [106395050, 106395197]] [[106320235, 106320321], [106345352, 106345479], [106359106, 106359193], [106367539, 106367659], [106374754, 106374799], [106377837, 106377902], [106395050, 106395197]]
ENST00000514209 [[106320307, 106320321], [106345352, 106345479], [106367539, 106367659], [106370506, 106370560], [106395050, 106395216]] [[106370549, 106370560], [106395050, 106395207]]
ENST00000506815 [[106326793, 106327105], [106345352, 106345479], [106359106, 106359193], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106395050, 106395144]] [[106374764, 106374799], [106395050, 106395144]]
ENST00000310267 [[106326793, 106327105], [106345352, 106345479], [106359106, 106359193], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106395050, 106395144]] [[106326914, 106327105], [106345352, 106345479], [106359106, 106359193], [106367539, 106367659], [106370506, 106370560], [106374754, 106374784]]
ENST00000457404 [[106326994, 106327105], [106345352, 106345479], [106359106, 106359193], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106377837, 106377902], [106395050, 106395219]] None
ENST00000502833 [[106344360, 106344538], [106345352, 106345479], [106359106, 106359193], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106377837, 106377902], [106395050, 106395216]] None
ENST00000504028 [[106345405, 106345479], [106359106, 106359193], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106377852, 106377902], [106395050, 106395216]] [[106345405, 106345479], [106359106, 106359193], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106377852, 106377902], [106395050, 106395207]]
ENST00000502596 [[106359133, 106359193], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106377837, 106377902], [106394496, 106394866]] [[106359133, 106359193], [106367539, 106367659], [106370506, 106370560], [106374754, 106374784]]
ENST00000513649 [[106359171, 106359193], [106367539, 106367659], [106369151, 106369250], [106370506, 106370560], [106374754, 106374799], [106377837, 106377902], [106395050, 106395216]] [[106369229, 106369250], [106370506, 106370560], [106374754, 106374799], [106377837, 106377902], [106395050, 106395207]]
ENST00000499847 [[106367358, 106367659], [106370506, 106370560], [106374754, 106374799], [106377837, 106377902], [106395050, 106395216]] None
ENST00000502610 [[106377237, 106377902], [106395050, 106395189]] None
ENST00000505713 [[106394514, 106394932], [106395050, 106395216]] None
NM_176869 [[106290233, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106345352, 106345479], [106359106, 106359193], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106377837, 106377902], [106395050, 106395227]] [[106290881, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106345352, 106345479], [106359106, 106359193], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106377837, 106377902], [106395050, 106395207]]
NM_006903 [[106290233, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106345352, 106345479], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106377837, 106377902], [106395050, 106395227]] [[106290881, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106345352, 106345479], [106367539, 106367659], [106370506, 106370560], [106374754, 106374799], [106377837, 106377902], [106395050, 106395207]]
NM_176866 [[106290233, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106345352, 106345479], [106377837, 106377902], [106395050, 106395227]] [[106290881, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106345352, 106345479], [106377837, 106377902], [106395050, 106395207]]
NM_176867 [[106290233, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106395050, 106395227]] [[106290881, 106290910], [106291993, 106292030], [106307723, 106307793], [106317405, 106317491], [106320193, 106320321], [106395050, 106395207]]
Promoter
Chrom Start End Description
chr4 106394869 106394888 CAGE_peak_4_at_PPA2_5end
chr4 106395135 106395146 CAGE_peak_2_at_PPA2_5end
chr4 106395163 106395174 CAGE_peak_3_at_PPA2_5end
chr4 106395206 106395239 CAGE_peak_1_at_PPA2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I105540 105540571 105542273 0.31 [{'connected_gene': 'GSTCD', 'score': 9.73}, {'connected_gene': 'INTS12', 'score': 9.68}, {'connected_gene': 'ENSG00000248778', 'score': 7.97}, {'connected_gene': 'PPA2', 'score': 5.15}, {'connected_gene': 'ATP5F1EP1', 'score': 0.44}, {'connected_gene': 'LOC105377352', 'score': 0.39}]
chr4 GH04I105585 105585066 105587324 0.98 [{'connected_gene': 'ARHGEF38', 'score': 11.27}, {'connected_gene': 'LOC105377352', 'score': 11.27}, {'connected_gene': 'INTS12', 'score': 5.78}, {'connected_gene': 'PPA2', 'score': 4.41}, {'connected_gene': 'ARHGEF38-IT1', 'score': 0.34}, {'connected_gene': 'ENSG00000248778', 'score': 0.16}]
chr4 GH04I105550 105550377 105558102 1.49 [{'connected_gene': 'ARHGEF38', 'score': 550.77}, {'connected_gene': 'LOC105377352', 'score': 550.77}, {'connected_gene': 'ENSG00000248778', 'score': 10.22}, {'connected_gene': 'PPA2', 'score': 5.38}, {'connected_gene': 'ARHGEF38-IT1', 'score': 0.44}]
chr4 GH04I105144 105144338 105149521 2.18 [{'connected_gene': 'TET2', 'score': 560.67}, {'connected_gene': 'EEF1A1P9', 'score': 22.15}, {'connected_gene': 'TET2-AS1', 'score': 11.76}, {'connected_gene': 'ENSG00000250740', 'score': 11.22}, {'connected_gene': 'PPA2', 'score': 7.77}, {'connected_gene': 'RN7SL89P', 'score': 0.11}]
chr4 GH04I105460 105460884 105462190 1.34 [{'connected_gene': 'TET2', 'score': 28.23}, {'connected_gene': 'PPA2', 'score': 6.44}, {'connected_gene': 'RNU6-553P', 'score': 0.23}]
chr4 GH04I105462 105462633 105462831 0.49 [{'connected_gene': 'TET2', 'score': 22.59}, {'connected_gene': 'PPA2', 'score': 0.39}, {'connected_gene': 'RNU6-553P', 'score': 0.22}]
chr4 GH04I105186 105186601 105187200 0.31 [{'connected_gene': 'TET2', 'score': 10.89}, {'connected_gene': 'PPA2', 'score': 8.86}, {'connected_gene': 'RN7SL89P', 'score': 0.14}, {'connected_gene': 'TET2-AS1', 'score': 0.1}]
chr4 GH04I105113 105113401 105114400 0.94 [{'connected_gene': 'TET2', 'score': 53.6}, {'connected_gene': 'RNU6-351P', 'score': 10.3}, {'connected_gene': 'ENSG00000248373', 'score': 10.26}, {'connected_gene': 'PPA2', 'score': 5.03}, {'connected_gene': 'ENSG00000252136', 'score': 0.44}, {'connected_gene': 'ENSG00000251259', 'score': 0.31}]
chr4 GH04I105470 105470709 105471131 0.51 [{'connected_gene': 'TET2', 'score': 35.49}, {'connected_gene': 'TET2-AS1', 'score': 10.89}, {'connected_gene': 'PPA2', 'score': 6.44}, {'connected_gene': 'RNU6-553P', 'score': 0.21}]
chr4 GH04I105469 105469784 105470400 0.52 [{'connected_gene': 'TET2', 'score': 24.62}, {'connected_gene': 'TET2-AS1', 'score': 10.89}, {'connected_gene': 'PPA2', 'score': 5.29}, {'connected_gene': 'RNU6-553P', 'score': 0.21}]
chr4 GH04I105149 105149630 105150513 1.09 [{'connected_gene': 'TET2', 'score': 29.44}, {'connected_gene': 'TET2-AS1', 'score': 11.76}, {'connected_gene': 'PPA2', 'score': 8.28}, {'connected_gene': 'RN7SL89P', 'score': 0.11}]
chr4 GH04I105194 105194001 105195689 1.08 [{'connected_gene': 'TET2', 'score': 11.62}, {'connected_gene': 'ENSG00000252136', 'score': 10.06}, {'connected_gene': 'LOC100288146', 'score': 10.05}, {'connected_gene': 'RNU6-351P', 'score': 9.76}, {'connected_gene': 'ENSG00000248373', 'score': 9.75}, {'connected_gene': 'PPA2', 'score': 5.8}, {'connected_gene': 'RN7SL89P', 'score': 0.15}, {'connected_gene': 'TET2-AS1', 'score': 0.1}]
chr4 GH04I105056 105056713 105058910 1.25 [{'connected_gene': 'TET2', 'score': 34.9}, {'connected_gene': 'LOC100288146', 'score': 11.28}, {'connected_gene': 'ENSG00000252136', 'score': 11.28}, {'connected_gene': 'RNU6-351P', 'score': 10.9}, {'connected_gene': 'ENSG00000248373', 'score': 10.82}, {'connected_gene': 'ENSG00000248778', 'score': 4.48}, {'connected_gene': 'PPA2', 'score': 4.35}, {'connected_gene': 'ENSG00000276992', 'score': 0.21}]
chr4 GH04I105718 105718743 105719848 0.31 [{'connected_gene': 'PPA2', 'score': 4.95}, {'connected_gene': 'GSTCD', 'score': 0.39}, {'connected_gene': 'LOC101929529', 'score': 0.14}, {'connected_gene': 'INTS12', 'score': 0.1}]
chr4 GH04I105161 105161642 105162960 0.63 [{'connected_gene': 'PPA2', 'score': 8.16}, {'connected_gene': 'TET2', 'score': 0.37}, {'connected_gene': 'RN7SL89P', 'score': 0.12}]
chr4 GH04I105163 105163203 105166400 0.43 [{'connected_gene': 'PPA2', 'score': 8.19}, {'connected_gene': 'TET2', 'score': 0.37}, {'connected_gene': 'RN7SL89P', 'score': 0.13}]
chr4 GH04I105471 105471331 105474693 2.05 [{'connected_gene': 'PPA2', 'score': 557.69}, {'connected_gene': 'TET2-AS1', 'score': 10.89}, {'connected_gene': 'RNU6-553P', 'score': 0.2}]
chr4 GH04I105342 105342942 105344221 0.49 [{'connected_gene': 'PPA2', 'score': 9.42}, {'connected_gene': 'ENSG00000248778', 'score': 7.31}, {'connected_gene': 'TET2-AS1', 'score': 5.28}, {'connected_gene': 'RN7SL89P', 'score': 0.25}]
chr4 GH04I105399 105399657 105400123 0.63 [{'connected_gene': 'PPA2', 'score': 9.4}, {'connected_gene': 'GC04P105407', 'score': 0.44}, {'connected_gene': 'TET2-AS1', 'score': 0.25}]
chr4 GH04I105184 105184601 105185000 0.63 [{'connected_gene': 'RNU6-351P', 'score': 9.75}, {'connected_gene': 'ENSG00000248373', 'score': 9.74}, {'connected_gene': 'PPA2', 'score': 4.74}, {'connected_gene': 'TET2', 'score': 0.28}, {'connected_gene': 'RN7SL89P', 'score': 0.14}, {'connected_gene': 'TET2-AS1', 'score': 0.1}]
chr4 GH04I105022 105022157 105023604 0.87 [{'connected_gene': 'RNU6-351P', 'score': 10.93}, {'connected_gene': 'ENSG00000248373', 'score': 10.81}, {'connected_gene': 'LOC100288146', 'score': 10.51}, {'connected_gene': 'ENSG00000252136', 'score': 10.51}, {'connected_gene': 'PPA2', 'score': 4.44}, {'connected_gene': 'ENSG00000276992', 'score': 0.31}]
chr4 GH04I105152 105152960 105154269 0.31 [{'connected_gene': 'TET2-AS1', 'score': 11.76}, {'connected_gene': 'PPA2', 'score': 7.56}, {'connected_gene': 'TET2', 'score': 0.44}, {'connected_gene': 'RN7SL89P', 'score': 0.11}]
chr4 GH04I105205 105205717 105208848 0.38 [{'connected_gene': 'TET2-AS1', 'score': 10.7}, {'connected_gene': 'PPA2', 'score': 8.44}, {'connected_gene': 'TET2', 'score': 0.21}, {'connected_gene': 'RN7SL89P', 'score': 0.17}]
chr4 GH04I105154 105154873 105156704 0.31 [{'connected_gene': 'TET2-AS1', 'score': 11.76}, {'connected_gene': 'PPA2', 'score': 8.17}, {'connected_gene': 'TET2', 'score': 0.44}, {'connected_gene': 'RN7SL89P', 'score': 0.12}]
chr4 GH04I105352 105352181 105353478 0.99 [{'connected_gene': 'TET2-AS1', 'score': 550.77}, {'connected_gene': 'PPA2', 'score': 4.42}, {'connected_gene': 'RN7SL89P', 'score': 0.22}]
chr4 GH04I105198 105198270 105199796 0.2 [{'connected_gene': 'TET2-AS1', 'score': 11.33}, {'connected_gene': 'PPA2', 'score': 8.86}, {'connected_gene': 'ARHGEF38-IT1', 'score': 4.28}, {'connected_gene': 'TET2', 'score': 0.23}, {'connected_gene': 'RN7SL89P', 'score': 0.16}]
chr4 GH04I105158 105158071 105159359 0.75 [{'connected_gene': 'TET2-AS1', 'score': 11.76}, {'connected_gene': 'LOC100288146', 'score': 10.1}, {'connected_gene': 'ENSG00000252136', 'score': 10.1}, {'connected_gene': 'PPA2', 'score': 4.08}, {'connected_gene': 'TET2', 'score': 0.39}, {'connected_gene': 'RN7SL89P', 'score': 0.12}]

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