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
ENST00000224337 [[97951457, 97951848], [97956663, 97956819], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97975076, 97975145], [97976408, 97976490], [97983581, 97983745], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031297]] [[97951728, 97951848], [97956663, 97956819], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97975076, 97975145], [97976408, 97976490], [97983581, 97983745], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031155]]
ENST00000371176 [[97951457, 97951848], [97956663, 97956819], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97976408, 97976490], [97983581, 97983745], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031297]] [[97951728, 97951848], [97956663, 97956819], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97976408, 97976490], [97983581, 97983745], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031155]]
ENST00000413476 [[97951462, 97951848], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97975076, 97975145], [97976408, 97976490], [97983581, 97983745], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031333]] [[97951728, 97951848], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97975076, 97975145], [97976408, 97976490], [97983581, 97983745], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031155]]
ENST00000427367 [[97951462, 97951848], [97959238, 97959289], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97975076, 97975145], [97976408, 97976490], [97983581, 97983745], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031333]] [[97951728, 97951848], [97959238, 97959289], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97975076, 97975145], [97976408, 97976490], [97983581, 97983745], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031155]]
ENST00000485193 [[97959721, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964610]] None
ENST00000467799 [[97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97975076, 97975145], [97976408, 97976490], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031344]] [[97976485, 97976490], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031155]]
ENST00000468252 [[97964352, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97970059]] None
ENST00000472763 [[97975604, 97976490], [97983581, 97983745], [97987165, 97987253]] None
ENST00000495266 [[97998643, 97998920], [98002490, 98002540], [98006739, 98006805], [98031108, 98031155]] [[97998885, 97998920], [98002490, 98002540], [98006739, 98006805], [98031108, 98031155]]
NR_047681 [[97951454, 97951848], [97956663, 97956819], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97976408, 97976490], [97987165, 97987322], [97990549, 97990590], [98002485, 98002540], [98006739, 98006805], [98031108, 98031273]] None
NM_001258440 [[97951454, 97951848], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97975076, 97975145], [97976408, 97976490], [97983581, 97983745], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031273]] [[97951728, 97951848], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97975076, 97975145], [97976408, 97976490], [97983581, 97983745], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031155]]
NM_001258441 [[97951454, 97951848], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97976408, 97976490], [97983581, 97983745], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031273]] [[97951728, 97951848], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97976408, 97976490], [97983581, 97983745], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031155]]
NR_047683 [[97951454, 97951848], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97976408, 97976490], [97983581, 97983745], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031273]] None
NR_047682 [[97951454, 97951848], [97956663, 97956819], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97976408, 97976490], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031273]] None
NR_047680 [[97951454, 97951848], [97956663, 97956819], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97975076, 97975145], [97976408, 97976490], [97987177, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031273]] None
NM_001258442 [[97951454, 97951848], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97975076, 97975088], [97987177, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031273]] [[97951728, 97951848], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97975076, 97975088], [97987177, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031155]]
NM_013314 [[97951454, 97951848], [97956663, 97956819], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97975076, 97975145], [97976408, 97976490], [97983581, 97983745], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031333]] [[97951728, 97951848], [97956663, 97956819], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97975076, 97975145], [97976408, 97976490], [97983581, 97983745], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031155]]
NM_001114094 [[97951454, 97951848], [97956663, 97956819], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97976408, 97976490], [97983581, 97983745], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031333]] [[97951728, 97951848], [97956663, 97956819], [97959830, 97959914], [97960737, 97960814], [97963812, 97963844], [97964287, 97964372], [97966766, 97966809], [97967627, 97967655], [97969593, 97969663], [97976408, 97976490], [97983581, 97983745], [97987165, 97987322], [97990549, 97990590], [98002490, 98002540], [98006739, 98006805], [98031108, 98031155]]
Promoter
Chrom Start End Description
chr10 98031171 98031180 CAGE_peak_4_at_BLNK_5end
chr10 98031240 98031251 CAGE_peak_3_at_BLNK_5end
chr10 98031265 98031306 CAGE_peak_1_at_BLNK_5end
chr10 98031310 98031338 CAGE_peak_2_at_BLNK_5end
chr10 98031360 98031369 CAGE_peak_5_at_BLNK_5end
chr10 98031518 98031523 CAGE_peak_7_at_BLNK_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I095781 95781616 95788221 1.46 [{'connected_gene': 'ENTPD1', 'score': 36.12}, {'connected_gene': 'TCTN3', 'score': 20.92}, {'connected_gene': 'CC2D2B', 'score': 8.12}, {'connected_gene': 'BLNK', 'score': 1.34}, {'connected_gene': 'GC10M095714', 'score': 0.34}, {'connected_gene': 'ENTPD1-AS1', 'score': 0.06}]
chr10 GH10I096284 96284686 96284857 0.22 [{'connected_gene': 'OPALIN', 'score': 9.73}, {'connected_gene': 'RNU6-271P', 'score': 9.67}, {'connected_gene': 'CC2D2B', 'score': 3.86}, {'connected_gene': 'BLNK', 'score': 0.39}, {'connected_gene': 'DNTT', 'score': 0.37}, {'connected_gene': 'GC10M096095', 'score': 0.12}]
chr10 GH10I096285 96285404 96285593 0.65 [{'connected_gene': 'OPALIN', 'score': 9.73}, {'connected_gene': 'RNU6-271P', 'score': 9.67}, {'connected_gene': 'BLNK', 'score': 0.39}, {'connected_gene': 'DNTT', 'score': 0.37}, {'connected_gene': 'GC10M096095', 'score': 0.12}]
chr10 GH10I096017 96017304 96017453 0.66 [{'connected_gene': 'CCNJ', 'score': 12.35}, {'connected_gene': 'ENTPD1-AS1', 'score': 12.2}, {'connected_gene': 'BLNK', 'score': 10.49}, {'connected_gene': 'ZNF518A', 'score': 5.2}, {'connected_gene': 'RPL21P90', 'score': 0.37}, {'connected_gene': 'CC2D2B', 'score': 0.14}]
chr10 GH10I096266 96266533 96274946 2.6 [{'connected_gene': 'BLNK', 'score': 573.44}, {'connected_gene': 'ZNF518A', 'score': 1.29}, {'connected_gene': 'GC10M096216', 'score': 0.34}, {'connected_gene': 'GC10M096095', 'score': 0.11}]
chr10 GH10I096364 96364798 96369498 0.43 [{'connected_gene': 'BLNK', 'score': 15.01}, {'connected_gene': 'GC10P096374', 'score': 0.44}, {'connected_gene': 'OPALIN', 'score': 0.44}, {'connected_gene': 'GC10M096095', 'score': 0.25}, {'connected_gene': 'TLL2', 'score': 0.11}]
chr10 GH10I096242 96241794 96245214 1.15 [{'connected_gene': 'BLNK', 'score': 19.4}, {'connected_gene': 'OPALIN', 'score': 10.14}, {'connected_gene': 'CC2D2B', 'score': 9.76}, {'connected_gene': 'GC10M096216', 'score': 0.77}, {'connected_gene': 'GC10M096200', 'score': 0.26}, {'connected_gene': 'GC10M096095', 'score': 0.09}]
chr10 GH10I096286 96286322 96291549 1.58 [{'connected_gene': 'BLNK', 'score': 10.58}, {'connected_gene': 'OPALIN', 'score': 9.73}, {'connected_gene': 'RNU6-271P', 'score': 9.68}, {'connected_gene': 'TLL2', 'score': 4.87}, {'connected_gene': 'DNTT', 'score': 0.37}, {'connected_gene': 'GC10M096095', 'score': 0.13}]
chr10 GH10I096292 96292984 96294075 1.03 [{'connected_gene': 'BLNK', 'score': 11.41}, {'connected_gene': 'OPALIN', 'score': 9.74}, {'connected_gene': 'RNU6-271P', 'score': 9.67}, {'connected_gene': 'DNTT', 'score': 0.39}, {'connected_gene': 'ENSG00000229418', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.13}]
chr10 GH10I096247 96247933 96250930 0.2 [{'connected_gene': 'BLNK', 'score': 17.27}, {'connected_gene': 'OPALIN', 'score': 9.8}, {'connected_gene': 'GC10M096216', 'score': 0.77}, {'connected_gene': 'GC10M096095', 'score': 0.1}]
chr10 GH10I096362 96362075 96363621 0.31 [{'connected_gene': 'BLNK', 'score': 5.95}, {'connected_gene': 'OPALIN', 'score': 0.77}, {'connected_gene': 'GC10P096374', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.23}]
chr10 GH10I096235 96235804 96236473 0.66 [{'connected_gene': 'BLNK', 'score': 11.29}, {'connected_gene': 'OPALIN', 'score': 9.75}, {'connected_gene': 'GC10M096216', 'score': 0.39}, {'connected_gene': 'GC10M096200', 'score': 0.29}, {'connected_gene': 'GC10M096095', 'score': 0.09}]
chr10 GH10I096238 96238882 96239689 0.62 [{'connected_gene': 'BLNK', 'score': 11.19}, {'connected_gene': 'OPALIN', 'score': 10.1}, {'connected_gene': 'GC10M096216', 'score': 0.44}, {'connected_gene': 'GC10M096200', 'score': 0.28}, {'connected_gene': 'GC10M096095', 'score': 0.1}]
chr10 GH10I096241 96241551 96241694 0.24 [{'connected_gene': 'BLNK', 'score': 23.84}, {'connected_gene': 'CC2D2B', 'score': 10.97}, {'connected_gene': 'OPALIN', 'score': 10.14}, {'connected_gene': 'GC10M096216', 'score': 0.77}, {'connected_gene': 'GC10M096200', 'score': 0.28}, {'connected_gene': 'GC10M096095', 'score': 0.09}]
chr10 GH10I096297 96297774 96301604 0.78 [{'connected_gene': 'BLNK', 'score': 4.9}, {'connected_gene': 'DNTT', 'score': 0.77}, {'connected_gene': 'ENSG00000229418', 'score': 0.44}, {'connected_gene': 'GC10M096095', 'score': 0.13}]
chr10 GH10I096294 96294481 96295382 0.2 [{'connected_gene': 'BLNK', 'score': 11.41}, {'connected_gene': 'DNTT', 'score': 0.44}, {'connected_gene': 'ENSG00000229418', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.13}]
chr10 GH10I096283 96283844 96283993 0.46 [{'connected_gene': 'BLNK', 'score': 0.39}, {'connected_gene': 'DNTT', 'score': 0.34}, {'connected_gene': 'GC10M096095', 'score': 0.12}]
chr10 GH10I096277 96276944 96277093 0.51 [{'connected_gene': 'BLNK', 'score': 0.44}, {'connected_gene': 'DNTT', 'score': 0.31}, {'connected_gene': 'GC10M096095', 'score': 0.12}]
chr10 GH10I096276 96276164 96276313 0.82 [{'connected_gene': 'BLNK', 'score': 0.77}, {'connected_gene': 'DNTT', 'score': 0.31}, {'connected_gene': 'GC10M096095', 'score': 0.11}]
chr10 GH10I096267 96266212 96266353 0.82 [{'connected_gene': 'BLNK', 'score': 9.28}, {'connected_gene': 'GC10M096216', 'score': 0.34}, {'connected_gene': 'GC10M096095', 'score': 0.1}]
chr10 GH10I096261 96261448 96263579 0.82 [{'connected_gene': 'BLNK', 'score': 0.44}, {'connected_gene': 'GC10M096216', 'score': 0.37}, {'connected_gene': 'GC10M096095', 'score': 0.1}]
chr10 GH10I096257 96257801 96258400 0.78 [{'connected_gene': 'BLNK', 'score': 5.65}, {'connected_gene': 'GC10M096216', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.1}]
chr10 GH10I096259 96259693 96260943 0.63 [{'connected_gene': 'BLNK', 'score': 9.24}, {'connected_gene': 'GC10M096216', 'score': 0.39}, {'connected_gene': 'GC10M096095', 'score': 0.1}]
chr10 GH10I096305 96305151 96305272 0.42 [{'connected_gene': 'DNTT', 'score': 554.52}, {'connected_gene': 'ENSG00000229418', 'score': 550.77}, {'connected_gene': 'BLNK', 'score': 15.74}, {'connected_gene': 'CCNJ', 'score': 1.88}, {'connected_gene': 'ZNF518A', 'score': 1.62}, {'connected_gene': 'CC2D2B', 'score': 1.27}, {'connected_gene': 'GC10M096095', 'score': 0.14}]
chr10 GH10I096302 96302161 96303077 0.38 [{'connected_gene': 'DNTT', 'score': 550.77}, {'connected_gene': 'BLNK', 'score': 6.01}, {'connected_gene': 'ENSG00000229418', 'score': 0.77}, {'connected_gene': 'GC10M096095', 'score': 0.14}]
chr10 GH10I096303 96303307 96303704 0.2 [{'connected_gene': 'DNTT', 'score': 550.77}, {'connected_gene': 'ENSG00000229418', 'score': 0.77}, {'connected_gene': 'BLNK', 'score': 0.29}, {'connected_gene': 'GC10M096095', 'score': 0.14}]
chr10 GH10I096296 96296635 96297118 0.2 [{'connected_gene': 'DNTT', 'score': 0.44}, {'connected_gene': 'ENSG00000229418', 'score': 0.44}, {'connected_gene': 'BLNK', 'score': 0.31}, {'connected_gene': 'GC10M096095', 'score': 0.13}]
chr10 GH10I096295 96295460 96296579 0.2 [{'connected_gene': 'DNTT', 'score': 0.44}, {'connected_gene': 'ENSG00000229418', 'score': 0.39}, {'connected_gene': 'BLNK', 'score': 0.34}, {'connected_gene': 'GC10M096095', 'score': 0.13}]
chr10 GH10I096650 96650426 96653193 1.16 [{'connected_gene': 'PIK3AP1', 'score': 12.43}, {'connected_gene': 'MIR607', 'score': 10.72}, {'connected_gene': 'LCOR', 'score': 10.71}, {'connected_gene': 'BLNK', 'score': 10.36}, {'connected_gene': 'GC10M096631', 'score': 0.39}]
chr10 GH10I096228 96228142 96231193 1.12 [{'connected_gene': 'GC10M096216', 'score': 0.37}, {'connected_gene': 'GC10M096200', 'score': 0.31}, {'connected_gene': 'BLNK', 'score': 0.26}, {'connected_gene': 'GC10M096095', 'score': 0.09}]
chr10 GH10I096222 96222565 96222794 0.43 [{'connected_gene': 'GC10M096216', 'score': 0.34}, {'connected_gene': 'GC10M096200', 'score': 0.34}, {'connected_gene': 'BLNK', 'score': 0.25}, {'connected_gene': 'GC10M096095', 'score': 0.08}]

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