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
ENST00000233146 [[47630107, 47630541], [47635539, 47635694], [47637232, 47637511], [47639552, 47639699], [47641407, 47641557], [47643434, 47643568], [47656880, 47657080], [47672686, 47672796], [47690169, 47690293], [47693796, 47693947], [47698103, 47698201], [47702163, 47702409], [47703505, 47703710], [47705410, 47705658], [47707834, 47708010], [47709917, 47710367]] [[47630330, 47630541], [47635539, 47635694], [47637232, 47637511], [47639552, 47639699], [47641407, 47641557], [47643434, 47643568], [47656880, 47657080], [47672686, 47672796], [47690169, 47690293], [47693796, 47693947], [47698103, 47698201], [47702163, 47702409], [47703505, 47703710], [47705410, 47705658], [47707834, 47708010], [47709917, 47710088]]
ENST00000543555 [[47630205, 47630314], [47630498, 47630541], [47635539, 47635694], [47637232, 47637511], [47639552, 47639699], [47641407, 47641557], [47643434, 47643568], [47656880, 47657080], [47672686, 47672796], [47690169, 47690293], [47693796, 47693947], [47698103, 47698201], [47702163, 47702409], [47703505, 47703710], [47705410, 47705658], [47707834, 47708010], [47709917, 47710360]] [[47630528, 47630541], [47635539, 47635694], [47637232, 47637511], [47639552, 47639699], [47641407, 47641557], [47643434, 47643568], [47656880, 47657080], [47672686, 47672796], [47690169, 47690293], [47693796, 47693947], [47698103, 47698201], [47702163, 47702409], [47703505, 47703710], [47705410, 47705658], [47707834, 47708010], [47709917, 47710088]]
ENST00000406134 [[47630268, 47630541], [47635539, 47635694], [47637232, 47637511], [47639552, 47639699], [47641407, 47641557], [47643434, 47643568], [47656880, 47657080], [47672686, 47672796], [47690169, 47690293], [47693796, 47693947], [47698103, 47698201], [47702163, 47702409], [47703505, 47703710], [47705410, 47705658], [47707834, 47708010], [47739441, 47740373]] [[47630330, 47630541], [47635539, 47635694], [47637232, 47637511], [47639552, 47639699], [47641407, 47641557], [47643434, 47643568], [47656880, 47657080], [47672686, 47672796], [47690169, 47690293], [47693796, 47693947], [47698103, 47698201], [47702163, 47702409], [47703505, 47703710], [47705410, 47705658], [47707834, 47708010], [47739441, 47739573]]
ENST00000461394 [[47707935, 47708010], [47739441, 47739559], [47789227, 47789450]] None
ENST00000454849 [[47630205, 47630314], [47630498, 47630541], [47635539, 47635694], [47637232, 47637485]] [[47630528, 47630541], [47635539, 47635694], [47637232, 47637485]]
ENST00000467323 [[47782997, 47783087], [47789227, 47789450]] None
NM_001258281 [[47630205, 47630314], [47630498, 47630541], [47635539, 47635694], [47637232, 47637511], [47639552, 47639699], [47641407, 47641557], [47643434, 47643568], [47656880, 47657080], [47672686, 47672796], [47690169, 47690293], [47693796, 47693947], [47698103, 47698201], [47702163, 47702409], [47703505, 47703710], [47705410, 47705658], [47707834, 47708010], [47709917, 47710367]] [[47630528, 47630541], [47635539, 47635694], [47637232, 47637511], [47639552, 47639699], [47641407, 47641557], [47643434, 47643568], [47656880, 47657080], [47672686, 47672796], [47690169, 47690293], [47693796, 47693947], [47698103, 47698201], [47702163, 47702409], [47703505, 47703710], [47705410, 47705658], [47707834, 47708010], [47709917, 47710088]]
NM_000251 [[47630205, 47630541], [47635539, 47635694], [47637232, 47637511], [47639552, 47639699], [47641407, 47641557], [47643434, 47643568], [47656880, 47657080], [47672686, 47672796], [47690169, 47690293], [47693796, 47693947], [47698103, 47698201], [47702163, 47702409], [47703505, 47703710], [47705410, 47705658], [47707834, 47708010], [47709917, 47710367]] [[47630330, 47630541], [47635539, 47635694], [47637232, 47637511], [47639552, 47639699], [47641407, 47641557], [47643434, 47643568], [47656880, 47657080], [47672686, 47672796], [47690169, 47690293], [47693796, 47693947], [47698103, 47698201], [47702163, 47702409], [47703505, 47703710], [47705410, 47705658], [47707834, 47708010], [47709917, 47710088]]
Promoter
Chrom Start End Description
chr2 47630200 47630211 CAGE_peak_4_at_MSH2_5end
chr2 47630213 47630233 CAGE_peak_2_at_MSH2_5end
chr2 47630255 47630333 CAGE_peak_1_at_MSH2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I046481 46481144 46482371 0.95 [{'connected_gene': 'SOCS5', 'score': 13.79}, {'connected_gene': 'RHOQ', 'score': 11.32}, {'connected_gene': 'ATP6V1E2', 'score': 11.32}, {'connected_gene': 'MSH2', 'score': 11.3}, {'connected_gene': 'LOC101805491', 'score': 10.4}, {'connected_gene': 'EPAS1', 'score': 9.65}, {'connected_gene': 'PRKCE', 'score': 9.24}, {'connected_gene': 'TMEM247', 'score': 0.77}, {'connected_gene': 'ENSG00000253515', 'score': 0.37}, {'connected_gene': 'ENSG00000284608', 'score': 0.23}]
chr2 GH02I047169 47169640 47178063 2.56 [{'connected_gene': 'CALM2', 'score': 561.05}, {'connected_gene': 'MSH6', 'score': 58.45}, {'connected_gene': 'SOCS5', 'score': 31.89}, {'connected_gene': 'ENSG00000225187', 'score': 30.17}, {'connected_gene': 'ENSG00000228925', 'score': 29.79}, {'connected_gene': 'RPL18AP6', 'score': 28.55}, {'connected_gene': 'FBXO11', 'score': 11.42}, {'connected_gene': 'LOC101927043', 'score': 10.15}, {'connected_gene': 'MSH2', 'score': 9.85}, {'connected_gene': 'ATP6V1E2', 'score': 5.22}, {'connected_gene': 'STPG4', 'score': 4.62}]
chr2 GH02I047563 47563418 47563619 0.28 [{'connected_gene': 'HCG2040054', 'score': 10.86}, {'connected_gene': 'KCNK12', 'score': 7.54}, {'connected_gene': 'MSH2', 'score': 5.51}, {'connected_gene': 'PIR54322', 'score': 0.37}]
chr2 GH02I046870 46870278 46879511 1.69 [{'connected_gene': 'TTC7A', 'score': 24.36}, {'connected_gene': 'SOCS5', 'score': 21.99}, {'connected_gene': 'MSH6', 'score': 21.41}, {'connected_gene': 'MCFD2', 'score': 18.69}, {'connected_gene': 'STPG4', 'score': 10.45}, {'connected_gene': 'MSH2', 'score': 9.97}, {'connected_gene': 'GC02M046879', 'score': 0.44}, {'connected_gene': 'ENSG00000226548', 'score': 0.34}]
chr2 GH02I047568 47568303 47568312 0.54 [{'connected_gene': 'KCNK12', 'score': 3.54}, {'connected_gene': 'MSH2', 'score': 1.78}, {'connected_gene': 'MSH6', 'score': 1.26}, {'connected_gene': 'FBXO11', 'score': 1.16}, {'connected_gene': 'PIR54322', 'score': 0.34}]
chr2 GH02I047351 47351165 47352612 0.38 [{'connected_gene': 'MSH2', 'score': 26.76}, {'connected_gene': 'MIR559', 'score': 11.8}, {'connected_gene': 'EPCAM', 'score': 0.44}, {'connected_gene': 'RN7SKP119', 'score': 0.44}]
chr2 GH02I047533 47533910 47535090 1.03 [{'connected_gene': 'MSH2', 'score': 27.51}, {'connected_gene': 'HCG2040054', 'score': 0.44}, {'connected_gene': 'PIR54322', 'score': 0.39}, {'connected_gene': 'KCNK12', 'score': 0.28}]
chr2 GH02I047488 47488615 47489926 0.76 [{'connected_gene': 'MSH2', 'score': 13.75}, {'connected_gene': 'HCG2040054', 'score': 11.71}, {'connected_gene': 'PIR36168', 'score': 0.29}]
chr2 GH02I047374 47374719 47375143 0.2 [{'connected_gene': 'MSH2', 'score': 48.17}, {'connected_gene': 'EPCAM', 'score': 15.22}, {'connected_gene': 'GC02P047378', 'score': 0.77}, {'connected_gene': 'RN7SKP119', 'score': 0.37}]
chr2 GH02I047401 47401830 47404781 2.06 [{'connected_gene': 'MSH2', 'score': 601.78}, {'connected_gene': 'ENSG00000228925', 'score': 11.73}, {'connected_gene': 'MSH6', 'score': 11.32}, {'connected_gene': 'SOCS5', 'score': 10.9}, {'connected_gene': 'ENSG00000225187', 'score': 10.77}, {'connected_gene': 'EPCAM', 'score': 8.79}, {'connected_gene': 'PIR36168', 'score': 0.13}]
chr2 GH02I047362 47362626 47362986 0.31 [{'connected_gene': 'MSH2', 'score': 12.74}, {'connected_gene': 'RN7SKP119', 'score': 0.77}, {'connected_gene': 'GC02P047378', 'score': 0.39}, {'connected_gene': 'EPCAM', 'score': 0.37}]
chr2 GH02I047487 47487262 47487411 0.79 [{'connected_gene': 'MSH2', 'score': 14.51}, {'connected_gene': 'PIR36168', 'score': 0.28}]
chr2 GH02I047368 47368029 47374301 2.18 [{'connected_gene': 'EPCAM', 'score': 578.82}, {'connected_gene': 'MSH2', 'score': 14.4}, {'connected_gene': 'LOC101927043', 'score': 12.38}, {'connected_gene': 'SOCS5', 'score': 12.22}, {'connected_gene': 'GC02P047378', 'score': 0.44}, {'connected_gene': 'RN7SKP119', 'score': 0.39}]
chr2 GH02I047422 47422105 47423170 0.6 [{'connected_gene': 'EPCAM', 'score': 8.54}, {'connected_gene': 'MSH2', 'score': 0.37}, {'connected_gene': 'PIR36168', 'score': 0.15}]
chr2 GH02I047342 47342469 47347454 1.88 [{'connected_gene': 'EPCAM', 'score': 559.87}, {'connected_gene': 'LOC101927043', 'score': 550.77}, {'connected_gene': 'MSH2', 'score': 42.51}, {'connected_gene': 'BCYRN1', 'score': 8.07}]
chr2 GH02I047722 47722842 47726150 1.03 [{'connected_gene': 'FOXN2', 'score': 5.34}, {'connected_gene': 'MSH2', 'score': 4.95}, {'connected_gene': 'GC02M047726', 'score': 0.77}, {'connected_gene': 'ENSG00000224443', 'score': 0.37}, {'connected_gene': 'LOC100289315', 'score': 0.37}, {'connected_gene': 'MSH6', 'score': 0.31}]
chr2 GH02I047268 47268874 47275536 1.72 [{'connected_gene': 'MSH6', 'score': 96.47}, {'connected_gene': 'ENSG00000228925', 'score': 68.67}, {'connected_gene': 'FBXO11', 'score': 29.23}, {'connected_gene': 'ENSG00000233845', 'score': 27.16}, {'connected_gene': 'ENSG00000225187', 'score': 21.06}, {'connected_gene': 'SOCS5', 'score': 20.62}, {'connected_gene': 'MSH2', 'score': 20.2}, {'connected_gene': 'CALM2', 'score': 11.82}, {'connected_gene': 'RPL36AP15', 'score': 11.07}, {'connected_gene': 'RPL18AP6', 'score': 10.67}, {'connected_gene': 'STPG4', 'score': 6.72}, {'connected_gene': 'PIR36995', 'score': 0.44}, {'connected_gene': 'ENSG00000226087', 'score': 0.25}, {'connected_gene': 'LOC101927043', 'score': 0.19}]
chr2 GH02I047353 47353298 47362498 1.38 [{'connected_gene': 'RN7SKP119', 'score': 550.77}, {'connected_gene': 'MSH2', 'score': 21.9}, {'connected_gene': 'EPCAM', 'score': 15.55}]
chr2 GH02I047307 47307147 47314344 1.43 [{'connected_gene': 'LOC101927043', 'score': 13.71}, {'connected_gene': 'SOCS5', 'score': 12.22}, {'connected_gene': 'MSH6', 'score': 12.16}, {'connected_gene': 'MSH2', 'score': 10.68}, {'connected_gene': 'GC02M047306', 'score': 0.77}, {'connected_gene': 'GC02P047335', 'score': 0.34}]
chr2 GH02I047091 47091200 47091401 0.58 [{'connected_gene': 'ENSG00000225187', 'score': 12.22}, {'connected_gene': 'ENSG00000233845', 'score': 11.2}, {'connected_gene': 'CALM2', 'score': 10.95}, {'connected_gene': 'MSH2', 'score': 4.64}, {'connected_gene': 'STPG4', 'score': 0.21}]
chr2 GH02I047520 47520201 47522000 1.02 [{'connected_gene': 'GC02P047523', 'score': 550.77}, {'connected_gene': 'PIR36168', 'score': 550.77}, {'connected_gene': 'MSH2', 'score': 10.19}, {'connected_gene': 'KCNK12', 'score': 0.25}]
chr2 GH02I047381 47381331 47382196 0.2 [{'connected_gene': 'ENSG00000277396', 'score': 550.77}, {'connected_gene': 'MSH2', 'score': 49.7}, {'connected_gene': 'EPCAM', 'score': 15.92}, {'connected_gene': 'GC02P047377', 'score': 0.77}]
chr2 GH02I047388 47388362 47388531 0.84 [{'connected_gene': 'ENSG00000277396', 'score': 0.44}, {'connected_gene': 'MSH2', 'score': 0.39}]

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