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
ENST00000332674 [[111967362, 111967840], [111987946, 111988079], [112004585, 112004615], [112038937, 112039052], [112039671, 112039843], [112044581, 112047123]] [[111967566, 111967840], [111987946, 111988079], [112004585, 112004615], [112038937, 112039052], [112039671, 112039843], [112044581, 112044745]]
ENST00000453116 [[111967441, 111967840], [111987946, 111988079], [112038937, 112039052], [112039671, 112039827]] [[111967566, 111967840], [111987946, 111988079], [112038937, 112039052], [112039671, 112039827]]
ENST00000361248 [[111969988, 111970073], [111987946, 111988079], [112038937, 112039052], [112039671, 112039843], [112044581, 112046264]] [[111987981, 111988079], [112038937, 112039052], [112039671, 112039843], [112044581, 112044745]]
ENST00000239007 [[111985750, 111986041], [111987946, 111988079], [112004585, 112004615], [112038937, 112039052], [112039671, 112039843], [112044581, 112046264]] [[111985968, 111986041], [111987946, 111988079], [112004585, 112004615], [112038937, 112039052], [112039671, 112039843], [112044581, 112044745]]
ENST00000460667 [[111985792, 111986041], [111987946, 111988079], [112004585, 112004631], [112038937, 112039052], [112039671, 112039843], [112044581, 112044648]] None
ENST00000393134 [[111985841, 111986041], [111987946, 111988079], [112038937, 112039052], [112039671, 112039843], [112044581, 112044850]] [[111985968, 111986041], [111987946, 111988079], [112038937, 112039052], [112039671, 112039843], [112044581, 112044745]]
ENST00000484030 [[111987123, 111987144], [111987946, 111988079], [112004585, 112004615], [112005500, 112005576], [112038937, 112039052], [112039671, 112039843], [112044581, 112044872]] None
ENST00000442296 [[111987298, 111987543], [111987946, 111988079], [112004585, 112004615], [112038937, 112039052], [112039671, 112039782]] [[111987981, 111988079], [112004585, 112004615], [112038937, 112039052], [112039671, 112039782]]
ENST00000485566 [[111987400, 111988079], [112004585, 112004615], [112005500, 112005576], [112038937, 112039052], [112039671, 112039843], [112044581, 112046264]] None
ENST00000369612 [[111987436, 111987640], [111987946, 111988079], [112004585, 112004615], [112038937, 112039052], [112039671, 112039843], [112044581, 112044806]] [[111987981, 111988079], [112004585, 112004615], [112038937, 112039052], [112039671, 112039843], [112044581, 112044745]]
NM_130439 [[111967362, 111967840], [111987946, 111988079], [112004585, 112004615], [112038937, 112039052], [112039671, 112039843], [112044581, 112047123]] [[111967566, 111967840], [111987946, 111988079], [112004585, 112004615], [112038937, 112039052], [112039671, 112039843], [112044581, 112044745]]
NM_001008541 [[111969988, 111970073], [111987946, 111988079], [112038937, 112039052], [112039671, 112039843], [112044581, 112047123]] [[111987981, 111988079], [112038937, 112039052], [112039671, 112039843], [112044581, 112044745]]
NM_005962 [[111985761, 111986041], [111987946, 111988079], [112004585, 112004615], [112038937, 112039052], [112039671, 112039843], [112044581, 112047123]] [[111985968, 111986041], [111987946, 111988079], [112004585, 112004615], [112038937, 112039052], [112039671, 112039843], [112044581, 112044745]]
Promoter
Chrom Start End Description
chr10 111967317 111967328 CAGE_peak_5_at_MXI1_5end
chr10 111967331 111967336 CAGE_peak_10_at_MXI1_5end
chr10 111967345 111967422 CAGE_peak_1_at_MXI1_5end
chr10 111985713 111985774 CAGE_peak_2_at_MXI1_5end
chr10 111985777 111985788 CAGE_peak_4_at_MXI1_5end
chr10 111985837 111985844 CAGE_peak_9_at_MXI1_5end
chr10 111987079 111987115 CAGE_peak_3_at_MXI1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I110281 110281291 110283131 0.2 [{'connected_gene': 'MXI1', 'score': 22.07}, {'connected_gene': 'ENSG00000228417', 'score': 11.17}, {'connected_gene': 'XPNPEP1', 'score': 9.51}, {'connected_gene': 'RNU4-5P', 'score': 9.21}, {'connected_gene': 'SMNDC1', 'score': 0.34}, {'connected_gene': 'ENSG00000214067', 'score': 0.31}]
chr10 GH10I110284 110284149 110285395 0.31 [{'connected_gene': 'MXI1', 'score': 21.22}, {'connected_gene': 'ENSG00000228417', 'score': 11.16}, {'connected_gene': 'XPNPEP1', 'score': 9.51}, {'connected_gene': 'RNU4-5P', 'score': 9.21}, {'connected_gene': 'SMNDC1', 'score': 0.34}, {'connected_gene': 'ENSG00000214067', 'score': 0.31}]
chr10 GH10I110375 110375741 110377228 1.18 [{'connected_gene': 'MXI1', 'score': 4.78}, {'connected_gene': 'PDCD4-AS1', 'score': 4.23}, {'connected_gene': 'GC10P110318', 'score': 0.22}, {'connected_gene': 'HMGB3P5', 'score': 0.19}]
chr10 GH10I110280 110279201 110279762 1.19 [{'connected_gene': 'MXI1', 'score': 16.93}, {'connected_gene': 'ENSG00000228417', 'score': 11.67}, {'connected_gene': 'DUSP5', 'score': 10.3}, {'connected_gene': 'ENSG00000214067', 'score': 0.34}, {'connected_gene': 'SMNDC1', 'score': 0.31}]
chr10 GH10I110279 110279767 110280695 0.62 [{'connected_gene': 'MXI1', 'score': 21.67}, {'connected_gene': 'ENSG00000228417', 'score': 11.67}, {'connected_gene': 'DUSP5', 'score': 10.3}, {'connected_gene': 'ENSG00000214067', 'score': 0.34}, {'connected_gene': 'SMNDC1', 'score': 0.34}]
chr10 GH10I110140 110140567 110143133 0.85 [{'connected_gene': 'MXI1', 'score': 12.38}, {'connected_gene': 'ENSG00000228417', 'score': 12.38}, {'connected_gene': 'ADD3', 'score': 12.02}, {'connected_gene': 'SMNDC1', 'score': 10.62}, {'connected_gene': 'SNRPGP12', 'score': 0.77}, {'connected_gene': 'LOC105378479', 'score': 0.31}]
chr10 GH10I110292 110292154 110292732 0.37 [{'connected_gene': 'MXI1', 'score': 5.12}, {'connected_gene': 'ADD3', 'score': 2.04}, {'connected_gene': 'SMNDC1', 'score': 0.39}, {'connected_gene': 'ENSG00000214067', 'score': 0.28}]
chr10 GH10I110220 110220642 110223407 2.2 [{'connected_gene': 'MXI1', 'score': 590.78}, {'connected_gene': 'LOC105378480', 'score': 550.77}, {'connected_gene': 'SMNDC1', 'score': 10.88}, {'connected_gene': 'BBIP1', 'score': 5.67}, {'connected_gene': 'ADD3', 'score': 5.21}, {'connected_gene': 'ENSG00000228417', 'score': 0.39}]
chr10 GH10I110162 110162801 110163200 0.52 [{'connected_gene': 'MXI1', 'score': 11.81}, {'connected_gene': 'ENSG00000228417', 'score': 11.8}, {'connected_gene': 'LOC105378479', 'score': 0.77}, {'connected_gene': 'SNRPGP12', 'score': 0.34}]
chr10 GH10I110207 110206543 110206612 0.74 [{'connected_gene': 'MXI1', 'score': 550.77}, {'connected_gene': 'LOC105378479', 'score': 0.28}]
chr10 GH10I110209 110206263 110206452 0.57 [{'connected_gene': 'MXI1', 'score': 550.77}, {'connected_gene': 'LOC105378479', 'score': 0.28}]
chr10 GH10I110208 110206463 110206472 0.54 [{'connected_gene': 'MXI1', 'score': 550.77}, {'connected_gene': 'LOC105378479', 'score': 0.28}]
chr10 GH10I110225 110225130 110228001 2.21 [{'connected_gene': 'MXI1', 'score': 564.07}, {'connected_gene': 'PIR57221', 'score': 550.77}, {'connected_gene': 'SMNDC1', 'score': 10.89}, {'connected_gene': 'BBIP1', 'score': 5.68}, {'connected_gene': 'ENSG00000214067', 'score': 0.29}]
chr10 GH10I110269 110268983 110270644 1.25 [{'connected_gene': 'MXI1', 'score': 17.76}, {'connected_gene': 'ENSG00000228417', 'score': 11.66}, {'connected_gene': 'SMNDC1', 'score': 11.49}, {'connected_gene': 'BBIP1', 'score': 10.64}, {'connected_gene': 'ENSG00000214067', 'score': 0.39}]
chr10 GH10I110206 110206963 110213393 2.61 [{'connected_gene': 'MXI1', 'score': 573.03}, {'connected_gene': 'ENSG00000228417', 'score': 550.77}, {'connected_gene': 'SMNDC1', 'score': 14.26}, {'connected_gene': 'ADD3', 'score': 8.2}, {'connected_gene': 'LOC105378480', 'score': 0.39}]
chr10 GH10I110215 110213516 110213581 0.4 [{'connected_gene': 'MXI1', 'score': 11.68}, {'connected_gene': 'SMNDC1', 'score': 10.41}, {'connected_gene': 'ENSG00000228417', 'score': 0.77}, {'connected_gene': 'LOC105378480', 'score': 0.44}]
chr10 GH10I110214 110213975 110217914 1.14 [{'connected_gene': 'MXI1', 'score': 12.03}, {'connected_gene': 'SMNDC1', 'score': 10.42}, {'connected_gene': 'LOC105378480', 'score': 0.44}, {'connected_gene': 'ENSG00000228417', 'score': 0.44}]
chr10 GH10I110229 110229445 110230613 0.31 [{'connected_gene': 'MXI1', 'score': 25.92}, {'connected_gene': 'ENSG00000228417', 'score': 11.91}, {'connected_gene': 'SMNDC1', 'score': 11.28}, {'connected_gene': 'PIR57221', 'score': 0.77}, {'connected_gene': 'ENSG00000214067', 'score': 0.31}]
chr10 GH10I110265 110265517 110266136 0.72 [{'connected_gene': 'MXI1', 'score': 13.43}, {'connected_gene': 'ENSG00000214067', 'score': 0.44}, {'connected_gene': 'SMNDC1', 'score': 0.28}]
chr10 GH10I110260 110260471 110264488 0.67 [{'connected_gene': 'MXI1', 'score': 5.44}, {'connected_gene': 'ENSG00000214067', 'score': 0.44}, {'connected_gene': 'SMNDC1', 'score': 0.26}]
chr10 GH10I110268 110268603 110268712 0.51 [{'connected_gene': 'MXI1', 'score': 11.66}, {'connected_gene': 'ENSG00000228417', 'score': 11.66}, {'connected_gene': 'SMNDC1', 'score': 11.49}, {'connected_gene': 'ENSG00000214067', 'score': 0.39}]
chr10 GH10I110310 110310983 110311800 1.15 [{'connected_gene': 'MXI1', 'score': 9.5}, {'connected_gene': 'SMNDC1', 'score': 0.44}, {'connected_gene': 'GC10P110318', 'score': 0.44}]
chr10 GH10I110273 110273201 110274858 1.23 [{'connected_gene': 'MXI1', 'score': 17.26}, {'connected_gene': 'ENSG00000228417', 'score': 11.66}, {'connected_gene': 'SMNDC1', 'score': 11.51}, {'connected_gene': 'ENSG00000214067', 'score': 0.37}]
chr10 GH10I110149 110149305 110149468 0.66 [{'connected_gene': 'MXI1', 'score': 17.17}, {'connected_gene': 'SNRPGP12', 'score': 0.44}, {'connected_gene': 'LOC105378479', 'score': 0.37}]
chr10 GH10I110495 110495540 110506279 2.57 [{'connected_gene': 'DUSP5', 'score': 556.51}, {'connected_gene': 'SMC3', 'score': 16.01}, {'connected_gene': 'XPNPEP1', 'score': 10.3}, {'connected_gene': 'MXI1', 'score': 3.58}, {'connected_gene': 'BBIP1', 'score': 2.72}, {'connected_gene': 'SHOC2', 'score': 2.35}, {'connected_gene': 'PDCD4', 'score': 1.67}, {'connected_gene': 'ENSG00000273143', 'score': 0.77}, {'connected_gene': 'GC10P110525', 'score': 0.34}]
chr10 GH10I110335 110335650 110337132 1.12 [{'connected_gene': 'DUSP5', 'score': 10.7}, {'connected_gene': 'MXI1', 'score': 7.55}, {'connected_gene': 'GC10P110318', 'score': 0.37}, {'connected_gene': 'HMGB3P5', 'score': 0.14}]
chr10 GH10I110366 110366276 110368738 0.69 [{'connected_gene': 'DUSP5', 'score': 11.22}, {'connected_gene': 'ENSG00000273143', 'score': 4.91}, {'connected_gene': 'MXI1', 'score': 4.28}, {'connected_gene': 'GC10P110318', 'score': 0.25}, {'connected_gene': 'HMGB3P5', 'score': 0.18}]
chr10 GH10I110363 110363673 110365230 1.1 [{'connected_gene': 'DUSP5', 'score': 11.36}, {'connected_gene': 'SMNDC1', 'score': 10.45}, {'connected_gene': 'MXI1', 'score': 1.24}, {'connected_gene': 'GC10P110318', 'score': 0.25}, {'connected_gene': 'HMGB3P5', 'score': 0.17}]
chr10 GH10I110349 110349696 110351197 0.31 [{'connected_gene': 'DUSP5', 'score': 11.4}, {'connected_gene': 'SMNDC1', 'score': 11.27}, {'connected_gene': 'MXI1', 'score': 7.8}, {'connected_gene': 'GC10P110318', 'score': 0.29}, {'connected_gene': 'HMGB3P5', 'score': 0.15}]
chr10 GH10I110352 110352494 110359669 1.63 [{'connected_gene': 'DUSP5', 'score': 14.89}, {'connected_gene': 'SMNDC1', 'score': 11.15}, {'connected_gene': 'MXI1', 'score': 8.75}, {'connected_gene': 'GC10P110318', 'score': 0.28}, {'connected_gene': 'HMGB3P5', 'score': 0.16}]
chr10 GH10I110322 110322416 110328128 1.38 [{'connected_gene': 'DUSP5', 'score': 15.1}, {'connected_gene': 'SMNDC1', 'score': 11.31}, {'connected_gene': 'MXI1', 'score': 7.88}, {'connected_gene': 'GC10P110318', 'score': 0.44}, {'connected_gene': 'HMGB3P5', 'score': 0.13}]
chr10 GH10I110079 110079770 110084781 1.56 [{'connected_gene': 'ADD3', 'score': 13.79}, {'connected_gene': 'MXI1', 'score': 5.95}, {'connected_gene': 'SMNDC1', 'score': 3.29}, {'connected_gene': 'SNRPGP12', 'score': 0.22}, {'connected_gene': 'GC10M110016', 'score': 0.2}, {'connected_gene': 'GC10M110015', 'score': 0.2}]
chr10 GH10I110073 110073712 110079399 1.63 [{'connected_gene': 'ADD3', 'score': 13.16}, {'connected_gene': 'MXI1', 'score': 10.96}, {'connected_gene': 'SMNDC1', 'score': 3.94}, {'connected_gene': 'SNRPGP12', 'score': 0.21}, {'connected_gene': 'GC10M110016', 'score': 0.21}, {'connected_gene': 'GC10M110015', 'score': 0.21}]
chr10 GH10I110170 110170201 110170800 0.43 [{'connected_gene': 'ADD3', 'score': 7.29}, {'connected_gene': 'LOC105378479', 'score': 0.77}, {'connected_gene': 'MXI1', 'score': 0.28}]
chr10 GH10I110176 110176201 110176600 0.2 [{'connected_gene': 'ADD3', 'score': 6.97}, {'connected_gene': 'LOC105378479', 'score': 0.44}, {'connected_gene': 'MXI1', 'score': 0.29}]
chr10 GH10I109980 109980745 109983260 1.39 [{'connected_gene': 'ADD3', 'score': 15.13}, {'connected_gene': 'ADD3-AS1', 'score': 12.07}, {'connected_gene': 'MXI1', 'score': 1.99}, {'connected_gene': 'XPNPEP1', 'score': 0.22}]
chr10 GH10I110175 110175503 110175652 0.2 [{'connected_gene': 'LOC105378479', 'score': 0.44}, {'connected_gene': 'MXI1', 'score': 0.29}]
chr10 GH10I110169 110169203 110169352 0.63 [{'connected_gene': 'LOC105378479', 'score': 550.77}, {'connected_gene': 'MXI1', 'score': 0.28}]
chr10 GH10I110171 110171001 110171200 0.2 [{'connected_gene': 'LOC105378479', 'score': 0.77}, {'connected_gene': 'MXI1', 'score': 0.28}]
chr10 GH10I110172 110169003 110169132 0.65 [{'connected_gene': 'LOC105378479', 'score': 550.77}, {'connected_gene': 'ADD3', 'score': 10.71}, {'connected_gene': 'MXI1', 'score': 0.28}]
chr10 GH10I110275 110275283 110275432 0.74 [{'connected_gene': 'SMNDC1', 'score': 11.74}, {'connected_gene': 'MXI1', 'score': 11.68}, {'connected_gene': 'ENSG00000228417', 'score': 11.68}, {'connected_gene': 'DUSP5', 'score': 10.3}, {'connected_gene': 'ENSG00000214067', 'score': 0.37}]
chr10 GH10I110203 110203136 110204854 0.69 [{'connected_gene': 'SMNDC1', 'score': 10.44}, {'connected_gene': 'MXI1', 'score': 5.97}, {'connected_gene': 'ADD3', 'score': 5.41}, {'connected_gene': 'LOC105378479', 'score': 0.28}]
chr10 GH10I110218 110218290 110219132 0.2 [{'connected_gene': 'SMNDC1', 'score': 10.42}, {'connected_gene': 'MXI1', 'score': 5.49}, {'connected_gene': 'LOC105378480', 'score': 0.77}, {'connected_gene': 'ENSG00000228417', 'score': 0.39}]
chr10 GH10I110213 110213601 110213800 0.51 [{'connected_gene': 'SMNDC1', 'score': 10.41}, {'connected_gene': 'MXI1', 'score': 0.44}, {'connected_gene': 'LOC105378480', 'score': 0.44}, {'connected_gene': 'ENSG00000228417', 'score': 0.44}]
chr10 GH10I110241 110241324 110242251 0.43 [{'connected_gene': 'SMNDC1', 'score': 10.79}, {'connected_gene': 'MXI1', 'score': 5.47}, {'connected_gene': 'ENSG00000214067', 'score': 0.37}, {'connected_gene': 'PIR57221', 'score': 0.37}]
chr10 GH10I110303 110303177 110306715 2.01 [{'connected_gene': 'SMNDC1', 'score': 550.77}, {'connected_gene': 'MXI1', 'score': 10.17}, {'connected_gene': 'ENSG00000214067', 'score': 0.25}]
chr10 GH10I110219 110219963 110220409 0.52 [{'connected_gene': 'SMNDC1', 'score': 10.43}, {'connected_gene': 'ADD3', 'score': 4.24}, {'connected_gene': 'LOC105378480', 'score': 0.77}, {'connected_gene': 'MXI1', 'score': 0.39}, {'connected_gene': 'ENSG00000228417', 'score': 0.39}]
chr10 GH10I110231 110231596 110234555 0.38 [{'connected_gene': 'ENSG00000228417', 'score': 11.91}, {'connected_gene': 'MXI1', 'score': 11.89}, {'connected_gene': 'SMNDC1', 'score': 11.28}, {'connected_gene': 'ADD3', 'score': 4.03}, {'connected_gene': 'PIR57221', 'score': 0.44}, {'connected_gene': 'ENSG00000214067', 'score': 0.34}]

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