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
ENST00000374089 [[27425305, 27427135], [27427693, 27427766], [27428215, 27428317], [27428506, 27428621], [27428875, 27429049], [27429163, 27429234], [27429713, 27430513]] None
ENST00000263980 [[27425305, 27427135], [27427693, 27427766], [27428215, 27428317], [27428506, 27428621], [27428875, 27429049], [27429163, 27429234], [27429713, 27429803], [27432375, 27432578], [27434138, 27434356], [27436017, 27436268], [27440316, 27440777], [27480473, 27481401]] [[27426797, 27427135], [27427693, 27427766], [27428215, 27428317], [27428506, 27428621], [27428875, 27429049], [27429163, 27429234], [27429713, 27429803], [27432375, 27432578], [27434138, 27434356], [27436017, 27436268], [27440316, 27440777], [27480473, 27480825]]
ENST00000490329 [[27425306, 27425495], [27425702, 27426173]] None
ENST00000545949 [[27426577, 27427135], [27427693, 27427766], [27428215, 27428317], [27428506, 27428621], [27428875, 27429049], [27429163, 27429234], [27429713, 27429803], [27432375, 27432578], [27434138, 27434356], [27436017, 27436268], [27480473, 27480973]] [[27426797, 27427135], [27427693, 27427766], [27428215, 27428317], [27428506, 27428621], [27428875, 27429049], [27429163, 27429234], [27429713, 27429803], [27432375, 27432578], [27434138, 27434356], [27436017, 27436064]]
ENST00000447808 [[27426835, 27427135], [27427693, 27427766], [27428215, 27428317], [27428506, 27428621], [27428875, 27429049], [27429163, 27429286]] None
ENST00000374086 [[27431941, 27432578], [27434138, 27434356], [27436017, 27436268], [27440316, 27440777], [27480473, 27481089]] [[27432192, 27432578], [27434138, 27434356], [27436017, 27436268], [27440316, 27440777], [27480473, 27480825]]
ENST00000374084 [[27440723, 27440777], [27480473, 27480852], [27481844, 27481895], [27493261, 27493472]] [[27440723, 27440777], [27480473, 27480825]]
NM_003047 [[27425299, 27427135], [27427693, 27427766], [27428215, 27428317], [27428506, 27428621], [27428875, 27429049], [27429163, 27429234], [27429713, 27429803], [27432375, 27432578], [27434138, 27434356], [27436017, 27436268], [27440316, 27440777], [27480473, 27481621]] [[27426797, 27427135], [27427693, 27427766], [27428215, 27428317], [27428506, 27428621], [27428875, 27429049], [27429163, 27429234], [27429713, 27429803], [27432375, 27432578], [27434138, 27434356], [27436017, 27436268], [27440316, 27440777], [27480473, 27480825]]
NR_046474 [[27425299, 27427135], [27427693, 27427766], [27428215, 27428317], [27428506, 27428621], [27428875, 27429049], [27429163, 27429234], [27429713, 27429803], [27432375, 27432578], [27434138, 27434356], [27436017, 27436268], [27480473, 27481621]] None
Promoter
Chrom Start End Description
chr1 27481609 27481625 CAGE_peak_1_at_SLC9A1_5end
chr1 27481768 27481773 CAGE_peak_4_at_SLC9A1_5end
chr1 27481950 27482009 CAGE_peak_2_at_SLC9A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I026945 26944999 26947598 0.72 [{'connected_gene': 'NR0B2', 'score': 12.51}, {'connected_gene': 'NUDC', 'score': 12.46}, {'connected_gene': 'PIGV', 'score': 11.5}, {'connected_gene': 'GPATCH3', 'score': 10.96}, {'connected_gene': 'ENSG00000226698', 'score': 10.34}, {'connected_gene': 'ACTG1P20', 'score': 9.44}, {'connected_gene': 'RNU6-48P', 'score': 9.44}, {'connected_gene': 'TMEM222', 'score': 9.44}, {'connected_gene': 'LOC105376890', 'score': 9.34}, {'connected_gene': 'WDTC1', 'score': 9.34}, {'connected_gene': 'ARID1A', 'score': 4.3}, {'connected_gene': 'SLC9A1', 'score': 4.09}, {'connected_gene': 'KDF1', 'score': 0.39}]
chr1 GH01I026824 26824092 26830615 2.42 [{'connected_gene': 'ZDHHC18', 'score': 605.8}, {'connected_gene': 'ARID1A', 'score': 25.36}, {'connected_gene': 'HMGN2', 'score': 15.62}, {'connected_gene': 'SFN', 'score': 11.92}, {'connected_gene': 'ACTG1P20', 'score': 11.71}, {'connected_gene': 'WASF2', 'score': 11.65}, {'connected_gene': 'ENSG00000226698', 'score': 11.59}, {'connected_gene': 'GPATCH3', 'score': 11.11}, {'connected_gene': 'NUDC', 'score': 11.11}, {'connected_gene': 'NPM1P39', 'score': 11.07}, {'connected_gene': 'LOC101928324', 'score': 11.0}, {'connected_gene': 'RPL17P9', 'score': 10.85}, {'connected_gene': 'ENSG00000231344', 'score': 9.8}, {'connected_gene': 'TRNP1', 'score': 8.12}, {'connected_gene': 'RPS6KA1', 'score': 7.83}, {'connected_gene': 'WDTC1', 'score': 5.43}, {'connected_gene': 'SLC9A1', 'score': 3.35}, {'connected_gene': 'PIGV', 'score': 2.06}, {'connected_gene': 'GC01P026859', 'score': 0.29}]
chr1 GH01I026830 26830710 26835219 1.66 [{'connected_gene': 'ZDHHC18', 'score': 65.8}, {'connected_gene': 'PIGV', 'score': 27.03}, {'connected_gene': 'SFN', 'score': 12.01}, {'connected_gene': 'ENSG00000226698', 'score': 11.94}, {'connected_gene': 'GPATCH3', 'score': 10.78}, {'connected_gene': 'NUDC', 'score': 10.78}, {'connected_gene': 'RPS6KA1', 'score': 9.95}, {'connected_gene': 'WDTC1', 'score': 7.85}, {'connected_gene': 'LOC101928728', 'score': 7.2}, {'connected_gene': 'OSTCP2', 'score': 4.64}, {'connected_gene': 'SLC9A1', 'score': 4.39}, {'connected_gene': 'ARID1A', 'score': 4.21}, {'connected_gene': 'GC01P026859', 'score': 0.31}]
chr1 GH01I027135 27135569 27139637 1.53 [{'connected_gene': 'ZDHHC18', 'score': 51.97}, {'connected_gene': 'WDTC1', 'score': 21.29}, {'connected_gene': 'LOC105376890', 'score': 11.04}, {'connected_gene': 'SLC9A1', 'score': 10.25}, {'connected_gene': 'TMEM222', 'score': 10.22}, {'connected_gene': 'ACTG1P20', 'score': 10.22}, {'connected_gene': 'RNU6-48P', 'score': 10.22}, {'connected_gene': 'GPATCH3', 'score': 9.61}, {'connected_gene': 'NUDC', 'score': 9.61}, {'connected_gene': 'FGR', 'score': 6.7}, {'connected_gene': 'ARID1A', 'score': 4.59}, {'connected_gene': 'WASF2', 'score': 3.17}, {'connected_gene': 'PIGV', 'score': 2.76}, {'connected_gene': 'LOC102723760', 'score': 0.37}, {'connected_gene': 'GC01P027051', 'score': 0.17}]
chr1 GH01I027128 27128938 27130197 0.38 [{'connected_gene': 'TMEM222', 'score': 10.33}, {'connected_gene': 'ACTG1P20', 'score': 10.33}, {'connected_gene': 'RNU6-48P', 'score': 10.33}, {'connected_gene': 'SLC9A1', 'score': 6.9}, {'connected_gene': 'LOC102723760', 'score': 0.31}, {'connected_gene': 'GC01P027051', 'score': 0.18}]
chr1 GH01I027122 27122102 27123440 1.26 [{'connected_gene': 'TMEM222', 'score': 9.12}, {'connected_gene': 'LOC102723760', 'score': 0.29}, {'connected_gene': 'SLC9A1', 'score': 0.26}, {'connected_gene': 'GC01P027051', 'score': 0.19}]
chr1 GH01I027132 27132001 27134738 1.16 [{'connected_gene': 'TMEM222', 'score': 10.34}, {'connected_gene': 'RNU6-48P', 'score': 10.33}, {'connected_gene': 'ACTG1P20', 'score': 10.33}, {'connected_gene': 'LOC102723760', 'score': 0.34}, {'connected_gene': 'SLC9A1', 'score': 0.29}, {'connected_gene': 'GC01P027051', 'score': 0.18}]
chr1 GH01I027102 27102590 27103000 0.99 [{'connected_gene': 'ARID1A', 'score': 17.35}, {'connected_gene': 'ACTG1P20', 'score': 13.15}, {'connected_gene': 'HMGN2', 'score': 11.0}, {'connected_gene': 'ENSG00000231344', 'score': 10.99}, {'connected_gene': 'RPL17P9', 'score': 10.35}, {'connected_gene': 'LOC101928324', 'score': 10.12}, {'connected_gene': 'GC01P027051', 'score': 0.23}, {'connected_gene': 'LOC102723760', 'score': 0.23}, {'connected_gene': 'SLC9A1', 'score': 0.21}]
chr1 GH01I026691 26690601 26703514 3.32 [{'connected_gene': 'ARID1A', 'score': 632.61}, {'connected_gene': 'LOC101928728', 'score': 580.15}, {'connected_gene': 'HMGN2', 'score': 78.07}, {'connected_gene': 'ACTG1P20', 'score': 43.91}, {'connected_gene': 'PIGV', 'score': 39.6}, {'connected_gene': 'LOC101928324', 'score': 37.34}, {'connected_gene': 'GPN2', 'score': 28.12}, {'connected_gene': 'GPATCH3', 'score': 24.89}, {'connected_gene': 'TMEM222', 'score': 22.69}, {'connected_gene': 'RPL17P9', 'score': 20.91}, {'connected_gene': 'NPM1P39', 'score': 18.08}, {'connected_gene': 'ZNF593', 'score': 13.56}, {'connected_gene': 'SFN', 'score': 10.75}, {'connected_gene': 'AHDC1', 'score': 10.73}, {'connected_gene': 'MAP3K6', 'score': 10.67}, {'connected_gene': 'ENSG00000226698', 'score': 10.59}, {'connected_gene': 'WASF2', 'score': 10.4}, {'connected_gene': 'RPS6KA1', 'score': 10.19}, {'connected_gene': 'NUDC', 'score': 10.07}, {'connected_gene': 'ZDHHC18', 'score': 8.32}, {'connected_gene': 'OSTCP2', 'score': 5.6}, {'connected_gene': 'TRNP1', 'score': 5.12}, {'connected_gene': 'KDF1', 'score': 4.41}, {'connected_gene': 'SLC9A1', 'score': 1.29}, {'connected_gene': 'CEP85', 'score': 1.12}, {'connected_gene': 'GC01M026693', 'score': 0.77}, {'connected_gene': 'LOC105376888', 'score': 0.39}, {'connected_gene': 'GC01P026765', 'score': 0.2}]
chr1 GH01I027151 27151667 27156425 2.32 [{'connected_gene': 'SLC9A1', 'score': 557.59}, {'connected_gene': 'ARID1A', 'score': 105.68}, {'connected_gene': 'ACTG1P20', 'score': 66.48}, {'connected_gene': 'FAM76A', 'score': 57.61}, {'connected_gene': 'HMGN2', 'score': 53.04}, {'connected_gene': 'GPN2', 'score': 45.27}, {'connected_gene': 'ENSG00000231344', 'score': 27.08}, {'connected_gene': 'EYA3', 'score': 26.58}, {'connected_gene': 'LOC101928324', 'score': 24.23}, {'connected_gene': 'LOC101928728', 'score': 22.34}, {'connected_gene': 'GPATCH3', 'score': 20.23}, {'connected_gene': 'MAP3K6', 'score': 12.28}, {'connected_gene': 'PIGV', 'score': 11.96}, {'connected_gene': 'RPL17P9', 'score': 10.7}, {'connected_gene': 'WASF2', 'score': 10.43}, {'connected_gene': 'PPP1R8', 'score': 10.37}, {'connected_gene': 'NPM1P39', 'score': 10.33}, {'connected_gene': 'LOC102723760', 'score': 0.77}, {'connected_gene': 'GC01P027051', 'score': 0.15}]
chr1 GH01I027166 27166086 27167583 0.78 [{'connected_gene': 'SLC9A1', 'score': 557.78}, {'connected_gene': 'LOC102723760', 'score': 0.44}]
chr1 GH01I027161 27161281 27162520 1 [{'connected_gene': 'SLC9A1', 'score': 6.63}, {'connected_gene': 'LOC102723760', 'score': 0.77}]
chr1 GH01I027148 27148038 27150875 0.64 [{'connected_gene': 'SLC9A1', 'score': 6.78}, {'connected_gene': 'LOC102723760', 'score': 0.44}, {'connected_gene': 'GC01P027051', 'score': 0.15}]
chr1 GH01I027110 27110080 27113486 1.3 [{'connected_gene': 'SLC9A1', 'score': 6.98}, {'connected_gene': 'LOC102723760', 'score': 0.25}, {'connected_gene': 'GC01P027051', 'score': 0.21}]
chr1 GH01I027106 27106041 27107224 1.09 [{'connected_gene': 'SLC9A1', 'score': 6.17}, {'connected_gene': 'LOC102723760', 'score': 0.23}, {'connected_gene': 'GC01P027051', 'score': 0.23}]
chr1 GH01I027152 27151001 27151200 0.51 [{'connected_gene': 'SLC9A1', 'score': 7.29}, {'connected_gene': 'LOC102723760', 'score': 0.44}, {'connected_gene': 'GC01P027051', 'score': 0.15}]
chr1 GH01I027098 27098070 27101711 1.39 [{'connected_gene': 'SLC9A1', 'score': 6.62}, {'connected_gene': 'GC01P027051', 'score': 0.25}, {'connected_gene': 'LOC102723760', 'score': 0.22}]
chr1 GH01I027163 27163190 27163399 0.63 [{'connected_gene': 'SLC9A1', 'score': 0.77}, {'connected_gene': 'LOC102723760', 'score': 0.44}]
chr1 GH01I027123 27123458 27125515 0.52 [{'connected_gene': 'ACTG1P20', 'score': 10.54}, {'connected_gene': 'TMEM222', 'score': 10.54}, {'connected_gene': 'RNU6-48P', 'score': 10.54}, {'connected_gene': 'ENSG00000243659', 'score': 10.25}, {'connected_gene': 'SYTL1', 'score': 4.59}, {'connected_gene': 'LOC102723760', 'score': 0.29}, {'connected_gene': 'SLC9A1', 'score': 0.26}, {'connected_gene': 'GC01P027051', 'score': 0.19}]
chr1 GH01I027605 27605802 27611097 1.76 [{'connected_gene': 'ACTG1P20', 'score': 36.82}, {'connected_gene': 'ARID1A', 'score': 35.73}, {'connected_gene': 'TRNAU1AP', 'score': 33.99}, {'connected_gene': 'SNHG12', 'score': 32.16}, {'connected_gene': 'NPM1P39', 'score': 29.85}, {'connected_gene': 'PHACTR4', 'score': 23.29}, {'connected_gene': 'SNORA73B', 'score': 19.8}, {'connected_gene': 'ENSG00000231344', 'score': 19.29}, {'connected_gene': 'MAP3K6', 'score': 13.28}, {'connected_gene': 'WASF2', 'score': 13.25}, {'connected_gene': 'FAM76A', 'score': 12.44}, {'connected_gene': 'AHDC1', 'score': 11.87}, {'connected_gene': 'RCC1', 'score': 10.85}, {'connected_gene': 'LOC101928728', 'score': 10.78}, {'connected_gene': 'RAB42', 'score': 10.6}, {'connected_gene': 'DNAJC8', 'score': 10.3}, {'connected_gene': 'SNHG3', 'score': 10.2}, {'connected_gene': 'GPN2', 'score': 10.19}, {'connected_gene': 'EYA3', 'score': 10.17}, {'connected_gene': 'FAM46B', 'score': 10.1}, {'connected_gene': 'FGR', 'score': 7.95}, {'connected_gene': 'THEMIS2', 'score': 4.37}, {'connected_gene': 'SLC9A1', 'score': 1.67}, {'connected_gene': 'XKR8', 'score': 1.54}, {'connected_gene': 'SYTL1', 'score': 1.35}]
chr1 GH01I027114 27114202 27120799 1.34 [{'connected_gene': 'ACTG1P20', 'score': 43.73}, {'connected_gene': 'FAM76A', 'score': 31.89}, {'connected_gene': 'ZNF593', 'score': 28.06}, {'connected_gene': 'PPP1R8', 'score': 23.16}, {'connected_gene': 'NPM1P39', 'score': 18.22}, {'connected_gene': 'GPN2', 'score': 14.23}, {'connected_gene': 'AHDC1', 'score': 11.14}, {'connected_gene': 'EYA3', 'score': 10.12}, {'connected_gene': 'TMEM222', 'score': 7.76}, {'connected_gene': 'SLC9A1', 'score': 6.51}, {'connected_gene': 'LOC102723760', 'score': 0.26}, {'connected_gene': 'GC01P027051', 'score': 0.2}]
chr1 GH01I026782 26782546 26791746 2.55 [{'connected_gene': 'PIGV', 'score': 565.31}, {'connected_gene': 'ARID1A', 'score': 70.91}, {'connected_gene': 'HMGN2', 'score': 50.83}, {'connected_gene': 'ACTG1P20', 'score': 38.44}, {'connected_gene': 'GPN2', 'score': 33.78}, {'connected_gene': 'LOC101928324', 'score': 30.46}, {'connected_gene': 'ENSG00000231344', 'score': 28.14}, {'connected_gene': 'GPATCH3', 'score': 22.02}, {'connected_gene': 'RPL17P9', 'score': 20.53}, {'connected_gene': 'FAM76A', 'score': 18.62}, {'connected_gene': 'RPS6KA1', 'score': 15.61}, {'connected_gene': 'ZDHHC18', 'score': 15.25}, {'connected_gene': 'LOC101928728', 'score': 11.82}, {'connected_gene': 'ENSG00000226698', 'score': 11.38}, {'connected_gene': 'SFN', 'score': 11.29}, {'connected_gene': 'MAP3K6', 'score': 10.79}, {'connected_gene': 'MIR1976', 'score': 10.74}, {'connected_gene': 'NUDC', 'score': 10.62}, {'connected_gene': 'WASF2', 'score': 10.4}, {'connected_gene': 'WDTC1', 'score': 8.88}, {'connected_gene': 'ZNF683', 'score': 2.01}, {'connected_gene': 'SLC9A1', 'score': 1.11}, {'connected_gene': 'GC01P026765', 'score': 0.34}]
chr1 GH01I027140 27140252 27147025 1.3 [{'connected_gene': 'WDTC1', 'score': 14.7}, {'connected_gene': 'LOC105376890', 'score': 10.6}, {'connected_gene': 'TMEM222', 'score': 10.17}, {'connected_gene': 'ACTG1P20', 'score': 10.16}, {'connected_gene': 'RNU6-48P', 'score': 10.16}, {'connected_gene': 'GPATCH3', 'score': 9.34}, {'connected_gene': 'NUDC', 'score': 9.34}, {'connected_gene': 'SLC9A1', 'score': 8.62}, {'connected_gene': 'LOC102723760', 'score': 0.39}, {'connected_gene': 'GC01P027051', 'score': 0.16}]
chr1 GH01I027127 27127215 27128600 0.38 [{'connected_gene': 'WDTC1', 'score': 14.91}, {'connected_gene': 'LOC105376890', 'score': 10.87}, {'connected_gene': 'TMEM222', 'score': 10.33}, {'connected_gene': 'RNU6-48P', 'score': 10.33}, {'connected_gene': 'ACTG1P20', 'score': 10.33}, {'connected_gene': 'SLC9A1', 'score': 6.91}, {'connected_gene': 'LOC102723760', 'score': 0.31}, {'connected_gene': 'GC01P027051', 'score': 0.18}]
chr1 GH01I027614 27614139 27637536 2.72 [{'connected_gene': 'FGR', 'score': 579.49}, {'connected_gene': 'ACTG1P20', 'score': 43.35}, {'connected_gene': 'ARID1A', 'score': 27.33}, {'connected_gene': 'EYA3', 'score': 25.18}, {'connected_gene': 'FAM76A', 'score': 22.52}, {'connected_gene': 'TRNAU1AP', 'score': 21.88}, {'connected_gene': 'NPM1P39', 'score': 21.49}, {'connected_gene': 'THEMIS2', 'score': 17.55}, {'connected_gene': 'PTAFR', 'score': 15.09}, {'connected_gene': 'SNHG12', 'score': 14.88}, {'connected_gene': 'GPN2', 'score': 14.19}, {'connected_gene': 'WASF2', 'score': 14.05}, {'connected_gene': 'PHACTR4', 'score': 13.71}, {'connected_gene': 'MAP3K6', 'score': 13.28}, {'connected_gene': 'ENSG00000225886', 'score': 12.23}, {'connected_gene': 'AHDC1', 'score': 11.44}, {'connected_gene': 'ENSG00000231344', 'score': 11.0}, {'connected_gene': 'RCC1', 'score': 10.85}, {'connected_gene': 'GPATCH3', 'score': 10.84}, {'connected_gene': 'RAB42', 'score': 10.6}, {'connected_gene': 'SNORA73B', 'score': 10.41}, {'connected_gene': 'XKR8', 'score': 10.31}, {'connected_gene': 'RNU6-48P', 'score': 10.19}, {'connected_gene': 'TMEM222', 'score': 10.19}, {'connected_gene': 'FAM46B', 'score': 10.1}, {'connected_gene': 'RPA2', 'score': 5.06}, {'connected_gene': 'SYTL1', 'score': 4.28}, {'connected_gene': 'STX12', 'score': 4.12}, {'connected_gene': 'SLC9A1', 'score': 1.65}]
chr1 GH01I027121 27121299 27121902 0.38 [{'connected_gene': 'LOC102723760', 'score': 0.28}, {'connected_gene': 'SLC9A1', 'score': 0.25}, {'connected_gene': 'GC01P027051', 'score': 0.2}]
chr1 GH01I027159 27159468 27160562 0.31 [{'connected_gene': 'LOC102723760', 'score': 0.77}, {'connected_gene': 'SLC9A1', 'score': 0.44}]
chr1 GH01I027156 27156867 27157926 0.84 [{'connected_gene': 'LOC102723760', 'score': 550.77}, {'connected_gene': 'SLC9A1', 'score': 0.44}, {'connected_gene': 'GC01P027051', 'score': 0.14}]
chr1 GH01I027130 27130303 27131482 0.71 [{'connected_gene': 'RNU6-48P', 'score': 10.33}, {'connected_gene': 'TMEM222', 'score': 10.33}, {'connected_gene': 'ACTG1P20', 'score': 10.33}, {'connected_gene': 'LOC102723760', 'score': 0.31}, {'connected_gene': 'SLC9A1', 'score': 0.28}, {'connected_gene': 'GC01P027051', 'score': 0.18}]

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