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
ENST00000476320 [[34214156, 34214645], [34214820, 34214926], [34215243, 34215269], [34215457, 34215641], [34216755, 34217247]] [[34214290, 34214645], [34214820, 34214926], [34215243, 34215262]]
ENST00000481533 [[34214171, 34214645], [34214820, 34214926], [34215243, 34215269], [34215457, 34215641], [34216503, 34216766]] [[34214290, 34214645], [34214820, 34214926], [34215243, 34215262]]
ENST00000413013 [[34214171, 34214645], [34214820, 34214926], [34215457, 34215641], [34216755, 34216797]] [[34214290, 34214645], [34214820, 34214885]]
ENST00000394990 [[34214171, 34214645], [34214820, 34214926], [34215243, 34215269], [34215517, 34215641], [34216755, 34216817]] [[34214290, 34214645], [34214820, 34214926], [34215243, 34215262]]
ENST00000335352 [[34214171, 34214645], [34214820, 34214926], [34215457, 34215641], [34216503, 34216832]] [[34214290, 34214645], [34214820, 34214885]]
ENST00000463083 [[34214225, 34215269], [34215457, 34215641], [34216503, 34216762]] None
ENST00000468145 [[34214261, 34214645], [34214820, 34214926], [34215243, 34215269], [34215517, 34215641], [34216503, 34216766]] [[34214290, 34214645], [34214820, 34214926], [34215243, 34215262]]
ENST00000495581 [[34214806, 34215641], [34216755, 34216831]] None
Promoter
Chrom Start End Description
chr6 34216771 34216856 CAGE_peak_1_at_C6orf1_5end
chr6 34216887 34216890 CAGE_peak_2_at_C6orf1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I034072 34072630 34076591 0.83 [{'connected_gene': 'TAF11', 'score': 102.91}, {'connected_gene': 'LEMD2', 'score': 99.1}, {'connected_gene': 'HCG25', 'score': 78.71}, {'connected_gene': 'RING1', 'score': 68.29}, {'connected_gene': 'VPS52', 'score': 60.2}, {'connected_gene': 'DAXX', 'score': 55.91}, {'connected_gene': 'RXRB', 'score': 48.07}, {'connected_gene': 'WDR46', 'score': 47.59}, {'connected_gene': 'RGL2', 'score': 35.92}, {'connected_gene': 'RPS10', 'score': 21.97}, {'connected_gene': 'SYNGAP1', 'score': 18.86}, {'connected_gene': 'LOC105375022', 'score': 12.23}, {'connected_gene': 'ITPR3', 'score': 11.79}, {'connected_gene': 'SMIM29', 'score': 11.65}, {'connected_gene': 'B3GALT4', 'score': 11.63}, {'connected_gene': 'PHF1', 'score': 11.59}, {'connected_gene': 'MIR1275', 'score': 10.89}, {'connected_gene': 'RPS18', 'score': 10.88}, {'connected_gene': 'RPL35P2', 'score': 10.65}, {'connected_gene': 'RNY4P10', 'score': 10.56}, {'connected_gene': 'SLC39A7', 'score': 10.23}, {'connected_gene': 'NUDT3', 'score': 10.18}, {'connected_gene': 'ZBTB9', 'score': 9.85}, {'connected_gene': 'KIFC1', 'score': 9.69}, {'connected_gene': 'HSD17B8', 'score': 5.5}, {'connected_gene': 'PIR53321', 'score': 0.22}, {'connected_gene': 'GRM4', 'score': 0.18}]
chr6 GH06I034263 34263401 34263800 0.68 [{'connected_gene': 'RPL35P2', 'score': 550.77}, {'connected_gene': 'SMIM29', 'score': 0.39}, {'connected_gene': 'ENSG00000225339', 'score': 0.37}]
chr6 GH06I034223 34223086 34225788 1.8 [{'connected_gene': 'RPS10', 'score': 47.37}, {'connected_gene': 'VPS52', 'score': 45.75}, {'connected_gene': 'TAF11', 'score': 44.8}, {'connected_gene': 'DAXX', 'score': 44.63}, {'connected_gene': 'LEMD2', 'score': 43.39}, {'connected_gene': 'WDR46', 'score': 35.89}, {'connected_gene': 'ITPR3', 'score': 24.56}, {'connected_gene': 'RGL2', 'score': 23.88}, {'connected_gene': 'KIFC1', 'score': 21.13}, {'connected_gene': 'HCG25', 'score': 19.38}, {'connected_gene': 'RPL35P2', 'score': 12.61}, {'connected_gene': 'B3GALT4', 'score': 11.38}, {'connected_gene': 'RPS18', 'score': 10.87}, {'connected_gene': 'NUDT3', 'score': 5.23}, {'connected_gene': 'HMGA1', 'score': 5.22}, {'connected_gene': 'SMIM29', 'score': 1.41}, {'connected_gene': 'CYCSP55', 'score': 0.44}, {'connected_gene': 'GC06M038609', 'score': 0.44}, {'connected_gene': 'PIR48064', 'score': 0.44}]
chr6 GH06I034068 34068284 34072572 0.86 [{'connected_gene': 'RING1', 'score': 88.88}, {'connected_gene': 'TAF11', 'score': 83.75}, {'connected_gene': 'HCG25', 'score': 73.23}, {'connected_gene': 'LEMD2', 'score': 68.71}, {'connected_gene': 'VPS52', 'score': 60.29}, {'connected_gene': 'RXRB', 'score': 48.26}, {'connected_gene': 'DAXX', 'score': 43.32}, {'connected_gene': 'PHF1', 'score': 29.53}, {'connected_gene': 'ITPR3', 'score': 24.57}, {'connected_gene': 'KIFC1', 'score': 21.13}, {'connected_gene': 'WDR46', 'score': 20.77}, {'connected_gene': 'RPS10', 'score': 20.14}, {'connected_gene': 'SYNGAP1', 'score': 18.86}, {'connected_gene': 'RGL2', 'score': 13.73}, {'connected_gene': 'LOC105375022', 'score': 12.23}, {'connected_gene': 'SMIM29', 'score': 11.65}, {'connected_gene': 'B3GALT4', 'score': 11.39}, {'connected_gene': 'SLC39A7', 'score': 10.36}, {'connected_gene': 'NUDT3', 'score': 10.18}, {'connected_gene': 'ZBTB9', 'score': 9.85}, {'connected_gene': 'HSD17B8', 'score': 4.92}, {'connected_gene': 'PIR53321', 'score': 0.23}, {'connected_gene': 'GRM4', 'score': 0.17}]
chr6 GH06I033430 33430170 33434669 1.36 [{'connected_gene': 'RING1', 'score': 48.34}, {'connected_gene': 'HCG25', 'score': 39.8}, {'connected_gene': 'ZBTB9', 'score': 31.51}, {'connected_gene': 'DAXX', 'score': 25.05}, {'connected_gene': 'PHF1', 'score': 22.64}, {'connected_gene': 'SYNGAP1', 'score': 19.36}, {'connected_gene': 'LOC105375022', 'score': 12.29}, {'connected_gene': 'LEMD2', 'score': 12.04}, {'connected_gene': 'VPS52', 'score': 11.82}, {'connected_gene': 'SMIM29', 'score': 11.58}, {'connected_gene': 'KIFC1', 'score': 10.99}, {'connected_gene': 'RPL35AP4', 'score': 10.94}, {'connected_gene': 'RXRB', 'score': 10.49}, {'connected_gene': 'HLA-DMA', 'score': 10.22}, {'connected_gene': 'NUDT3', 'score': 10.15}, {'connected_gene': 'CUTA', 'score': 10.11}, {'connected_gene': 'BRD2', 'score': 9.79}, {'connected_gene': 'BAK1', 'score': 9.02}, {'connected_gene': 'HLA-DPB1', 'score': 8.05}, {'connected_gene': 'ITPR3', 'score': 7.5}, {'connected_gene': 'TAPBP', 'score': 5.46}, {'connected_gene': 'MIR5004', 'score': 0.44}]
chr6 GH06I034670 34670137 34676478 1.46 [{'connected_gene': 'UHRF1BP1', 'score': 56.59}, {'connected_gene': 'SMIM29', 'score': 11.6}, {'connected_gene': 'GC06M038178', 'score': 0.39}, {'connected_gene': 'RN7SL200P', 'score': 0.39}, {'connected_gene': 'C6orf106', 'score': 0.34}, {'connected_gene': 'GC06P042392', 'score': 0.22}]
chr2 GH02I030221 30221422 30227674 1.47 [{'connected_gene': 'YPEL5', 'score': 6.03}, {'connected_gene': 'LBH', 'score': 5.09}, {'connected_gene': 'ENSG00000231712', 'score': 0.39}]
chr2 GH02I030145 30145075 30150816 2.52 [{'connected_gene': 'YPEL5', 'score': 558.22}, {'connected_gene': 'LOC101929418', 'score': 550.77}, {'connected_gene': 'LBH', 'score': 1.62}, {'connected_gene': 'PIR52638', 'score': 0.44}]
chr2 GH02I030421 30421009 30423776 1.32 [{'connected_gene': 'LCLAT1', 'score': 7.49}, {'connected_gene': 'LBH', 'score': 1.49}, {'connected_gene': 'ENSG00000280154', 'score': 0.39}]
chr6 GH06I034226 34226217 34230268 1.16 [{'connected_gene': 'SMIM29', 'score': 6.55}, {'connected_gene': 'RPS10', 'score': 6.18}, {'connected_gene': 'PIR48064', 'score': 0.77}, {'connected_gene': 'CYCSP55', 'score': 0.44}, {'connected_gene': 'GC06M038609', 'score': 0.44}]
chr2 GH02I030450 30450035 30450184 0.31 [{'connected_gene': 'LBH', 'score': 10.84}, {'connected_gene': 'LCLAT1', 'score': 0.77}, {'connected_gene': 'GC02M030646', 'score': 0.08}]
chr2 GH02I030230 30230316 30241222 2.66 [{'connected_gene': 'LBH', 'score': 551.9}, {'connected_gene': 'SNORA10B', 'score': 11.65}, {'connected_gene': 'YPEL5', 'score': 2.99}, {'connected_gene': 'GC02P030258', 'score': 0.34}]
chr2 GH02I030407 30407332 30414472 1.22 [{'connected_gene': 'LBH', 'score': 18.5}, {'connected_gene': 'SNORA10B', 'score': 10.45}, {'connected_gene': 'LCLAT1', 'score': 7.3}, {'connected_gene': 'LINC01936', 'score': 5.5}, {'connected_gene': 'YPEL5', 'score': 2.58}, {'connected_gene': 'ENSG00000280154', 'score': 0.77}]
chr2 GH02I030295 30295721 30299346 0.49 [{'connected_gene': 'LBH', 'score': 16.81}, {'connected_gene': 'SNORA10B', 'score': 10.97}, {'connected_gene': 'LOC102723594', 'score': 0.77}, {'connected_gene': 'GC02P030258', 'score': 0.28}]
chr2 GH02I030286 30286990 30291392 1.38 [{'connected_gene': 'LBH', 'score': 20.4}, {'connected_gene': 'SNORA10B', 'score': 10.71}, {'connected_gene': 'LOC102723594', 'score': 0.39}, {'connected_gene': 'GC02P030258', 'score': 0.29}]
chr2 GH02I030304 30304686 30306268 0.38 [{'connected_gene': 'LBH', 'score': 11.41}, {'connected_gene': 'SNORA10B', 'score': 10.96}, {'connected_gene': 'LOC102723594', 'score': 0.77}, {'connected_gene': 'LINC01936', 'score': 0.26}]
chr2 GH02I030202 30202000 30202201 0.51 [{'connected_gene': 'LBH', 'score': 11.58}, {'connected_gene': 'ENSG00000231712', 'score': 0.44}, {'connected_gene': 'LOC105374414', 'score': 0.39}]
chr2 GH02I030178 30178735 30179201 0.79 [{'connected_gene': 'LBH', 'score': 10.98}, {'connected_gene': 'GC02P030189', 'score': 0.44}, {'connected_gene': 'LOC105374414', 'score': 0.39}, {'connected_gene': 'PIR52638', 'score': 0.34}]
chr2 GH02I030269 30269490 30270705 0.38 [{'connected_gene': 'LBH', 'score': 7.22}, {'connected_gene': 'GC02P030258', 'score': 0.39}, {'connected_gene': 'LOC102723594', 'score': 0.29}]
chr2 GH02I030292 30292001 30295363 1.03 [{'connected_gene': 'LBH', 'score': 8.59}, {'connected_gene': 'LOC102723594', 'score': 0.44}, {'connected_gene': 'GC02P030258', 'score': 0.28}]
chr2 GH02I030283 30283675 30284073 0.79 [{'connected_gene': 'LBH', 'score': 6.01}, {'connected_gene': 'LOC102723594', 'score': 0.37}, {'connected_gene': 'GC02P030258', 'score': 0.31}]
chr2 GH02I030272 30272588 30275691 1.27 [{'connected_gene': 'LBH', 'score': 8.05}, {'connected_gene': 'GC02P030258', 'score': 0.37}, {'connected_gene': 'LOC102723594', 'score': 0.31}]
chr2 GH02I030261 30261380 30263743 0.56 [{'connected_gene': 'LBH', 'score': 9.32}, {'connected_gene': 'GC02P030258', 'score': 0.77}, {'connected_gene': 'LOC102723594', 'score': 0.28}]
chr2 GH02I030280 30280835 30280984 0.4 [{'connected_gene': 'LBH', 'score': 5.49}, {'connected_gene': 'LOC102723594', 'score': 0.37}, {'connected_gene': 'GC02P030258', 'score': 0.34}]
chr2 GH02I030276 30276495 30278179 0.52 [{'connected_gene': 'LBH', 'score': 8.29}, {'connected_gene': 'GC02P030258', 'score': 0.37}, {'connected_gene': 'LOC102723594', 'score': 0.34}]
chr6 GH06I034233 34233696 34250816 2.54 [{'connected_gene': 'SMIM29', 'score': 556.87}, {'connected_gene': 'MIR6835', 'score': 550.77}, {'connected_gene': 'HMGA1', 'score': 550.44}, {'connected_gene': 'LEMD2', 'score': 68.2}, {'connected_gene': 'DAXX', 'score': 54.04}, {'connected_gene': 'WDR46', 'score': 52.67}, {'connected_gene': 'VPS52', 'score': 50.33}, {'connected_gene': 'TAF11', 'score': 39.83}, {'connected_gene': 'RGL2', 'score': 39.02}, {'connected_gene': 'HCG25', 'score': 34.17}, {'connected_gene': 'RPS10', 'score': 31.2}, {'connected_gene': 'RPS18', 'score': 18.03}, {'connected_gene': 'ZBTB22', 'score': 11.7}, {'connected_gene': 'RPL35P2', 'score': 10.9}, {'connected_gene': 'SYNGAP1', 'score': 10.14}, {'connected_gene': 'ITPR3', 'score': 9.91}, {'connected_gene': 'ENSG00000225339', 'score': 0.44}]
chr2 GH02I030403 30403081 30405405 0.58 [{'connected_gene': 'LBH', 'score': 11.15}, {'connected_gene': 'LINC01936', 'score': 5.48}, {'connected_gene': 'ENSG00000280154', 'score': 0.77}]
chr2 GH02I030228 30228930 30228941 0.42 [{'connected_gene': 'LBH', 'score': 0.77}, {'connected_gene': 'ENSG00000231712', 'score': 0.37}]
chr2 GH02I030220 30220648 30220985 0.2 [{'connected_gene': 'LBH', 'score': 0.39}, {'connected_gene': 'ENSG00000231712', 'score': 0.39}]
chr2 GH02I030250 30250345 30260662 1.43 [{'connected_gene': 'LBH', 'score': 11.87}, {'connected_gene': 'GC02P030258', 'score': 0.77}]
chr6 GH06I033423 33423991 33429979 2.07 [{'connected_gene': 'DAXX', 'score': 51.56}, {'connected_gene': 'LEMD2', 'score': 41.39}, {'connected_gene': 'BRD2', 'score': 37.28}, {'connected_gene': 'WDR46', 'score': 30.94}, {'connected_gene': 'RXRB', 'score': 26.96}, {'connected_gene': 'VPS52', 'score': 25.56}, {'connected_gene': 'RGL2', 'score': 23.52}, {'connected_gene': 'SYNGAP1', 'score': 23.26}, {'connected_gene': 'KIFC1', 'score': 21.57}, {'connected_gene': 'RPS10', 'score': 11.8}, {'connected_gene': 'ZBTB9', 'score': 11.67}, {'connected_gene': 'SMIM29', 'score': 11.58}, {'connected_gene': 'RPL35AP4', 'score': 11.45}, {'connected_gene': 'HCG25', 'score': 11.07}, {'connected_gene': 'CUTA', 'score': 10.58}, {'connected_gene': 'NUDT3', 'score': 10.15}, {'connected_gene': 'B3GALT4', 'score': 10.11}, {'connected_gene': 'RPS18', 'score': 9.98}, {'connected_gene': 'ITPR3', 'score': 9.97}, {'connected_gene': 'BAK1', 'score': 9.01}, {'connected_gene': 'MIR5004', 'score': 0.39}]
chr6 GH06I033824 33824599 33824800 0.89 [{'connected_gene': 'IP6K3', 'score': 8.1}, {'connected_gene': 'CUTA', 'score': 1.8}, {'connected_gene': 'SMIM29', 'score': 1.25}, {'connected_gene': 'LOC105375025', 'score': 0.77}, {'connected_gene': 'PIRC26', 'score': 0.29}]
chr2 GH02I030332 30332498 30339970 1.5 [{'connected_gene': 'SNORA10B', 'score': 10.64}, {'connected_gene': 'YPEL5', 'score': 7.34}, {'connected_gene': 'LBH', 'score': 4.65}, {'connected_gene': 'LINC01936', 'score': 0.39}, {'connected_gene': 'LOC102723594', 'score': 0.28}]
chr2 GH02I030264 30264184 30268600 1.33 [{'connected_gene': 'SNORA10B', 'score': 10.77}, {'connected_gene': 'LBH', 'score': 10.52}, {'connected_gene': 'YPEL5', 'score': 9.79}, {'connected_gene': 'GC02P030258', 'score': 0.44}, {'connected_gene': 'LOC102723594', 'score': 0.29}]
chr2 GH02I030242 30242372 30245021 0.31 [{'connected_gene': 'SNORA10B', 'score': 11.63}, {'connected_gene': 'LBH', 'score': 5.81}, {'connected_gene': 'GC02P030258', 'score': 0.39}]
chr2 GH02I030245 30245276 30246213 0.2 [{'connected_gene': 'SNORA10B', 'score': 11.63}, {'connected_gene': 'LBH', 'score': 9.32}, {'connected_gene': 'GC02P030258', 'score': 0.39}]
chr2 GH02I030247 30247448 30250309 0.31 [{'connected_gene': 'SNORA10B', 'score': 11.61}, {'connected_gene': 'LBH', 'score': 10.2}, {'connected_gene': 'GC02P030258', 'score': 0.44}]
chr2 GH02I030217 30216195 30216344 0.2 [{'connected_gene': 'SNORA10B', 'score': 12.09}, {'connected_gene': 'ENSG00000231712', 'score': 0.44}, {'connected_gene': 'LBH', 'score': 0.37}]
chr2 GH02I030213 30213137 30214053 0.38 [{'connected_gene': 'SNORA10B', 'score': 12.09}, {'connected_gene': 'ENSG00000231712', 'score': 0.77}, {'connected_gene': 'LBH', 'score': 0.37}]
chr2 GH02I030214 30214465 30215090 0.2 [{'connected_gene': 'SNORA10B', 'score': 12.09}, {'connected_gene': 'ENSG00000231712', 'score': 0.77}, {'connected_gene': 'LBH', 'score': 0.37}]
chr2 GH02I030216 30216799 30219564 1.29 [{'connected_gene': 'SNORA10B', 'score': 12.07}, {'connected_gene': 'ENSG00000231712', 'score': 0.44}, {'connected_gene': 'LBH', 'score': 0.39}]
chr2 GH02I030299 30299783 30302750 1.03 [{'connected_gene': 'LOC102723594', 'score': 550.77}, {'connected_gene': 'LBH', 'score': 16.61}, {'connected_gene': 'SNORA10B', 'score': 10.97}, {'connected_gene': 'LINC01936', 'score': 0.25}]
chr2 GH02I030309 30309312 30313393 0.46 [{'connected_gene': 'LOC102723594', 'score': 0.39}, {'connected_gene': 'LINC01936', 'score': 0.28}, {'connected_gene': 'LBH', 'score': 0.18}]
chr2 GH02I030314 30314883 30316143 0.38 [{'connected_gene': 'LOC102723594', 'score': 0.37}, {'connected_gene': 'LINC01936', 'score': 0.29}, {'connected_gene': 'LBH', 'score': 0.18}]
chr2 GH02I030281 30281135 30281284 0.4 [{'connected_gene': 'LOC102723594', 'score': 0.37}, {'connected_gene': 'GC02P030258', 'score': 0.34}, {'connected_gene': 'LBH', 'score': 0.25}]
chr6 GH06I034230 34230931 34231813 0.74 [{'connected_gene': 'PIR48064', 'score': 550.77}, {'connected_gene': 'SMIM29', 'score': 6.64}, {'connected_gene': 'GC06M038609', 'score': 0.77}, {'connected_gene': 'CYCSP55', 'score': 0.39}]
chr2 GH02I030323 30323180 30327373 0.54 [{'connected_gene': 'LINC01936', 'score': 0.34}, {'connected_gene': 'LOC102723594', 'score': 0.34}, {'connected_gene': 'LBH', 'score': 0.16}]

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