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
ENST00000399932 [[284544, 284856], [299547, 299653], [304379, 304680], [309481, 309598], [309967, 310159], [311382, 311513], [312091, 312224], [312422, 312552], [313260, 313401], [313698, 313774], [314014, 314170], [314612, 314715], [314809, 316124]] [[304412, 304680], [309481, 309598], [309967, 310159], [311382, 311513], [312091, 312224], [312422, 312552], [313260, 313401], [313698, 313774], [314014, 314170], [314612, 314715], [314809, 315021]]
ENST00000301679 [[284800, 284856], [299547, 299653], [304379, 304680], [309481, 309598], [309967, 310159], [311382, 311513], [312091, 312224], [312422, 312552], [313260, 313401], [313698, 313774], [314014, 314170], [314612, 314715], [314809, 314907], [318774, 318970]] [[304412, 304680], [309481, 309598], [309967, 310159], [311382, 311513], [312091, 312224], [312422, 312552], [313260, 313401], [313698, 313774], [314014, 314170], [314612, 314715], [314809, 314907], [318774, 318852]]
ENST00000419173 [[284816, 284856], [299547, 299653], [303831, 303928], [304379, 304680], [309481, 309520]] [[304412, 304680], [309481, 309520]]
ENST00000426695 [[284825, 284856], [299547, 299653], [304327, 304564]] [[304412, 304564]]
ENST00000438220 [[284827, 284856], [299547, 299653], [304386, 304680], [309481, 309598], [309994, 310002]] [[304412, 304680], [309481, 309598], [309994, 310002]]
ENST00000447499 [[284828, 284856], [299547, 299657], [304379, 304673]] [[304412, 304673]]
ENST00000453430 [[284832, 284856], [296955, 297068], [299547, 299653], [304379, 304680], [309481, 309598], [309967, 310159], [311382, 311513]] [[304412, 304680], [309481, 309598], [309967, 310159], [311382, 311513]]
ENST00000442458 [[284833, 284856], [299547, 299653], [304379, 304680], [309481, 309598], [309967, 310159], [311382, 311513], [312091, 312224], [312422, 312552], [313260, 313401], [313698, 313774], [314014, 314170], [314612, 314715], [318774, 319004], [319518, 319942]] [[304412, 304680], [309481, 309598], [309967, 310159], [311382, 311513], [312091, 312224], [312422, 312552], [313260, 313401], [313698, 313774], [314014, 314170], [314612, 314715], [318774, 318923]]
ENST00000449945 [[284836, 284856], [299547, 299653], [304379, 304680], [309481, 309598], [309994, 310159], [311382, 311513], [312091, 312138]] [[304412, 304680], [309481, 309598], [309994, 310159], [311382, 311513], [312091, 312138]]
ENST00000420046 [[284842, 284856], [298242, 298396], [299547, 299653], [304379, 304680], [309481, 309598], [309967, 310159], [311382, 311504]] [[304412, 304680], [309481, 309598], [309967, 310159], [311382, 311504]]
ENST00000301678 [[284844, 284856], [299547, 299653], [304386, 304680], [309481, 309598], [309967, 310159], [311382, 311513], [312091, 312224], [312422, 312552], [313260, 313401], [313698, 313774], [314014, 314170], [314612, 314715], [314809, 316119]] [[304412, 304680], [309481, 309598], [309967, 310159], [311382, 311513], [312091, 312224], [312422, 312552], [313260, 313401], [313698, 313774], [314014, 314170], [314612, 314715], [314809, 315021]]
ENST00000450082 [[284844, 284856], [299547, 299653], [304386, 304680], [309481, 309598], [309967, 310159], [311382, 311513], [312091, 312224], [312422, 312552], [313260, 313401], [313698, 313774], [314014, 314170], [314612, 314715], [314809, 314907], [318774, 318852]] [[304412, 304680], [309481, 309598], [309967, 310159], [311382, 311513], [312091, 312224], [312422, 312552], [313260, 313401], [313698, 313774], [314014, 314170], [314612, 314715], [314809, 314907], [318774, 318852]]
ENST00000420500 [[284845, 284856], [299547, 299653], [304379, 304680], [309967, 310008]] [[304412, 304680], [309967, 310008]]
ENST00000417499 [[290186, 290275], [299547, 299653], [303831, 303928], [304327, 304618]] [[304412, 304618]]
ENST00000600536 [[299545, 299653], [304379, 304680], [309481, 309598], [309967, 310159], [311382, 311513], [312091, 312224], [312422, 312552], [313260, 313401], [313698, 313774], [314014, 314170], [314612, 314715], [318774, 319004], [319518, 319942]] [[304412, 304680], [309481, 309598], [309967, 310159], [311382, 311513], [312091, 312224], [312422, 312552], [313260, 313401], [313698, 313774], [314014, 314170], [314612, 314715], [318774, 318923]]
ENST00000496874 [[304120, 304680], [309481, 309519]] None
ENST00000421000 [[304626, 304680], [309481, 309598], [309967, 310159], [310411, 310787]] [[304626, 304680], [309481, 309598], [309967, 310159], [310411, 310752]]
ENST00000468354 [[311203, 311513], [312091, 312243]] None
ENST00000424016 [[312506, 312552], [313260, 313401], [313698, 313774], [314612, 314715], [314809, 315089]] [[312506, 312552], [313260, 313401], [313698, 313774], [314612, 314715], [314809, 315021]]
NM_001284497 [[284544, 284856], [299547, 299653], [304386, 304680], [309481, 309598], [309967, 310159], [311382, 311513], [312091, 312224], [312422, 312552], [313260, 313401], [313698, 313774], [314014, 314170], [314612, 314715], [314809, 316124]] [[304412, 304680], [309481, 309598], [309967, 310159], [311382, 311513], [312091, 312224], [312422, 312552], [313260, 313401], [313698, 313774], [314014, 314170], [314612, 314715], [314809, 315021]]
NM_032039 [[284544, 284856], [299547, 299653], [304379, 304680], [309481, 309598], [309967, 310159], [311382, 311513], [312091, 312224], [312422, 312552], [313260, 313401], [313698, 313774], [314014, 314170], [314612, 314715], [314809, 316124]] [[304412, 304680], [309481, 309598], [309967, 310159], [311382, 311513], [312091, 312224], [312422, 312552], [313260, 313401], [313698, 313774], [314014, 314170], [314612, 314715], [314809, 315021]]
NR_104317 [[284544, 284856], [299547, 299653], [304379, 304680], [309481, 309598], [309967, 310159], [311382, 311513], [312091, 312224], [312422, 312552], [313260, 313401], [313698, 313774], [314014, 314170], [314612, 314715], [318774, 319004], [319518, 319942]] None
Promoter
Chrom Start End Description
chr16 284788 284844 CAGE_peak_1_at_ITFG3_5end
chr16 284853 284868 CAGE_peak_4_at_ITFG3_5end
chr16 290098 290109 CAGE_peak_13_at_ITFG3_5end
chr16 290135 290154 CAGE_peak_10_at_ITFG3_5end
chr16 290158 290178 CAGE_peak_8_at_ITFG3_5end
chr16 290181 290221 CAGE_peak_2_at_ITFG3_5end
chr16 304078 304115 CAGE_peak_7_at_ITFG3_5end
chr16 304126 304145 CAGE_peak_9_at_ITFG3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I000239 239306 240857 1.06 [{'connected_gene': 'RGS11', 'score': 12.45}, {'connected_gene': 'FAM234A', 'score': 8.45}, {'connected_gene': 'HBZ', 'score': 6.78}, {'connected_gene': 'LOC105379545', 'score': 0.77}, {'connected_gene': 'ENSG00000269881', 'score': 0.44}, {'connected_gene': 'GC16P000130', 'score': 0.12}]
chr16 GH16I000321 321262 322094 0.69 [{'connected_gene': 'FAM234A', 'score': 11.84}, {'connected_gene': 'LUC7L', 'score': 11.83}, {'connected_gene': 'LOC100129478', 'score': 11.83}, {'connected_gene': 'GC16P000467', 'score': 0.37}, {'connected_gene': 'PIR38678', 'score': 0.31}, {'connected_gene': 'AXIN1', 'score': 0.28}]
chr16 GH16I000200 200042 200975 0.59 [{'connected_gene': 'FAM234A', 'score': 21.21}, {'connected_gene': 'LUC7L', 'score': 12.91}, {'connected_gene': 'LOC100129478', 'score': 12.9}, {'connected_gene': 'HBM', 'score': 12.26}, {'connected_gene': 'HBZ', 'score': 12.23}, {'connected_gene': 'NPRL3', 'score': 12.17}, {'connected_gene': 'ENSG00000228779', 'score': 12.16}, {'connected_gene': 'GC16P000479', 'score': 0.44}, {'connected_gene': 'GC16M000176', 'score': 0.39}, {'connected_gene': 'GC16P000130', 'score': 0.16}]
chr16 GH16I000265 265302 266247 0.76 [{'connected_gene': 'FAM234A', 'score': 14.85}, {'connected_gene': 'ARHGDIG', 'score': 0.77}, {'connected_gene': 'PIR53440', 'score': 0.39}, {'connected_gene': 'ENSG00000269881', 'score': 0.37}]
chr16 GH16I000233 233518 236380 2.1 [{'connected_gene': 'FAM234A', 'score': 558.42}, {'connected_gene': 'WDR90', 'score': 70.78}, {'connected_gene': 'LUC7L', 'score': 57.77}, {'connected_gene': 'RHOT2', 'score': 46.92}, {'connected_gene': 'ENSG00000268836', 'score': 46.1}, {'connected_gene': 'JMJD8', 'score': 40.34}, {'connected_gene': 'WASH4P', 'score': 31.47}, {'connected_gene': 'ENSG00000228779', 'score': 24.68}, {'connected_gene': 'WDR24', 'score': 21.56}, {'connected_gene': 'LMF1', 'score': 19.22}, {'connected_gene': 'ENSG00000262528', 'score': 14.66}, {'connected_gene': 'ENSG00000260022', 'score': 14.47}, {'connected_gene': 'ENSG00000269482', 'score': 13.55}, {'connected_gene': 'LOC105371184', 'score': 12.21}, {'connected_gene': 'HBZ', 'score': 11.32}, {'connected_gene': 'ENSG00000259840', 'score': 10.6}, {'connected_gene': 'AXIN1', 'score': 10.32}, {'connected_gene': 'RAB11FIP3', 'score': 9.88}, {'connected_gene': 'CHTF18', 'score': 9.82}, {'connected_gene': 'RGS11', 'score': 9.59}, {'connected_gene': 'NME4', 'score': 5.53}, {'connected_gene': 'LOC105379545', 'score': 0.77}, {'connected_gene': 'GC16P000130', 'score': 0.13}]
chr16 GH16I000523 523999 531583 2.58 [{'connected_gene': 'CAPN15', 'score': 559.19}, {'connected_gene': 'GC16M000522', 'score': 550.77}, {'connected_gene': 'LINC00235', 'score': 550.77}, {'connected_gene': 'NHLRC4', 'score': 14.27}, {'connected_gene': 'PRR35', 'score': 13.03}, {'connected_gene': 'PIGQ', 'score': 13.02}, {'connected_gene': 'ENSG00000261505', 'score': 11.64}, {'connected_gene': 'ENSG00000260022', 'score': 9.84}, {'connected_gene': 'AXIN1', 'score': 9.81}, {'connected_gene': 'ENSG00000260051', 'score': 9.71}, {'connected_gene': 'DECR2', 'score': 6.74}, {'connected_gene': 'FAM234A', 'score': 5.26}, {'connected_gene': 'LUC7L', 'score': 1.16}]
chr16 GH16I000066 66701 80302 2.61 [{'connected_gene': 'RHBDF1', 'score': 565.79}, {'connected_gene': 'MPG', 'score': 562.1}, {'connected_gene': 'ENSG00000278995', 'score': 550.77}, {'connected_gene': 'GC16P000423', 'score': 550.77}, {'connected_gene': 'NPRL3', 'score': 22.39}, {'connected_gene': 'LUC7L', 'score': 13.99}, {'connected_gene': 'ENSG00000268836', 'score': 13.05}, {'connected_gene': 'WASH4P', 'score': 12.7}, {'connected_gene': 'ENSG00000228779', 'score': 11.93}, {'connected_gene': 'HBZ', 'score': 11.55}, {'connected_gene': 'HBM', 'score': 11.52}, {'connected_gene': 'SNRNP25', 'score': 11.02}, {'connected_gene': 'CHTF18', 'score': 10.37}, {'connected_gene': 'WDR90', 'score': 10.19}, {'connected_gene': 'RHOT2', 'score': 9.91}, {'connected_gene': 'ENSG00000260022', 'score': 9.82}, {'connected_gene': 'WDR24', 'score': 9.81}, {'connected_gene': 'MRPL28', 'score': 4.09}, {'connected_gene': 'NME4', 'score': 3.33}, {'connected_gene': 'PIGQ', 'score': 3.08}, {'connected_gene': 'TMEM8A', 'score': 2.51}, {'connected_gene': 'FAM234A', 'score': 2.13}, {'connected_gene': 'DECR2', 'score': 1.32}, {'connected_gene': 'GC16M000080', 'score': 0.44}]
chr16 GH16I000323 323759 329105 1.8 [{'connected_gene': 'LUC7L', 'score': 68.72}, {'connected_gene': 'WDR90', 'score': 59.42}, {'connected_gene': 'ENSG00000228779', 'score': 39.16}, {'connected_gene': 'RHOT2', 'score': 29.56}, {'connected_gene': 'UBE2I', 'score': 28.9}, {'connected_gene': 'ENSG00000261505', 'score': 28.72}, {'connected_gene': 'WDR24', 'score': 27.46}, {'connected_gene': 'JMJD8', 'score': 24.0}, {'connected_gene': 'ENSG00000262528', 'score': 23.8}, {'connected_gene': 'TMEM8A', 'score': 21.43}, {'connected_gene': 'WASH4P', 'score': 21.28}, {'connected_gene': 'ENSG00000268836', 'score': 19.17}, {'connected_gene': 'AXIN1', 'score': 16.04}, {'connected_gene': 'MPG', 'score': 13.21}, {'connected_gene': 'FAM234A', 'score': 11.83}, {'connected_gene': 'LOC100129478', 'score': 11.83}, {'connected_gene': 'RHBDF1', 'score': 11.27}, {'connected_gene': 'PIGQ', 'score': 11.16}, {'connected_gene': 'LMF1', 'score': 10.8}, {'connected_gene': 'CHTF18', 'score': 10.39}, {'connected_gene': 'LOC105371184', 'score': 10.38}, {'connected_gene': 'RPUSD1', 'score': 10.3}, {'connected_gene': 'RAB11FIP3', 'score': 10.01}, {'connected_gene': 'ENSG00000260022', 'score': 9.83}, {'connected_gene': 'PDIA2', 'score': 9.2}, {'connected_gene': 'NHLRC4', 'score': 7.02}, {'connected_gene': 'NME4', 'score': 6.74}, {'connected_gene': 'MRPL28', 'score': 5.31}, {'connected_gene': 'HBZ', 'score': 5.21}, {'connected_gene': 'CAPN15', 'score': 1.17}, {'connected_gene': 'GC16P000467', 'score': 0.34}, {'connected_gene': 'PIR38678', 'score': 0.34}]
chr16 GH16I000227 227918 230051 2.09 [{'connected_gene': 'LUC7L', 'score': 564.24}, {'connected_gene': 'LOC105371184', 'score': 12.71}, {'connected_gene': 'ENSG00000262528', 'score': 10.85}, {'connected_gene': 'FAM234A', 'score': 9.32}, {'connected_gene': 'GC16M000218', 'score': 0.77}, {'connected_gene': 'LOC102723930', 'score': 0.34}, {'connected_gene': 'GC16P000130', 'score': 0.13}]
chr16 GH16I000342 342161 343428 0.86 [{'connected_gene': 'HBM', 'score': 11.31}, {'connected_gene': 'HBZ', 'score': 11.3}, {'connected_gene': 'FAM234A', 'score': 11.16}, {'connected_gene': 'LUC7L', 'score': 11.15}, {'connected_gene': 'LOC100129478', 'score': 11.15}, {'connected_gene': 'MRPL28', 'score': 10.9}, {'connected_gene': 'TMEM8A', 'score': 9.52}, {'connected_gene': 'ARHGDIG', 'score': 7.08}, {'connected_gene': 'PDIA2', 'score': 4.84}, {'connected_gene': 'PIR38678', 'score': 0.44}, {'connected_gene': 'AXIN1', 'score': 0.37}, {'connected_gene': 'GC16P000467', 'score': 0.28}]
chr16 GH16I000268 268350 269945 0.72 [{'connected_gene': 'ARHGDIG', 'score': 559.59}, {'connected_gene': 'RGS11', 'score': 0.44}, {'connected_gene': 'GC16M000275', 'score': 0.44}, {'connected_gene': 'GC16M000274', 'score': 0.44}, {'connected_gene': 'ENSG00000269881', 'score': 0.37}, {'connected_gene': 'FAM234A', 'score': 0.29}]
chr16 GH16I000143 143502 143651 0.87 [{'connected_gene': 'HBZ', 'score': 550.77}, {'connected_gene': 'LUC7L', 'score': 11.75}, {'connected_gene': 'LOC100129478', 'score': 11.75}, {'connected_gene': 'FAM234A', 'score': 11.74}, {'connected_gene': 'NPRL3', 'score': 5.13}, {'connected_gene': 'GC16M000144', 'score': 0.44}, {'connected_gene': 'GC16P000130', 'score': 0.29}]
chr16 GH16I000144 143029 143282 1.11 [{'connected_gene': 'HBZ', 'score': 550.77}, {'connected_gene': 'HBM', 'score': 39.76}, {'connected_gene': 'LUC7L', 'score': 11.75}, {'connected_gene': 'LOC100129478', 'score': 11.75}, {'connected_gene': 'FAM234A', 'score': 11.74}, {'connected_gene': 'HBQ1', 'score': 6.34}, {'connected_gene': 'NHLRC4', 'score': 3.51}, {'connected_gene': 'GC16M000144', 'score': 0.44}, {'connected_gene': 'GC16P000130', 'score': 0.29}]
chr16 GH16I000180 180126 182071 1.76 [{'connected_gene': 'HBQ1', 'score': 550.77}, {'connected_gene': 'WDR90', 'score': 66.03}, {'connected_gene': 'RHOT2', 'score': 42.53}, {'connected_gene': 'WASH4P', 'score': 34.21}, {'connected_gene': 'WDR24', 'score': 30.43}, {'connected_gene': 'JMJD8', 'score': 30.38}, {'connected_gene': 'ENSG00000268836', 'score': 26.29}, {'connected_gene': 'ENSG00000260022', 'score': 22.45}, {'connected_gene': 'AXIN1', 'score': 19.65}, {'connected_gene': 'LMF1', 'score': 19.22}, {'connected_gene': 'LUC7L', 'score': 18.44}, {'connected_gene': 'ENSG00000262528', 'score': 14.65}, {'connected_gene': 'ENSG00000269482', 'score': 13.6}, {'connected_gene': 'HBM', 'score': 13.19}, {'connected_gene': 'HBZ', 'score': 13.15}, {'connected_gene': 'ENSG00000228779', 'score': 10.59}, {'connected_gene': 'MPG', 'score': 10.25}, {'connected_gene': 'CHTF18', 'score': 9.82}, {'connected_gene': 'FAM234A', 'score': 8.05}, {'connected_gene': 'PIGQ', 'score': 5.45}, {'connected_gene': 'GC16M000176', 'score': 0.44}, {'connected_gene': 'GC16P000130', 'score': 0.19}]
chr16 GH16I000241 241898 242451 0.78 [{'connected_gene': 'LOC105379545', 'score': 0.77}, {'connected_gene': 'FAM234A', 'score': 0.44}, {'connected_gene': 'ENSG00000269881', 'score': 0.44}, {'connected_gene': 'GC16P000130', 'score': 0.12}]
chr16 GH16I000500 500720 504224 1.09 [{'connected_gene': 'ENSG00000261505', 'score': 18.33}, {'connected_gene': 'TELO2', 'score': 13.78}, {'connected_gene': 'ENSG00000260051', 'score': 12.62}, {'connected_gene': 'RHOT2', 'score': 10.97}, {'connected_gene': 'UBE2I', 'score': 10.94}, {'connected_gene': 'JMJD8', 'score': 10.7}, {'connected_gene': 'CAPN15', 'score': 10.62}, {'connected_gene': 'UNKL', 'score': 10.57}, {'connected_gene': 'WDR90', 'score': 10.46}, {'connected_gene': 'FAM234A', 'score': 5.42}, {'connected_gene': 'GC16M000490', 'score': 0.77}, {'connected_gene': 'GC16M000506', 'score': 0.77}, {'connected_gene': 'RAB11FIP3', 'score': 0.18}]
chr16 GH16I000250 250026 250886 0.69 [{'connected_gene': 'ENSG00000269881', 'score': 550.77}, {'connected_gene': 'FAM234A', 'score': 12.45}, {'connected_gene': 'LUC7L', 'score': 12.43}, {'connected_gene': 'HBM', 'score': 11.76}, {'connected_gene': 'HBZ', 'score': 11.75}, {'connected_gene': 'WASH4P', 'score': 4.8}, {'connected_gene': 'PIR53440', 'score': 0.77}, {'connected_gene': 'GC16P000130', 'score': 0.11}]
chr16 GH16I000252 252009 253599 1.25 [{'connected_gene': 'PIR53440', 'score': 550.77}, {'connected_gene': 'LUC7L', 'score': 12.43}, {'connected_gene': 'LOC100129478', 'score': 12.43}, {'connected_gene': 'FAM234A', 'score': 12.36}, {'connected_gene': 'HBM', 'score': 11.76}, {'connected_gene': 'HBZ', 'score': 11.74}, {'connected_gene': 'ARHGDIG', 'score': 5.36}, {'connected_gene': 'ENSG00000269881', 'score': 0.77}, {'connected_gene': 'GC16P000130', 'score': 0.11}]
chr16 GH16I001018 1018844 1024536 1.16 [{'connected_gene': 'ENSG00000260807', 'score': 8.08}, {'connected_gene': 'SOX8', 'score': 5.9}, {'connected_gene': 'FAM234A', 'score': 4.69}, {'connected_gene': 'PIR47161', 'score': 0.44}, {'connected_gene': 'LOC102723753', 'score': 0.39}]
chr16 GH16I000253 253665 254500 0.58 [{'connected_gene': 'PIR53440', 'score': 550.77}, {'connected_gene': 'HBZ', 'score': 17.53}, {'connected_gene': 'LUC7L', 'score': 12.43}, {'connected_gene': 'LOC100129478', 'score': 12.43}, {'connected_gene': 'HBM', 'score': 11.76}, {'connected_gene': 'ENSG00000269881', 'score': 0.77}, {'connected_gene': 'FAM234A', 'score': 0.37}]
chr16 GH16I000175 175513 178568 1.38 [{'connected_gene': 'ENSG00000207243', 'score': 550.77}, {'connected_gene': 'HBA2', 'score': 550.77}, {'connected_gene': 'GC16P000431', 'score': 550.77}, {'connected_gene': 'HBA1', 'score': 550.77}, {'connected_gene': 'HBZ', 'score': 27.88}, {'connected_gene': 'RHOT2', 'score': 13.71}, {'connected_gene': 'WASH4P', 'score': 13.49}, {'connected_gene': 'HBM', 'score': 13.22}, {'connected_gene': 'WDR90', 'score': 12.17}, {'connected_gene': 'AXIN1', 'score': 11.16}, {'connected_gene': 'JMJD8', 'score': 11.1}, {'connected_gene': 'MPG', 'score': 10.25}, {'connected_gene': 'ENSG00000260022', 'score': 9.77}, {'connected_gene': 'FAM234A', 'score': 7.64}, {'connected_gene': 'GC16M000176', 'score': 0.39}, {'connected_gene': 'GC16P000130', 'score': 0.2}]
chr16 GH16I000508 508024 510051 1.11 [{'connected_gene': 'GC16M000506', 'score': 550.77}, {'connected_gene': 'NHLRC4', 'score': 12.14}, {'connected_gene': 'PIGQ', 'score': 12.14}, {'connected_gene': 'PRR35', 'score': 12.02}, {'connected_gene': 'FAM234A', 'score': 5.28}, {'connected_gene': 'RAB11FIP3', 'score': 4.86}, {'connected_gene': 'PIR43962', 'score': 0.44}]

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