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
ENST00000338148 [[99797541, 99797712], [99802639, 99802717], [99804639, 99804720], [99811213, 99811360], [99811578, 99811652], [99812035, 99814089]] [[99802666, 99802717], [99804639, 99804720], [99811213, 99811360], [99811578, 99811652], [99812035, 99812168]]
ENST00000473743 [[99797614, 99797712], [99802639, 99802717], [99803381, 99803481], [99804639, 99804720], [99811213, 99811360], [99811578, 99811641]] None
ENST00000409145 [[99797648, 99797712], [99802639, 99802717], [99804639, 99804720], [99811213, 99811552]] [[99802666, 99802717], [99804639, 99804720], [99811213, 99811387]]
ENST00000465432 [[99797673, 99797712], [99811213, 99811360], [99811578, 99811652], [99812035, 99812485], [99812820, 99813862]] None
ENST00000409841 [[99802638, 99802717], [99804639, 99804720], [99811213, 99811360], [99811578, 99811652], [99812035, 99812286], [99813021, 99813886]] [[99802666, 99802717], [99804639, 99804720], [99811213, 99811360], [99811578, 99811652], [99812035, 99812168]]
NR_028356 [[99797541, 99797712], [99802639, 99802717], [99804639, 99804720], [99811213, 99811360], [99811578, 99811652], [99812035, 99812219], [99813616, 99816020]] None
NM_145212 [[99797541, 99797712], [99802639, 99802717], [99804639, 99804720], [99811213, 99811360], [99811578, 99811652], [99812035, 99816020]] [[99802666, 99802717], [99804639, 99804720], [99811213, 99811360], [99811578, 99811652], [99812035, 99812168]]
Promoter
Chrom Start End Description
chr2 99758161 99758207 CAGE_peak_1_at_C2orf15_5end,CAGE_peak_4_at_MRPL30_5end
chr2 99758223 99758246 CAGE_peak_3_at_C2orf15_5end,CAGE_peak_6_at_MRPL30_5end
chr2 99771423 99771498 CAGE_peak_1_at_LIPT1_5end,CAGE_peak_2_at_MRPL30_5end
chr2 99797607 99797623 CAGE_peak_3_at_MRPL30_5end
chr2 99797636 99797686 CAGE_peak_1_at_MRPL30_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I000351 351012 356797 2.16 [{'connected_gene': 'AXIN1', 'score': 558.46}, {'connected_gene': 'TMEM8A', 'score': 25.39}, {'connected_gene': 'MRPL28', 'score': 8.92}, {'connected_gene': 'ARHGDIG', 'score': 6.92}, {'connected_gene': 'NME4', 'score': 6.05}, {'connected_gene': 'HBZ', 'score': 4.49}, {'connected_gene': 'PIR38678', 'score': 0.77}]
chr16 GH16I000358 358968 365126 1.37 [{'connected_gene': 'AXIN1', 'score': 550.77}, {'connected_gene': 'TMEM8A', 'score': 35.59}, {'connected_gene': 'MRPL28', 'score': 13.15}, {'connected_gene': 'ARHGDIG', 'score': 6.75}]
chr2 GH02I099152 99152045 99156275 2.1 [{'connected_gene': 'TSGA10', 'score': 603.16}, {'connected_gene': 'LIPT1', 'score': 557.09}, {'connected_gene': 'ENSG00000273155', 'score': 550.77}, {'connected_gene': 'REV1', 'score': 11.66}, {'connected_gene': 'MRPL30', 'score': 7.88}, {'connected_gene': 'ENSG00000241962', 'score': 4.77}, {'connected_gene': 'C2orf15', 'score': 0.39}]
chr2 GH02I099065 99065488 99067347 0.92 [{'connected_gene': 'TSGA10', 'score': 42.45}, {'connected_gene': 'LIPT1', 'score': 10.03}, {'connected_gene': 'MRPL30', 'score': 10.0}, {'connected_gene': 'LOC550644', 'score': 0.28}, {'connected_gene': 'KIAA1211L', 'score': 0.12}]
chr2 GH02I099323 99323688 99325091 0.31 [{'connected_gene': 'TSGA10', 'score': 25.72}, {'connected_gene': 'REV1', 'score': 15.67}, {'connected_gene': 'ENSG00000241962', 'score': 12.08}, {'connected_gene': 'MITD1', 'score': 11.49}, {'connected_gene': 'MRPL30', 'score': 11.49}, {'connected_gene': 'LIPT1', 'score': 10.01}, {'connected_gene': 'LYG1', 'score': 8.95}, {'connected_gene': 'PIR33754', 'score': 0.44}, {'connected_gene': 'EIF5B', 'score': 0.39}, {'connected_gene': 'TXNDC9', 'score': 0.37}]
chr2 GH02I099479 99479623 99482591 0.85 [{'connected_gene': 'TSGA10', 'score': 24.04}, {'connected_gene': 'MRPL30', 'score': 9.52}, {'connected_gene': 'LYG1', 'score': 9.28}, {'connected_gene': 'LIPT1', 'score': 9.09}, {'connected_gene': 'REV1', 'score': 6.92}, {'connected_gene': 'ENSG00000273306', 'score': 0.18}]
chr2 GH02I099474 99474205 99477548 0.83 [{'connected_gene': 'TSGA10', 'score': 23.5}, {'connected_gene': 'LYG1', 'score': 12.94}, {'connected_gene': 'MRPL30', 'score': 9.53}, {'connected_gene': 'LIPT1', 'score': 9.09}, {'connected_gene': 'REV1', 'score': 6.01}, {'connected_gene': 'ENSG00000273306', 'score': 0.19}]
chr2 GH02I099471 99471059 99473952 0.69 [{'connected_gene': 'TSGA10', 'score': 20.88}, {'connected_gene': 'LYG1', 'score': 13.14}, {'connected_gene': 'MRPL30', 'score': 9.9}, {'connected_gene': 'LIPT1', 'score': 9.09}, {'connected_gene': 'REV1', 'score': 5.89}, {'connected_gene': 'ENSG00000273306', 'score': 0.2}]
chr2 GH02I099430 99430539 99431947 0.52 [{'connected_gene': 'TSGA10', 'score': 24.39}, {'connected_gene': 'TXNDC9', 'score': 11.23}, {'connected_gene': 'EIF5B', 'score': 11.23}, {'connected_gene': 'REV1', 'score': 11.05}, {'connected_gene': 'MRPL30', 'score': 9.8}, {'connected_gene': 'LIPT1', 'score': 9.79}, {'connected_gene': 'LYG1', 'score': 9.75}, {'connected_gene': 'ENSG00000273306', 'score': 0.31}]
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 GH16I000337 337643 341081 1.38 [{'connected_gene': 'TMEM8A', 'score': 30.44}, {'connected_gene': 'MRPL28', 'score': 9.35}, {'connected_gene': 'ARHGDIG', 'score': 6.94}, {'connected_gene': 'RHBDF1', 'score': 6.33}, {'connected_gene': 'PIR38678', 'score': 0.39}, {'connected_gene': 'AXIN1', 'score': 0.34}, {'connected_gene': 'GC16P000467', 'score': 0.29}]
chr16 GH16I000329 329882 332820 1.37 [{'connected_gene': 'TMEM8A', 'score': 31.57}, {'connected_gene': 'NHLRC4', 'score': 10.28}, {'connected_gene': 'MRPL28', 'score': 9.36}, {'connected_gene': 'ARHGDIG', 'score': 7.03}, {'connected_gene': 'NME4', 'score': 5.02}, {'connected_gene': 'AXIN1', 'score': 2.9}, {'connected_gene': 'HAGHL', 'score': 1.35}, {'connected_gene': 'PIR38678', 'score': 0.37}, {'connected_gene': 'GC16P000467', 'score': 0.31}]
chr16 GH16I000378 378712 384766 2.16 [{'connected_gene': 'TMEM8A', 'score': 592.4}, {'connected_gene': 'LOC100134368', 'score': 550.77}, {'connected_gene': 'MRPL28', 'score': 19.38}, {'connected_gene': 'ENSG00000228779', 'score': 11.12}, {'connected_gene': 'LOC105371036', '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 GH16I000369 369381 371647 1.98 [{'connected_gene': 'MRPL28', 'score': 574.03}, {'connected_gene': 'TMEM8A', 'score': 45.84}, {'connected_gene': 'WDR90', 'score': 22.14}, {'connected_gene': 'WDR24', 'score': 10.66}, {'connected_gene': 'AXIN1', 'score': 0.44}]
chr16 GH16I000371 371661 371741 0.43 [{'connected_gene': 'MRPL28', 'score': 550.77}, {'connected_gene': 'TMEM8A', 'score': 12.1}, {'connected_gene': 'LOC100134368', 'score': 0.39}]
chr16 GH16I000336 336183 336664 0.72 [{'connected_gene': 'MRPL28', 'score': 8.45}, {'connected_gene': 'ARHGDIG', 'score': 6.85}, {'connected_gene': 'PIR38678', 'score': 0.39}, {'connected_gene': 'AXIN1', 'score': 0.31}, {'connected_gene': 'GC16P000467', 'score': 0.29}]
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 GH16I000278 278821 281854 1.78 [{'connected_gene': 'ARHGDIG', 'score': 550.39}, {'connected_gene': 'AXIN1', 'score': 18.38}, {'connected_gene': 'WASH4P', 'score': 14.05}, {'connected_gene': 'RHOT2', 'score': 11.56}, {'connected_gene': 'ENSG00000268836', 'score': 11.31}, {'connected_gene': 'PDIA2', 'score': 8.2}, {'connected_gene': 'RGS11', 'score': 7.8}, {'connected_gene': 'DDX11L10', 'score': 5.57}, {'connected_gene': 'MRPL28', 'score': 5.48}, {'connected_gene': 'HBZ', 'score': 4.4}, {'connected_gene': 'GC16P000474', 'score': 0.77}]
chr2 GH02I098606 98606714 98610931 2.27 [{'connected_gene': 'UNC50', 'score': 557.74}, {'connected_gene': 'COA5', 'score': 550.77}, {'connected_gene': 'INPP4A', 'score': 18.28}, {'connected_gene': 'RNU7-46P', 'score': 10.81}, {'connected_gene': 'LIPT1', 'score': 8.98}, {'connected_gene': 'TSGA10', 'score': 8.98}, {'connected_gene': 'MRPL30', 'score': 8.98}, {'connected_gene': 'PIR57027', 'score': 0.77}]
chr2 GH02I099198 99198238 99198387 0.31 [{'connected_gene': 'LYG2', 'score': 10.14}, {'connected_gene': 'MRPL30', 'score': 0.37}, {'connected_gene': 'ENSG00000241962', 'score': 0.22}]
chr16 GH16I000640 640487 650623 2.28 [{'connected_gene': 'WDR90', 'score': 568.85}, {'connected_gene': 'GC16P000998', 'score': 550.77}, {'connected_gene': 'MCRIP2', 'score': 550.44}, {'connected_gene': 'IFT140', 'score': 40.86}, {'connected_gene': 'LUC7L', 'score': 34.98}, {'connected_gene': 'ENSG00000262528', 'score': 33.53}, {'connected_gene': 'WFIKKN1', 'score': 26.26}, {'connected_gene': 'CRAMP1', 'score': 22.83}, {'connected_gene': 'UBE2I', 'score': 18.5}, {'connected_gene': 'RHBDL1', 'score': 18.26}, {'connected_gene': 'WDR24', 'score': 16.88}, {'connected_gene': 'ENSG00000269482', 'score': 14.74}, {'connected_gene': 'JMJD8', 'score': 13.8}, {'connected_gene': 'LOC105371184', 'score': 12.96}, {'connected_gene': 'CCDC154', 'score': 12.76}, {'connected_gene': 'TELO2', 'score': 12.51}, {'connected_gene': 'ENSG00000260646', 'score': 12.26}, {'connected_gene': 'ENSG00000268836', 'score': 11.42}, {'connected_gene': 'PIGQ', 'score': 11.3}, {'connected_gene': 'WASH4P', 'score': 10.63}, {'connected_gene': 'UNKL', 'score': 9.8}, {'connected_gene': 'MRPL28', 'score': 5.02}, {'connected_gene': 'LOC105371038', 'score': 0.77}, {'connected_gene': 'GC16M000639', 'score': 0.77}, {'connected_gene': 'PIR38349', 'score': 0.44}]
chr2 GH02I099179 99179845 99183227 2.12 [{'connected_gene': 'MITD1', 'score': 585.99}, {'connected_gene': 'MRPL30', 'score': 550.77}, {'connected_gene': 'TSGA10', 'score': 71.22}, {'connected_gene': 'UNC50', 'score': 34.98}, {'connected_gene': 'REV1', 'score': 24.87}, {'connected_gene': 'LIPT1', 'score': 23.18}, {'connected_gene': 'ENSG00000273306', 'score': 17.53}, {'connected_gene': 'LOC550644', 'score': 13.74}, {'connected_gene': 'ENSG00000241962', 'score': 6.27}, {'connected_gene': 'LYG1', 'score': 5.61}, {'connected_gene': 'ENSG00000273155', 'score': 0.31}, {'connected_gene': 'LYG2', 'score': 0.18}]
chr2 GH02I099180 99179084 99179463 0.63 [{'connected_gene': 'MITD1', 'score': 550.77}, {'connected_gene': 'MRPL30', 'score': 550.77}, {'connected_gene': 'LIPT1', 'score': 11.76}, {'connected_gene': 'TSGA10', 'score': 11.76}, {'connected_gene': 'KIAA1211L', 'score': 5.16}, {'connected_gene': 'ENSG00000273155', 'score': 0.34}, {'connected_gene': 'ENSG00000241962', 'score': 0.28}]

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