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
ENST00000396581 [[30103884, 30103966], [30104509, 30105158], [30113770, 30113866], [30114761, 30114986], [30115296, 30115319], [30115501, 30116512]] [[30104813, 30105158], [30113770, 30113866], [30114761, 30114986], [30115296, 30115319], [30115501, 30115589]]
ENST00000489892 [[30103900, 30104375], [30104509, 30104975]] None
ENST00000376724 [[30104509, 30105158], [30113770, 30113866], [30114761, 30114986], [30115296, 30115319], [30115501, 30116512]] [[30104813, 30105158], [30113770, 30113866], [30114761, 30114986], [30115296, 30115319], [30115501, 30115589]]
ENST00000307859 [[30104786, 30105158], [30113770, 30113866], [30114848, 30114986], [30115296, 30115319], [30115501, 30116512]] [[30104813, 30105158], [30113770, 30113866], [30114848, 30114986], [30115296, 30115319], [30115501, 30115589]]
NM_001286633 [[30103884, 30103966], [30104509, 30105158], [30113770, 30113866], [30114761, 30114986], [30115296, 30115319], [30115501, 30116512]] [[30104813, 30105158], [30113770, 30113866], [30114761, 30114986], [30115296, 30115319], [30115501, 30115589]]
NM_138700 [[30104509, 30105158], [30113770, 30113866], [30114848, 30114986], [30115296, 30115319], [30115501, 30116512]] [[30104813, 30105158], [30113770, 30113866], [30114848, 30114986], [30115296, 30115319], [30115501, 30115589]]
NM_001286633 [[1344139, 1344201], [1344744, 1345393], [1354005, 1354101], [1354996, 1355221], [1355531, 1355554], [1355736, 1356747]] [[1345048, 1345393], [1354005, 1354101], [1354996, 1355221], [1355531, 1355554], [1355736, 1355824]]
NM_138700 [[1344744, 1345393], [1354005, 1354101], [1355083, 1355221], [1355531, 1355554], [1355736, 1356747]] [[1345048, 1345393], [1354005, 1354101], [1355083, 1355221], [1355531, 1355554], [1355736, 1355824]]
NM_001286633 [[1616018, 1616100], [1616643, 1617292], [1625907, 1626003], [1626898, 1627123], [1627433, 1627456], [1627638, 1628649]] [[1616947, 1617292], [1625907, 1626003], [1626898, 1627123], [1627433, 1627456], [1627638, 1627726]]
NM_138700 [[1616643, 1617292], [1625907, 1626003], [1626985, 1627123], [1627433, 1627456], [1627638, 1628649]] [[1616947, 1617292], [1625907, 1626003], [1626985, 1627123], [1627433, 1627456], [1627638, 1627726]]
NM_001286633 [[1397610, 1397692], [1398235, 1398884], [1407495, 1407591], [1408486, 1408711], [1409021, 1409044], [1409226, 1410237]] [[1398539, 1398884], [1407495, 1407591], [1408486, 1408711], [1409021, 1409044], [1409226, 1409314]]
NM_138700 [[1398235, 1398884], [1407495, 1407591], [1408573, 1408711], [1409021, 1409044], [1409226, 1410237]] [[1398539, 1398884], [1407495, 1407591], [1408573, 1408711], [1409021, 1409044], [1409226, 1409314]]
NM_001286633 [[1485781, 1485863], [1486406, 1487055], [1495660, 1495756], [1496651, 1496876], [1497186, 1497209], [1497391, 1498402]] [[1486710, 1487055], [1495660, 1495756], [1496651, 1496876], [1497186, 1497209], [1497391, 1497479]]
NM_138700 [[1486406, 1487055], [1495660, 1495756], [1496738, 1496876], [1497186, 1497209], [1497391, 1498402]] [[1486710, 1487055], [1495660, 1495756], [1496738, 1496876], [1497186, 1497209], [1497391, 1497479]]
NM_001286633 [[1396831, 1396913], [1397456, 1398105], [1406718, 1406814], [1407709, 1407934], [1408244, 1408267], [1408449, 1409460]] [[1397760, 1398105], [1406718, 1406814], [1407709, 1407934], [1408244, 1408267], [1408449, 1408537]]
NM_138700 [[1397456, 1398105], [1406718, 1406814], [1407796, 1407934], [1408244, 1408267], [1408449, 1409460]] [[1397760, 1398105], [1406718, 1406814], [1407796, 1407934], [1408244, 1408267], [1408449, 1408537]]
NM_001286633 [[1452449, 1452531], [1453074, 1453723], [1462335, 1462431], [1463326, 1463551], [1463861, 1463884], [1464066, 1465077]] [[1453378, 1453723], [1462335, 1462431], [1463326, 1463551], [1463861, 1463884], [1464066, 1464154]]
NM_138700 [[1453074, 1453723], [1462335, 1462431], [1463413, 1463551], [1463861, 1463884], [1464066, 1465077]] [[1453378, 1453723], [1462335, 1462431], [1463413, 1463551], [1463861, 1463884], [1464066, 1464154]]
NM_001286633 [[1434344, 1434426], [1434969, 1435618], [1444223, 1444319], [1445214, 1445439], [1445749, 1445772], [1445954, 1446965]] [[1435273, 1435618], [1444223, 1444319], [1445214, 1445439], [1445749, 1445772], [1445954, 1446042]]
NM_138700 [[1434969, 1435618], [1444223, 1444319], [1445301, 1445439], [1445749, 1445772], [1445954, 1446965]] [[1435273, 1435618], [1444223, 1444319], [1445301, 1445439], [1445749, 1445772], [1445954, 1446042]]
Promoter
Chrom Start End Description
chr6 30103788 30103808 CAGE_peak_2_at_TRIM40_5end
chr6 30103907 30103922 CAGE_peak_1_at_TRIM40_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I030210 30210860 30214918 2.06 [{'connected_gene': 'TRIM26', 'score': 575.03}, {'connected_gene': 'PIR43263', 'score': 550.77}, {'connected_gene': 'HLA-U', 'score': 39.6}, {'connected_gene': 'DHX16', 'score': 35.71}, {'connected_gene': 'HLA-W', 'score': 33.97}, {'connected_gene': 'MICD', 'score': 32.23}, {'connected_gene': 'TRIM39', 'score': 31.49}, {'connected_gene': 'ZNRD1', 'score': 28.55}, {'connected_gene': 'PPP1R10', 'score': 27.28}, {'connected_gene': 'PAIP1P1', 'score': 26.91}, {'connected_gene': 'HLA-H', 'score': 25.85}, {'connected_gene': 'MDC1', 'score': 25.03}, {'connected_gene': 'TRIM31', 'score': 24.24}, {'connected_gene': 'TCF19', 'score': 23.58}, {'connected_gene': 'NRM', 'score': 23.0}, {'connected_gene': 'ETF1P1', 'score': 22.81}, {'connected_gene': 'HLA-F-AS1', 'score': 22.17}, {'connected_gene': 'HLA-K', 'score': 21.75}, {'connected_gene': 'ABCF1', 'score': 21.59}, {'connected_gene': 'MICE', 'score': 21.4}, {'connected_gene': 'HLA-J', 'score': 21.06}, {'connected_gene': 'ENSG00000272540', 'score': 20.26}, {'connected_gene': 'HCG4P3', 'score': 19.81}, {'connected_gene': 'HCG4P7', 'score': 19.32}, {'connected_gene': 'HLA-A', 'score': 13.47}, {'connected_gene': 'TRIM40', 'score': 9.64}, {'connected_gene': 'HCG18', 'score': 8.31}, {'connected_gene': 'ZFP57', 'score': 8.12}, {'connected_gene': 'ZNRD1ASP', 'score': 5.58}]
chr6 GH06I030143 30143656 30145409 0.64 [{'connected_gene': 'HLA-U', 'score': 34.62}, {'connected_gene': 'TRIM40', 'score': 32.86}, {'connected_gene': 'TRIM31', 'score': 31.09}, {'connected_gene': 'ZFP57', 'score': 12.25}, {'connected_gene': 'DHX16', 'score': 9.97}, {'connected_gene': 'HCG4P3', 'score': 6.75}, {'connected_gene': 'IFITM4P', 'score': 4.32}, {'connected_gene': 'TRIM15', 'score': 0.37}]
chr6 GH06I030153 30153516 30157325 1.19 [{'connected_gene': 'HLA-U', 'score': 38.22}, {'connected_gene': 'TRIM31', 'score': 31.34}, {'connected_gene': 'HCG18', 'score': 24.75}, {'connected_gene': 'MDC1', 'score': 15.16}, {'connected_gene': 'HCG4P7', 'score': 14.27}, {'connected_gene': 'ETF1P1', 'score': 13.77}, {'connected_gene': 'PPP1R10', 'score': 13.73}, {'connected_gene': 'HLA-A', 'score': 13.33}, {'connected_gene': 'PAIP1P1', 'score': 12.48}, {'connected_gene': 'TRIM39', 'score': 12.14}, {'connected_gene': 'TRIM31-AS1', 'score': 11.89}, {'connected_gene': 'GTF2H4', 'score': 11.74}, {'connected_gene': 'TRIM26', 'score': 11.41}, {'connected_gene': 'DHX16', 'score': 10.62}, {'connected_gene': 'HLA-H', 'score': 8.68}, {'connected_gene': 'HLA-K', 'score': 7.55}, {'connected_gene': 'TRIM40', 'score': 5.54}, {'connected_gene': 'IFITM4P', 'score': 3.66}, {'connected_gene': 'TRIM10', 'score': 0.44}, {'connected_gene': 'TRIM15', 'score': 0.44}]
chr6 GH06I030507 30507618 30511600 1.54 [{'connected_gene': 'TRIM39-RPP21', 'score': 13.07}, {'connected_gene': 'HLA-A', 'score': 11.26}, {'connected_gene': 'ABCF1', 'score': 8.92}, {'connected_gene': 'PPP1R10', 'score': 7.46}, {'connected_gene': 'TRIM39', 'score': 6.43}, {'connected_gene': 'HLA-E', 'score': 6.29}, {'connected_gene': 'TRIM26', 'score': 4.33}, {'connected_gene': 'PPP1R11', 'score': 3.77}, {'connected_gene': 'PRR3', 'score': 2.87}, {'connected_gene': 'FLOT1', 'score': 2.42}, {'connected_gene': 'PPP1R18', 'score': 2.31}, {'connected_gene': 'TRIM40', 'score': 1.28}, {'connected_gene': 'LINC02569', 'score': 0.44}]
chr6 GH06I030133 30133515 30137708 1.39 [{'connected_gene': 'TRIM40', 'score': 558.24}, {'connected_gene': 'TRIM31', 'score': 47.03}, {'connected_gene': 'HLA-K', 'score': 14.53}, {'connected_gene': 'HLA-A', 'score': 14.26}, {'connected_gene': 'HCG4P3', 'score': 13.63}, {'connected_gene': 'TRIM31-AS1', 'score': 12.5}, {'connected_gene': 'TRIM10', 'score': 12.03}, {'connected_gene': 'TRIM15', 'score': 12.03}, {'connected_gene': 'PPP1R10', 'score': 11.38}, {'connected_gene': 'TRIM39', 'score': 11.23}, {'connected_gene': 'TRIM26', 'score': 10.12}, {'connected_gene': 'PAIP1P1', 'score': 10.03}, {'connected_gene': 'ZNRD1', 'score': 9.94}, {'connected_gene': 'MDC1', 'score': 9.88}, {'connected_gene': 'LINC00243', 'score': 8.4}, {'connected_gene': 'RPL23AP1', 'score': 7.49}, {'connected_gene': 'HLA-G', 'score': 7.07}, {'connected_gene': 'HLA-F', 'score': 6.59}, {'connected_gene': 'HCG18', 'score': 5.21}, {'connected_gene': 'HLA-W', 'score': 3.77}]
chr6 GH06I030129 30129382 30132433 1.19 [{'connected_gene': 'TRIM40', 'score': 38.46}, {'connected_gene': 'TRIM31', 'score': 30.54}, {'connected_gene': 'TRIM31-AS1', 'score': 13.15}, {'connected_gene': 'TRIM10', 'score': 12.09}, {'connected_gene': 'TRIM15', 'score': 12.09}, {'connected_gene': 'HLA-A', 'score': 4.52}, {'connected_gene': 'HCG18', 'score': 3.94}, {'connected_gene': 'GC06M030355', 'score': 0.77}, {'connected_gene': 'ENSG00000252228', 'score': 0.77}]
chr6 GH06I030171 30171847 30173572 0.52 [{'connected_gene': 'TRIM31', 'score': 37.91}, {'connected_gene': 'HLA-U', 'score': 32.75}, {'connected_gene': 'HLA-K', 'score': 15.38}, {'connected_gene': 'TRIM31-AS1', 'score': 12.35}, {'connected_gene': 'HCG4', 'score': 9.52}, {'connected_gene': 'HCG18', 'score': 5.49}, {'connected_gene': 'TRIM40', 'score': 4.9}, {'connected_gene': 'HCG4B', 'score': 4.17}, {'connected_gene': 'TRIM10', 'score': 0.44}, {'connected_gene': 'TRIM15', 'score': 0.44}, {'connected_gene': 'PAIP1P1', 'score': 0.37}]
chr6 GH06I030162 30162370 30165161 1.51 [{'connected_gene': 'TRIM10', 'score': 550.77}, {'connected_gene': 'TRIM15', 'score': 550.77}, {'connected_gene': 'MDC1', 'score': 161.69}, {'connected_gene': 'GTF2H4', 'score': 119.37}, {'connected_gene': 'HCG18', 'score': 107.07}, {'connected_gene': 'ZNRD1ASP', 'score': 96.85}, {'connected_gene': 'PPP1R10', 'score': 73.27}, {'connected_gene': 'TRIM39', 'score': 72.64}, {'connected_gene': 'ETF1P1', 'score': 63.36}, {'connected_gene': 'PAIP1P1', 'score': 60.79}, {'connected_gene': 'DHX16', 'score': 58.05}, {'connected_gene': 'HLA-U', 'score': 53.35}, {'connected_gene': 'HCG4P7', 'score': 48.03}, {'connected_gene': 'TRIM26', 'score': 43.7}, {'connected_gene': 'TCF19', 'score': 42.07}, {'connected_gene': 'CCHCR1', 'score': 41.89}, {'connected_gene': 'ATAT1', 'score': 37.59}, {'connected_gene': 'HLA-H', 'score': 31.17}, {'connected_gene': 'GNL1', 'score': 31.11}, {'connected_gene': 'ABCF1', 'score': 30.18}, {'connected_gene': 'ZNRD1', 'score': 29.88}, {'connected_gene': 'HLA-F-AS1', 'score': 24.83}, {'connected_gene': 'HLA-K', 'score': 24.72}, {'connected_gene': 'HCG17', 'score': 23.42}, {'connected_gene': 'MICD', 'score': 23.0}, {'connected_gene': 'MICE', 'score': 21.61}, {'connected_gene': 'PRR3', 'score': 20.88}, {'connected_gene': 'ENSG00000272540', 'score': 20.38}, {'connected_gene': 'HLA-W', 'score': 13.4}, {'connected_gene': 'NRM', 'score': 12.52}, {'connected_gene': 'TRIM31', 'score': 11.96}, {'connected_gene': 'TRIM31-AS1', 'score': 11.95}, {'connected_gene': 'HCG9P5', 'score': 11.55}, {'connected_gene': 'GABBR1', 'score': 11.09}, {'connected_gene': 'RPP21', 'score': 10.99}, {'connected_gene': 'HCG4P3', 'score': 10.61}, {'connected_gene': 'HLA-J', 'score': 10.42}, {'connected_gene': 'SUMO2P1', 'score': 9.66}, {'connected_gene': 'RPL23AP1', 'score': 6.08}, {'connected_gene': 'TRIM40', 'score': 4.51}]
chr6 GH06I030160 30160889 30160948 0.5 [{'connected_gene': 'TRIM10', 'score': 550.77}, {'connected_gene': 'TRIM15', 'score': 0.77}, {'connected_gene': 'TRIM40', 'score': 0.31}]
chr6 GH06I030527 30527261 30530799 1.67 [{'connected_gene': 'GC06M030528', 'score': 550.77}, {'connected_gene': 'IER3', 'score': 18.33}, {'connected_gene': 'PRR3', 'score': 14.1}, {'connected_gene': 'MICD', 'score': 13.13}, {'connected_gene': 'GNL1', 'score': 12.63}, {'connected_gene': 'HCG18', 'score': 11.41}, {'connected_gene': 'ABCF1', 'score': 10.84}, {'connected_gene': 'HLA-C', 'score': 10.65}, {'connected_gene': 'TRIM39', 'score': 10.5}, {'connected_gene': 'C6orf136', 'score': 10.29}, {'connected_gene': 'PPP1R10', 'score': 9.9}, {'connected_gene': 'PPP1R18', 'score': 9.19}, {'connected_gene': 'HLA-E', 'score': 8.14}, {'connected_gene': 'VARS2', 'score': 6.8}, {'connected_gene': 'TRIM39-RPP21', 'score': 6.48}, {'connected_gene': 'DHX16', 'score': 6.23}, {'connected_gene': 'HLA-K', 'score': 4.52}, {'connected_gene': 'HLA-L', 'score': 4.23}, {'connected_gene': 'MUC22', 'score': 4.18}, {'connected_gene': 'IFITM4P', 'score': 4.06}, {'connected_gene': 'PPP1R11', 'score': 3.49}, {'connected_gene': 'TRIM26', 'score': 3.19}, {'connected_gene': 'FLOT1', 'score': 2.96}, {'connected_gene': 'TRIM40', 'score': 2.11}, {'connected_gene': 'ATAT1', 'score': 1.9}, {'connected_gene': 'LINC02569', 'score': 0.39}]
chr6 GH06I030122 30122345 30123835 0.49 [{'connected_gene': 'GC06M030307', 'score': 550.77}, {'connected_gene': 'GC06M030320', 'score': 550.77}, {'connected_gene': 'GC06M030308', 'score': 550.77}, {'connected_gene': 'GC06M030316', 'score': 550.77}, {'connected_gene': 'PIR32445', 'score': 550.77}, {'connected_gene': 'GC06M030297', 'score': 550.77}, {'connected_gene': 'GC06M030309', 'score': 550.77}, {'connected_gene': 'GC06M030318', 'score': 550.77}, {'connected_gene': 'GC06M030322', 'score': 550.77}, {'connected_gene': 'HLA-U', 'score': 35.43}, {'connected_gene': 'TRIM40', 'score': 31.88}, {'connected_gene': 'VARS2', 'score': 9.82}, {'connected_gene': 'HLA-W', 'score': 4.89}, {'connected_gene': 'GC06M030351', 'score': 0.77}, {'connected_gene': 'GC06M030332', 'score': 0.77}, {'connected_gene': 'GC06M030335', 'score': 0.77}, {'connected_gene': 'GC06M030350', 'score': 0.77}, {'connected_gene': 'GC06M030347', 'score': 0.77}, {'connected_gene': 'PIR48265', 'score': 0.77}, {'connected_gene': 'GC06M030333', 'score': 0.77}]

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