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
ENST00000456101 [[109765264, 109765542], [109765927, 109766001], [109766098, 109766198], [109766399, 109766493], [109766618, 109766732], [109766973, 109767065], [109767338, 109767560], [109767898, 109767975], [109768275, 109768432], [109768559, 109768643], [109768883, 109768925], [109769077, 109769166], [109769405, 109769596], [109769934, 109770082], [109770602, 109770684], [109770859, 109770986], [109771172, 109771288], [109771502, 109771760], [109772802, 109773604], [109773713, 109773818], [109774465, 109774570], [109774840, 109775048], [109775141, 109775442], [109775882, 109776093], [109776813, 109776848]] None
ENST00000358807 [[109765264, 109765542], [109765927, 109766001], [109766098, 109766198], [109766399, 109766493], [109766618, 109766732], [109766973, 109767065], [109767338, 109767615], [109767898, 109767975], [109768275, 109768432], [109768559, 109768643], [109768883, 109768925], [109769077, 109769166], [109769405, 109769596], [109769934, 109770082], [109770602, 109770684], [109770859, 109770986], [109771172, 109771288], [109771502, 109771760], [109772802, 109772903], [109773448, 109773604], [109773713, 109773818], [109774465, 109774570], [109774840, 109775048], [109775141, 109775442], [109776921, 109777190]] [[109765393, 109765542], [109765927, 109766001], [109766098, 109766198], [109766399, 109766493], [109766618, 109766732], [109766973, 109767065], [109767338, 109767615], [109767898, 109767975], [109768275, 109768432], [109768559, 109768643], [109768883, 109768925], [109769077, 109769166], [109769405, 109769596], [109769934, 109770082], [109770602, 109770684], [109770859, 109770986], [109771172, 109771288], [109771502, 109771760], [109772802, 109772903], [109773448, 109773604], [109773713, 109773818], [109774465, 109774570], [109774840, 109775048], [109775141, 109775399]]
ENST00000465904 [[109765267, 109765542], [109765927, 109766001], [109766098, 109766198], [109766399, 109766493], [109766618, 109766732], [109766973, 109767065], [109767338, 109767975], [109768275, 109770986], [109771172, 109771456]] None
ENST00000358577 [[109765267, 109765542], [109765927, 109766001], [109766098, 109766198], [109766399, 109766493], [109766618, 109766732], [109766973, 109767065], [109767338, 109767615], [109767898, 109767975], [109768275, 109768432], [109768559, 109768643], [109768883, 109768925], [109769077, 109769166], [109769405, 109769596], [109769934, 109770082], [109770602, 109770684], [109770859, 109770986], [109771172, 109771288], [109772802, 109772903], [109773448, 109773604], [109773713, 109773818], [109774465, 109774570], [109774840, 109775048], [109775141, 109775442], [109776921, 109777190]] [[109765393, 109765542], [109765927, 109766001], [109766098, 109766198], [109766399, 109766493], [109766618, 109766732], [109766973, 109767065], [109767338, 109767615], [109767898, 109767975], [109768275, 109768432], [109768559, 109768643], [109768883, 109768925], [109769077, 109769166], [109769405, 109769596], [109769934, 109770082], [109770602, 109770684], [109770859, 109770986], [109771172, 109771288], [109772802, 109772903], [109773448, 109773604], [109773713, 109773818], [109774465, 109774570], [109774840, 109775048], [109775141, 109775399]]
ENST00000368952 [[109765267, 109765542], [109765927, 109766001], [109766098, 109766198], [109766399, 109766493], [109766618, 109766732], [109766973, 109767065], [109767338, 109767615], [109767898, 109767975], [109768275, 109768432], [109768559, 109768643], [109768883, 109768925], [109769077, 109769166], [109769405, 109769596], [109769934, 109770082], [109770602, 109770684], [109770859, 109770986], [109771172, 109771288], [109771502, 109771760], [109772802, 109772903], [109773448, 109773604], [109773713, 109773818], [109774465, 109774570], [109774840, 109775048], [109775141, 109775442], [109786866, 109787171]] [[109765393, 109765542], [109765927, 109766001], [109766098, 109766198], [109766399, 109766493], [109766618, 109766732], [109766973, 109767065], [109767338, 109767615], [109767898, 109767975], [109768275, 109768432], [109768559, 109768643], [109768883, 109768925], [109769077, 109769166], [109769405, 109769596], [109769934, 109770082], [109770602, 109770684], [109770859, 109770986], [109771172, 109771288], [109771502, 109771760], [109772802, 109772903], [109773448, 109773604], [109773713, 109773818], [109774465, 109774570], [109774840, 109775048], [109775141, 109775442], [109786866, 109786880]]
ENST00000433205 [[109768559, 109768643], [109768883, 109768925], [109769077, 109769166], [109769405, 109769596], [109769934, 109770073], [109770602, 109770684], [109770859, 109770986]] [[109768559, 109768643], [109768883, 109768925], [109769077, 109769166], [109769405, 109769596], [109769934, 109770073], [109770602, 109770684], [109770859, 109770986]]
ENST00000483856 [[109772931, 109773322], [109773448, 109773604], [109773713, 109773734]] None
ENST00000431946 [[109773548, 109773604], [109773713, 109773818], [109774465, 109774570], [109774840, 109775048], [109775141, 109775442], [109776813, 109776925]] [[109773548, 109773604], [109773713, 109773818], [109774465, 109774570], [109774840, 109775048], [109775141, 109775399]]
NM_022765 [[109765264, 109765542], [109765927, 109766001], [109766098, 109766198], [109766399, 109766493], [109766618, 109766732], [109766973, 109767065], [109767338, 109767615], [109767898, 109767975], [109768275, 109768432], [109768559, 109768643], [109768883, 109768925], [109769077, 109769166], [109769405, 109769596], [109769934, 109770082], [109770602, 109770684], [109770859, 109770986], [109771172, 109771288], [109771502, 109771760], [109772802, 109772903], [109773448, 109773604], [109773713, 109773818], [109774465, 109774570], [109774840, 109775048], [109775141, 109775442], [109776921, 109777190]] [[109765393, 109765542], [109765927, 109766001], [109766098, 109766198], [109766399, 109766493], [109766618, 109766732], [109766973, 109767065], [109767338, 109767615], [109767898, 109767975], [109768275, 109768432], [109768559, 109768643], [109768883, 109768925], [109769077, 109769166], [109769405, 109769596], [109769934, 109770082], [109770602, 109770684], [109770859, 109770986], [109771172, 109771288], [109771502, 109771760], [109772802, 109772903], [109773448, 109773604], [109773713, 109773818], [109774465, 109774570], [109774840, 109775048], [109775141, 109775399]]
NM_001159291 [[109765264, 109765542], [109765927, 109766001], [109766098, 109766198], [109766399, 109766493], [109766618, 109766732], [109766973, 109767065], [109767338, 109767615], [109767898, 109767975], [109768275, 109768432], [109768559, 109768643], [109768883, 109768925], [109769077, 109769166], [109769405, 109769596], [109769934, 109770082], [109770602, 109770684], [109770859, 109770986], [109771172, 109771288], [109772802, 109772903], [109773448, 109773604], [109773713, 109773818], [109774465, 109774570], [109774840, 109775048], [109775141, 109775442], [109776921, 109777190]] [[109765393, 109765542], [109765927, 109766001], [109766098, 109766198], [109766399, 109766493], [109766618, 109766732], [109766973, 109767065], [109767338, 109767615], [109767898, 109767975], [109768275, 109768432], [109768559, 109768643], [109768883, 109768925], [109769077, 109769166], [109769405, 109769596], [109769934, 109770082], [109770602, 109770684], [109770859, 109770986], [109771172, 109771288], [109772802, 109772903], [109773448, 109773604], [109773713, 109773818], [109774465, 109774570], [109774840, 109775048], [109775141, 109775399]]
NM_001286613 [[109765264, 109765542], [109765927, 109766001], [109766098, 109766198], [109766399, 109766493], [109766618, 109766732], [109766973, 109767065], [109767338, 109767615], [109767898, 109767975], [109768275, 109768432], [109768559, 109768643], [109768883, 109768925], [109769077, 109769166], [109769405, 109769596], [109769934, 109770082], [109770602, 109770684], [109770859, 109770986], [109771172, 109771288], [109771502, 109771760], [109772802, 109772903], [109773448, 109773604], [109773713, 109773818], [109774465, 109774570], [109774840, 109775048], [109775141, 109775442], [109786866, 109787171]] [[109765393, 109765542], [109765927, 109766001], [109766098, 109766198], [109766399, 109766493], [109766618, 109766732], [109766973, 109767065], [109767338, 109767615], [109767898, 109767975], [109768275, 109768432], [109768559, 109768643], [109768883, 109768925], [109769077, 109769166], [109769405, 109769596], [109769934, 109770082], [109770602, 109770684], [109770859, 109770986], [109771172, 109771288], [109771502, 109771760], [109772802, 109772903], [109773448, 109773604], [109773713, 109773818], [109774465, 109774570], [109774840, 109775048], [109775141, 109775442], [109786866, 109786880]]
Promoter
Chrom Start End Description
chr6 109775447 109775474 CAGE_peak_4_at_MICAL1_5end
chr6 109775475 109775501 CAGE_peak_8_at_MICAL1_5end
chr6 109775911 109775914 CAGE_peak_25_at_MICAL1_5end
chr6 109775947 109775958 CAGE_peak_14_at_MICAL1_5end
chr6 109776788 109776819 CAGE_peak_5_at_MICAL1_5end
chr6 109776901 109776994 CAGE_peak_1_at_MICAL1_5end
chr6 109777078 109777102 CAGE_peak_2_at_MICAL1_5end
chr6 109777128 109777203 CAGE_peak_3_at_MICAL1_5end
chr6 109777585 109777596 CAGE_peak_19_at_MICAL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I109481 109481878 109484933 2.37 [{'connected_gene': 'ZBTB24', 'score': 557.9}, {'connected_gene': 'LOC105377935', 'score': 550.77}, {'connected_gene': 'SMPD2', 'score': 23.02}, {'connected_gene': 'ENSG00000260273', 'score': 11.98}, {'connected_gene': 'PPIL6', 'score': 6.24}, {'connected_gene': 'MICAL1', 'score': 3.57}, {'connected_gene': 'SESN1', 'score': 2.2}, {'connected_gene': 'AK9', 'score': 0.08}]
chr6 GH06I109771 109771208 109773820 1.34 [{'connected_gene': 'SMPD2', 'score': 14.04}, {'connected_gene': 'ZBTB24', 'score': 10.8}, {'connected_gene': 'CEP57L1', 'score': 10.73}, {'connected_gene': 'FIG4', 'score': 10.11}, {'connected_gene': 'ENSG00000260273', 'score': 9.97}, {'connected_gene': 'CCDC162P', 'score': 8.49}, {'connected_gene': 'MICAL1', 'score': 3.23}, {'connected_gene': 'CDC40', 'score': 1.78}, {'connected_gene': 'AK9', 'score': 1.48}, {'connected_gene': 'CD164', 'score': 1.25}, {'connected_gene': 'GC06M109753', 'score': 0.37}, {'connected_gene': 'ENSG00000232311', 'score': 0.23}]
chr6 GH06I109445 109445464 109446830 0.62 [{'connected_gene': 'SMPD2', 'score': 22.83}, {'connected_gene': 'ENSG00000260273', 'score': 13.01}, {'connected_gene': 'ZBTB24', 'score': 11.72}, {'connected_gene': 'LOC105377935', 'score': 11.09}, {'connected_gene': 'PPIL6', 'score': 0.77}, {'connected_gene': 'PIR52480', 'score': 0.44}, {'connected_gene': 'MICAL1', 'score': 0.37}]
chr6 GH06I109449 109449612 109450568 0.63 [{'connected_gene': 'SMPD2', 'score': 22.53}, {'connected_gene': 'ZBTB24', 'score': 11.73}, {'connected_gene': 'LOC105377935', 'score': 11.11}, {'connected_gene': 'AK9', 'score': 5.13}, {'connected_gene': 'PIR52480', 'score': 0.77}, {'connected_gene': 'PPIL6', 'score': 0.44}, {'connected_gene': 'MICAL1', 'score': 0.37}]
chr6 GH06I109343 109343546 109345007 0.77 [{'connected_gene': 'SMPD2', 'score': 21.85}, {'connected_gene': 'ENSG00000260273', 'score': 11.62}, {'connected_gene': 'MICAL1', 'score': 9.28}, {'connected_gene': 'FIG4', 'score': 5.9}, {'connected_gene': 'LOC101927538', 'score': 0.44}, {'connected_gene': 'RPL7P28', 'score': 0.37}, {'connected_gene': 'CCDC162P', 'score': 0.1}]
chr6 GH06I109461 109461408 109462896 0.82 [{'connected_gene': 'SMPD2', 'score': 31.43}, {'connected_gene': 'MICAL1', 'score': 14.13}, {'connected_gene': 'ZBTB24', 'score': 10.93}, {'connected_gene': 'LOC105377935', 'score': 10.93}, {'connected_gene': 'PPIL6', 'score': 10.67}, {'connected_gene': 'PIR52480', 'score': 0.44}]
chr6 GH06I109503 109503396 109504327 0.56 [{'connected_gene': 'SMPD2', 'score': 22.82}, {'connected_gene': 'MICAL1', 'score': 5.1}, {'connected_gene': 'ZBTB24', 'score': 0.34}, {'connected_gene': 'LOC105377935', 'score': 0.34}, {'connected_gene': 'AK9', 'score': 0.09}]
chr6 GH06I109477 109477403 109479573 0.69 [{'connected_gene': 'SMPD2', 'score': 21.83}, {'connected_gene': 'MICAL1', 'score': 13.87}, {'connected_gene': 'ENSG00000260273', 'score': 12.39}, {'connected_gene': 'ZBTB24', 'score': 0.77}, {'connected_gene': 'PIR51656', 'score': 0.77}]
chr6 GH06I109391 109390801 109391599 1.06 [{'connected_gene': 'SMPD2', 'score': 22.92}, {'connected_gene': 'MICAL1', 'score': 12.72}, {'connected_gene': 'PIR52905', 'score': 0.77}, {'connected_gene': 'GC06P109389', 'score': 0.77}, {'connected_gene': 'PPIL6', 'score': 0.25}]
chr6 GH06I109356 109356665 109357924 0.31 [{'connected_gene': 'SMPD2', 'score': 21.66}, {'connected_gene': 'ENSG00000260273', 'score': 15.36}, {'connected_gene': 'MICAL1', 'score': 13.5}, {'connected_gene': 'CCDC162P', 'score': 4.24}, {'connected_gene': 'LOC101927538', 'score': 0.44}, {'connected_gene': 'CD164', 'score': 0.31}]
chr6 GH06I109346 109346747 109348821 0.74 [{'connected_gene': 'SMPD2', 'score': 21.79}, {'connected_gene': 'MICAL1', 'score': 9.28}, {'connected_gene': 'LOC101927538', 'score': 0.77}, {'connected_gene': 'RPL7P28', 'score': 0.37}, {'connected_gene': 'CCDC162P', 'score': 0.09}]
chr6 GH06I109438 109438892 109442315 2.03 [{'connected_gene': 'SMPD2', 'score': 582.21}, {'connected_gene': 'PPIL6', 'score': 550.77}, {'connected_gene': 'ZBTB24', 'score': 26.73}, {'connected_gene': 'ENSG00000260273', 'score': 13.0}, {'connected_gene': 'AK9', 'score': 10.5}, {'connected_gene': 'MICAL1', 'score': 5.65}, {'connected_gene': 'FIG4', 'score': 5.18}, {'connected_gene': 'PIR52905', 'score': 0.23}, {'connected_gene': 'GC06P109389', 'score': 0.23}]
chr6 GH06I109490 109490275 109492437 0.92 [{'connected_gene': 'SMPD2', 'score': 21.23}, {'connected_gene': 'AK9', 'score': 10.85}, {'connected_gene': 'MICAL1', 'score': 10.68}, {'connected_gene': 'PPIL6', 'score': 10.33}, {'connected_gene': 'ZBTB24', 'score': 0.44}, {'connected_gene': 'LOC105377935', 'score': 0.44}]
chr6 GH06I109338 109338029 109342028 0.8 [{'connected_gene': 'SMPD2', 'score': 21.92}, {'connected_gene': 'CCDC162P', 'score': 16.73}, {'connected_gene': 'ENSG00000260273', 'score': 12.87}, {'connected_gene': 'PTCHD3P3', 'score': 11.67}, {'connected_gene': 'ENSG00000233908', 'score': 11.66}, {'connected_gene': 'CD164', 'score': 11.6}, {'connected_gene': 'PPIL6', 'score': 10.99}, {'connected_gene': 'MICAL1', 'score': 7.35}, {'connected_gene': 'RPL7P28', 'score': 0.39}, {'connected_gene': 'LOC101927538', 'score': 0.39}]
chr6 GH06I109366 109366898 109368728 0.31 [{'connected_gene': 'SMPD2', 'score': 22.65}, {'connected_gene': 'ENSG00000260273', 'score': 15.45}, {'connected_gene': 'PTCHD3P3', 'score': 10.83}, {'connected_gene': 'ENSG00000233908', 'score': 10.83}, {'connected_gene': 'CCDC162P', 'score': 10.73}, {'connected_gene': 'MICAL1', 'score': 10.58}, {'connected_gene': 'CD164', 'score': 0.39}, {'connected_gene': 'LOC101927538', 'score': 0.37}]
chr6 GH06I109472 109472438 109472587 0.69 [{'connected_gene': 'MICAL1', 'score': 0.44}, {'connected_gene': 'PIR51656', 'score': 0.44}, {'connected_gene': 'ZBTB24', 'score': 0.39}]
chr6 GH06I109453 109453244 109461075 2.67 [{'connected_gene': 'MICAL1', 'score': 567.49}, {'connected_gene': 'SMPD2', 'score': 25.09}, {'connected_gene': 'ZBTB24', 'score': 23.32}, {'connected_gene': 'METTL24', 'score': 13.62}, {'connected_gene': 'ENSG00000260273', 'score': 13.29}, {'connected_gene': 'LOC105377935', 'score': 11.31}, {'connected_gene': 'FOXO3', 'score': 9.8}, {'connected_gene': 'FIG4', 'score': 4.91}, {'connected_gene': 'PPIL6', 'score': 2.34}, {'connected_gene': 'CD164', 'score': 2.08}, {'connected_gene': 'PIR52480', 'score': 0.77}]
chr6 GH06I109465 109465278 109466603 1.13 [{'connected_gene': 'MICAL1', 'score': 564.13}, {'connected_gene': 'SMPD2', 'score': 21.08}, {'connected_gene': 'PIR52480', 'score': 0.39}, {'connected_gene': 'ZBTB24', 'score': 0.37}]
chr6 GH06I109891 109891246 109895555 1.05 [{'connected_gene': 'PPIL6', 'score': 6.12}, {'connected_gene': 'LOC105377938', 'score': 5.24}, {'connected_gene': 'FIG4', 'score': 2.24}, {'connected_gene': 'MICAL1', 'score': 1.86}, {'connected_gene': 'AK9', 'score': 1.59}, {'connected_gene': 'SMPD2', 'score': 1.31}, {'connected_gene': 'PIR51283', 'score': 0.39}, {'connected_gene': 'GPR6', 'score': 0.18}]
chr6 GH06I109241 109241338 109241586 0.96 [{'connected_gene': 'CCDC162P', 'score': 9.99}, {'connected_gene': 'CD164', 'score': 2.78}, {'connected_gene': 'MICAL1', 'score': 1.95}, {'connected_gene': 'SMPD2', 'score': 1.47}, {'connected_gene': 'LOC105377933', 'score': 0.34}]
chr6 GH06I109235 109235978 109240999 1.69 [{'connected_gene': 'CCDC162P', 'score': 13.88}, {'connected_gene': 'CD164', 'score': 9.83}, {'connected_gene': 'MICAL1', 'score': 2.85}, {'connected_gene': 'SMPD2', 'score': 2.34}, {'connected_gene': 'LOC105377933', 'score': 0.31}]
chr6 GH06I109349 109349128 109352487 1.49 [{'connected_gene': 'LOC101927538', 'score': 550.77}, {'connected_gene': 'SMPD2', 'score': 19.36}, {'connected_gene': 'ENSG00000260273', 'score': 15.51}, {'connected_gene': 'CD164', 'score': 12.21}, {'connected_gene': 'ENSG00000233908', 'score': 11.92}, {'connected_gene': 'PTCHD3P3', 'score': 11.92}, {'connected_gene': 'CCDC162P', 'score': 11.8}, {'connected_gene': 'MICAL1', 'score': 10.55}, {'connected_gene': 'FIG4', 'score': 4.16}, {'connected_gene': 'RPL7P28', 'score': 0.34}]
chr6 GH06I109450 109450758 109450825 0.51 [{'connected_gene': 'PIR52480', 'score': 550.77}, {'connected_gene': 'ZBTB24', 'score': 11.73}, {'connected_gene': 'LOC105377935', 'score': 11.11}, {'connected_gene': 'PPIL6', 'score': 0.44}, {'connected_gene': 'MICAL1', 'score': 0.37}]
chr6 GH06I109379 109379218 109385489 2.33 [{'connected_gene': 'ENSG00000260273', 'score': 565.43}, {'connected_gene': 'CD164', 'score': 550.77}, {'connected_gene': 'ZBTB24', 'score': 52.31}, {'connected_gene': 'SMPD2', 'score': 32.79}, {'connected_gene': 'MICAL1', 'score': 13.55}, {'connected_gene': 'AK9', 'score': 12.44}, {'connected_gene': 'PPIL6', 'score': 11.82}, {'connected_gene': 'ENSG00000233908', 'score': 10.45}, {'connected_gene': 'PTCHD3P3', 'score': 10.45}, {'connected_gene': 'CCDC162P', 'score': 10.37}, {'connected_gene': 'LOC105377935', 'score': 10.11}, {'connected_gene': 'CDC40', 'score': 9.86}, {'connected_gene': 'ENSG00000271730', 'score': 9.69}, {'connected_gene': 'FIG4', 'score': 5.38}, {'connected_gene': 'LOC101927538', 'score': 0.29}]
chr6 GH06I108967 108966601 108969214 1.32 [{'connected_gene': 'PIR34191', 'score': 550.77}, {'connected_gene': 'RNU6-653P', 'score': 10.88}, {'connected_gene': 'ARMC2-AS1', 'score': 10.6}, {'connected_gene': 'ENSG00000271730', 'score': 6.14}, {'connected_gene': 'AK9', 'score': 4.2}, {'connected_gene': 'FOXO3', 'score': 4.1}, {'connected_gene': 'MICAL1', 'score': 2.05}, {'connected_gene': 'SMPD2', 'score': 1.96}, {'connected_gene': 'ARMC2', 'score': 0.13}]

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