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
ENST00000480891 [[12895707, 12896362], [12897003, 12897148], [12897741, 12897820], [12898080, 12898201], [12898279, 12898379], [12899019, 12899129], [12899256, 12899295], [12899863, 12900002], [12901728, 12901825], [12903472, 12903591], [12905590, 12905676], [12905757, 12905896], [12906795, 12906891], [12908305, 12908418], [12909069, 12909142], [12909237, 12909863]] None
ENST00000484122 [[12895707, 12896362], [12897003, 12897148], [12897741, 12897820], [12898080, 12898201], [12898279, 12898379], [12899019, 12899129], [12899256, 12900002], [12901728, 12901825], [12903472, 12903591], [12905590, 12905676], [12905757, 12905896], [12906795, 12906891], [12908305, 12908418], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12914979, 12915099], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920945]] None
ENST00000338034 [[12895707, 12896362], [12897003, 12897148], [12897741, 12897820], [12898080, 12898201], [12898279, 12898379], [12899019, 12899129], [12899256, 12899295], [12899863, 12900002], [12901728, 12901825], [12903472, 12903591], [12905590, 12905676], [12905757, 12905896], [12906795, 12906891], [12908305, 12908418], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12914979, 12915099], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920438], [12921019, 12921504]] [[12896134, 12896362], [12897003, 12897148], [12897741, 12897820], [12898080, 12898201], [12898279, 12898379], [12899019, 12899129], [12899256, 12899295], [12899863, 12900002], [12901728, 12901825], [12903472, 12903591], [12905590, 12905676], [12905757, 12905896], [12906795, 12906891], [12908305, 12908418], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12914979, 12915099], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920438], [12921019, 12921264]]
ENST00000395962 [[12895708, 12896362], [12897003, 12897148], [12897741, 12897820], [12898080, 12898201], [12898279, 12898379], [12899019, 12899129], [12899256, 12899295], [12899863, 12900002], [12901728, 12901825], [12903472, 12903591], [12905590, 12905676], [12905757, 12905896], [12906795, 12906891], [12908305, 12908418], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12914979, 12915099], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920415], [12921053, 12921338]] [[12896134, 12896362], [12897003, 12897148], [12897741, 12897820], [12898080, 12898201], [12898279, 12898379], [12899019, 12899129], [12899256, 12899295], [12899863, 12900002], [12901728, 12901825], [12903472, 12903591], [12905590, 12905676], [12905757, 12905896], [12906795, 12906891], [12908305, 12908418], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12914979, 12915099], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920415], [12921053, 12921264]]
ENST00000465825 [[12895709, 12896362], [12897003, 12897148], [12897741, 12897820], [12898080, 12898201], [12898279, 12898379], [12899019, 12899129], [12899256, 12900002], [12901728, 12901825], [12903472, 12904214]] None
ENST00000487229 [[12895709, 12896362], [12897003, 12897148], [12897741, 12897820], [12898080, 12898201], [12898279, 12898379], [12899019, 12899129], [12899256, 12899295], [12899863, 12900002], [12901728, 12901825], [12903472, 12903591], [12905590, 12905676], [12905762, 12905896], [12906795, 12907425]] None
ENST00000426905 [[12895876, 12896362], [12897003, 12897148], [12897741, 12897820], [12898080, 12898201], [12898279, 12898379], [12899019, 12899129], [12899256, 12899295], [12899863, 12900002], [12901728, 12901825], [12903472, 12903591], [12905590, 12905676], [12905757, 12905896], [12906795, 12906891], [12908305, 12908418], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920438], [12921019, 12921316]] [[12896134, 12896362], [12897003, 12897148], [12897741, 12897820], [12898080, 12898201], [12898279, 12898379], [12899019, 12899129], [12899256, 12899295], [12899863, 12900002], [12901728, 12901825], [12903472, 12903591], [12905590, 12905676], [12905757, 12905896], [12906795, 12906891], [12908305, 12908418], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920438], [12921019, 12921264]]
ENST00000584650 [[12895927, 12896362], [12897003, 12897148], [12897741, 12897820], [12898080, 12898201], [12898279, 12898379], [12899019, 12899129], [12899256, 12899295], [12899863, 12900002], [12901728, 12901825], [12903472, 12903591], [12905590, 12905676], [12905757, 12905896], [12906795, 12906816], [12908305, 12908418], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12914979, 12915099], [12916523, 12916556]] [[12896134, 12896362], [12897003, 12897148], [12897741, 12897820], [12898080, 12898201], [12898279, 12898379], [12899019, 12899129], [12899256, 12899295], [12899863, 12900002], [12901728, 12901825], [12903472, 12903591], [12905590, 12905676], [12905757, 12905896], [12906795, 12906816], [12908305, 12908418], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12914979, 12915099], [12916523, 12916556]]
ENST00000491478 [[12897746, 12897820], [12898080, 12898379], [12899019, 12899129], [12899256, 12899295], [12899863, 12900002], [12901728, 12901825]] None
ENST00000492559 [[12899019, 12899129], [12899256, 12899295], [12899863, 12900002], [12901728, 12901825], [12903472, 12903591], [12905590, 12905701]] None
ENST00000446899 [[12901728, 12901825], [12903472, 12903591], [12905590, 12905676], [12905757, 12905896], [12906795, 12906891], [12908305, 12908427], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12914979, 12914987]] [[12901728, 12901825], [12903472, 12903591], [12905590, 12905676], [12905757, 12905896], [12906795, 12906891], [12908305, 12908427], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12914979, 12914987]]
ENST00000578991 [[12901765, 12901825], [12903472, 12903591], [12905590, 12905676], [12905757, 12906042]] None
ENST00000476042 [[12903493, 12903591], [12905590, 12905676], [12905757, 12905896], [12906766, 12906871]] [[12905864, 12905896], [12906766, 12906871]]
ENST00000578104 [[12903541, 12903591], [12905590, 12905896], [12906795, 12907103]] None
ENST00000609345 [[12906822, 12906891], [12908305, 12908418], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12914979, 12915099], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920242], [12920387, 12920438], [12920883, 12920932]] None
ENST00000609101 [[12906865, 12906891], [12908305, 12908418], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12914979, 12915099], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920438], [12920898, 12921000]] [[12906865, 12906891], [12908305, 12908418], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12914979, 12915099], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920401]]
ENST00000580504 [[12909088, 12909142], [12909237, 12909296], [12913934, 12913988], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920438], [12920883, 12920981]] [[12909088, 12909142], [12909237, 12909296], [12913934, 12913988], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920401]]
ENST00000581499 [[12914979, 12915099], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920438], [12920813, 12920960]] [[12914979, 12915099], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920401]]
ENST00000609757 [[12915003, 12915099], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920438], [12920729, 12920907]] [[12915003, 12915099], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920401]]
ENST00000583371 [[12915009, 12915099], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920438], [12921307, 12921382]] [[12915009, 12915099], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920401]]
ENST00000578071 [[12915040, 12915099], [12916523, 12916592], [12919084, 12919149], [12920178, 12920249], [12920387, 12920438], [12921019, 12921283]] [[12916547, 12916592], [12919084, 12919149], [12920178, 12920249], [12920387, 12920438], [12921019, 12921264]]
NM_018127 [[12894928, 12896362], [12897003, 12897148], [12897741, 12897820], [12898080, 12898201], [12898279, 12898379], [12899019, 12899129], [12899256, 12899295], [12899863, 12900002], [12901728, 12901825], [12903472, 12903591], [12905590, 12905676], [12905757, 12905896], [12906795, 12906891], [12908305, 12908418], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12914979, 12915099], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920438], [12921019, 12921381]] [[12896134, 12896362], [12897003, 12897148], [12897741, 12897820], [12898080, 12898201], [12898279, 12898379], [12899019, 12899129], [12899256, 12899295], [12899863, 12900002], [12901728, 12901825], [12903472, 12903591], [12905590, 12905676], [12905757, 12905896], [12906795, 12906891], [12908305, 12908418], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12914979, 12915099], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920438], [12921019, 12921264]]
NM_173717 [[12894928, 12896362], [12897003, 12897148], [12897741, 12897820], [12898080, 12898201], [12898279, 12898379], [12899019, 12899129], [12899256, 12899295], [12899863, 12900002], [12901728, 12901825], [12903472, 12903591], [12905590, 12905673], [12905757, 12905896], [12906795, 12906891], [12908305, 12908418], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12914979, 12915099], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920438], [12921019, 12921381]] [[12896134, 12896362], [12897003, 12897148], [12897741, 12897820], [12898080, 12898201], [12898279, 12898379], [12899019, 12899129], [12899256, 12899295], [12899863, 12900002], [12901728, 12901825], [12903472, 12903591], [12905590, 12905673], [12905757, 12905896], [12906795, 12906891], [12908305, 12908418], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12914979, 12915099], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920438], [12921019, 12921264]]
NM_001165962 [[12894928, 12896362], [12897003, 12897148], [12897741, 12897820], [12898080, 12898201], [12898279, 12898379], [12899019, 12899129], [12899256, 12899295], [12899863, 12900002], [12901728, 12901825], [12903472, 12903591], [12905590, 12905676], [12905757, 12905896], [12906795, 12906891], [12908305, 12908418], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920438], [12921019, 12921381]] [[12896134, 12896362], [12897003, 12897148], [12897741, 12897820], [12898080, 12898201], [12898279, 12898379], [12899019, 12899129], [12899256, 12899295], [12899863, 12900002], [12901728, 12901825], [12903472, 12903591], [12905590, 12905676], [12905757, 12905896], [12906795, 12906891], [12908305, 12908418], [12909069, 12909142], [12909237, 12909296], [12913929, 12913988], [12916523, 12916592], [12917755, 12917813], [12919084, 12919149], [12920178, 12920249], [12920387, 12920438], [12921019, 12921264]]
Promoter
Chrom Start End Description
chr17 12920524 12920527 CAGE_peak_8_at_ELAC2_5end
chr17 12920974 12920987 CAGE_peak_2_at_ELAC2_5end
chr17 12920994 12921005 CAGE_peak_3_at_ELAC2_5end
chr17 12921010 12921021 CAGE_peak_4_at_ELAC2_5end
chr17 12921250 12921261 CAGE_peak_5_at_ELAC2_5end
chr17 12921270 12921359 CAGE_peak_1_at_ELAC2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I013002 13002774 13003432 0.62 [{'connected_gene': 'ELAC2', 'score': 22.87}, {'connected_gene': 'ARHGAP44', 'score': 10.39}, {'connected_gene': 'PIR40121', 'score': 0.77}]
chr17 GH17I012976 12976801 12977808 0.38 [{'connected_gene': 'ELAC2', 'score': 16.97}, {'connected_gene': 'ENSG00000280168', 'score': 0.77}, {'connected_gene': 'ENSG00000277621', 'score': 0.44}, {'connected_gene': 'ARHGAP44', 'score': 0.09}]
chr17 GH17I013024 13024201 13025200 0.92 [{'connected_gene': 'ELAC2', 'score': 18.06}, {'connected_gene': 'CDRT15P1', 'score': 10.11}, {'connected_gene': 'ENSG00000273098', 'score': 0.19}]
chr17 GH17I013025 13025289 13025622 0.6 [{'connected_gene': 'ELAC2', 'score': 10.1}, {'connected_gene': 'MYOCD', 'score': 1.86}, {'connected_gene': 'ENSG00000273098', 'score': 0.19}]
chr17 GH17I013030 13030544 13030693 0.56 [{'connected_gene': 'ELAC2', 'score': 0.39}, {'connected_gene': 'ENSG00000273098', 'score': 0.2}]
chr17 GH17I013031 13031904 13032200 0.77 [{'connected_gene': 'ELAC2', 'score': 0.39}, {'connected_gene': 'ENSG00000273098', 'score': 0.21}]
chr17 GH17I013016 13016447 13019236 2.06 [{'connected_gene': 'ELAC2', 'score': 581.84}, {'connected_gene': 'PIR40121', 'score': 0.37}]
chr17 GH17I013044 13044804 13045033 0.38 [{'connected_gene': 'ELAC2', 'score': 0.31}, {'connected_gene': 'ENSG00000273098', 'score': 0.23}]
chr17 GH17I012983 12983750 12986351 0.88 [{'connected_gene': 'GC17P012984', 'score': 550.77}, {'connected_gene': 'ELAC2', 'score': 20.47}, {'connected_gene': 'PIR37245', 'score': 0.77}, {'connected_gene': 'ARHGAP44', 'score': 0.08}]
chr17 GH17I013086 13086264 13086413 0.2 [{'connected_gene': 'ENSG00000273098', 'score': 0.44}, {'connected_gene': 'ELAC2', 'score': 0.2}]

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