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
ENST00000308580 [[52121826, 52122033], [52155007, 52155207], [52161413, 52161570], [52179785, 52179908], [52181252, 52181342], [52186011, 52186142], [52188615, 52188723], [52192351, 52192495], [52194088, 52194233], [52200972, 52204335]] [[52155081, 52155207], [52161413, 52161570], [52179785, 52179908], [52181252, 52181342], [52186011, 52186142], [52188615, 52188723], [52192351, 52192495], [52194088, 52194233], [52200972, 52201007]]
ENST00000544199 [[52155034, 52155207], [52161413, 52161570], [52179785, 52179908], [52181252, 52181342], [52186011, 52186142], [52188615, 52188723], [52192351, 52192495], [52194088, 52194233], [52200972, 52201556], [52201787, 52202186]] [[52155081, 52155207], [52161413, 52161570], [52179785, 52179908], [52181252, 52181342], [52186011, 52186142], [52188615, 52188723], [52192351, 52192495], [52194088, 52194233], [52200972, 52201007]]
ENST00000558455 [[52121824, 52122033], [52127190, 52127255], [52155007, 52155180]] [[52155081, 52155180]]
ENST00000560549 [[52167222, 52167467], [52179785, 52179908], [52181252, 52181342], [52186011, 52186142], [52188615, 52188723], [52192351, 52192495], [52194088, 52194233], [52200972, 52201059], [52203210, 52203349], [52208211, 52208330], [52213692, 52213813], [52221629, 52221651]] [[52181263, 52181342], [52186011, 52186142], [52188615, 52188723], [52192351, 52192495], [52194088, 52194233], [52200972, 52201007]]
ENST00000561438 [[52186011, 52186142], [52188615, 52188723], [52192351, 52192495], [52194088, 52194233], [52200972, 52201073], [52203236, 52203349], [52208211, 52208330], [52223227, 52223505]] [[52186011, 52186142], [52188615, 52188723], [52192351, 52192495], [52194088, 52194233], [52200972, 52201007]]
ENST00000560725 [[52193462, 52193689], [52194088, 52194233], [52200972, 52201059], [52203236, 52203321]] None
ENST00000558714 [[52213690, 52213813], [52226446, 52226551], [52239186, 52239492]] None
ENST00000559202 [[52213705, 52213813], [52239186, 52239491]] None
ENST00000558666 [[52216588, 52216775], [52223227, 52223505]] None
ENST00000561408 [[52223248, 52223330], [52226446, 52226551], [52239186, 52239492]] None
ENST00000561136 [[52226173, 52226551], [52228826, 52229251]] None
ENST00000558300 [[52226399, 52226551], [52239186, 52239464]] None
NM_014547 [[52121824, 52122033], [52155007, 52155207], [52161413, 52161570], [52179785, 52179908], [52181252, 52181342], [52186011, 52186142], [52188615, 52188723], [52192351, 52192495], [52194088, 52194233], [52200972, 52204335]] [[52155081, 52155207], [52161413, 52161570], [52179785, 52179908], [52181252, 52181342], [52186011, 52186142], [52188615, 52188723], [52192351, 52192495], [52194088, 52194233], [52200972, 52201007]]
Promoter
Chrom Start End Description
chr15 52121822 52121833 CAGE_peak_3_at_TMOD3_5end
chr15 52121841 52121892 CAGE_peak_1_at_TMOD3_5end
chr15 52121893 52121929 CAGE_peak_2_at_TMOD3_5end
chr15 52121977 52121988 CAGE_peak_4_at_TMOD3_5end
chr15 52155001 52155006 CAGE_peak_22_at_TMOD3_5end
chr15 52201692 52201696 CAGE_peak_6_at_TMOD3_5end
chr15 52216569 52216591 CAGE_peak_12_at_TMOD3_5end
chr15 52216609 52216628 CAGE_peak_14_at_TMOD3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I052252 52252150 52253962 1.25 [{'connected_gene': 'MAPK6', 'score': 8.93}, {'connected_gene': 'TMOD3', 'score': 6.66}, {'connected_gene': 'GC15M057316', 'score': 0.34}, {'connected_gene': 'GC15M056837', 'score': 0.34}, {'connected_gene': 'LOC105370820', 'score': 0.31}, {'connected_gene': 'MYO5C', 'score': 0.26}]
chr15 GH15I052231 52231236 52236468 1.38 [{'connected_gene': 'MYO5C', 'score': 22.07}, {'connected_gene': 'GNB5', 'score': 16.33}, {'connected_gene': 'MIR1266', 'score': 11.7}, {'connected_gene': 'TMOD3', 'score': 6.36}, {'connected_gene': 'FAM214A', 'score': 2.15}, {'connected_gene': 'LOC105370820', 'score': 0.44}, {'connected_gene': 'GC15M057316', 'score': 0.26}, {'connected_gene': 'GC15M056837', 'score': 0.26}]
chr15 GH15I051828 51828036 51832030 2.47 [{'connected_gene': 'TMOD3', 'score': 558.58}, {'connected_gene': 'LYSMD2', 'score': 29.03}, {'connected_gene': 'LOC100422556', 'score': 6.91}, {'connected_gene': 'DMXL2', 'score': 6.67}, {'connected_gene': 'GNB5', 'score': 4.41}, {'connected_gene': 'ENSG00000274954', 'score': 0.77}]
chr15 GH15I051868 51868309 51869813 0.7 [{'connected_gene': 'TMOD3', 'score': 21.3}, {'connected_gene': 'LYSMD2', 'score': 18.12}, {'connected_gene': 'LOC100422490', 'score': 0.44}, {'connected_gene': 'GC15P051886', 'score': 0.37}]
chr15 GH15I052257 52257001 52258087 0.87 [{'connected_gene': 'TMOD3', 'score': 6.66}, {'connected_gene': 'GC15M057316', 'score': 0.37}, {'connected_gene': 'GC15M056837', 'score': 0.37}, {'connected_gene': 'LOC105370820', 'score': 0.29}, {'connected_gene': 'MYO5C', 'score': 0.28}]
chr15 GH15I051888 51888704 51888853 0.65 [{'connected_gene': 'TMOD3', 'score': 11.04}, {'connected_gene': 'ENSG00000207484', 'score': 0.77}, {'connected_gene': 'ENSG00000259201', 'score': 0.39}, {'connected_gene': 'GC15M057424', 'score': 0.39}]
chr15 GH15I051980 51980888 51983269 1.4 [{'connected_gene': 'LYSMD2', 'score': 19.04}, {'connected_gene': 'MAPK6', 'score': 12.65}, {'connected_gene': 'TMOD3', 'score': 11.39}, {'connected_gene': 'GNB5', 'score': 10.26}, {'connected_gene': 'ENSG00000259178', 'score': 6.82}, {'connected_gene': 'LEO1', 'score': 0.39}, {'connected_gene': 'GC15P052002', 'score': 0.34}]
chr15 GH15I051841 51841201 51848074 1.59 [{'connected_gene': 'LYSMD2', 'score': 38.07}, {'connected_gene': 'TMOD2', 'score': 16.82}, {'connected_gene': 'TMOD3', 'score': 12.98}, {'connected_gene': 'DMXL2', 'score': 9.96}, {'connected_gene': 'MAPK6', 'score': 9.27}, {'connected_gene': 'ENSG00000259178', 'score': 6.45}, {'connected_gene': 'MYO5C', 'score': 5.75}, {'connected_gene': 'ENSG00000277677', 'score': 0.39}, {'connected_gene': 'ENSG00000274954', 'score': 0.39}]
chr15 GH15I051750 51750186 51750562 0.61 [{'connected_gene': 'LYSMD2', 'score': 601.36}, {'connected_gene': 'TMOD2', 'score': 550.77}, {'connected_gene': 'TMOD3', 'score': 6.54}, {'connected_gene': 'ENSG00000259296', 'score': 0.28}]
chr15 GH15I051771 51771641 51774182 0.2 [{'connected_gene': 'LYSMD2', 'score': 48.21}, {'connected_gene': 'TMOD2', 'score': 19.31}, {'connected_gene': 'SCG3', 'score': 11.36}, {'connected_gene': 'TMOD3', 'score': 10.29}, {'connected_gene': 'DMXL2', 'score': 6.61}, {'connected_gene': 'ENSG00000259377', 'score': 0.34}, {'connected_gene': 'GC15P051815', 'score': 0.26}]
chr15 GH15I051646 51646824 51647713 1.37 [{'connected_gene': 'LYSMD2', 'score': 11.34}, {'connected_gene': 'TMOD2', 'score': 11.34}, {'connected_gene': 'SCG3', 'score': 10.91}, {'connected_gene': 'TMOD3', 'score': 5.89}, {'connected_gene': 'LOC105370816', 'score': 0.44}, {'connected_gene': 'DMXL2', 'score': 0.34}]
chr15 GH15I051725 51725783 51728473 1.1 [{'connected_gene': 'LYSMD2', 'score': 12.56}, {'connected_gene': 'TMOD2', 'score': 12.56}, {'connected_gene': 'SCG3', 'score': 11.44}, {'connected_gene': 'TMOD3', 'score': 8.15}, {'connected_gene': 'ENSG00000259296', 'score': 0.39}]
chr15 GH15I051756 51756001 51757000 0.66 [{'connected_gene': 'LYSMD2', 'score': 36.88}, {'connected_gene': 'TMOD3', 'score': 8.0}, {'connected_gene': 'ENSG00000259377', 'score': 0.77}, {'connected_gene': 'TMOD2', 'score': 0.77}, {'connected_gene': 'GC15P051815', 'score': 0.22}]
chr15 GH15I051769 51769560 51771107 0.31 [{'connected_gene': 'LYSMD2', 'score': 36.47}, {'connected_gene': 'TMOD3', 'score': 18.1}, {'connected_gene': 'SCG3', 'score': 11.26}, {'connected_gene': 'ENSG00000259377', 'score': 0.37}, {'connected_gene': 'TMOD2', 'score': 0.37}, {'connected_gene': 'GC15P051815', 'score': 0.26}]
chr15 GH15I051862 51862920 51865771 0.72 [{'connected_gene': 'LYSMD2', 'score': 27.86}, {'connected_gene': 'TMOD3', 'score': 21.79}, {'connected_gene': 'ENSG00000259935', 'score': 13.36}, {'connected_gene': 'ENSG00000260618', 'score': 13.19}, {'connected_gene': 'AP4E1', 'score': 11.33}, {'connected_gene': 'LOC100422556', 'score': 11.0}, {'connected_gene': 'FAM214A', 'score': 10.31}, {'connected_gene': 'ENSG00000259712', 'score': 9.93}, {'connected_gene': 'LOC100422490', 'score': 0.77}, {'connected_gene': 'GC15P051886', 'score': 0.34}]
chr15 GH15I051873 51873037 51877325 1.25 [{'connected_gene': 'LYSMD2', 'score': 27.97}, {'connected_gene': 'TMOD3', 'score': 23.81}, {'connected_gene': 'AP4E1', 'score': 10.1}, {'connected_gene': 'ENSG00000259178', 'score': 5.7}, {'connected_gene': 'GC15P051886', 'score': 0.44}, {'connected_gene': 'LOC100422490', 'score': 0.39}]
chr15 GH15I051877 51877510 51881242 1.25 [{'connected_gene': 'LYSMD2', 'score': 38.2}, {'connected_gene': 'TMOD3', 'score': 23.79}, {'connected_gene': 'GNB5', 'score': 9.78}, {'connected_gene': 'TMOD2', 'score': 9.74}, {'connected_gene': 'GC15P051886', 'score': 0.44}, {'connected_gene': 'LOC100422490', 'score': 0.37}, {'connected_gene': 'GC15M057424', 'score': 0.34}]
chr15 GH15I051866 51866735 51867270 0.46 [{'connected_gene': 'LYSMD2', 'score': 26.86}, {'connected_gene': 'TMOD3', 'score': 11.35}, {'connected_gene': 'LOC100422490', 'score': 0.44}, {'connected_gene': 'GC15P051886', 'score': 0.37}]
chr15 GH15I051834 51834801 51835600 0.49 [{'connected_gene': 'LYSMD2', 'score': 18.39}, {'connected_gene': 'ENSG00000274954', 'score': 0.77}, {'connected_gene': 'TMOD3', 'score': 0.44}, {'connected_gene': 'ENSG00000277677', 'score': 0.34}]
chr15 GH15I051837 51837401 51838600 1.07 [{'connected_gene': 'LYSMD2', 'score': 17.84}, {'connected_gene': 'ENSG00000274954', 'score': 0.77}, {'connected_gene': 'TMOD3', 'score': 0.44}, {'connected_gene': 'ENSG00000277677', 'score': 0.34}]
chr15 GH15I051718 51718034 51721528 0.89 [{'connected_gene': 'LYSMD2', 'score': 45.16}, {'connected_gene': 'SCG3', 'score': 12.11}, {'connected_gene': 'TMOD2', 'score': 11.79}, {'connected_gene': 'TMOD3', 'score': 7.33}, {'connected_gene': 'DMXL2', 'score': 5.38}, {'connected_gene': 'ENSG00000259296', 'score': 0.77}]
chr15 GH15I051764 51764100 51767422 0.31 [{'connected_gene': 'LYSMD2', 'score': 36.5}, {'connected_gene': 'SCG3', 'score': 11.0}, {'connected_gene': 'TMOD3', 'score': 8.02}, {'connected_gene': 'ENSG00000259377', 'score': 0.39}, {'connected_gene': 'TMOD2', 'score': 0.39}, {'connected_gene': 'GC15P051815', 'score': 0.25}]
chr15 GH15I051767 51767801 51768000 0.2 [{'connected_gene': 'LYSMD2', 'score': 24.74}, {'connected_gene': 'SCG3', 'score': 11.26}, {'connected_gene': 'TMOD3', 'score': 10.28}, {'connected_gene': 'ENSG00000259377', 'score': 0.37}, {'connected_gene': 'TMOD2', 'score': 0.37}, {'connected_gene': 'GC15P051815', 'score': 0.25}]
chr15 GH15I051728 51728916 51738836 2.72 [{'connected_gene': 'LYSMD2', 'score': 587.47}, {'connected_gene': 'DMXL2', 'score': 20.12}, {'connected_gene': 'SCG3', 'score': 11.21}, {'connected_gene': 'TMOD3', 'score': 8.19}, {'connected_gene': 'MAPK6', 'score': 7.03}, {'connected_gene': 'TMOD2', 'score': 6.45}, {'connected_gene': 'ENSG00000259296', 'score': 0.37}]
chr15 GH15I051935 51935592 51936428 0.88 [{'connected_gene': 'LYSMD2', 'score': 20.86}, {'connected_gene': 'LEO1', 'score': 12.26}, {'connected_gene': 'TMOD3', 'score': 10.39}, {'connected_gene': 'GNB5', 'score': 9.65}, {'connected_gene': 'DMXL2', 'score': 4.31}, {'connected_gene': 'GC15P051928', 'score': 0.44}, {'connected_gene': 'LOC100422556', 'score': 0.44}, {'connected_gene': 'MAPK6', 'score': 0.37}]
chr15 GH15I051580 51580550 51580730 0.82 [{'connected_gene': 'DMXL2', 'score': 14.4}, {'connected_gene': 'MAPK6', 'score': 11.33}, {'connected_gene': 'TMOD3', 'score': 4.99}, {'connected_gene': 'LYSMD2', 'score': 1.31}, {'connected_gene': 'GC15M057426', 'score': 0.37}]
chr15 GH15I051558 51558364 51558727 0.59 [{'connected_gene': 'DMXL2', 'score': 20.35}, {'connected_gene': 'MAPK6', 'score': 12.49}, {'connected_gene': 'SCG3', 'score': 5.71}, {'connected_gene': 'TMOD3', 'score': 1.54}, {'connected_gene': 'GC15M057426', 'score': 0.77}, {'connected_gene': 'ENSG00000259668', 'score': 0.15}]
chr15 GH15I051619 51619158 51620078 1.13 [{'connected_gene': 'DMXL2', 'score': 36.78}, {'connected_gene': 'MAPK6', 'score': 12.59}, {'connected_gene': 'LYSMD2', 'score': 1.71}, {'connected_gene': 'TMOD3', 'score': 1.36}, {'connected_gene': 'GC15M057426', 'score': 0.22}]
chr15 GH15I051585 51585601 51586800 1.07 [{'connected_gene': 'DMXL2', 'score': 29.86}, {'connected_gene': 'MAPK6', 'score': 11.24}, {'connected_gene': 'LYSMD2', 'score': 2.06}, {'connected_gene': 'TMOD3', 'score': 1.31}, {'connected_gene': 'GC15M057426', 'score': 0.34}]
chr15 GH15I051620 51620238 51624665 2.57 [{'connected_gene': 'DMXL2', 'score': 601.11}, {'connected_gene': 'SCG3', 'score': 22.54}, {'connected_gene': 'LYSMD2', 'score': 12.4}, {'connected_gene': 'TRPM7', 'score': 10.88}, {'connected_gene': 'ENSG00000260618', 'score': 10.87}, {'connected_gene': 'MAPK6', 'score': 10.19}, {'connected_gene': 'AP4E1', 'score': 10.15}, {'connected_gene': 'TMOD2', 'score': 10.09}, {'connected_gene': 'TMOD3', 'score': 4.85}, {'connected_gene': 'ENSG00000259678', 'score': 4.58}, {'connected_gene': 'LOC105370816', 'score': 0.29}, {'connected_gene': 'GC15M057426', 'score': 0.22}]
chr15 GH15I051707 51707024 51709381 0.94 [{'connected_gene': 'DMXL2', 'score': 20.3}, {'connected_gene': 'SCG3', 'score': 18.94}, {'connected_gene': 'LYSMD2', 'score': 10.65}, {'connected_gene': 'TMOD2', 'score': 10.65}, {'connected_gene': 'MAPK6', 'score': 6.55}, {'connected_gene': 'TMOD3', 'score': 4.89}, {'connected_gene': 'ENSG00000259296', 'score': 0.44}, {'connected_gene': 'ENSG00000259241', 'score': 0.39}]
chr15 GH15I051943 51943773 51943809 0.39 [{'connected_gene': 'LEO1', 'score': 11.52}, {'connected_gene': 'GNB5', 'score': 10.5}, {'connected_gene': 'MAPK6', 'score': 1.51}, {'connected_gene': 'DMXL2', 'score': 1.37}, {'connected_gene': 'LOC100422556', 'score': 0.39}, {'connected_gene': 'TMOD3', 'score': 0.14}]
chr15 GH15I052260 52260945 52263975 1.02 [{'connected_gene': 'GNB5', 'score': 10.71}, {'connected_gene': 'TMOD3', 'score': 6.04}, {'connected_gene': 'GC15M057316', 'score': 0.39}, {'connected_gene': 'GC15M056837', 'score': 0.39}, {'connected_gene': 'MYO5C', 'score': 0.29}, {'connected_gene': 'LOC105370820', 'score': 0.28}]
chr15 GH15I052227 52227352 52227833 1.14 [{'connected_gene': 'GNB5', 'score': 11.64}, {'connected_gene': 'TMOD3', 'score': 6.36}, {'connected_gene': 'LOC105370820', 'score': 0.77}, {'connected_gene': 'GC15M057316', 'score': 0.25}, {'connected_gene': 'GC15M056837', 'score': 0.25}, {'connected_gene': 'MYO5C', 'score': 0.2}]
chr15 GH15I051861 51861220 51862733 0.8 [{'connected_gene': 'LOC100422490', 'score': 550.77}, {'connected_gene': 'TMOD3', 'score': 23.59}, {'connected_gene': 'LYSMD2', 'score': 20.0}, {'connected_gene': 'GC15P051886', 'score': 0.34}]
chr15 GH15I052254 52254362 52255609 0.76 [{'connected_gene': 'MIR1266', 'score': 10.83}, {'connected_gene': 'TMOD3', 'score': 6.66}, {'connected_gene': 'GC15M057316', 'score': 0.34}, {'connected_gene': 'GC15M056837', 'score': 0.34}, {'connected_gene': 'LOC105370820', 'score': 0.31}, {'connected_gene': 'MYO5C', 'score': 0.26}]
chr15 GH15I052178 52178438 52181227 1.93 [{'connected_gene': 'CERNA1', 'score': 569.22}, {'connected_gene': 'GNB5', 'score': 560.06}, {'connected_gene': 'LEO1', 'score': 10.38}, {'connected_gene': 'ENSG00000259709', 'score': 5.55}, {'connected_gene': 'TMOD3', 'score': 4.3}, {'connected_gene': 'ENSG00000206995', 'score': 0.37}]
chr15 GH15I052099 52099349 52104870 1.67 [{'connected_gene': 'ENSG00000259712', 'score': 550.77}, {'connected_gene': 'MAPK6', 'score': 26.31}, {'connected_gene': 'GNB5', 'score': 17.48}, {'connected_gene': 'DMXL2', 'score': 15.67}, {'connected_gene': 'TMOD3', 'score': 1.17}, {'connected_gene': 'BCL2L10', 'score': 0.39}, {'connected_gene': 'GC15P052002', 'score': 0.15}]
chr15 GH15I051833 51833144 51834168 0.38 [{'connected_gene': 'ENSG00000274954', 'score': 550.77}, {'connected_gene': 'TMOD3', 'score': 8.58}, {'connected_gene': 'DMXL2', 'score': 4.0}, {'connected_gene': 'ENSG00000277677', 'score': 0.34}]
chr15 GH15I051883 51883544 51883693 0.2 [{'connected_gene': 'GC15P051886', 'score': 550.77}, {'connected_gene': 'ENSG00000207484', 'score': 550.77}, {'connected_gene': 'TMOD3', 'score': 11.58}, {'connected_gene': 'GC15M057424', 'score': 0.37}, {'connected_gene': 'LOC100422490', 'score': 0.34}]
chr15 GH15I051917 51917604 51917753 0.52 [{'connected_gene': 'ENSG00000259185', 'score': 0.44}, {'connected_gene': 'GC15P051928', 'score': 0.39}, {'connected_gene': 'TMOD3', 'score': 0.17}]
chr15 GH15I051885 51884600 51885001 0.2 [{'connected_gene': 'GC15P051886', 'score': 550.77}, {'connected_gene': 'ENSG00000207484', 'score': 550.77}, {'connected_gene': 'LYSMD2', 'score': 27.52}, {'connected_gene': 'ENSG00000259201', 'score': 0.37}, {'connected_gene': 'GC15M057424', 'score': 0.37}, {'connected_gene': 'TMOD3', 'score': 0.22}]
chr15 GH15I051907 51907433 51907934 0.92 [{'connected_gene': 'GC15P051909', 'score': 550.77}, {'connected_gene': 'ENSG00000259185', 'score': 550.77}, {'connected_gene': 'RNU6-90P', 'score': 550.77}, {'connected_gene': 'LYSMD2', 'score': 17.96}, {'connected_gene': 'TMOD3', 'score': 11.45}]
chr15 GH15I051884 51884204 51884353 0.46 [{'connected_gene': 'GC15P051886', 'score': 550.77}, {'connected_gene': 'ENSG00000207484', 'score': 550.77}, {'connected_gene': 'GC15M057424', 'score': 0.37}, {'connected_gene': 'LOC100422490', 'score': 0.34}, {'connected_gene': 'TMOD3', 'score': 0.23}]

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