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
ENST00000556592 [[20724716, 20724844], [20725876, 20725934], [20726343, 20726358], [20729771, 20729892], [20755346, 20755899]] None
ENST00000554992 [[20728742, 20729137], [20729547, 20729773]] None
ENST00000258821 [[20754386, 20757905], [20760141, 20760286], [20763470, 20763685], [20763866, 20764013], [20764548, 20764605], [20766955, 20767047], [20767456, 20767607], [20768765, 20768977], [20769991, 20770124], [20774045, 20774153]] [[20757785, 20757905], [20760141, 20760286], [20763470, 20763685], [20763866, 20764013], [20764548, 20764605], [20766955, 20767047], [20767456, 20767607], [20768765, 20768977], [20769991, 20770124], [20774045, 20774096]]
ENST00000383029 [[20757289, 20757905], [20760141, 20760286], [20763470, 20763685], [20763866, 20764013], [20764548, 20764605], [20766955, 20767047], [20767456, 20767607], [20768833, 20768977], [20769991, 20770124], [20774045, 20774100]] [[20767548, 20767607], [20768833, 20768977], [20769991, 20770124], [20774045, 20774096]]
ENST00000554157 [[20757289, 20757905], [20760141, 20763685], [20763866, 20764013], [20764548, 20764605], [20766955, 20767047], [20767456, 20767607], [20768765, 20768977], [20769991, 20770124], [20774045, 20774107]] None
ENST00000423949 [[20757687, 20757905], [20760141, 20760286], [20763470, 20763685], [20763866, 20764013], [20764548, 20764605], [20766955, 20767047], [20767456, 20767563], [20768886, 20768977], [20769991, 20770124], [20774045, 20774094]] [[20757785, 20757905], [20760141, 20760286], [20763470, 20763685], [20763866, 20764013], [20764548, 20764605], [20766955, 20767047], [20767456, 20767563], [20768886, 20768977], [20769991, 20770124], [20774045, 20774094]]
ENST00000557379 [[20768495, 20768977], [20769991, 20770124], [20774045, 20774112]] None
ENST00000553828 [[20768967, 20768977], [20769991, 20770124], [20773514, 20774119]] [[20768967, 20768977], [20769991, 20770028]]
NM_138376 [[20757289, 20757905], [20760141, 20760286], [20763470, 20763685], [20763866, 20764013], [20764548, 20764605], [20766955, 20767047], [20767456, 20767607], [20768765, 20768977], [20769991, 20770124], [20774045, 20774153]] [[20757785, 20757905], [20760141, 20760286], [20763470, 20763685], [20763866, 20764013], [20764548, 20764605], [20766955, 20767047], [20767456, 20767607], [20768765, 20768977], [20769991, 20770124], [20774045, 20774096]]
Promoter
Chrom Start End Description
chr14 20774092 20774127 CAGE_peak_1_at_TTC5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I020305 20305000 20306571 2.03 [{'connected_gene': 'TTC5', 'score': 561.92}, {'connected_gene': 'ENSG00000258459', 'score': 550.77}, {'connected_gene': 'ENSG00000258768', 'score': 17.65}, {'connected_gene': 'METTL17', 'score': 14.69}, {'connected_gene': 'ENSG00000258515', 'score': 12.08}, {'connected_gene': 'OSGEP', 'score': 12.05}]
chr14 GH14I020301 20301676 20302652 0.69 [{'connected_gene': 'TTC5', 'score': 10.19}, {'connected_gene': 'ENSG00000259001', 'score': 6.72}, {'connected_gene': 'ENSG00000258459', 'score': 0.77}, {'connected_gene': 'ENSG00000258768', 'score': 0.28}]
chr14 GH14I020295 20295262 20295391 0.76 [{'connected_gene': 'TTC5', 'score': 0.39}, {'connected_gene': 'ENSG00000258459', 'score': 0.39}, {'connected_gene': 'ENSG00000258768', 'score': 0.29}]
chr14 GH14I020988 20988524 20991038 2.02 [{'connected_gene': 'METTL17', 'score': 565.14}, {'connected_gene': 'SUPT16H', 'score': 17.13}, {'connected_gene': 'METTL3', 'score': 14.31}, {'connected_gene': 'TTC5', 'score': 11.48}, {'connected_gene': 'SLC39A2', 'score': 10.72}, {'connected_gene': 'LOC101929718', 'score': 0.44}]
chr14 GH14I020679 20679641 20689424 2.67 [{'connected_gene': 'RNASE4', 'score': 570.03}, {'connected_gene': 'ANG', 'score': 556.76}, {'connected_gene': 'TRP-TGG3-2', 'score': 550.77}, {'connected_gene': 'TRY-GTA5-5', 'score': 550.77}, {'connected_gene': 'PIR55020', 'score': 550.77}, {'connected_gene': 'ENSG00000259171', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 44.55}, {'connected_gene': 'ENSG00000258515', 'score': 38.75}, {'connected_gene': 'SUPT16H', 'score': 36.21}, {'connected_gene': 'CHD8', 'score': 32.71}, {'connected_gene': 'PARP2', 'score': 31.86}, {'connected_gene': 'TTC5', 'score': 21.96}, {'connected_gene': 'PIP4P1', 'score': 20.78}, {'connected_gene': 'ENSG00000258768', 'score': 18.52}, {'connected_gene': 'OSGEP', 'score': 16.13}, {'connected_gene': 'PNP', 'score': 15.64}, {'connected_gene': 'LINC00641', 'score': 15.57}, {'connected_gene': 'METTL17', 'score': 15.06}, {'connected_gene': 'TEP1', 'score': 14.24}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'ENSG00000259001', 'score': 5.03}, {'connected_gene': 'ZNF219', 'score': 3.58}, {'connected_gene': 'NDRG2', 'score': 1.44}, {'connected_gene': 'ARHGEF40', 'score': 1.39}, {'connected_gene': 'GC14P020760', 'score': 0.77}, {'connected_gene': 'TRT-TGT5-1', 'score': 0.77}, {'connected_gene': 'PIR37991', 'score': 0.77}]
chr14 GH14I020453 20453599 20457486 2.12 [{'connected_gene': 'OSGEP', 'score': 609.68}, {'connected_gene': 'APEX1', 'score': 598.25}, {'connected_gene': 'SUPT16H', 'score': 100.91}, {'connected_gene': 'METTL17', 'score': 100.48}, {'connected_gene': 'ENSG00000258515', 'score': 70.52}, {'connected_gene': 'TEP1', 'score': 42.76}, {'connected_gene': 'TTC5', 'score': 20.43}, {'connected_gene': 'PIP4P1', 'score': 19.81}, {'connected_gene': 'ZNF219', 'score': 18.84}, {'connected_gene': 'PNP', 'score': 14.42}, {'connected_gene': 'ENSG00000258768', 'score': 9.8}, {'connected_gene': 'CCNB1IP1', 'score': 9.76}]
chr14 GH14I020468 20468756 20474701 2.28 [{'connected_gene': 'PNP', 'score': 45.79}, {'connected_gene': 'SUPT16H', 'score': 45.06}, {'connected_gene': 'METTL17', 'score': 37.14}, {'connected_gene': 'TEP1', 'score': 33.04}, {'connected_gene': 'CHD8', 'score': 27.79}, {'connected_gene': 'APEX1', 'score': 18.05}, {'connected_gene': 'HNRNPC', 'score': 15.38}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'TTC5', 'score': 12.61}, {'connected_gene': 'RNASE10', 'score': 11.26}, {'connected_gene': 'RNA5SP382', 'score': 10.95}, {'connected_gene': 'CCNB1IP1', 'score': 10.48}, {'connected_gene': 'SNORD126', 'score': 10.47}, {'connected_gene': 'GC14P020476', 'score': 0.77}, {'connected_gene': 'GC14P020477', 'score': 0.77}]
chr14 GH14I020609 20608942 20610757 1.57 [{'connected_gene': 'RNASE11', 'score': 550.77}, {'connected_gene': 'ENSG00000259060', 'score': 550.77}, {'connected_gene': 'TRL-AAG2-3', 'score': 550.77}, {'connected_gene': 'TRP-AGG2-5', 'score': 550.77}, {'connected_gene': 'PARP2', 'score': 31.87}, {'connected_gene': 'SUPT16H', 'score': 31.81}, {'connected_gene': 'METTL3', 'score': 26.36}, {'connected_gene': 'TTC5', 'score': 21.97}, {'connected_gene': 'ENSG00000258515', 'score': 21.74}, {'connected_gene': 'CHD8', 'score': 20.56}, {'connected_gene': 'PIP4P1', 'score': 19.86}, {'connected_gene': 'ENSG00000258768', 'score': 18.52}, {'connected_gene': 'LINC00641', 'score': 15.57}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'OSGEP', 'score': 12.55}, {'connected_gene': 'METTL17', 'score': 11.27}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'CCNB1IP1', 'score': 10.83}]
chr14 GH14I020662 20662801 20664600 1.25 [{'connected_gene': 'TRY-GTA5-4', 'score': 550.77}, {'connected_gene': 'PARP2', 'score': 41.16}, {'connected_gene': 'ENSG00000258515', 'score': 30.49}, {'connected_gene': 'SUPT16H', 'score': 27.05}, {'connected_gene': 'TTC5', 'score': 21.96}, {'connected_gene': 'PIP4P1', 'score': 19.83}, {'connected_gene': 'ENSG00000258768', 'score': 18.52}, {'connected_gene': 'METTL3', 'score': 14.14}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'OSGEP', 'score': 12.52}, {'connected_gene': 'CHD8', 'score': 12.3}, {'connected_gene': 'OR6S1', 'score': 12.09}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'RNASE4', 'score': 6.58}, {'connected_gene': 'GC14M020668', 'score': 0.77}]
chr14 GH14I020657 20657201 20658253 1.2 [{'connected_gene': 'TRY-GTA4-1', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 77.67}, {'connected_gene': 'SUPT16H', 'score': 63.34}, {'connected_gene': 'METTL17', 'score': 47.65}, {'connected_gene': 'ENSG00000258515', 'score': 44.33}, {'connected_gene': 'PARP2', 'score': 35.88}, {'connected_gene': 'TTC5', 'score': 33.01}, {'connected_gene': 'CHD8', 'score': 29.8}, {'connected_gene': 'RAB2B', 'score': 28.62}, {'connected_gene': 'ENSG00000258768', 'score': 28.21}, {'connected_gene': 'OSGEP', 'score': 22.97}, {'connected_gene': 'TEP1', 'score': 22.29}, {'connected_gene': 'PIP4P1', 'score': 19.79}, {'connected_gene': 'LINC00641', 'score': 15.57}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'ANG', 'score': 11.61}, {'connected_gene': 'CCNB1IP1', 'score': 10.82}, {'connected_gene': 'SNORA79B', 'score': 10.05}, {'connected_gene': 'APEX1', 'score': 9.77}, {'connected_gene': 'TRY-GTA7-1', 'score': 0.77}]
chr14 GH14I020612 20612050 20615363 1.3 [{'connected_gene': 'TRP-AGG2-6', 'score': 550.77}, {'connected_gene': 'TRT-TGT3-1', 'score': 550.77}, {'connected_gene': 'GC14M020645', 'score': 550.77}, {'connected_gene': 'ENSG00000258515', 'score': 41.93}, {'connected_gene': 'METTL3', 'score': 38.68}, {'connected_gene': 'SUPT16H', 'score': 31.99}, {'connected_gene': 'PARP2', 'score': 31.87}, {'connected_gene': 'ENSG00000258768', 'score': 27.76}, {'connected_gene': 'CHD8', 'score': 25.02}, {'connected_gene': 'OSGEP', 'score': 24.4}, {'connected_gene': 'TTC5', 'score': 21.97}, {'connected_gene': 'PIP4P1', 'score': 19.86}, {'connected_gene': 'METTL17', 'score': 16.21}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'APEX1', 'score': 9.73}]
chr14 GH14I020665 20665542 20665691 0.8 [{'connected_gene': 'ENSG00000258768', 'score': 12.95}, {'connected_gene': 'RAB2B', 'score': 12.54}, {'connected_gene': 'ENSG00000258515', 'score': 12.05}, {'connected_gene': 'OSGEP', 'score': 12.02}, {'connected_gene': 'TTC5', 'score': 11.2}, {'connected_gene': 'SUPT16H', 'score': 10.72}, {'connected_gene': 'TRY-GTA5-4', 'score': 0.77}, {'connected_gene': 'GC14M020668', 'score': 0.77}]
chr14 GH14I020262 20262266 20263511 0.83 [{'connected_gene': 'ENSG00000258768', 'score': 550.77}, {'connected_gene': 'ENSG00000258515', 'score': 15.15}, {'connected_gene': 'METTL17', 'score': 11.99}, {'connected_gene': 'OR11H4', 'score': 0.34}, {'connected_gene': 'TTC5', 'score': 0.26}]
chr14 GH14I020493 20493557 20496183 0.93 [{'connected_gene': 'ENSG00000258515', 'score': 24.04}, {'connected_gene': 'OSGEP', 'score': 17.62}, {'connected_gene': 'CHD8', 'score': 13.59}, {'connected_gene': 'TTC5', 'score': 13.17}, {'connected_gene': 'SUPT16H', 'score': 10.56}, {'connected_gene': 'RNA5SP382', 'score': 10.45}, {'connected_gene': 'TEP1', 'score': 10.44}, {'connected_gene': 'RNASE10', 'score': 0.39}, {'connected_gene': 'ENSG00000258908', 'score': 0.37}]
chr14 GH14I020827 20827612 20828438 0.67 [{'connected_gene': 'ENSG00000258515', 'score': 33.37}, {'connected_gene': 'SUPT16H', 'score': 29.6}, {'connected_gene': 'METTL3', 'score': 27.62}, {'connected_gene': 'METTL17', 'score': 21.06}, {'connected_gene': 'RAB2B', 'score': 20.62}, {'connected_gene': 'ENSG00000258768', 'score': 12.93}, {'connected_gene': 'RNASE1', 'score': 12.01}, {'connected_gene': 'OSGEP', 'score': 11.99}, {'connected_gene': 'TTC5', 'score': 11.17}, {'connected_gene': 'EDDM3A', 'score': 10.98}, {'connected_gene': 'EDDM3B', 'score': 10.87}, {'connected_gene': 'ENSG00000178107', 'score': 10.35}, {'connected_gene': 'GC14P020814', 'score': 0.39}, {'connected_gene': 'ENSG00000259130', 'score': 0.25}]
chr14 GH14I020622 20622801 20626696 1.24 [{'connected_gene': 'GC14P020627', 'score': 550.77}, {'connected_gene': 'TRL-TAG2-1', 'score': 550.77}, {'connected_gene': 'PIR59363', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 88.47}, {'connected_gene': 'SUPT16H', 'score': 70.11}, {'connected_gene': 'METTL17', 'score': 61.1}, {'connected_gene': 'ENSG00000258515', 'score': 58.38}, {'connected_gene': 'CHD8', 'score': 55.58}, {'connected_gene': 'PARP2', 'score': 44.51}, {'connected_gene': 'TEP1', 'score': 44.16}, {'connected_gene': 'ENSG00000258768', 'score': 30.24}, {'connected_gene': 'OSGEP', 'score': 24.71}, {'connected_gene': 'APEX1', 'score': 21.77}, {'connected_gene': 'PIP4P1', 'score': 19.85}, {'connected_gene': 'TOX4', 'score': 13.64}, {'connected_gene': 'SALL2', 'score': 12.58}, {'connected_gene': 'ANG', 'score': 12.21}, {'connected_gene': 'TTC5', 'score': 11.2}, {'connected_gene': 'HNRNPC', 'score': 10.97}, {'connected_gene': 'SNORA79B', 'score': 10.05}, {'connected_gene': 'RPS26P9', 'score': 0.44}]

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