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
ENST00000507166 [[54244005, 54244090], [54245239, 54245284], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256795], [54257175, 54257306], [54257596, 54257665], [54265896, 54266006], [54280781, 54280889], [54292038, 54292132], [55141091, 55141140], [55143554, 55143659], [55144062, 55144173], [55144528, 55144682], [55146482, 55146649], [55151537, 55151653], [55152007, 55152130], [55153596, 55153708], [55154965, 55155065], [55155175, 55155281], [55156479, 55156721], [55161291, 55161439]] [[54244005, 54244090], [54245239, 54245284], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256795], [54257175, 54257306], [54257596, 54257665], [54265896, 54266006], [54280781, 54280889], [54292038, 54292132], [55141091, 55141140], [55143554, 55143659], [55144062, 55144173], [55144528, 55144682], [55146482, 55146649], [55151537, 55151653], [55152007, 55152130], [55153596, 55153708], [55154965, 55155065], [55155175, 55155281], [55156479, 55156721], [55161291, 55161439]]
ENST00000358575 [[54243811, 54244090], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256795], [54257175, 54257306], [54257596, 54257665], [54265896, 54266006], [54280781, 54280889], [54292038, 54292132], [54294193, 54294350], [54306748, 54306775], [54308819, 54308874], [54310214, 54310270], [54319086, 54319300], [54324819, 54324957], [54325468, 54325835]] [[54244005, 54244090], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256795], [54257175, 54257306], [54257596, 54257665], [54265896, 54266006], [54280781, 54280889], [54292038, 54292132], [54294193, 54294350], [54306748, 54306775], [54308819, 54308874], [54310214, 54310270], [54319086, 54319300], [54324819, 54324957], [54325468, 54325616]]
ENST00000337488 [[54243811, 54244090], [54245239, 54245284], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256795], [54257175, 54257306], [54257596, 54257665], [54265896, 54266006], [54280781, 54280889], [54292038, 54292132], [54294193, 54294350], [54308819, 54308874], [54310214, 54310270], [54319086, 54319300], [54324819, 54324957], [54325468, 54325835]] [[54244005, 54244090], [54245239, 54245284], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256795], [54257175, 54257306], [54257596, 54257665], [54265896, 54266006], [54280781, 54280889], [54292038, 54292132], [54294193, 54294350], [54308819, 54308874], [54310214, 54310270], [54319086, 54319300], [54324819, 54324957], [54325468, 54325616]]
ENST00000507922 [[54243837, 54244090], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256795], [54257175, 54257306], [54257596, 54257665], [54265896, 54266006], [54280781, 54280889], [54292038, 54292132], [54294193, 54294388]] [[54244005, 54244090], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256795], [54257175, 54257306], [54257596, 54257665], [54265896, 54266006], [54280781, 54280889], [54292038, 54292132], [54294193, 54294358]]
ENST00000306932 [[54243862, 54244090], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256795], [54257175, 54257306], [54265896, 54266006], [54292038, 54292132], [54294193, 54294350], [54308819, 54308874], [54310214, 54310270], [54319086, 54319300], [54324819, 54324957], [54325468, 54325788]] [[54244005, 54244090], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256795], [54257175, 54257306], [54265896, 54266006], [54292038, 54292132], [54294193, 54294350], [54308819, 54308874], [54310214, 54310270], [54319086, 54319300], [54324819, 54324957], [54325468, 54325616]]
ENST00000505125 [[54243969, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256795], [54257175, 54257306], [54265896, 54266006], [54280781, 54280889], [54292038, 54292132], [54294193, 54294350], [54308819, 54308874], [54310214, 54310270], [54319086, 54319300], [54324819, 54324957], [54325468, 54325788]] None
ENST00000513975 [[54244009, 54244090], [54245239, 54245284], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256795], [54257175, 54257306], [54257596, 54257665], [54265896, 54266006], [54292038, 54292132], [54294193, 54294350], [54306748, 54307150]] None
ENST00000514543 [[54248444, 54248502], [54256687, 54256795], [54257175, 54257306], [54265896, 54266006], [54292038, 54292132], [54294193, 54294350], [54306748, 54306775], [54308819, 54308874], [54310214, 54310270], [54319086, 54319300], [54324819, 54324957], [54325468, 54325785]] [[54248444, 54248502], [54256687, 54256708]]
ENST00000511376 [[54243809, 54244002], [54245239, 54245284], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256764]] None
ENST00000510668 [[54244384, 54244695], [54245239, 54245284], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256016]] None
ENST00000513008 [[54292002, 54292132], [54294193, 54294350], [54308819, 54308874], [54310214, 54310270], [54319086, 54319300], [54324819, 54324957], [54325468, 54325788]] None
ENST00000504094 [[54294232, 54294350], [54306748, 54306775], [54308819, 54308874], [54310214, 54310270], [54319086, 54319309], [54324819, 54324957], [54325468, 54327028]] [[54294232, 54294350], [54306748, 54306775], [54308819, 54308874], [54310214, 54310270], [54319086, 54319309], [54324819, 54324957], [54325468, 54325616]]
ENST00000511055 [[54308419, 54308874], [54310214, 54310270], [54319086, 54319298]] None
ENST00000507206 [[54324717, 54324957], [54325468, 54325569]] None
NM_001134938 [[54243819, 54244090], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256795], [54257175, 54257306], [54265896, 54266006], [54292038, 54292132], [54294193, 54294350], [54308819, 54308874], [54310214, 54310270], [54319086, 54319300], [54324819, 54324957], [54325468, 54326103]] [[54244005, 54244090], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256795], [54257175, 54257306], [54265896, 54266006], [54292038, 54292132], [54294193, 54294350], [54308819, 54308874], [54310214, 54310270], [54319086, 54319300], [54324819, 54324957], [54325468, 54325616]]
NM_001134937 [[54243819, 54244090], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256795], [54257175, 54257306], [54257596, 54257665], [54265896, 54266006], [54280781, 54280889], [54292038, 54292132], [54294193, 54294350], [54306748, 54306775], [54308819, 54308874], [54310214, 54310270], [54319086, 54319300], [54324819, 54324957], [54325468, 54326103]] [[54244005, 54244090], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256795], [54257175, 54257306], [54257596, 54257665], [54265896, 54266006], [54280781, 54280889], [54292038, 54292132], [54294193, 54294350], [54306748, 54306775], [54308819, 54308874], [54310214, 54310270], [54319086, 54319300], [54324819, 54324957], [54325468, 54325616]]
NM_030917 [[54243819, 54244090], [54245239, 54245284], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256795], [54257175, 54257306], [54257596, 54257665], [54265896, 54266006], [54280781, 54280889], [54292038, 54292132], [54294193, 54294350], [54308819, 54308874], [54310214, 54310270], [54319086, 54319300], [54324819, 54324957], [54325468, 54326103]] [[54244005, 54244090], [54245239, 54245284], [54245391, 54245431], [54248444, 54248502], [54249939, 54250043], [54255975, 54256040], [54256687, 54256795], [54257175, 54257306], [54257596, 54257665], [54265896, 54266006], [54280781, 54280889], [54292038, 54292132], [54294193, 54294350], [54308819, 54308874], [54310214, 54310270], [54319086, 54319300], [54324819, 54324957], [54325468, 54325616]]
Promoter
Chrom Start End Description
chr4 54243775 54243786 CAGE_peak_4_at_FIP1L1_5end
chr4 54243798 54243854 CAGE_peak_1_at_FIP1L1_5end,CAGE_peak_1_at_PDGFRA_5end
chr4 54243862 54243874 CAGE_peak_2_at_FIP1L1_5end
chr4 54243917 54243924 CAGE_peak_9_at_FIP1L1_5end
chr4 54292037 54292060 CAGE_peak_3_at_FIP1L1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I053589 53589268 53594116 1.87 [{'connected_gene': 'LNX1', 'score': 560.66}, {'connected_gene': 'LNX1-AS2', 'score': 550.77}, {'connected_gene': 'LOC100506444', 'score': 10.72}, {'connected_gene': 'FIP1L1', 'score': 10.5}, {'connected_gene': 'GC04P053572', 'score': 0.37}, {'connected_gene': 'LOC101928879', 'score': 0.37}, {'connected_gene': 'ENSG00000282278', 'score': 0.08}]
chr4 GH04I053346 53346989 53348060 0.2 [{'connected_gene': 'FIP1L1', 'score': 10.17}, {'connected_gene': 'SCFD2', 'score': 0.37}, {'connected_gene': 'GC04M053266', 'score': 0.18}, {'connected_gene': 'RNU6-310P', 'score': 0.18}]
chr4 GH04I053376 53376889 53379201 1.98 [{'connected_gene': 'FIP1L1', 'score': 562.08}, {'connected_gene': 'ENSG00000282278', 'score': 550.77}, {'connected_gene': 'LOC105377654', 'score': 550.77}, {'connected_gene': 'ENSG00000272650', 'score': 11.73}, {'connected_gene': 'CHIC2', 'score': 11.26}, {'connected_gene': 'SCFD2', 'score': 5.87}, {'connected_gene': 'GC04M053405', 'score': 0.29}]
chr4 GH04I052995 52995175 52998757 1 [{'connected_gene': 'USP46', 'score': 9.92}, {'connected_gene': 'USP46-AS1', 'score': 9.92}, {'connected_gene': 'LNX1', 'score': 9.63}, {'connected_gene': 'LOC100506444', 'score': 9.63}, {'connected_gene': 'FIP1L1', 'score': 4.28}, {'connected_gene': 'LOC101928658', 'score': 0.2}, {'connected_gene': 'PIR32665', 'score': 0.17}, {'connected_gene': 'SCFD2', 'score': 0.05}]
chr4 GH04I053363 53363800 53366975 2.03 [{'connected_gene': 'SCFD2', 'score': 556.77}, {'connected_gene': 'ENSG00000272650', 'score': 11.73}, {'connected_gene': 'FIP1L1', 'score': 11.7}, {'connected_gene': 'CHIC2', 'score': 11.25}, {'connected_gene': 'GC04M053266', 'score': 0.15}, {'connected_gene': 'RNU6-310P', 'score': 0.15}]
chr4 GH04I053475 53475458 53478298 0.83 [{'connected_gene': 'SCFD2', 'score': 5.13}, {'connected_gene': 'FIP1L1', 'score': 5.05}, {'connected_gene': 'LNX1-AS1', 'score': 0.37}, {'connected_gene': 'GC04M053405', 'score': 0.2}, {'connected_gene': 'ENSG00000282278', 'score': 0.15}, {'connected_gene': 'LNX1', 'score': 0.07}]
chr4 GH04I053195 53195307 53199113 1.34 [{'connected_gene': 'SCFD2', 'score': 10.9}, {'connected_gene': 'FIP1L1', 'score': 10.38}, {'connected_gene': 'GC04P053179', 'score': 0.37}, {'connected_gene': 'PIR49160', 'score': 0.22}]
chr4 GH04I053444 53444841 53445761 0.2 [{'connected_gene': 'SCFD2', 'score': 4.9}, {'connected_gene': 'GC04M053405', 'score': 0.29}, {'connected_gene': 'LNX1-AS1', 'score': 0.23}, {'connected_gene': 'ENSG00000282278', 'score': 0.2}, {'connected_gene': 'FIP1L1', 'score': 0.2}]
chr4 GH04I053496 53496465 53498203 0.86 [{'connected_gene': 'LNX1-AS1', 'score': 550.77}, {'connected_gene': 'FIP1L1', 'score': 5.96}, {'connected_gene': 'LNX1-AS2', 'score': 5.61}, {'connected_gene': 'PIR61049', 'score': 0.21}, {'connected_gene': 'ENSG00000282278', 'score': 0.13}, {'connected_gene': 'LNX1', 'score': 0.08}]
chr4 GH04I053478 53478417 53480481 0.86 [{'connected_gene': 'LOC100506444', 'score': 10.2}, {'connected_gene': 'LNX1', 'score': 10.18}, {'connected_gene': 'FIP1L1', 'score': 5.11}, {'connected_gene': 'SCFD2', 'score': 4.42}, {'connected_gene': 'LNX1-AS1', 'score': 0.37}, {'connected_gene': 'GC04M053405', 'score': 0.2}, {'connected_gene': 'ENSG00000282278', 'score': 0.15}]
chr4 GH04I052721 52721601 52723394 1.11 [{'connected_gene': 'ENSG00000248375', 'score': 550.77}, {'connected_gene': 'FIP1L1', 'score': 24.48}, {'connected_gene': 'ERVMER34-1', 'score': 10.92}, {'connected_gene': 'ENSG00000212490', 'score': 10.92}, {'connected_gene': 'USP46', 'score': 10.24}, {'connected_gene': 'RASL11B', 'score': 10.11}, {'connected_gene': 'GC04P052749', 'score': 0.31}]

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