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
ENST00000272793 [[170683967, 170684562], [170728745, 170728885], [170732300, 170732459], [170734003, 170734147], [170735034, 170735084], [170747674, 170747741], [170751690, 170751821], [170753016, 170753245], [170761623, 170761803], [170762540, 170762674], [170770569, 170770656], [170780438, 170780504], [170780593, 170780683], [170782128, 170782257], [170783201, 170783254], [170783347, 170783481], [170783829, 170783917], [170785238, 170785378], [170789421, 170789518], [170799002, 170799144], [170802797, 170802902], [170804051, 170804225], [170806114, 170806575], [170814947, 170815036], [170843154, 170843304], [170850832, 170850966], [170857813, 170857924], [170863499, 170863700], [170865313, 170865450], [170871790, 170871876], [170885855, 170885958], [170897391, 170897495], [170911969, 170912094], [170917588, 170917696], [170917827, 170917953], [170929937, 170930117], [170936323, 170936533], [170937054, 170937194], [170938235, 170940641]] [[170684017, 170684562], [170728745, 170728885], [170732300, 170732459], [170734003, 170734147], [170735034, 170735084], [170747674, 170747741], [170751690, 170751821], [170753016, 170753245], [170761623, 170761803], [170762540, 170762674], [170770569, 170770656], [170780438, 170780504], [170780593, 170780683], [170782128, 170782257], [170783201, 170783254], [170783347, 170783481], [170783829, 170783917], [170785238, 170785378], [170789421, 170789518], [170799002, 170799144], [170802797, 170802902], [170804051, 170804225], [170806114, 170806575], [170814947, 170815036], [170843154, 170843304], [170850832, 170850966], [170857813, 170857924], [170863499, 170863700], [170865313, 170865450], [170871790, 170871876], [170885855, 170885958], [170897391, 170897495], [170911969, 170912094], [170917588, 170917696], [170917827, 170917953], [170929937, 170930117], [170936323, 170936533], [170937054, 170937194], [170938235, 170938353]]
ENST00000418381 [[170684017, 170684562], [170728745, 170728885], [170732300, 170732459], [170734003, 170734147], [170735034, 170735084], [170747674, 170747741], [170751690, 170751821], [170753016, 170753245], [170761623, 170761803], [170762540, 170762674], [170770569, 170770656], [170780438, 170780504], [170780593, 170780683], [170782128, 170782257], [170783201, 170783254], [170783347, 170783481], [170783829, 170783915], [170785236, 170785378], [170789421, 170789518], [170799002, 170799144], [170802797, 170802902], [170804051, 170804225], [170806114, 170806575], [170814947, 170815036], [170843154, 170843304], [170850832, 170850966], [170857813, 170857924], [170863499, 170863700], [170865313, 170865450], [170871790, 170871876], [170885855, 170885958], [170897391, 170897495], [170911969, 170912094], [170917588, 170917696], [170917827, 170917953], [170929937, 170930117], [170936323, 170936533], [170937054, 170937194], [170938235, 170940637]] [[170684017, 170684562], [170728745, 170728885], [170732300, 170732459], [170734003, 170734147], [170735034, 170735084], [170747674, 170747741], [170751690, 170751821], [170753016, 170753245], [170761623, 170761803], [170762540, 170762674], [170770569, 170770656], [170780438, 170780504], [170780593, 170780683], [170782128, 170782257], [170783201, 170783254], [170783347, 170783481], [170783829, 170783915], [170785236, 170785378], [170789421, 170789518], [170799002, 170799144], [170802797, 170802902], [170804051, 170804225], [170806114, 170806575], [170814947, 170815036], [170843154, 170843304], [170850832, 170850966], [170857813, 170857924], [170863499, 170863700], [170865313, 170865450], [170871790, 170871876], [170885855, 170885958], [170897391, 170897495], [170911969, 170912094], [170917588, 170917696], [170917827, 170917953], [170929937, 170930117], [170936323, 170936533], [170937054, 170937194], [170938235, 170938353]]
ENST00000430321 [[170785370, 170785378], [170789421, 170789518], [170799002, 170799144], [170802797, 170802902], [170804051, 170804225], [170806114, 170806575], [170814947, 170815036], [170820902, 170821048], [170843243, 170843304], [170850832, 170850966], [170857813, 170857924], [170863499, 170863712], [170865313, 170865450], [170871324, 170871375], [170871790, 170871876], [170885860, 170885958], [170897391, 170897495], [170917588, 170917696], [170917827, 170917953], [170929913, 170930117], [170936323, 170936533], [170937054, 170937194], [170938235, 170940641]] [[170785370, 170785378], [170789421, 170789518], [170799002, 170799144], [170802797, 170802902], [170804051, 170804225], [170806114, 170806575], [170814947, 170815036], [170820902, 170820979]]
ENST00000392632 [[170802819, 170802902], [170804051, 170804225], [170806114, 170806575], [170814947, 170815036], [170843154, 170843304], [170850832, 170850966], [170857813, 170857924], [170863499, 170863712], [170865313, 170865450], [170871790, 170871876], [170885855, 170885958], [170897391, 170897495], [170911969, 170912094], [170917588, 170917696], [170917827, 170917953], [170929937, 170930117], [170936323, 170936533], [170937054, 170937194], [170938235, 170940630]] [[170802819, 170802902], [170804051, 170804225], [170806114, 170806575], [170814947, 170815036], [170843154, 170843304], [170850832, 170850966], [170857813, 170857924], [170863499, 170863712], [170865313, 170865450], [170871790, 170871876], [170885855, 170885958], [170897391, 170897495], [170911969, 170912094], [170917588, 170917696], [170917827, 170917953], [170929937, 170930117], [170936323, 170936533], [170937054, 170937194], [170938235, 170938353]]
ENST00000392631 [[170821379, 170821476], [170843154, 170843304], [170850832, 170850966], [170857813, 170857924], [170863499, 170863700], [170865313, 170865450], [170871790, 170871876], [170885855, 170885958], [170897391, 170897495], [170911969, 170912094], [170917588, 170917696], [170917827, 170917953], [170929937, 170930117], [170936323, 170936533], [170937054, 170937194], [170938235, 170940637]] [[170821379, 170821476], [170843154, 170843304], [170850832, 170850966], [170857813, 170857924], [170863499, 170863700], [170865313, 170865450], [170871790, 170871876], [170885855, 170885958], [170897391, 170897495], [170911969, 170912094], [170917588, 170917696], [170917827, 170917953], [170929937, 170930117], [170936323, 170936533], [170937054, 170937194], [170938235, 170938353]]
ENST00000439681 [[170857882, 170857924], [170863499, 170863700], [170865313, 170865450], [170871790, 170871876], [170873342, 170873429], [170885855, 170885958], [170897391, 170897495], [170911969, 170912094], [170917588, 170917696], [170917827, 170917953], [170929937, 170930117], [170936323, 170936533], [170937054, 170937194], [170938235, 170938769]] [[170857882, 170857924], [170863499, 170863700], [170865313, 170865450], [170871790, 170871876], [170873342, 170873429], [170885855, 170885958], [170897391, 170897495], [170911969, 170912094], [170917588, 170917696], [170917827, 170917953], [170929937, 170930117], [170936323, 170936533], [170937054, 170937194], [170938235, 170938353]]
ENST00000444475 [[170865349, 170865450], [170870350, 170870482], [170871790, 170871876], [170885855, 170885958], [170897391, 170897495], [170911969, 170912094], [170917588, 170917696], [170917827, 170917953], [170929937, 170930117], [170936323, 170936533], [170937054, 170937194], [170938235, 170940641]] [[170865349, 170865450], [170870350, 170870482], [170871790, 170871791]]
ENST00000474426 [[170871312, 170871876], [170885855, 170885958], [170897391, 170897495], [170911969, 170912094], [170917588, 170917696], [170917827, 170917953], [170929937, 170930117], [170936323, 170936533], [170937054, 170937194], [170938235, 170940641]] None
ENST00000477461 [[170803918, 170804225], [170806114, 170806402]] None
ENST00000487689 [[170805991, 170806575], [170814947, 170815031]] None
ENST00000465630 [[170870549, 170870949], [170871790, 170871876], [170885855, 170885945]] None
ENST00000484596 [[170936533, 170937194], [170938235, 170938365]] None
NM_172070 [[170684017, 170684562], [170728745, 170728885], [170732300, 170732459], [170734003, 170734147], [170735034, 170735084], [170747674, 170747741], [170751690, 170751821], [170753016, 170753245], [170761623, 170761803], [170762540, 170762674], [170770569, 170770656], [170780438, 170780504], [170780593, 170780683], [170782128, 170782257], [170783201, 170783254], [170783347, 170783481], [170783829, 170783915], [170785236, 170785378], [170789421, 170789518], [170799002, 170799144], [170802797, 170802902], [170804051, 170804225], [170806114, 170806575], [170814947, 170815036], [170843154, 170843304], [170850832, 170850966], [170857813, 170857924], [170863499, 170863700], [170865313, 170865450], [170871790, 170871876], [170885855, 170885958], [170897391, 170897495], [170911969, 170912094], [170917588, 170917696], [170917827, 170917953], [170929937, 170930117], [170936323, 170936533], [170937054, 170937194], [170938235, 170940641]] [[170684017, 170684562], [170728745, 170728885], [170732300, 170732459], [170734003, 170734147], [170735034, 170735084], [170747674, 170747741], [170751690, 170751821], [170753016, 170753245], [170761623, 170761803], [170762540, 170762674], [170770569, 170770656], [170780438, 170780504], [170780593, 170780683], [170782128, 170782257], [170783201, 170783254], [170783347, 170783481], [170783829, 170783915], [170785236, 170785378], [170789421, 170789518], [170799002, 170799144], [170802797, 170802902], [170804051, 170804225], [170806114, 170806575], [170814947, 170815036], [170843154, 170843304], [170850832, 170850966], [170857813, 170857924], [170863499, 170863700], [170865313, 170865450], [170871790, 170871876], [170885855, 170885958], [170897391, 170897495], [170911969, 170912094], [170917588, 170917696], [170917827, 170917953], [170929937, 170930117], [170936323, 170936533], [170937054, 170937194], [170938235, 170938353]]
Promoter
Chrom Start End Description
chr2 170683918 170683927 CAGE_peak_3_at_UBR3_5end
chr2 170683942 170683972 CAGE_peak_1_at_UBR3_5end
chr2 170683979 170683991 CAGE_peak_2_at_UBR3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I169818 169818747 169819687 0.38 [{'connected_gene': 'SSB', 'score': 7.74}, {'connected_gene': 'PHOSPHO2', 'score': 5.77}, {'connected_gene': 'UBR3', 'score': 4.68}, {'connected_gene': 'METTL5', 'score': 0.44}, {'connected_gene': 'GC02P169805', 'score': 0.39}]
chr2 GH02I169798 169798024 169800805 2.02 [{'connected_gene': 'SSB', 'score': 557.86}, {'connected_gene': 'UBR3', 'score': 11.98}, {'connected_gene': 'METTL5', 'score': 11.98}, {'connected_gene': 'PHOSPHO2', 'score': 7.11}, {'connected_gene': 'GC02P169805', 'score': 0.44}]
chr2 GH02I170005 170005831 170005980 0.75 [{'connected_gene': 'SSB', 'score': 5.83}, {'connected_gene': 'GC02P169970', 'score': 0.28}, {'connected_gene': 'LOC100421689', 'score': 0.19}, {'connected_gene': 'UBR3', 'score': 0.1}]
chr2 GH02I169709 169709498 169713599 0.92 [{'connected_gene': 'PHOSPHO2', 'score': 29.65}, {'connected_gene': 'PPIG', 'score': 20.12}, {'connected_gene': 'SSB', 'score': 16.07}, {'connected_gene': 'CCDC173', 'score': 15.9}, {'connected_gene': 'CYB5AP2', 'score': 10.89}, {'connected_gene': 'METTL5', 'score': 10.72}, {'connected_gene': 'UBR3', 'score': 10.71}, {'connected_gene': 'GC02P169728', 'score': 0.37}, {'connected_gene': 'KLHL23', 'score': 0.37}, {'connected_gene': 'PHOSPHO2-KLHL23', 'score': 0.37}]
chr2 GH02I169822 169822676 169825881 2.06 [{'connected_gene': 'METTL5', 'score': 558.61}, {'connected_gene': 'SSB', 'score': 7.72}, {'connected_gene': 'PHOSPHO2', 'score': 7.09}, {'connected_gene': 'UBR3', 'score': 6.07}, {'connected_gene': 'LOC100421689', 'score': 4.71}, {'connected_gene': 'GC02P169805', 'score': 0.37}]
chr2 GH02I170013 170013097 170014943 1.36 [{'connected_gene': 'METTL5', 'score': 7.3}, {'connected_gene': 'UBR3', 'score': 5.41}, {'connected_gene': 'GC02P169970', 'score': 0.26}, {'connected_gene': 'LOC100421689', 'score': 0.21}]
chr2 GH02I169962 169962051 169962220 0.2 [{'connected_gene': 'METTL5', 'score': 9.95}, {'connected_gene': 'UBR3', 'score': 9.95}, {'connected_gene': 'GC02P169970', 'score': 0.44}, {'connected_gene': 'GC02P169866', 'score': 0.15}]
chr2 GH02I169925 169925901 169926626 0.84 [{'connected_gene': 'METTL5', 'score': 16.91}, {'connected_gene': 'UBR3', 'score': 11.61}, {'connected_gene': 'GC02P169970', 'score': 0.26}, {'connected_gene': 'GC02P169866', 'score': 0.22}]
chr2 GH02I170084 170084419 170086995 1.05 [{'connected_gene': 'MYO3B', 'score': 10.0}, {'connected_gene': 'METTL5', 'score': 8.32}, {'connected_gene': 'UBR3', 'score': 7.58}, {'connected_gene': 'KLHL23', 'score': 6.01}, {'connected_gene': 'SSB', 'score': 5.67}, {'connected_gene': 'LOC100421689', 'score': 0.44}, {'connected_gene': 'RNU6-1006P', 'score': 0.29}]
chr2 GH02I170051 170051851 170052724 0.79 [{'connected_gene': 'MYO3B', 'score': 9.85}, {'connected_gene': 'METTL5', 'score': 6.39}, {'connected_gene': 'UBR3', 'score': 5.12}, {'connected_gene': 'LOC100421689', 'score': 0.31}, {'connected_gene': 'GC02P169970', 'score': 0.18}]
chr2 GH02I170001 170001983 170002831 0.2 [{'connected_gene': 'UBR3', 'score': 5.38}, {'connected_gene': 'SSB', 'score': 4.84}, {'connected_gene': 'GC02P169970', 'score': 0.29}, {'connected_gene': 'LOC100421689', 'score': 0.18}]
chr2 GH02I169826 169826831 169829413 2.33 [{'connected_gene': 'UBR3', 'score': 557.02}, {'connected_gene': 'METTL5', 'score': 6.84}, {'connected_gene': 'FASTKD1', 'score': 4.88}, {'connected_gene': 'MYO3B', 'score': 4.82}, {'connected_gene': 'PPIG', 'score': 3.78}, {'connected_gene': 'PHOSPHO2', 'score': 2.04}, {'connected_gene': 'CCDC173', 'score': 1.81}, {'connected_gene': 'GC02P169866', 'score': 0.28}]
chr2 GH02I169815 169815144 169816521 0.65 [{'connected_gene': 'UBR3', 'score': 5.08}, {'connected_gene': 'METTL5', 'score': 0.44}, {'connected_gene': 'GC02P169805', 'score': 0.39}]
chr2 GH02I170567 170567282 170568594 0.52 [{'connected_gene': 'UBR3', 'score': 4.85}, {'connected_gene': 'ENSG00000239467', 'score': 4.5}, {'connected_gene': 'HMGB1P4', 'score': 0.29}, {'connected_gene': 'GC02P170510', 'score': 0.22}, {'connected_gene': 'MYO3B', 'score': 0.05}]
chr2 GH02I169736 169736601 169737200 0.7 [{'connected_gene': 'CCDC173', 'score': 13.46}, {'connected_gene': 'CYB5AP2', 'score': 11.05}, {'connected_gene': 'SSB', 'score': 11.04}, {'connected_gene': 'UBR3', 'score': 4.91}, {'connected_gene': 'GC02M169725', 'score': 0.44}, {'connected_gene': 'GC02P169749', 'score': 0.39}, {'connected_gene': 'KLHL23', 'score': 0.26}, {'connected_gene': 'PHOSPHO2-KLHL23', 'score': 0.26}]
chr2 GH02I170077 170077395 170078604 0.51 [{'connected_gene': 'LOC100421689', 'score': 555.18}, {'connected_gene': 'UBR3', 'score': 9.14}, {'connected_gene': 'GC02P169970', 'score': 0.14}]
chr2 GH02I170079 170079716 170080496 0.2 [{'connected_gene': 'LOC100421689', 'score': 550.77}, {'connected_gene': 'RNU6-1006P', 'score': 0.28}, {'connected_gene': 'UBR3', 'score': 0.07}]
chr2 GH02I169775 169775871 169776020 0.67 [{'connected_gene': 'GC02P169777', 'score': 550.77}, {'connected_gene': 'METTL5', 'score': 11.2}, {'connected_gene': 'UBR3', 'score': 11.19}, {'connected_gene': 'PTCHD3P2', 'score': 0.44}, {'connected_gene': 'KLHL23', 'score': 0.18}]
chr2 GH02I170022 170022791 170022940 0.52 [{'connected_gene': 'GC02P169970', 'score': 0.23}, {'connected_gene': 'LOC100421689', 'score': 0.22}, {'connected_gene': 'UBR3', 'score': 0.08}]
chr2 GH02I169528 169528331 169528500 0.97 [{'connected_gene': 'GC02M169527', 'score': 550.77}, {'connected_gene': 'GC02M169526', 'score': 550.77}, {'connected_gene': 'CYB5AP2', 'score': 11.41}, {'connected_gene': 'SSB', 'score': 11.41}, {'connected_gene': 'UBR3', 'score': 10.47}, {'connected_gene': 'METTL5', 'score': 10.47}, {'connected_gene': 'FASTKD1', 'score': 5.81}]

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