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
ENST00000404233 [[118914899, 118916366], [118916492, 118916543], [118917128, 118917179], [118917273, 118917514], [118918445, 118918530], [118918658, 118918792], [118918959, 118919082], [118919187, 118919275], [118919425, 118919598], [118919729, 118919915], [118920267, 118920347], [118920488, 118920549], [118921746, 118921885], [118922149, 118922337], [118922530, 118922663], [118922801, 118922884], [118923006, 118923141], [118923348, 118923541], [118924832, 118924948], [118925205, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926879], [118927730, 118927848]] [[118916304, 118916366], [118916492, 118916543], [118917128, 118917179], [118917273, 118917514], [118918445, 118918530], [118918658, 118918792], [118918959, 118919082], [118919187, 118919275], [118919425, 118919598], [118919729, 118919915], [118920267, 118920347], [118920488, 118920549], [118921746, 118921885], [118922149, 118922337], [118922530, 118922663], [118922801, 118922884], [118923006, 118923141], [118923348, 118923541], [118924832, 118924948], [118925205, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926872]]
ENST00000529972 [[118914902, 118916366], [118916492, 118916543], [118917128, 118917179], [118917273, 118917514], [118918445, 118918530], [118918658, 118918792], [118918959, 118919082], [118919187, 118919275], [118919425, 118919598], [118920267, 118920347], [118920488, 118920549], [118921746, 118921885], [118922149, 118922337], [118922530, 118922663], [118922801, 118922884], [118923006, 118923141], [118923348, 118923541], [118924832, 118924948], [118925205, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926879], [118927730, 118927868]] [[118916304, 118916366], [118916492, 118916543], [118917128, 118917179], [118917273, 118917514], [118918445, 118918530], [118918658, 118918792], [118918959, 118919082], [118919187, 118919275], [118919425, 118919598], [118920267, 118920347], [118920488, 118920549], [118921746, 118921885], [118922149, 118922337], [118922530, 118922663], [118922801, 118922884], [118923006, 118923141], [118923348, 118923541], [118924832, 118924948], [118925205, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926872]]
ENST00000525859 [[118916022, 118916366], [118916492, 118916543], [118917128, 118917179], [118917273, 118917514], [118918445, 118918530], [118918658, 118918792], [118918959, 118919082], [118919187, 118919275], [118919425, 118919598], [118920267, 118920347], [118920488, 118920549], [118921746, 118921885], [118922149, 118922337], [118922530, 118922663], [118922801, 118922884], [118923006, 118923141], [118923348, 118923541], [118924832, 118924948], [118925205, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926879], [118926990, 118927129], [118927730, 118927845]] [[118916304, 118916366], [118916492, 118916543], [118917128, 118917179], [118917273, 118917514], [118918445, 118918530], [118918658, 118918792], [118918959, 118919082], [118919187, 118919275], [118919425, 118919598], [118920267, 118920347], [118920488, 118920549], [118921746, 118921885], [118922149, 118922337], [118922530, 118922663], [118922801, 118922884], [118923006, 118923141], [118923348, 118923541], [118924832, 118924948], [118925205, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926872]]
ENST00000527738 [[118917881, 118918530], [118918658, 118918818]] None
ENST00000531682 [[118919068, 118919275], [118919425, 118919537]] None
ENST00000532519 [[118919071, 118919082], [118919187, 118919275], [118919425, 118919598], [118919729, 118920082], [118920267, 118920347], [118920488, 118920549], [118921746, 118921885], [118922149, 118922337], [118922530, 118922663], [118922801, 118922884], [118923006, 118923141], [118923348, 118923541], [118924832, 118924948], [118925205, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926781, 118926879], [118927730, 118927850]] [[118926257, 118926283], [118926781, 118926872]]
ENST00000543287 [[118919071, 118919082], [118919187, 118919275], [118919425, 118919598], [118919729, 118920082], [118920267, 118920347], [118920488, 118920549], [118921746, 118921885], [118922149, 118922337], [118922530, 118922663], [118922801, 118922884], [118923006, 118923141], [118923348, 118923541], [118924832, 118924948], [118925205, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926781, 118926879], [118927730, 118927850]] [[118919947, 118920082], [118920267, 118920347], [118920488, 118920549], [118921746, 118921885], [118922149, 118922337], [118922530, 118922663], [118922801, 118922884], [118923006, 118923141], [118923348, 118923541], [118924832, 118924948], [118925205, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926207]]
ENST00000530473 [[118919751, 118919915], [118920267, 118920347], [118920488, 118920549], [118921746, 118921885], [118922149, 118922337], [118922530, 118922663], [118922801, 118922884], [118923006, 118923141], [118923348, 118923541], [118924832, 118924948], [118925205, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926879], [118927515, 118927561]] [[118919751, 118919915], [118920267, 118920347], [118920488, 118920549], [118921746, 118921885], [118922149, 118922337], [118922530, 118922663], [118922801, 118922884], [118923006, 118923141], [118923348, 118923541], [118924832, 118924948], [118925205, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926872]]
ENST00000531694 [[118923084, 118924948], [118925205, 118925387], [118925695, 118925772], [118925896, 118926130]] None
ENST00000534233 [[118925210, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926879], [118927785, 118927816]] [[118925210, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926872]]
ENST00000526656 [[118925248, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926879], [118927515, 118927735]] [[118925248, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926872]]
ENST00000531968 [[118925296, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926781, 118926879], [118927863, 118927913]] [[118926257, 118926283], [118926781, 118926872]]
ENST00000532421 [[118925727, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926879], [118927737, 118927848]] [[118925727, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926872]]
ENST00000533381 [[118925734, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926879], [118927515, 118927621]] None
ENST00000527038 [[118925744, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926879], [118927711, 118927886]] [[118925744, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926872]]
ENST00000530467 [[118925866, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926879], [118927730, 118927823]] None
ENST00000529174 [[118925913, 118926051], [118926204, 118926555], [118927785, 118927845]] None
ENST00000532752 [[118926007, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926879], [118926990, 118927116], [118927730, 118927840]] [[118926007, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926872]]
ENST00000527310 [[118926039, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926879], [118926990, 118927129], [118927785, 118927853]] [[118926039, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926872]]
ENST00000526354 [[118926200, 118926555], [118926781, 118926879], [118927730, 118927845]] None
NM_006389 [[118914895, 118916366], [118916492, 118916543], [118917128, 118917179], [118917273, 118917514], [118918445, 118918530], [118918658, 118918792], [118918959, 118919082], [118919187, 118919275], [118919425, 118919598], [118919729, 118919915], [118920267, 118920347], [118920488, 118920549], [118921746, 118921885], [118922149, 118922337], [118922530, 118922663], [118922801, 118922884], [118923006, 118923141], [118923348, 118923541], [118924832, 118924948], [118925205, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926879], [118927730, 118927957]] [[118916304, 118916366], [118916492, 118916543], [118917128, 118917179], [118917273, 118917514], [118918445, 118918530], [118918658, 118918792], [118918959, 118919082], [118919187, 118919275], [118919425, 118919598], [118919729, 118919915], [118920267, 118920347], [118920488, 118920549], [118921746, 118921885], [118922149, 118922337], [118922530, 118922663], [118922801, 118922884], [118923006, 118923141], [118923348, 118923541], [118924832, 118924948], [118925205, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926872]]
NM_001130991 [[118914895, 118916366], [118916492, 118916543], [118917128, 118917179], [118917273, 118917514], [118918445, 118918530], [118918658, 118918792], [118918959, 118919082], [118919187, 118919275], [118919425, 118919598], [118919729, 118919915], [118920267, 118920347], [118920488, 118920549], [118921746, 118921885], [118922149, 118922337], [118922530, 118922663], [118922801, 118922884], [118923006, 118923141], [118923348, 118923541], [118924832, 118924948], [118925205, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926879], [118927863, 118927957]] [[118916304, 118916366], [118916492, 118916543], [118917128, 118917179], [118917273, 118917514], [118918445, 118918530], [118918658, 118918792], [118918959, 118919082], [118919187, 118919275], [118919425, 118919598], [118919729, 118919915], [118920267, 118920347], [118920488, 118920549], [118921746, 118921885], [118922149, 118922337], [118922530, 118922663], [118922801, 118922884], [118923006, 118923141], [118923348, 118923541], [118924832, 118924948], [118925205, 118925387], [118925695, 118925772], [118925896, 118926051], [118926204, 118926283], [118926461, 118926555], [118926781, 118926872]]
Promoter
Chrom Start End Description
chr11 118927566 118927665 CAGE_peak_4_at_HYOU1_5end
chr11 118927755 118927766 CAGE_peak_7_at_HYOU1_5end
chr11 118927792 118927803 CAGE_peak_6_at_HYOU1_5end
chr11 118927817 118927862 CAGE_peak_1_at_HYOU1_5end
chr11 118927880 118927891 CAGE_peak_3_at_HYOU1_5end
chr11 118927896 118927922 CAGE_peak_2_at_HYOU1_5end
chr11 118927929 118927940 CAGE_peak_5_at_HYOU1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I119076 119076663 119079195 0.2 [{'connected_gene': 'VPS11', 'score': 30.51}, {'connected_gene': 'HMBS', 'score': 16.07}, {'connected_gene': 'C2CD2L', 'score': 13.16}, {'connected_gene': 'DPAGT1', 'score': 13.12}, {'connected_gene': 'HYOU1', 'score': 12.66}, {'connected_gene': 'ENSG00000255114', 'score': 12.62}, {'connected_gene': 'SLC37A4', 'score': 12.05}, {'connected_gene': 'RPS25', 'score': 12.03}, {'connected_gene': 'TRAPPC4', 'score': 12.03}, {'connected_gene': 'HINFP', 'score': 10.86}, {'connected_gene': 'NLRX1', 'score': 10.74}, {'connected_gene': 'UPK2', 'score': 9.68}, {'connected_gene': 'RN7SL688P', 'score': 9.3}, {'connected_gene': 'BCL9L', 'score': 9.29}, {'connected_gene': 'ENSG00000271751', 'score': 6.46}, {'connected_gene': 'ENSG00000272186', 'score': 0.39}]
chr11 GH11I118906 118906480 118931105 2.88 [{'connected_gene': 'BCL9L', 'score': 577.01}, {'connected_gene': 'DPAGT1', 'score': 32.47}, {'connected_gene': 'UBE4A', 'score': 28.16}, {'connected_gene': 'ENSG00000254909', 'score': 28.08}, {'connected_gene': 'RPL23AP64', 'score': 25.24}, {'connected_gene': 'ARCN1', 'score': 24.99}, {'connected_gene': 'ENSG00000254428', 'score': 23.08}, {'connected_gene': 'RNF26', 'score': 19.84}, {'connected_gene': 'CCDC84', 'score': 16.8}, {'connected_gene': 'KMT2A', 'score': 15.66}, {'connected_gene': 'CXCR5', 'score': 15.27}, {'connected_gene': 'MPZL2', 'score': 13.97}, {'connected_gene': 'DDX6', 'score': 13.42}, {'connected_gene': 'RPS25', 'score': 13.01}, {'connected_gene': 'VPS11', 'score': 12.54}, {'connected_gene': 'HMBS', 'score': 12.4}, {'connected_gene': 'ENSG00000222529', 'score': 12.22}, {'connected_gene': 'FOXR1', 'score': 12.22}, {'connected_gene': 'C2CD2L', 'score': 12.12}, {'connected_gene': 'ENSG00000255121', 'score': 11.37}, {'connected_gene': 'ENSG00000245869', 'score': 11.36}, {'connected_gene': 'JAML', 'score': 10.87}, {'connected_gene': 'HINFP', 'score': 10.27}, {'connected_gene': 'H2AFX', 'score': 10.24}, {'connected_gene': 'TRAPPC4', 'score': 9.9}, {'connected_gene': 'RPL5P30', 'score': 9.78}, {'connected_gene': 'UPK2', 'score': 3.43}, {'connected_gene': 'HYOU1', 'score': 2.91}, {'connected_gene': 'SLC37A4', 'score': 2.67}, {'connected_gene': 'PHLDB1', 'score': 2.39}, {'connected_gene': 'CBL', 'score': 2.38}, {'connected_gene': 'CCDC153', 'score': 1.67}, {'connected_gene': 'MIR4492', 'score': 0.44}, {'connected_gene': 'GC11P118898', 'score': 0.34}]
chr11 GH11I119741 119741169 119743373 1.09 [{'connected_gene': 'LOC102724301', 'score': 7.74}, {'connected_gene': 'HYOU1', 'score': 5.11}, {'connected_gene': 'GC11P119746', 'score': 0.77}]
chr11 GH11I119055 119055649 119058625 2.03 [{'connected_gene': 'GC11P119057', 'score': 550.77}, {'connected_gene': 'HYOU1', 'score': 550.77}, {'connected_gene': 'VPS11', 'score': 35.93}, {'connected_gene': 'RPL5P30', 'score': 14.04}, {'connected_gene': 'KMT2A', 'score': 13.36}, {'connected_gene': 'HINFP', 'score': 11.07}, {'connected_gene': 'UBE4A', 'score': 10.11}, {'connected_gene': 'HMBS', 'score': 9.1}, {'connected_gene': 'PIR44546', 'score': 0.77}]
chr11 GH11I119051 119051798 119052058 0.63 [{'connected_gene': 'PIR44546', 'score': 0.77}, {'connected_gene': 'HYOU1', 'score': 0.44}, {'connected_gene': 'ENSG00000255114', 'score': 0.44}]

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