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
ENST00000373755 [[124964855, 124967059], [124971892, 124971996], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124988654, 124988776], [124989126, 124989309], [124989687, 124989865]] [[124967038, 124967059], [124971892, 124971996], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124988654, 124988776], [124989126, 124989309], [124989687, 124989756]]
ENST00000373754 [[124964855, 124967059], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124988654, 124988776], [124989126, 124989309], [124989687, 124989865]] [[124966979, 124967059], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124988654, 124988776], [124989126, 124989309], [124989687, 124989756]]
ENST00000340587 [[124964855, 124967059], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124988654, 124988776], [124989126, 124989309], [124989687, 124989759], [124990935, 124991220]] [[124966979, 124967059], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124988654, 124988776], [124989126, 124989309], [124989687, 124989759], [124990935, 124991019]]
ENST00000394319 [[124964856, 124967059], [124971892, 124971996], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124988654, 124988776], [124989126, 124989309], [124989687, 124989759], [124990935, 124991124]] [[124967038, 124967059], [124971892, 124971996], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124988654, 124988776], [124989126, 124989309], [124989687, 124989759], [124990935, 124991019]]
ENST00000559895 [[124964861, 124967059], [124971892, 124971996], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124983327, 124984019]] [[124967038, 124967059], [124971892, 124971996], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979380]]
ENST00000541397 [[124965209, 124967059], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124988654, 124988776], [124989126, 124989309], [124989687, 124989759], [124990585, 124990707]] [[124966979, 124967059], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124988654, 124988776], [124989126, 124989309], [124989687, 124989759], [124990585, 124990636]]
ENST00000464484 [[124966409, 124967059], [124975884, 124976201]] [[124966979, 124967059], [124975884, 124975912]]
ENST00000482062 [[124966533, 124967059], [124971892, 124971996], [124975884, 124976172]] [[124967038, 124967059], [124971892, 124971996], [124975884, 124975912]]
ENST00000558672 [[124979361, 124979567], [124988654, 124989040]] None
ENST00000560152 [[124979383, 124979567], [124988654, 124988776], [124989126, 124989402]] None
ENST00000560485 [[124989277, 124989309], [124989687, 124989759], [124990078, 124990710]] [[124989277, 124989309], [124989687, 124989756]]
ENST00000559529 [[124989694, 124989759], [124990078, 124990138], [124990935, 124991104], [124991649, 124991905]] None
NM_001242335 [[124964855, 124967059], [124971892, 124971996], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124983327, 124984019]] [[124967038, 124967059], [124971892, 124971996], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979380]]
NM_001242334 [[124964855, 124967059], [124971892, 124971996], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124988654, 124988776], [124989126, 124989309], [124989687, 124989865]] [[124967038, 124967059], [124971892, 124971996], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124988654, 124988776], [124989126, 124989309], [124989687, 124989756]]
NM_001242333 [[124964855, 124967059], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124988654, 124988776], [124989126, 124989309], [124989687, 124989759], [124990585, 124990707]] [[124966979, 124967059], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124988654, 124988776], [124989126, 124989309], [124989687, 124989759], [124990585, 124990636]]
NM_014368 [[124964855, 124967059], [124971892, 124971996], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124988654, 124988776], [124989126, 124989309], [124989687, 124989759], [124990935, 124991091]] [[124967038, 124967059], [124971892, 124971996], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124988654, 124988776], [124989126, 124989309], [124989687, 124989759], [124990935, 124991019]]
NM_199160 [[124964855, 124967059], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124988654, 124988776], [124989126, 124989309], [124989687, 124989759], [124990935, 124991091]] [[124966979, 124967059], [124975884, 124976059], [124976252, 124976348], [124976561, 124976662], [124979346, 124979567], [124988654, 124988776], [124989126, 124989309], [124989687, 124989759], [124990935, 124991019]]
Promoter
Chrom Start End Description
chr9 124976154 124976177 CAGE_peak_5_at_LHX6_5end
chr9 124976185 124976212 CAGE_peak_4_at_LHX6_5end
chr9 124976299 124976327 CAGE_peak_3_at_LHX6_5end
chr9 124976328 124976372 CAGE_peak_2_at_LHX6_5end
chr9 124989804 124989824 CAGE_peak_7_at_LHX6_5end
chr9 124990680 124990719 CAGE_peak_8_at_LHX6_5end
chr9 124991204 124991246 CAGE_peak_1_at_LHX6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I122263 122263075 122266449 2.29 [{'connected_gene': 'RBM18', 'score': 559.94}, {'connected_gene': 'MRRF', 'score': 550.77}, {'connected_gene': 'LHX6', 'score': 11.31}, {'connected_gene': 'ZBTB26', 'score': 10.77}]
chr9 GH09I122221 122221502 122221632 0.54 [{'connected_gene': 'MRRF', 'score': 11.06}, {'connected_gene': 'RBM18', 'score': 11.06}, {'connected_gene': 'LHX6', 'score': 0.44}, {'connected_gene': 'GC09P122163', 'score': 0.22}]
chr9 GH09I122222 122221182 122221331 0.43 [{'connected_gene': 'MRRF', 'score': 11.06}, {'connected_gene': 'RBM18', 'score': 11.06}, {'connected_gene': 'LHX6', 'score': 0.44}, {'connected_gene': 'GC09P122163', 'score': 0.22}]
chr9 GH09I122219 122219402 122219491 0.46 [{'connected_gene': 'MRRF', 'score': 11.05}, {'connected_gene': 'RBM18', 'score': 11.05}, {'connected_gene': 'LHX6', 'score': 0.39}, {'connected_gene': 'GC09P122163', 'score': 0.22}]
chr9 GH09I122261 122261352 122262040 0.83 [{'connected_gene': 'MRRF', 'score': 0.77}, {'connected_gene': 'RBM18', 'score': 0.77}, {'connected_gene': 'LHX6', 'score': 0.29}]
chr9 GH09I122252 122252484 122253622 0.38 [{'connected_gene': 'MRRF', 'score': 0.39}, {'connected_gene': 'RBM18', 'score': 0.39}, {'connected_gene': 'LHX6', 'score': 0.34}]
chr9 GH09I122254 122254042 122255589 0.92 [{'connected_gene': 'MRRF', 'score': 0.44}, {'connected_gene': 'RBM18', 'score': 0.39}, {'connected_gene': 'LHX6', 'score': 0.31}]
chr9 GH09I122213 122213125 122214685 1.1 [{'connected_gene': 'MRRF', 'score': 11.72}, {'connected_gene': 'RBM18', 'score': 11.72}, {'connected_gene': 'TTLL11', 'score': 10.15}, {'connected_gene': 'LHX6', 'score': 0.37}, {'connected_gene': 'GC09P122163', 'score': 0.23}]
chr9 GH09I122270 122270788 122270847 0.5 [{'connected_gene': 'MRRF', 'score': 550.44}, {'connected_gene': 'LHX6', 'score': 10.9}, {'connected_gene': 'PTGS1', 'score': 10.15}, {'connected_gene': 'OR1K1', 'score': 9.57}, {'connected_gene': 'RBM18', 'score': 0.44}, {'connected_gene': 'GC09M122299', 'score': 0.31}]
chr9 GH09I122202 122202242 122202391 0.2 [{'connected_gene': 'LHX6', 'score': 11.68}, {'connected_gene': 'MRRF', 'score': 11.2}, {'connected_gene': 'RBM18', 'score': 11.2}, {'connected_gene': 'TTLL11', 'score': 9.71}, {'connected_gene': 'GC09P122163', 'score': 0.28}]
chr9 GH09I122225 122225345 122229444 1.31 [{'connected_gene': 'LHX6', 'score': 550.77}, {'connected_gene': 'MRRF', 'score': 10.74}, {'connected_gene': 'RBM18', 'score': 10.74}, {'connected_gene': 'GC09P122163', 'score': 0.21}]
chr9 GH09I122180 122180822 122180971 0.75 [{'connected_gene': 'LHX6', 'score': 11.8}, {'connected_gene': 'TTLL11', 'score': 10.16}, {'connected_gene': 'GC09P122163', 'score': 0.37}, {'connected_gene': 'MORN5', 'score': 0.34}]
chr9 GH09I122178 122178634 122180814 0.8 [{'connected_gene': 'LHX6', 'score': 11.8}, {'connected_gene': 'TTLL11', 'score': 10.16}, {'connected_gene': 'MORN5', 'score': 0.37}, {'connected_gene': 'GC09P122163', 'score': 0.37}]
chr9 GH09I122203 122203842 122204813 0.31 [{'connected_gene': 'LHX6', 'score': 11.56}, {'connected_gene': 'TTLL11-IT1', 'score': 4.81}, {'connected_gene': 'GC09P122163', 'score': 0.26}]
chr9 GH09I122205 122205961 122207068 0.31 [{'connected_gene': 'LHX6', 'score': 11.69}, {'connected_gene': 'GC09P122163', 'score': 0.26}]
chr9 GH09I122247 122247722 122250072 0.31 [{'connected_gene': 'TTLL11', 'score': 9.79}, {'connected_gene': 'RBM18', 'score': 5.99}, {'connected_gene': 'ENSG00000234156', 'score': 5.16}, {'connected_gene': 'LHX6', 'score': 0.37}, {'connected_gene': 'MRRF', 'score': 0.37}]
chr9 GH09I122131 122131702 122131851 0.46 [{'connected_gene': 'TTLL11', 'score': 11.31}, {'connected_gene': 'LHX6', 'score': 10.35}, {'connected_gene': 'OR1K1', 'score': 9.52}, {'connected_gene': 'MIR4478', 'score': 0.39}, {'connected_gene': 'NDUFA8', 'score': 0.31}]
chr9 GH09I122057 122057223 122057345 0.42 [{'connected_gene': 'TTLL11', 'score': 11.62}, {'connected_gene': 'OR1N1', 'score': 4.75}, {'connected_gene': 'OR1N2', 'score': 4.08}, {'connected_gene': 'OR1J4', 'score': 3.79}, {'connected_gene': 'MRRF', 'score': 3.75}, {'connected_gene': 'OR1J2', 'score': 3.49}, {'connected_gene': 'LHX6', 'score': 3.08}, {'connected_gene': 'DAB2IP', 'score': 1.45}, {'connected_gene': 'TTLL11-IT1', 'score': 0.16}]
chr9 GH09I122325 122325282 122325431 0.62 [{'connected_gene': 'PIR42770', 'score': 550.77}, {'connected_gene': 'PIR62540', 'score': 550.77}, {'connected_gene': 'GC09P122327', 'score': 550.77}, {'connected_gene': 'GC09P122328', 'score': 550.77}, {'connected_gene': 'MRRF', 'score': 10.85}, {'connected_gene': 'RBM18', 'score': 10.85}, {'connected_gene': 'LHX6', 'score': 10.7}, {'connected_gene': 'TTLL11', 'score': 10.49}, {'connected_gene': 'OR1K1', 'score': 9.74}]

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