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
ENST00000260665 [[44113646, 44115795], [44116872, 44117015], [44121683, 44121768], [44123772, 44123847], [44126357, 44126473], [44126604, 44126744], [44128458, 44128663], [44132830, 44132919], [44139570, 44139697], [44145163, 44145272], [44145394, 44145537], [44152205, 44152296], [44153031, 44153100], [44161328, 44161435], [44161892, 44162017], [44170825, 44171033], [44172470, 44172556], [44173251, 44173382], [44174395, 44174509], [44174869, 44174914], [44175260, 44175338], [44175550, 44175657], [44176740, 44176798], [44177711, 44177739], [44184523, 44184590], [44187679, 44187773], [44190726, 44190845], [44200745, 44200853], [44200933, 44201039], [44201288, 44201434], [44201752, 44201897], [44202229, 44202356], [44203281, 44203368], [44204132, 44204191], [44204293, 44204415], [44206964, 44207087], [44209376, 44209573], [44222937, 44223144]] [[44115738, 44115795], [44116872, 44117015], [44121683, 44121768], [44123772, 44123847], [44126357, 44126473], [44126604, 44126744], [44128458, 44128663], [44132830, 44132919], [44139570, 44139697], [44145163, 44145272], [44145394, 44145537], [44152205, 44152296], [44153031, 44153100], [44161328, 44161435], [44161892, 44162017], [44170825, 44171033], [44172470, 44172556], [44173251, 44173382], [44174395, 44174509], [44174869, 44174914], [44175260, 44175338], [44175550, 44175657], [44176740, 44176798], [44177711, 44177739], [44184523, 44184590], [44187679, 44187773], [44190726, 44190845], [44200745, 44200853], [44200933, 44201039], [44201288, 44201434], [44201752, 44201897], [44202229, 44202356], [44203281, 44203368], [44204132, 44204191], [44204293, 44204415], [44206964, 44207087], [44209376, 44209573], [44222937, 44223086]]
ENST00000419884 [[44115416, 44115795], [44116872, 44117015], [44117361, 44117501], [44121683, 44121768], [44123772, 44123847], [44126357, 44126423]] [[44117493, 44117501], [44121683, 44121768], [44123772, 44123847], [44126357, 44126423]]
ENST00000463456 [[44115417, 44115795], [44116872, 44117015], [44121683, 44121768], [44123772, 44123847], [44126357, 44126473], [44126604, 44126744], [44128458, 44131070]] None
ENST00000472420 [[44123375, 44123847], [44126357, 44126473], [44126604, 44126710]] None
ENST00000483489 [[44123582, 44123847], [44126357, 44126473], [44126604, 44126787]] None
ENST00000467058 [[44175564, 44175657], [44176740, 44176798], [44177711, 44177739], [44184523, 44184590], [44187679, 44187773], [44190726, 44190943]] None
ENST00000409946 [[44186124, 44186359], [44187679, 44187773], [44190726, 44190845], [44200745, 44200853], [44200933, 44201039], [44201288, 44201434], [44201752, 44201897], [44202229, 44202356], [44203281, 44203368], [44204132, 44204191], [44204293, 44204415], [44206964, 44207087], [44209376, 44209573], [44222937, 44223117]] [[44186345, 44186359], [44187679, 44187773], [44190726, 44190845], [44200745, 44200853], [44200933, 44201039], [44201288, 44201434], [44201752, 44201897], [44202229, 44202356], [44203281, 44203368], [44204132, 44204191], [44204293, 44204415], [44206964, 44207087], [44209376, 44209573], [44222937, 44223086]]
ENST00000409659 [[44190646, 44190845], [44200745, 44200853], [44200933, 44201039], [44201288, 44201434], [44201752, 44201897], [44202229, 44202356], [44203281, 44203368], [44204132, 44204191], [44204293, 44204415], [44206964, 44207087], [44209376, 44209573], [44222937, 44223128]] [[44190699, 44190845], [44200745, 44200853], [44200933, 44201039], [44201288, 44201434], [44201752, 44201897], [44202229, 44202356], [44203281, 44203368], [44204132, 44204191], [44204293, 44204415], [44206964, 44207087], [44209376, 44209573], [44222937, 44223086]]
ENST00000447246 [[44201288, 44201434], [44201752, 44201897], [44202229, 44202356], [44203281, 44203368], [44204132, 44204191], [44204293, 44204415], [44206964, 44207087], [44209376, 44209573], [44222912, 44223115]] [[44201288, 44201434], [44201752, 44201897], [44202229, 44202356], [44203281, 44203368], [44204132, 44204191], [44204293, 44204415], [44206964, 44207087], [44209376, 44209573], [44222912, 44222983]]
NM_133259 [[44113362, 44115795], [44116872, 44117015], [44121683, 44121768], [44123772, 44123847], [44126357, 44126473], [44126604, 44126744], [44128458, 44128663], [44132830, 44132919], [44139570, 44139697], [44145163, 44145272], [44145394, 44145537], [44152205, 44152296], [44153031, 44153100], [44161328, 44161435], [44161892, 44162017], [44170825, 44171033], [44172470, 44172556], [44173251, 44173382], [44174395, 44174509], [44174869, 44174914], [44175260, 44175338], [44175550, 44175657], [44176740, 44176798], [44177711, 44177739], [44184523, 44184590], [44187679, 44187773], [44190726, 44190845], [44200745, 44200853], [44200933, 44201039], [44201288, 44201434], [44201752, 44201897], [44202229, 44202356], [44203281, 44203368], [44204132, 44204191], [44204293, 44204415], [44206964, 44207087], [44209376, 44209573], [44222937, 44223144]] [[44115738, 44115795], [44116872, 44117015], [44121683, 44121768], [44123772, 44123847], [44126357, 44126473], [44126604, 44126744], [44128458, 44128663], [44132830, 44132919], [44139570, 44139697], [44145163, 44145272], [44145394, 44145537], [44152205, 44152296], [44153031, 44153100], [44161328, 44161435], [44161892, 44162017], [44170825, 44171033], [44172470, 44172556], [44173251, 44173382], [44174395, 44174509], [44174869, 44174914], [44175260, 44175338], [44175550, 44175657], [44176740, 44176798], [44177711, 44177739], [44184523, 44184590], [44187679, 44187773], [44190726, 44190845], [44200745, 44200853], [44200933, 44201039], [44201288, 44201434], [44201752, 44201897], [44202229, 44202356], [44203281, 44203368], [44204132, 44204191], [44204293, 44204415], [44206964, 44207087], [44209376, 44209573], [44222937, 44223086]]
Promoter
Chrom Start End Description
chr2 44223089 44223135 CAGE_peak_1_at_LRPPRC_5end
chr2 44223138 44223149 CAGE_peak_2_at_LRPPRC_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I043884 43884682 43884931 0.62 [{'connected_gene': 'ABCG5', 'score': 11.35}, {'connected_gene': 'ABCG8', 'score': 11.33}, {'connected_gene': 'PLEKHH2', 'score': 9.67}, {'connected_gene': 'LRPPRC', 'score': 9.24}, {'connected_gene': 'GC02P043893', 'score': 0.44}, {'connected_gene': 'LOC102725159', 'score': 0.26}]
chr2 GH02I043837 43837822 43839363 1.32 [{'connected_gene': 'ABCG5', 'score': 550.77}, {'connected_gene': 'ABCG8', 'score': 550.44}, {'connected_gene': 'LRPPRC', 'score': 4.67}]
chr2 GH02I044166 44166856 44172043 2.31 [{'connected_gene': 'PPM1B', 'score': 554.7}, {'connected_gene': 'LOC102723904', 'score': 550.77}, {'connected_gene': 'THADA', 'score': 22.23}, {'connected_gene': 'RNU6-1048P', 'score': 12.62}, {'connected_gene': 'LRPPRC', 'score': 4.86}, {'connected_gene': 'PDSS1P2', 'score': 0.77}, {'connected_gene': 'RPL12P19', 'score': 0.15}, {'connected_gene': 'GC02M044085', 'score': 0.03}]
chr2 GH02I043536 43536883 43541814 1.21 [{'connected_gene': 'PLEKHH2', 'score': 6.56}, {'connected_gene': 'ENSG00000234936', 'score': 5.68}, {'connected_gene': 'THADA', 'score': 4.88}, {'connected_gene': 'LRPPRC', 'score': 4.77}, {'connected_gene': 'ZFP36L2', 'score': 4.1}, {'connected_gene': 'GC02M043477', 'score': 0.26}]
chr2 GH02I044075 44075206 44076510 0.68 [{'connected_gene': 'RNU6-566P', 'score': 10.99}, {'connected_gene': 'SLC3A1', 'score': 10.9}, {'connected_gene': 'LRPPRC', 'score': 4.8}, {'connected_gene': 'ENSG00000219391', 'score': 0.44}]
chr2 GH02I044176 44176801 44177000 0.2 [{'connected_gene': 'RNU6-566P', 'score': 11.51}, {'connected_gene': 'LRPPRC', 'score': 4.91}, {'connected_gene': 'LOC102723904', 'score': 0.44}, {'connected_gene': 'PPM1B', 'score': 0.44}, {'connected_gene': 'RPL12P19', 'score': 0.16}, {'connected_gene': 'GC02M044085', 'score': 0.03}]
chr2 GH02I043939 43939677 43939991 0.51 [{'connected_gene': 'RN7SL455P', 'score': 0.28}, {'connected_gene': 'LRPPRC', 'score': 0.22}, {'connected_gene': 'GC02P043995', 'score': 0.22}]
chr2 GH02I043943 43943896 43944151 0.76 [{'connected_gene': 'RN7SL455P', 'score': 0.28}, {'connected_gene': 'LRPPRC', 'score': 0.23}, {'connected_gene': 'GC02P043995', 'score': 0.23}]
chr2 GH02I043945 43944180 43944378 0.76 [{'connected_gene': 'RN7SL455P', 'score': 0.28}, {'connected_gene': 'LRPPRC', 'score': 0.23}, {'connected_gene': 'GC02P043995', 'score': 0.23}]
chr2 GH02I043905 43905275 43905690 0.74 [{'connected_gene': 'RN7SL455P', 'score': 550.77}, {'connected_gene': 'LRPPRC', 'score': 0.16}, {'connected_gene': 'GC02P043995', 'score': 0.16}]
chr2 GH02I043906 43905782 43906103 0.58 [{'connected_gene': 'RN7SL455P', 'score': 550.77}, {'connected_gene': 'LRPPRC', 'score': 0.16}, {'connected_gene': 'GC02P043995', 'score': 0.16}]
chr2 GH02I043994 43994468 43997115 2.07 [{'connected_gene': 'LRPPRC', 'score': 565.93}, {'connected_gene': 'GC02P043995', 'score': 550.77}, {'connected_gene': 'THADA', 'score': 25.73}, {'connected_gene': 'RNU6-1048P', 'score': 19.53}, {'connected_gene': 'RN7SL455P', 'score': 0.16}]
chr2 GH02I044243 44243747 44246818 0.94 [{'connected_gene': 'LRPPRC', 'score': 5.76}, {'connected_gene': 'PPM1B', 'score': 5.13}, {'connected_gene': 'RPL12P19', 'score': 0.31}, {'connected_gene': 'LOC102723904', 'score': 0.18}, {'connected_gene': 'GC02M044085', 'score': 0.05}]
chr2 GH02I043948 43948280 43948769 0.58 [{'connected_gene': 'LRPPRC', 'score': 10.58}, {'connected_gene': 'RN7SL455P', 'score': 0.26}, {'connected_gene': 'GC02P043995', 'score': 0.25}]
chr2 GH02I043946 43946862 43947079 0.51 [{'connected_gene': 'LRPPRC', 'score': 19.34}, {'connected_gene': 'RN7SL455P', 'score': 0.26}, {'connected_gene': 'GC02P043995', 'score': 0.25}]
chr2 GH02I043985 43985056 43985282 0.57 [{'connected_gene': 'LRPPRC', 'score': 9.35}, {'connected_gene': 'GC02P043995', 'score': 0.39}, {'connected_gene': 'RN7SL455P', 'score': 0.18}]
chr2 GH02I043944 43944966 43945189 0.63 [{'connected_gene': 'LRPPRC', 'score': 11.08}, {'connected_gene': 'RN7SL455P', 'score': 0.26}, {'connected_gene': 'GC02P043995', 'score': 0.23}]
chr2 GH02I043881 43881222 43882427 0.85 [{'connected_gene': 'LRPPRC', 'score': 5.95}, {'connected_gene': 'GC02P043893', 'score': 0.39}, {'connected_gene': 'LOC102725159', 'score': 0.28}]
chr2 GH02I044183 44183218 44185017 0.83 [{'connected_gene': 'LRPPRC', 'score': 5.05}, {'connected_gene': 'LOC102723904', 'score': 0.37}, {'connected_gene': 'PPM1B', 'score': 0.37}, {'connected_gene': 'RPL12P19', 'score': 0.17}, {'connected_gene': 'GC02M044085', 'score': 0.04}]
chr2 GH02I044233 44233082 44235924 1 [{'connected_gene': 'LRPPRC', 'score': 5.01}, {'connected_gene': 'LOC100421122', 'score': 4.21}, {'connected_gene': 'RPL12P19', 'score': 0.28}, {'connected_gene': 'LOC102723904', 'score': 0.2}, {'connected_gene': 'PPM1B', 'score': 0.2}, {'connected_gene': 'GC02M044085', 'score': 0.05}]
chr2 GH02I044237 44237025 44237952 0.66 [{'connected_gene': 'LRPPRC', 'score': 4.69}, {'connected_gene': 'RPL12P19', 'score': 0.29}, {'connected_gene': 'LOC102723904', 'score': 0.2}, {'connected_gene': 'PPM1B', 'score': 0.2}, {'connected_gene': 'GC02M044085', 'score': 0.05}]
chr2 GH02I044248 44248077 44248231 0.38 [{'connected_gene': 'LRPPRC', 'score': 4.76}, {'connected_gene': 'RPL12P19', 'score': 0.34}, {'connected_gene': 'LOC102723904', 'score': 0.18}, {'connected_gene': 'GC02M044085', 'score': 0.04}]
chr2 GH02I044044 44044103 44044800 1.11 [{'connected_gene': 'LRPPRC', 'score': 15.62}, {'connected_gene': 'ENSG00000219391', 'score': 0.34}, {'connected_gene': 'GC02P044023', 'score': 0.34}]
chr2 GH02I043897 43897009 43897243 0.51 [{'connected_gene': 'GC02M043891', 'score': 0.77}, {'connected_gene': 'RN7SL455P', 'score': 0.44}, {'connected_gene': 'LRPPRC', 'score': 0.15}]

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