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
ENST00000233114 [[63815742, 63816180], [63821621, 63821720], [63822556, 63822653], [63824532, 63824708], [63826303, 63826426], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834331]] [[63816177, 63816180], [63821621, 63821720], [63822556, 63822653], [63824532, 63824708], [63826303, 63826426], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834121]]
ENST00000409908 [[63816091, 63816180], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834225]] [[63816177, 63816180], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834121]]
ENST00000409476 [[63816106, 63816180], [63826303, 63826426], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834225]] [[63816177, 63816180], [63826303, 63826426], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834121]]
ENST00000539945 [[63816366, 63816518], [63821621, 63821720], [63822556, 63822653], [63824532, 63824708], [63826303, 63826426], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834307]] [[63816461, 63816518], [63821621, 63821720], [63822556, 63822653], [63824532, 63824708], [63826303, 63826426], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834121]]
ENST00000544381 [[63816458, 63816518], [63821621, 63821720], [63824532, 63824708], [63826303, 63826426], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834328]] [[63824600, 63824708], [63826303, 63826426], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834121]]
ENST00000394423 [[63821433, 63821436], [63821621, 63821720], [63822556, 63822653], [63824532, 63824708], [63826303, 63826426], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834328]] [[63821433, 63821436], [63821621, 63821720], [63822556, 63822653], [63824532, 63824708], [63826303, 63826426], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834121]]
ENST00000485781 [[63815742, 63816180], [63821621, 63821720], [63822556, 63822653], [63824532, 63824791]] None
ENST00000442225 [[63816096, 63816180], [63820257, 63820762], [63821621, 63821720], [63822556, 63822653]] [[63820756, 63820762], [63821621, 63821720], [63822556, 63822653]]
ENST00000485155 [[63816112, 63816180], [63821621, 63822124]] None
ENST00000436321 [[63816115, 63816180], [63817094, 63817218], [63821621, 63821720], [63822556, 63822653], [63824532, 63824708], [63826303, 63826422]] [[63822589, 63822653], [63824532, 63824708], [63826303, 63826422]]
ENST00000462944 [[63816118, 63816180], [63817536, 63818108]] None
ENST00000454035 [[63816130, 63816180], [63820573, 63820762], [63821621, 63821720], [63822556, 63822653], [63824532, 63824672]] [[63820756, 63820762], [63821621, 63821720], [63822556, 63822653], [63824532, 63824672]]
ENST00000472098 [[63816131, 63816180], [63821621, 63821720], [63824532, 63825320]] None
ENST00000432309 [[63816284, 63816518], [63821621, 63821720], [63822556, 63822653], [63824532, 63824708], [63826303, 63826426], [63831829, 63831944]] [[63816461, 63816518], [63821621, 63821720], [63822556, 63822653], [63824532, 63824708], [63826303, 63826426], [63831829, 63831944]]
ENST00000421012 [[63816458, 63816518], [63821621, 63821720], [63824532, 63824708], [63826303, 63826426], [63831829, 63831944]] [[63816461, 63816518], [63821621, 63821720], [63824532, 63824640]]
ENST00000484538 [[63824681, 63824708], [63826303, 63827186]] None
ENST00000495083 [[63832943, 63833162], [63833995, 63834328]] None
NM_001316374 [[63815742, 63816180], [63821621, 63821720], [63822556, 63822653], [63824532, 63824708], [63826303, 63826426], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834331]] [[63816177, 63816180], [63821621, 63821720], [63822556, 63822653], [63824532, 63824708], [63826303, 63826426], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834178]]
NM_005917 [[63815742, 63816180], [63821621, 63821720], [63822556, 63822653], [63824532, 63824708], [63826303, 63826426], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834331]] [[63816177, 63816180], [63821621, 63821720], [63822556, 63822653], [63824532, 63824708], [63826303, 63826426], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834121]]
NM_001199112 [[63816284, 63816518], [63821621, 63821720], [63824532, 63824708], [63826303, 63826426], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834331]] [[63824600, 63824708], [63826303, 63826426], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834121]]
NM_001199111 [[63816284, 63816518], [63821621, 63821720], [63822556, 63822653], [63824532, 63824708], [63826303, 63826426], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834331]] [[63816461, 63816518], [63821621, 63821720], [63822556, 63822653], [63824532, 63824708], [63826303, 63826426], [63831829, 63832006], [63832413, 63832527], [63833072, 63833162], [63833995, 63834121]]
Promoter
Chrom Start End Description
chr2 63816087 63816124 CAGE_peak_1_at_MDH1_5end
chr2 63816126 63816152 CAGE_peak_2_at_MDH1_5end
chr2 63816269 63816288 CAGE_peak_5_at_MDH1_5end
chr2 63816295 63816356 CAGE_peak_4_at_MDH1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I063839 63839921 63844459 2.31 [{'connected_gene': 'UGP2', 'score': 556.39}, {'connected_gene': 'WDPCP', 'score': 554.91}, {'connected_gene': 'VPS54', 'score': 16.42}, {'connected_gene': 'MDH1', 'score': 6.07}, {'connected_gene': 'LOC100507006', 'score': 4.22}, {'connected_gene': 'ENSG00000251775', 'score': 0.26}]
chr2 GH02I063862 63862198 63864364 0.51 [{'connected_gene': 'UGP2', 'score': 11.43}, {'connected_gene': 'WDPCP', 'score': 11.36}, {'connected_gene': 'MDH1', 'score': 5.2}, {'connected_gene': 'LOC100507006', 'score': 4.34}, {'connected_gene': 'ENSG00000251775', 'score': 0.34}]
chr2 GH02I063813 63813894 63817200 0.57 [{'connected_gene': 'UGP2', 'score': 18.11}, {'connected_gene': 'MDH1', 'score': 5.42}, {'connected_gene': 'LOC100507006', 'score': 4.52}, {'connected_gene': 'GC02M063810', 'score': 0.44}, {'connected_gene': 'WDPCP', 'score': 0.31}, {'connected_gene': 'GC02M063754', 'score': 0.23}]
chr2 GH02I063844 63844631 63851513 1.09 [{'connected_gene': 'UGP2', 'score': 7.39}, {'connected_gene': 'MDH1', 'score': 5.22}, {'connected_gene': 'LOC100507006', 'score': 4.46}, {'connected_gene': 'ENSG00000251775', 'score': 0.28}]
chr2 GH02I063852 63852002 63857067 0.94 [{'connected_gene': 'WDPCP', 'score': 14.7}, {'connected_gene': 'UGP2', 'score': 6.6}, {'connected_gene': 'MDH1', 'score': 5.26}, {'connected_gene': 'ENSG00000251775', 'score': 5.17}]
chr2 GH02I063871 63871187 63871401 1.25 [{'connected_gene': 'WDPCP', 'score': 11.31}, {'connected_gene': 'UGP2', 'score': 10.79}, {'connected_gene': 'MDH1', 'score': 5.11}, {'connected_gene': 'ENSG00000251775', 'score': 0.39}]
chr2 GH02I064051 64051805 64053677 0.66 [{'connected_gene': 'MDH1', 'score': 5.7}, {'connected_gene': 'UGP2', 'score': 4.23}, {'connected_gene': 'VPS54', 'score': 0.29}, {'connected_gene': 'ENSG00000228079', 'score': 0.28}, {'connected_gene': 'GC02M063958', 'score': 0.18}]
chr2 GH02I063665 63665456 63666812 0.38 [{'connected_gene': 'MDH1', 'score': 44.0}, {'connected_gene': 'RPL27P6', 'score': 0.37}, {'connected_gene': 'RPS4XP5', 'score': 0.34}, {'connected_gene': 'WDPCP', 'score': 0.09}]
chr2 GH02I064091 64091264 64092780 0.68 [{'connected_gene': 'MDH1', 'score': 11.37}, {'connected_gene': 'ENSG00000228079', 'score': 0.77}, {'connected_gene': 'GC02M063958', 'score': 0.28}, {'connected_gene': 'PELI1', 'score': 0.23}]
chr2 GH02I064100 64100860 64102786 1.03 [{'connected_gene': 'MDH1', 'score': 3.99}, {'connected_gene': 'ENSG00000228079', 'score': 0.39}, {'connected_gene': 'GC02M063958', 'score': 0.31}, {'connected_gene': 'PELI1', 'score': 0.26}]
chr2 GH02I063977 63977280 63978689 0.6 [{'connected_gene': 'MDH1', 'score': 13.14}, {'connected_gene': 'PIR48907', 'score': 0.28}, {'connected_gene': 'GC02M064016', 'score': 0.28}, {'connected_gene': 'VPS54', 'score': 0.26}, {'connected_gene': 'GC02M063913', 'score': 0.26}, {'connected_gene': 'GC02M063958', 'score': 0.1}]
chr2 GH02I063897 63897696 63899170 0.46 [{'connected_gene': 'MDH1', 'score': 5.04}, {'connected_gene': 'GC02P063893', 'score': 0.44}, {'connected_gene': 'GC02M063913', 'score': 0.28}, {'connected_gene': 'VPS54', 'score': 0.13}]
chr2 GH02I063612 63612002 63616709 1.51 [{'connected_gene': 'MDH1', 'score': 42.04}, {'connected_gene': 'WDPCP', 'score': 6.62}, {'connected_gene': 'UGP2', 'score': 1.88}, {'connected_gene': 'PIR47439', 'score': 0.44}]
chr2 GH02I063587 63587297 63592551 2.12 [{'connected_gene': 'MDH1', 'score': 595.82}, {'connected_gene': 'WDPCP', 'score': 556.4}, {'connected_gene': 'VPS54', 'score': 36.47}, {'connected_gene': 'AFTPH', 'score': 11.56}, {'connected_gene': 'PIR47439', 'score': 0.29}]
chr2 GH02I063424 63424947 63425096 0.75 [{'connected_gene': 'MDH1', 'score': 10.91}, {'connected_gene': 'WDPCP', 'score': 5.72}, {'connected_gene': 'GC02P063469', 'score': 0.26}, {'connected_gene': 'GC02P063379', 'score': 0.25}, {'connected_gene': 'GC02M063395', 'score': 0.11}]
chr2 GH02I063601 63601007 63601156 0.2 [{'connected_gene': 'MDH1', 'score': 0.39}, {'connected_gene': 'PIR47439', 'score': 0.34}, {'connected_gene': 'WDPCP', 'score': 0.07}]
chr2 GH02I063323 63323766 63323955 0.31 [{'connected_gene': 'MDH1', 'score': 27.14}, {'connected_gene': 'GC02P063276', 'score': 0.25}, {'connected_gene': 'GC02P063379', 'score': 0.22}, {'connected_gene': 'WDPCP', 'score': 0.03}]
chr2 GH02I063596 63596089 63596911 0.76 [{'connected_gene': 'MDH1', 'score': 0.44}, {'connected_gene': 'PIR47439', 'score': 0.31}, {'connected_gene': 'WDPCP', 'score': 0.07}]
chr2 GH02I063190 63190505 63195649 0.92 [{'connected_gene': 'MDH1', 'score': 16.08}, {'connected_gene': 'OTX1', 'score': 10.41}, {'connected_gene': 'ENSG00000226622', 'score': 5.49}, {'connected_gene': 'ENSG00000283636', 'score': 0.34}, {'connected_gene': 'GC02M063233', 'score': 0.26}, {'connected_gene': 'WDPCP', 'score': 0.03}]
chr2 GH02I062732 62732661 62734527 0.43 [{'connected_gene': 'MDH1', 'score': 10.67}, {'connected_gene': 'ENSG00000252436', 'score': 0.44}, {'connected_gene': 'GC02P062762', 'score': 0.31}, {'connected_gene': 'EHBP1', 'score': 0.22}]
chr2 GH02I062794 62794906 62795055 0.62 [{'connected_gene': 'MDH1', 'score': 7.81}, {'connected_gene': 'GC02P062800', 'score': 0.44}, {'connected_gene': 'GC02P062766', 'score': 0.31}, {'connected_gene': 'EHBP1', 'score': 0.13}]
chr2 GH02I064118 64118956 64125426 0.85 [{'connected_gene': 'MDH1', 'score': 10.58}, {'connected_gene': 'LOC100507006', 'score': 4.88}, {'connected_gene': 'GC02M063958', 'score': 0.44}, {'connected_gene': 'PELI1', 'score': 0.34}, {'connected_gene': 'ENSG00000228079', 'score': 0.29}]
chr2 GH02I064137 64137201 64138800 1.12 [{'connected_gene': 'MDH1', 'score': 3.97}, {'connected_gene': 'GC02M063958', 'score': 0.44}, {'connected_gene': 'LOC100507006', 'score': 0.44}, {'connected_gene': 'PELI1', 'score': 0.44}]
chr2 GH02I063662 63662388 63662855 0.31 [{'connected_gene': 'MDH1', 'score': 41.09}, {'connected_gene': 'RPS4XP5', 'score': 0.37}, {'connected_gene': 'RPL27P6', 'score': 0.34}, {'connected_gene': 'WDPCP', 'score': 0.1}]
chr2 GH02I062671 62671753 62673554 0.88 [{'connected_gene': 'EHBP1', 'score': 554.78}, {'connected_gene': 'MDH1', 'score': 4.15}, {'connected_gene': 'LOC105374764', 'score': 0.44}]
chr2 GH02I064140 64140776 64147204 2.24 [{'connected_gene': 'LOC100507006', 'score': 556.24}, {'connected_gene': 'PELI1', 'score': 550.77}, {'connected_gene': 'VPS54', 'score': 16.45}, {'connected_gene': 'MDH1', 'score': 8.11}, {'connected_gene': 'UGP2', 'score': 4.77}, {'connected_gene': 'WDPCP', 'score': 4.58}]
chr2 GH02I064113 64113338 64117257 1.2 [{'connected_gene': 'LOC100507006', 'score': 15.65}, {'connected_gene': 'PELI1', 'score': 11.11}, {'connected_gene': 'MDH1', 'score': 3.96}, {'connected_gene': 'GC02M063958', 'score': 0.37}, {'connected_gene': 'ENSG00000228079', 'score': 0.31}]
chr2 GH02I064062 64062793 64066162 1.32 [{'connected_gene': 'LOC100507006', 'score': 15.71}, {'connected_gene': 'MDH1', 'score': 12.89}, {'connected_gene': 'PELI1', 'score': 11.1}, {'connected_gene': 'WDPCP', 'score': 4.24}, {'connected_gene': 'ENSG00000228079', 'score': 0.34}, {'connected_gene': 'VPS54', 'score': 0.25}, {'connected_gene': 'GC02M063958', 'score': 0.2}]
chr2 GH02I063581 63581189 63581601 0.72 [{'connected_gene': 'GC02M063395', 'score': 0.44}, {'connected_gene': 'MDH1', 'score': 0.44}, {'connected_gene': 'WDPCP', 'score': 0.07}]
chr2 GH02I063618 63618879 63619545 0.49 [{'connected_gene': 'PIR47439', 'score': 0.77}, {'connected_gene': 'MDH1', 'score': 0.29}, {'connected_gene': 'WDPCP', 'score': 0.07}]
chr2 GH02I064128 64128379 64130763 0.57 [{'connected_gene': 'GC02M063958', 'score': 550.77}, {'connected_gene': 'MDH1', 'score': 10.97}, {'connected_gene': 'LOC100507006', 'score': 4.93}, {'connected_gene': 'PELI1', 'score': 0.39}, {'connected_gene': 'ENSG00000228079', 'score': 0.26}]
chr2 GH02I063622 63622601 63623000 0.5 [{'connected_gene': 'PIR47439', 'score': 550.77}, {'connected_gene': 'LOC388955', 'score': 550.77}, {'connected_gene': 'MDH1', 'score': 31.03}, {'connected_gene': 'WDPCP', 'score': 0.08}]

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