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
ENST00000255381 [[10346606, 10346844], [10347920, 10348016], [10348111, 10348216], [10348292, 10348463], [10348553, 10348679], [10350329, 10350533], [10351134, 10351443], [10351712, 10351837], [10351934, 10352100], [10352180, 10352364], [10353769, 10353966], [10354093, 10354212], [10354642, 10354769], [10355257, 10355647], [10355732, 10355823], [10356103, 10356249], [10356468, 10356645], [10356959, 10357202], [10357871, 10358127], [10358257, 10358394], [10358488, 10358612], [10358930, 10359048], [10359130, 10359218], [10359801, 10359872], [10360736, 10361046], [10362567, 10362738], [10363268, 10363418], [10363519, 10363638], [10364232, 10364371], [10366181, 10366285], [10366406, 10366505], [10366654, 10366718], [10366867, 10366960], [10367788, 10367903], [10367997, 10368025], [10368758, 10368915], [10369589, 10369733], [10369858, 10370101], [10372604, 10372653], [10372853, 10372876]] [[10346691, 10346844], [10347920, 10348016], [10348111, 10348216], [10348292, 10348463], [10348553, 10348679], [10350329, 10350533], [10351134, 10351443], [10351712, 10351837], [10351934, 10352100], [10352180, 10352364], [10353769, 10353966], [10354093, 10354212], [10354642, 10354769], [10355257, 10355647], [10355732, 10355823], [10356103, 10356249], [10356468, 10356645], [10356959, 10357202], [10357871, 10358127], [10358257, 10358394], [10358488, 10358612], [10358930, 10359048], [10359130, 10359218], [10359801, 10359872], [10360736, 10361046], [10362567, 10362738], [10363268, 10363418], [10363519, 10363638], [10364232, 10364371], [10366181, 10366285], [10366406, 10366505], [10366654, 10366718], [10366867, 10366960], [10367788, 10367903], [10367997, 10368025], [10368758, 10368915], [10369589, 10369733], [10369858, 10370062]]
NM_017533 [[10346606, 10346844], [10347920, 10348016], [10348111, 10348216], [10348292, 10348463], [10348553, 10348679], [10350329, 10350533], [10351134, 10351443], [10351712, 10351837], [10351934, 10352100], [10352180, 10352364], [10353769, 10353966], [10354093, 10354212], [10354642, 10354769], [10355257, 10355647], [10355732, 10355823], [10356103, 10356249], [10356468, 10356645], [10356959, 10357202], [10357871, 10358127], [10358257, 10358394], [10358488, 10358612], [10358930, 10359048], [10359130, 10359218], [10359801, 10359872], [10360736, 10361046], [10362567, 10362738], [10363268, 10363418], [10363519, 10363638], [10364232, 10364371], [10366181, 10366285], [10366406, 10366505], [10366654, 10366718], [10366867, 10366960], [10367788, 10367903], [10367997, 10368025], [10368758, 10368915], [10369589, 10369733], [10369858, 10370101], [10372604, 10372653], [10372853, 10372876]] [[10346691, 10346844], [10347920, 10348016], [10348111, 10348216], [10348292, 10348463], [10348553, 10348679], [10350329, 10350533], [10351134, 10351443], [10351712, 10351837], [10351934, 10352100], [10352180, 10352364], [10353769, 10353966], [10354093, 10354212], [10354642, 10354769], [10355257, 10355647], [10355732, 10355823], [10356103, 10356249], [10356468, 10356645], [10356959, 10357202], [10357871, 10358127], [10358257, 10358394], [10358488, 10358612], [10358930, 10359048], [10359130, 10359218], [10359801, 10359872], [10360736, 10361046], [10362567, 10362738], [10363268, 10363418], [10363519, 10363638], [10364232, 10364371], [10366181, 10366285], [10366406, 10366505], [10366654, 10366718], [10366867, 10366960], [10367788, 10367903], [10367997, 10368025], [10368758, 10368915], [10369589, 10369733], [10369858, 10370062]]
Promoter
Chrom Start End Description
chr17 10372875 10372876 CAGE_peak_1_at_MYH4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I010317 10317323 10317594 0.69 [{'connected_gene': 'MYH13', 'score': 7.68}, {'connected_gene': 'MYH4', 'score': 2.06}, {'connected_gene': 'GAS7', 'score': 1.33}, {'connected_gene': 'ENSG00000264067', 'score': 0.77}, {'connected_gene': 'PIR47100', 'score': 0.44}, {'connected_gene': 'ENSG00000273388', 'score': 0.31}, {'connected_gene': 'GC17P010287', 'score': 0.29}]
chr17 GH17I010417 10417336 10418599 0.2 [{'connected_gene': 'MYH13', 'score': 11.36}, {'connected_gene': 'MYH4', 'score': 11.08}, {'connected_gene': 'MYH8', 'score': 0.77}, {'connected_gene': 'GC17P010421', 'score': 0.77}, {'connected_gene': 'MYHAS', 'score': 0.29}, {'connected_gene': 'ENSG00000272736', 'score': 0.29}]
chr17 GH17I010125 10125282 10129474 1.26 [{'connected_gene': 'GAS7', 'score': 26.69}, {'connected_gene': 'MYH4', 'score': 6.97}, {'connected_gene': 'GC17M010130', 'score': 0.77}, {'connected_gene': 'GC17M010115', 'score': 0.44}]
chr17 GH17I010170 10170738 10173052 1.19 [{'connected_gene': 'GAS7', 'score': 23.9}, {'connected_gene': 'MYH4', 'score': 1.38}, {'connected_gene': 'GC17M010159', 'score': 0.44}]
chr17 GH17I010196 10196060 10196415 0.22 [{'connected_gene': 'GAS7', 'score': 10.74}, {'connected_gene': 'MYH4', 'score': 2.25}, {'connected_gene': 'GC17M010159', 'score': 0.29}]
chr17 GH17I010420 10420041 10422133 0.7 [{'connected_gene': 'MYH8', 'score': 550.77}, {'connected_gene': 'GC17P010421', 'score': 550.77}, {'connected_gene': 'MYH13', 'score': 11.34}, {'connected_gene': 'MYH4', 'score': 11.09}, {'connected_gene': 'MYHAS', 'score': 0.28}, {'connected_gene': 'ENSG00000272736', 'score': 0.28}]
chr17 GH17I010379 10379864 10381716 0.31 [{'connected_gene': 'MYH8', 'score': 11.59}, {'connected_gene': 'MYH4', 'score': 10.88}, {'connected_gene': 'MYHAS', 'score': 0.77}, {'connected_gene': 'ENSG00000272736', 'score': 0.77}, {'connected_gene': 'MYH13', 'score': 0.44}]
chr17 GH17I010333 10333971 10334234 0.22 [{'connected_gene': 'MYH4', 'score': 15.31}, {'connected_gene': 'ENSG00000264067', 'score': 0.39}, {'connected_gene': 'GC17P010345', 'score': 0.39}, {'connected_gene': 'MYH13', 'score': 0.28}, {'connected_gene': 'GC17P010287', 'score': 0.25}]
chr17 GH17I010091 10091965 10091973 0.24 [{'connected_gene': 'MYH4', 'score': 5.41}, {'connected_gene': 'GC17P010097', 'score': 0.44}, {'connected_gene': 'GC17M010087', 'score': 0.44}, {'connected_gene': 'PIR48956', 'score': 0.44}, {'connected_gene': 'GAS7', 'score': 0.14}]
chr17 GH17I010446 10446874 10448513 0.79 [{'connected_gene': 'MYH4', 'score': 11.88}, {'connected_gene': 'MYH8', 'score': 11.41}, {'connected_gene': 'GC17P010459', 'score': 0.39}, {'connected_gene': 'MYHAS', 'score': 0.21}, {'connected_gene': 'ENSG00000272736', 'score': 0.21}]
chr17 GH17I010556 10556026 10558072 0.31 [{'connected_gene': 'MYH4', 'score': 10.96}, {'connected_gene': 'MYH2', 'score': 0.44}, {'connected_gene': 'GC17P010567', 'score': 0.39}, {'connected_gene': 'MYHAS', 'score': 0.09}]
chr17 GH17I010512 10512992 10514174 0.2 [{'connected_gene': 'MYH4', 'score': 11.53}, {'connected_gene': 'MYH1', 'score': 0.77}, {'connected_gene': 'GC17P010483', 'score': 0.31}, {'connected_gene': 'MYHAS', 'score': 0.12}, {'connected_gene': 'ENSG00000272736', 'score': 0.12}]
chr17 GH17I010469 10469549 10469608 0.5 [{'connected_gene': 'MYH4', 'score': 550.77}, {'connected_gene': 'GC17P010483', 'score': 0.39}, {'connected_gene': 'MYHAS', 'score': 0.17}, {'connected_gene': 'ENSG00000272736', 'score': 0.17}]
chr17 GH17I010678 10678487 10678882 0.59 [{'connected_gene': 'MYH3', 'score': 550.77}, {'connected_gene': 'GC17M010678', 'score': 550.77}, {'connected_gene': 'ADPRM', 'score': 47.45}, {'connected_gene': 'ENSG00000261433', 'score': 11.53}, {'connected_gene': 'MAGOH2P', 'score': 11.17}, {'connected_gene': 'MYH4', 'score': 2.32}, {'connected_gene': 'SCO1', 'score': 0.37}]
chr17 GH17I010518 10518275 10518334 0.5 [{'connected_gene': 'MYH1', 'score': 550.77}, {'connected_gene': 'MYH4', 'score': 11.52}, {'connected_gene': 'GC17P010483', 'score': 0.29}, {'connected_gene': 'MYHAS', 'score': 0.12}, {'connected_gene': 'ENSG00000272736', 'score': 0.12}]
chr17 GH17I010382 10382525 10386442 0.49 [{'connected_gene': 'MYHAS', 'score': 550.77}, {'connected_gene': 'ENSG00000272736', 'score': 550.77}, {'connected_gene': 'MYH8', 'score': 11.6}, {'connected_gene': 'MYH4', 'score': 10.88}, {'connected_gene': 'GC17P010421', 'score': 0.28}]
chr17 GH17I010112 10112881 10122738 1.56 [{'connected_gene': 'ENSG00000261433', 'score': 13.93}, {'connected_gene': 'ADPRM', 'score': 13.06}, {'connected_gene': 'MAGOH2P', 'score': 10.69}, {'connected_gene': 'GAS7', 'score': 8.28}, {'connected_gene': 'MYH4', 'score': 6.31}, {'connected_gene': 'GC17M010115', 'score': 0.77}, {'connected_gene': 'GC17P010097', 'score': 0.37}]
chr17 GH17I010578 10578502 10580648 0.43 [{'connected_gene': 'ENSG00000214970', 'score': 550.77}, {'connected_gene': 'MYH4', 'score': 10.28}, {'connected_gene': 'GC17M010631', 'score': 0.22}, {'connected_gene': 'MYHAS', 'score': 0.08}]
chr17 GH17I010768 10768943 10769218 0.28 [{'connected_gene': 'GC17M010769', 'score': 550.77}, {'connected_gene': 'ENSG00000264016', 'score': 550.77}, {'connected_gene': 'RNU6-1065P', 'score': 11.39}, {'connected_gene': 'RPL15P21', 'score': 11.38}, {'connected_gene': 'MYH3', 'score': 10.59}, {'connected_gene': 'ADPRM', 'score': 10.46}, {'connected_gene': 'SCO1', 'score': 10.46}, {'connected_gene': 'PIRT', 'score': 4.16}, {'connected_gene': 'SHISA6', 'score': 3.43}, {'connected_gene': 'MYH4', 'score': 1.24}, {'connected_gene': 'TMEM220-AS1', 'score': 0.28}]