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
ENST00000421748 [[54091203, 54092710], [54093221, 54093360], [54093883, 54094017], [54096512, 54096675], [54101475, 54101631], [54102763, 54102892], [54112826, 54112912], [54114395, 54114604], [54114994, 54115126], [54115857, 54115949], [54117240, 54117345], [54119944, 54120097], [54120810, 54120936], [54122143, 54122213], [54122719, 54122873], [54123940, 54124022], [54125006, 54125136], [54125437, 54125491], [54127017, 54127154], [54128486, 54128696], [54131161, 54131293], [54133734, 54133830], [54133942, 54134005], [54135456, 54135555], [54135646, 54135702], [54144395, 54144413], [54176363, 54176406]] [[54093225, 54093360], [54093883, 54094017], [54096512, 54096675], [54101475, 54101631], [54102763, 54102892], [54112826, 54112912], [54114395, 54114604], [54114994, 54115126], [54115857, 54115949], [54117240, 54117345], [54119944, 54120097], [54120810, 54120936], [54122143, 54122213], [54122719, 54122873], [54123940, 54124022], [54125006, 54125136], [54125437, 54125491], [54127017, 54127154], [54128486, 54128696], [54131161, 54131293], [54133734, 54133830], [54133942, 54134005], [54135456, 54135555], [54135646, 54135702], [54144395, 54144413], [54176363, 54176406]]
ENST00000404125 [[54091203, 54092710], [54093221, 54093360], [54093883, 54094017], [54096512, 54096675], [54101475, 54101631], [54102763, 54102892], [54112826, 54112912], [54114395, 54114604], [54114994, 54115126], [54115857, 54115949], [54117240, 54117345], [54119944, 54120097], [54120810, 54120936], [54122143, 54122213], [54122719, 54122873], [54123940, 54124022], [54125006, 54125136], [54125437, 54125491], [54127017, 54127154], [54128486, 54128696], [54131161, 54131293], [54133734, 54133830], [54133942, 54134005], [54135456, 54135555], [54135646, 54135702], [54135920, 54135977], [54137211, 54137267], [54146287, 54146383], [54147329, 54147487], [54148025, 54148241], [54149653, 54149721], [54150185, 54150255], [54150457, 54150556], [54152675, 54152826], [54153095, 54153160], [54154530, 54154620], [54155253, 54155440], [54158971, 54159237], [54159804, 54159897], [54161741, 54161864], [54163223, 54163298], [54163900, 54163964], [54164527, 54164677], [54167092, 54167137], [54175557, 54175674], [54176279, 54176420], [54197679, 54197977]] [[54093225, 54093360], [54093883, 54094017], [54096512, 54096675], [54101475, 54101631], [54102763, 54102892], [54112826, 54112912], [54114395, 54114604], [54114994, 54115126], [54115857, 54115949], [54117240, 54117345], [54119944, 54120097], [54120810, 54120936], [54122143, 54122213], [54122719, 54122873], [54123940, 54124022], [54125006, 54125136], [54125437, 54125491], [54127017, 54127154], [54128486, 54128696], [54131161, 54131293], [54133734, 54133830], [54133942, 54134005], [54135456, 54135555], [54135646, 54135702], [54135920, 54135977], [54137211, 54137267], [54146287, 54146383], [54147329, 54147487], [54148025, 54148241], [54149653, 54149721], [54150185, 54150255], [54150457, 54150556], [54152675, 54152826], [54153095, 54153160], [54154530, 54154620], [54155253, 54155440], [54158971, 54159237], [54159804, 54159897], [54161741, 54161864], [54163223, 54163298], [54163900, 54163964], [54164527, 54164677], [54167092, 54167137], [54175557, 54175674], [54176279, 54176420], [54197679, 54197921]]
ENST00000389993 [[54091570, 54092710], [54093221, 54093360], [54093883, 54094017], [54096512, 54096675], [54101475, 54101631], [54102763, 54102892], [54112826, 54112912], [54114395, 54114604], [54114994, 54115126], [54115857, 54115949], [54117240, 54117345], [54119944, 54120097], [54120810, 54120936], [54122143, 54122213], [54122719, 54122873], [54123940, 54124022], [54125006, 54125136], [54125437, 54125491], [54127017, 54127154], [54128486, 54128696], [54131161, 54131293], [54133734, 54133830], [54133942, 54134005], [54135456, 54135555], [54135646, 54135702], [54135920, 54135977], [54137211, 54137267], [54146287, 54146383], [54147329, 54147487], [54148025, 54148241], [54149653, 54149721], [54150185, 54150255], [54150457, 54150556], [54153095, 54153160], [54154530, 54154620], [54155253, 54155440], [54158971, 54159237], [54159804, 54159897], [54161741, 54161864], [54163223, 54163298], [54163900, 54163964], [54164527, 54164677], [54167092, 54167137], [54175557, 54175674], [54176279, 54176420], [54197679, 54197977]] [[54150498, 54150556], [54153095, 54153160], [54154530, 54154620], [54155253, 54155440], [54158971, 54159237], [54159804, 54159897], [54161741, 54161864], [54163223, 54163298], [54163900, 54163964], [54164527, 54164677], [54167092, 54167137], [54175557, 54175674], [54176279, 54176420], [54197679, 54197921]]
ENST00000476586 [[54091997, 54092710], [54093221, 54093360], [54093883, 54094017], [54096512, 54096675], [54102763, 54102892], [54112826, 54112912], [54114395, 54114453]] None
ENST00000488687 [[54092006, 54093360], [54093883, 54094017], [54096512, 54098097]] None
ENST00000466539 [[54093284, 54093360], [54093883, 54094017], [54101475, 54101631], [54102763, 54102892], [54108592, 54108645]] None
ENST00000478731 [[54114553, 54114604], [54114994, 54115457]] None
ENST00000461810 [[54135109, 54135555], [54135646, 54135702], [54135920, 54135980]] None
ENST00000475694 [[54159192, 54159237], [54159804, 54160306]] None
ENST00000481518 [[54163231, 54163298], [54163900, 54163964], [54164527, 54164677], [54167092, 54167137], [54169295, 54169361], [54175557, 54175674], [54176279, 54176420], [54197679, 54197915]] None
NM_014614 [[54091203, 54092710], [54093221, 54093360], [54093883, 54094017], [54096512, 54096675], [54101475, 54101631], [54102763, 54102892], [54112826, 54112912], [54114395, 54114604], [54114994, 54115126], [54115857, 54115949], [54117240, 54117345], [54119944, 54120097], [54120810, 54120936], [54122143, 54122213], [54122719, 54122873], [54123940, 54124022], [54125006, 54125136], [54125437, 54125491], [54127017, 54127154], [54128486, 54128696], [54131161, 54131293], [54133734, 54133830], [54133942, 54134005], [54135456, 54135555], [54135646, 54135702], [54135920, 54135977], [54137211, 54137267], [54146287, 54146383], [54147329, 54147487], [54148025, 54148241], [54149653, 54149721], [54150185, 54150255], [54150457, 54150556], [54152675, 54152826], [54153095, 54153160], [54154530, 54154620], [54155253, 54155440], [54158971, 54159237], [54159804, 54159897], [54161741, 54161864], [54163223, 54163298], [54163900, 54163964], [54164527, 54164677], [54167092, 54167137], [54175557, 54175674], [54176279, 54176420], [54197679, 54197977]] [[54093225, 54093360], [54093883, 54094017], [54096512, 54096675], [54101475, 54101631], [54102763, 54102892], [54112826, 54112912], [54114395, 54114604], [54114994, 54115126], [54115857, 54115949], [54117240, 54117345], [54119944, 54120097], [54120810, 54120936], [54122143, 54122213], [54122719, 54122873], [54123940, 54124022], [54125006, 54125136], [54125437, 54125491], [54127017, 54127154], [54128486, 54128696], [54131161, 54131293], [54133734, 54133830], [54133942, 54134005], [54135456, 54135555], [54135646, 54135702], [54135920, 54135977], [54137211, 54137267], [54146287, 54146383], [54147329, 54147487], [54148025, 54148241], [54149653, 54149721], [54150185, 54150255], [54150457, 54150556], [54152675, 54152826], [54153095, 54153160], [54154530, 54154620], [54155253, 54155440], [54158971, 54159237], [54159804, 54159897], [54161741, 54161864], [54163223, 54163298], [54163900, 54163964], [54164527, 54164677], [54167092, 54167137], [54175557, 54175674], [54176279, 54176420], [54197679, 54197921]]
Promoter
Chrom Start End Description
chr2 54108650 54108669 CAGE_peak_9_at_PSME4_5end
chr2 54197887 54197908 CAGE_peak_4_at_PSME4_5end
chr2 54197915 54197943 CAGE_peak_3_at_PSME4_5end
chr2 54198122 54198138 CAGE_peak_2_at_PSME4_5end
chr2 54198144 54198189 CAGE_peak_1_at_PSME4_5end
chr2 54198321 54198328 CAGE_peak_13_at_PSME4_5end
chr2 54198338 54198354 CAGE_peak_5_at_PSME4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I053967 53967695 53972366 2.53 [{'connected_gene': 'ACYP2', 'score': 570.2}, {'connected_gene': 'PSME4', 'score': 555.39}, {'connected_gene': 'HMGB1P31', 'score': 7.73}, {'connected_gene': 'ASB3', 'score': 1.54}, {'connected_gene': 'GPR75-ASB3', 'score': 0.14}]
chr2 GH02I053964 53964384 53965399 1.09 [{'connected_gene': 'ACYP2', 'score': 17.84}, {'connected_gene': 'PSME4', 'score': 0.44}, {'connected_gene': 'GPR75-ASB3', 'score': 0.15}]
chr2 GH02I053949 53949644 53949793 0.31 [{'connected_gene': 'ACYP2', 'score': 0.34}, {'connected_gene': 'PSME4', 'score': 0.34}, {'connected_gene': 'GPR75-ASB3', 'score': 0.17}]
chr2 GH02I053961 53961002 53963199 0.97 [{'connected_gene': 'ACYP2', 'score': 12.9}, {'connected_gene': 'PSME4', 'score': 0.44}, {'connected_gene': 'GPR75-ASB3', 'score': 0.15}]
chr2 GH02I053945 53945401 53945600 0.43 [{'connected_gene': 'ACYP2', 'score': 0.31}, {'connected_gene': 'PSME4', 'score': 0.31}, {'connected_gene': 'GPR75-ASB3', 'score': 0.17}]
chr2 GH02I053993 53993233 53995988 1.07 [{'connected_gene': 'ACYP2', 'score': 28.23}, {'connected_gene': 'HMGB1P31', 'score': 5.38}, {'connected_gene': 'ASB3', 'score': 4.05}, {'connected_gene': 'PSME4', 'score': 2.3}, {'connected_gene': 'GC02P053991', 'score': 0.77}, {'connected_gene': 'GC02P054007', 'score': 0.39}]
chr2 GH02I053738 53738917 53739310 0.41 [{'connected_gene': 'GPR75', 'score': 5.25}, {'connected_gene': 'PSME4', 'score': 3.31}, {'connected_gene': 'GC02P053747', 'score': 0.44}, {'connected_gene': 'ASB3', 'score': 0.25}, {'connected_gene': 'GC02M053662', 'score': 0.19}, {'connected_gene': 'GPR75-ASB3', 'score': 0.13}]
chr2 GH02I054767 54767103 54768751 0.77 [{'connected_gene': 'LOC105374667', 'score': 21.8}, {'connected_gene': 'EML6', 'score': 15.76}, {'connected_gene': 'RTN4', 'score': 5.5}, {'connected_gene': 'SPTBN1', 'score': 5.37}, {'connected_gene': 'PSME4', 'score': 4.41}, {'connected_gene': 'GC02P054774', 'score': 0.44}]
chr2 GH02I053896 53896984 53897133 0.43 [{'connected_gene': 'GPR75-ASB3', 'score': 0.28}, {'connected_gene': 'ACYP2', 'score': 0.19}, {'connected_gene': 'PSME4', 'score': 0.19}]
chr2 GH02I053913 53913490 53914351 0.38 [{'connected_gene': 'GPR75-ASB3', 'score': 0.23}, {'connected_gene': 'ACYP2', 'score': 0.22}, {'connected_gene': 'PSME4', 'score': 0.22}]
chr2 GH02I053987 53987424 53987613 0.9 [{'connected_gene': 'GC02P053991', 'score': 0.77}, {'connected_gene': 'ACYP2', 'score': 0.37}, {'connected_gene': 'PSME4', 'score': 0.37}]

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