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
ENST00000277865 [[88810242, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836413], [88854081, 88854623]] [[88811507, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836413], [88854081, 88854526]]
ENST00000537649 [[88810246, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836413], [88849318, 88849545], [88851327, 88851380], [88852338, 88852411], [88853689, 88853827]] [[88811507, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836357]]
ENST00000544149 [[88811357, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836413], [88853689, 88853844]] [[88811507, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836413], [88853689, 88853735]]
ENST00000487058 [[88817474, 88817539], [88818906, 88819030], [88819917, 88820137]] None
ENST00000465164 [[88820217, 88820582], [88820671, 88820809]] None
ENST00000474574 [[88820709, 88820809], [88822412, 88822592], [88827482, 88827596]] None
NM_001318901 [[88809958, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836413], [88849318, 88849545], [88851327, 88851380], [88852338, 88852411], [88853689, 88853844]] [[88811507, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836357]]
NM_001318902 [[88809958, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836413], [88849318, 88849545], [88851327, 88851380], [88853689, 88853844]] [[88811507, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836357]]
NM_001318900 [[88809958, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836413], [88853689, 88853844]] [[88811507, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836413], [88853689, 88853735]]
NM_001318905 [[88809958, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836413], [88849318, 88849545], [88851327, 88851380], [88852338, 88852411], [88854081, 88854804]] [[88811507, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836357]]
NM_001318904 [[88809958, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836413], [88849318, 88849545], [88854081, 88854804]] [[88811507, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836357]]
NM_001318906 [[88809958, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836413], [88838240, 88838300], [88854081, 88854804]] [[88811507, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836357]]
NM_005271 [[88809958, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836413], [88854081, 88854804]] [[88811507, 88811627], [88813098, 88813161], [88817447, 88817539], [88818906, 88819030], [88819917, 88819998], [88820444, 88820582], [88820671, 88820809], [88822412, 88822592], [88827819, 88827914], [88834307, 88834371], [88835724, 88835780], [88836332, 88836413], [88854081, 88854526]]
Promoter
Chrom Start End Description
chr10 88810334 88810337 CAGE_peak_5_at_GLUD1_5end
chr10 88854518 88854634 CAGE_peak_1_at_GLUD1_5end
chr10 88854637 88854657 CAGE_peak_4_at_GLUD1_5end
chr10 88854665 88854699 CAGE_peak_3_at_GLUD1_5end
chr10 88854756 88854807 CAGE_peak_2_at_GLUD1_5end
chr10 88855122 88855162 CAGE_peak_6_at_GLUD1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I087081 87081402 87085640 1.01 [{'connected_gene': 'MMRN2', 'score': 10.86}, {'connected_gene': 'ADIRF', 'score': 10.86}, {'connected_gene': 'SNCG', 'score': 10.86}, {'connected_gene': 'FAM35A', 'score': 9.83}, {'connected_gene': 'NUTM2A-AS1', 'score': 8.11}, {'connected_gene': 'OPN4', 'score': 7.78}, {'connected_gene': 'NUTM2D', 'score': 6.84}, {'connected_gene': 'GLUD1', 'score': 0.39}, {'connected_gene': 'GC10M087058', 'score': 0.34}]
chr10 GH10I088027 88027201 88029353 1.16 [{'connected_gene': 'NUTM2A-AS1', 'score': 19.92}, {'connected_gene': 'RPL11P3', 'score': 11.34}, {'connected_gene': 'FAM35A', 'score': 10.87}, {'connected_gene': 'GLUD1', 'score': 5.36}, {'connected_gene': 'FAS', 'score': 4.67}, {'connected_gene': 'PTEN', 'score': 4.6}, {'connected_gene': 'LOC105378414', 'score': 0.39}, {'connected_gene': 'GC10M087988', 'score': 0.29}]
chr10 GH10I087091 87090401 87090600 0.58 [{'connected_gene': 'NUTM2D', 'score': 10.95}, {'connected_gene': 'FAM35A', 'score': 0.77}, {'connected_gene': 'GLUD1', 'score': 0.77}, {'connected_gene': 'GC10M087058', 'score': 0.29}]
chr10 GH10I086798 86798413 86799838 0.87 [{'connected_gene': 'BMPR1A', 'score': 36.18}, {'connected_gene': 'GLUD1', 'score': 4.43}, {'connected_gene': 'GC10M086786', 'score': 0.39}, {'connected_gene': 'RPAP2P1', 'score': 0.22}]
chr10 GH10I087107 87107092 87107471 0.26 [{'connected_gene': 'FAM35A', 'score': 11.25}, {'connected_gene': 'NUTM2A-AS1', 'score': 10.86}, {'connected_gene': 'OPN4', 'score': 7.62}, {'connected_gene': 'ENSG00000237280', 'score': 0.44}, {'connected_gene': 'GLUD1', 'score': 0.39}]
chr10 GH10I087054 87054184 87055694 0.66 [{'connected_gene': 'FAM35A', 'score': 7.58}, {'connected_gene': 'NUTM2A-AS1', 'score': 6.25}, {'connected_gene': 'GC10M087058', 'score': 0.77}, {'connected_gene': 'GC10M087034', 'score': 0.39}, {'connected_gene': 'GLUD1', 'score': 0.26}, {'connected_gene': 'GC10P086949', 'score': 0.15}]
chr10 GH10I087090 87090809 87096982 2.31 [{'connected_gene': 'FAM35A', 'score': 570.9}, {'connected_gene': 'GLUD1', 'score': 550.77}, {'connected_gene': 'NUTM2A-AS1', 'score': 36.57}, {'connected_gene': 'ENSG00000272631', 'score': 34.41}, {'connected_gene': 'WAPL', 'score': 24.98}, {'connected_gene': 'BMPR1A', 'score': 22.65}, {'connected_gene': 'CFL1P1', 'score': 20.56}, {'connected_gene': 'RPL11P3', 'score': 11.19}, {'connected_gene': 'ENSG00000227896', 'score': 10.93}, {'connected_gene': 'BMS1P3', 'score': 10.43}, {'connected_gene': 'ADIRF-AS1', 'score': 9.84}, {'connected_gene': 'OPN4', 'score': 7.62}, {'connected_gene': 'NUTM2A', 'score': 7.49}, {'connected_gene': 'GC10M087058', 'score': 0.29}]
chr10 GH10I087024 87024923 87026730 0.99 [{'connected_gene': 'ENSG00000271573', 'score': 550.77}, {'connected_gene': 'NUTM2D', 'score': 9.93}, {'connected_gene': 'PAPSS2', 'score': 4.41}, {'connected_gene': 'GLUD1', 'score': 4.38}, {'connected_gene': 'FAM25A', 'score': 0.44}, {'connected_gene': 'GC10P086949', 'score': 0.18}]
chr10 GH10I086752 86752404 86759776 2.75 [{'connected_gene': 'ENSG00000272631', 'score': 578.45}, {'connected_gene': 'BMPR1A', 'score': 561.74}, {'connected_gene': 'GC10M086750', 'score': 550.77}, {'connected_gene': 'WAPL', 'score': 33.14}, {'connected_gene': 'NUTM2A-AS1', 'score': 22.45}, {'connected_gene': 'ENSG00000227896', 'score': 20.64}, {'connected_gene': 'FAM35A', 'score': 11.35}, {'connected_gene': 'GLUD1', 'score': 2.07}]
chr10 GH10I087104 87104879 87106212 0.2 [{'connected_gene': 'ENSG00000237280', 'score': 0.44}, {'connected_gene': 'FAM35A', 'score': 0.39}, {'connected_gene': 'GLUD1', 'score': 0.39}]
chr10 GH10I087053 87053264 87053393 0.31 [{'connected_gene': 'GC10M087058', 'score': 0.44}, {'connected_gene': 'GC10M087034', 'score': 0.44}, {'connected_gene': 'GLUD1', 'score': 0.26}, {'connected_gene': 'GC10P086949', 'score': 0.15}]
chr10 GH10I086519 86519521 86523112 1.99 [{'connected_gene': 'GC10M086520', 'score': 550.77}, {'connected_gene': 'ENSG00000227896', 'score': 550.77}, {'connected_gene': 'GC10M086521', 'score': 550.77}, {'connected_gene': 'WAPL', 'score': 550.77}, {'connected_gene': 'LDB3', 'score': 6.41}, {'connected_gene': 'GLUD1', 'score': 4.53}, {'connected_gene': 'GC10P086518', 'score': 0.77}, {'connected_gene': 'GC10P086490', 'score': 0.29}]

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