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
ENST00000455611 [[146031989, 146032280], [146049097, 146049276], [146061102, 146061143], [146062530, 146062791], [146063347, 146063486], [146064516, 146064597], [146065097, 146065153], [146065462, 146065586], [146067418, 146067581], [146071664, 146071851], [146071953, 146072057], [146073692, 146073787], [146076562, 146076627], [146076720, 146076838], [146077087, 146077148], [146080654, 146080787], [146083791, 146083873], [146085305, 146085378], [146086302, 146086349], [146092821, 146092872], [146095812, 146095896], [146100730, 146100793]] None
ENST00000454497 [[146054800, 146059802], [146061102, 146061143], [146062530, 146062791], [146063347, 146063486], [146064516, 146064597], [146065097, 146065153], [146065462, 146065586], [146067418, 146067581], [146071664, 146071851], [146071953, 146072057], [146073692, 146073787], [146076562, 146076627], [146076720, 146076838], [146077087, 146077148], [146080654, 146080787], [146083791, 146083873], [146085305, 146085378], [146086302, 146086349], [146092821, 146092872], [146095812, 146095896], [146100730, 146100832]] [[146058581, 146059802], [146061102, 146061143], [146062530, 146062791], [146063347, 146063486], [146064516, 146064597], [146065097, 146065153], [146065462, 146065586], [146067418, 146067581], [146071664, 146071851], [146071953, 146072057], [146073692, 146073787], [146076562, 146076627], [146076720, 146076838], [146077087, 146077148], [146080654, 146080787], [146083791, 146083873], [146085305, 146085378], [146086302, 146086349], [146092821, 146092872], [146095812, 146095860]]
ENST00000447906 [[146058285, 146059802], [146061102, 146061143], [146062530, 146062791], [146063347, 146063486], [146064516, 146064597], [146065097, 146065153], [146065462, 146065586], [146067418, 146067581], [146071664, 146071851], [146071953, 146072057], [146073692, 146073787], [146076562, 146076627], [146076720, 146076838], [146077087, 146077148], [146080654, 146080787], [146083791, 146083873], [146085305, 146085378], [146086302, 146086349], [146092821, 146092872], [146095812, 146095896], [146100966, 146101313]] [[146058581, 146059802], [146061102, 146061143], [146062530, 146062791], [146063347, 146063486], [146064516, 146064597], [146065097, 146065153], [146065462, 146065586], [146067418, 146067581], [146071664, 146071851], [146071953, 146072057], [146073692, 146073787], [146076562, 146076627], [146076720, 146076838], [146077087, 146077148], [146080654, 146080787], [146083791, 146083873], [146085305, 146085378], [146086302, 146086349], [146092821, 146092872], [146095812, 146095896], [146100966, 146101125]]
ENST00000509517 [[146067245, 146067581], [146071664, 146071851], [146071953, 146072047]] None
ENST00000514973 [[146067525, 146067581], [146071664, 146071851], [146071953, 146072057], [146073692, 146073787], [146076562, 146076627], [146076720, 146076835], [146077087, 146077148], [146080654, 146080787], [146083791, 146083873], [146085305, 146085378], [146086302, 146086349], [146092821, 146092872], [146095812, 146095896], [146100730, 146100832]] [[146067525, 146067581], [146071664, 146071851], [146071953, 146072057], [146073692, 146073787], [146076562, 146076627], [146076720, 146076835], [146077087, 146077148], [146080654, 146080787], [146083791, 146083873], [146085305, 146085378], [146086302, 146086349], [146092821, 146092872], [146095812, 146095860]]
ENST00000505976 [[146076964, 146076990], [146077087, 146077148], [146080654, 146080787], [146083791, 146083873], [146085305, 146085378], [146086302, 146086349], [146092821, 146092872], [146095812, 146095896], [146100966, 146101080]] None
ENST00000509620 [[146080288, 146080787], [146083791, 146083873], [146085305, 146085378], [146086302, 146086349], [146092821, 146092872], [146095812, 146095896], [146099279, 146099307]] [[146080650, 146080787], [146083791, 146083873], [146085305, 146085378], [146086302, 146086349], [146092821, 146092872], [146095812, 146095860]]
ENST00000296579 [[146080288, 146080787], [146083791, 146083873], [146085305, 146085378], [146086302, 146086349], [146092821, 146092872], [146095812, 146095896], [146100730, 146100832]] [[146080650, 146080787], [146083791, 146083873], [146085305, 146085378], [146086302, 146086349], [146092821, 146092872], [146095812, 146095860]]
ENST00000504501 [[146080671, 146080787], [146083791, 146083873], [146085305, 146085378], [146086302, 146086349], [146092821, 146092872], [146095812, 146095896], [146099665, 146099722], [146100730, 146100763]] [[146080671, 146080787], [146083791, 146083873], [146085305, 146085378], [146086302, 146086349], [146092821, 146092872], [146095812, 146095860]]
ENST00000509985 [[146080671, 146080787], [146083791, 146083873], [146085305, 146085378], [146086343, 146086349], [146092821, 146092872], [146095812, 146095896], [146100730, 146100785]] None
ENST00000504331 [[146091920, 146092469], [146092821, 146092863]] None
NM_001102653 [[146054801, 146059802], [146061102, 146061143], [146062530, 146062791], [146063347, 146063486], [146064516, 146064597], [146065097, 146065153], [146065462, 146065586], [146067418, 146067581], [146071664, 146071851], [146071953, 146072057], [146073692, 146073787], [146076562, 146076627], [146076720, 146076838], [146077087, 146077148], [146080654, 146080787], [146083791, 146083873], [146085305, 146085378], [146086302, 146086349], [146092821, 146092872], [146095812, 146095896], [146100730, 146100832]] [[146058581, 146059802], [146061102, 146061143], [146062530, 146062791], [146063347, 146063486], [146064516, 146064597], [146065097, 146065153], [146065462, 146065586], [146067418, 146067581], [146071664, 146071851], [146071953, 146072057], [146073692, 146073787], [146076562, 146076627], [146076720, 146076838], [146077087, 146077148], [146080654, 146080787], [146083791, 146083873], [146085305, 146085378], [146086302, 146086349], [146092821, 146092872], [146095812, 146095860]]
NM_017493 [[146080288, 146080787], [146083791, 146083873], [146085305, 146085378], [146086302, 146086349], [146092821, 146092872], [146095812, 146095896]] [[146080650, 146080787], [146083791, 146083873], [146085305, 146085378], [146086302, 146086349], [146092821, 146092872], [146095812, 146095860]]
Promoter
Chrom Start End Description
chr4 146071958 146071961 CAGE_peak_15_at_OTUD4_5end
chr4 146101304 146101326 CAGE_peak_3_at_OTUD4_5end
chr4 146101332 146101350 CAGE_peak_5_at_OTUD4_5end
chr4 146101648 146101755 CAGE_peak_1_at_OTUD4_5end
chr4 146101767 146101783 CAGE_peak_4_at_OTUD4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I145769 145769601 145770200 0.64 [{'connected_gene': 'OTUD4', 'score': 21.31}, {'connected_gene': 'ENSG00000248356', 'score': 13.58}, {'connected_gene': 'SLC10A7', 'score': 12.19}, {'connected_gene': 'LSM6', 'score': 9.82}, {'connected_gene': 'GC04M145759', 'score': 0.44}, {'connected_gene': 'ENSG00000279481', 'score': 0.21}, {'connected_gene': 'C4orf51', 'score': 0.17}, {'connected_gene': 'ZNF827', 'score': 0.1}]
chr4 GH04I145812 145812255 145813860 0.97 [{'connected_gene': 'OTUD4', 'score': 29.87}, {'connected_gene': 'ENSG00000248356', 'score': 13.55}, {'connected_gene': 'SLC10A7', 'score': 12.19}, {'connected_gene': 'ANAPC10', 'score': 10.03}, {'connected_gene': 'LSM6', 'score': 9.83}, {'connected_gene': 'ENSG00000279481', 'score': 0.37}, {'connected_gene': 'GC04M145759', 'score': 0.23}, {'connected_gene': 'ZNF827', 'score': 0.13}]
chr4 GH04I145487 145487746 145488076 1 [{'connected_gene': 'OTUD4', 'score': 3.33}, {'connected_gene': 'SMAD1', 'score': 0.44}, {'connected_gene': 'SMAD1-AS2', 'score': 0.37}]
chr4 GH04I145175 145175643 145183385 2.47 [{'connected_gene': 'OTUD4', 'score': 551.96}, {'connected_gene': 'LOC105377463', 'score': 550.77}, {'connected_gene': 'ANAPC10', 'score': 11.83}, {'connected_gene': 'ABCE1', 'score': 9.89}, {'connected_gene': 'MMAA', 'score': 2.38}]
chr4 GH04I145130 145130191 145131800 0.69 [{'connected_gene': 'OTUD4', 'score': 11.53}, {'connected_gene': 'ANAPC10', 'score': 11.32}, {'connected_gene': 'ABCE1', 'score': 11.32}, {'connected_gene': 'ENSG00000238713', 'score': 0.37}, {'connected_gene': 'GC04M145151', 'score': 0.37}]
chr4 GH04I145132 145132069 145133232 0.7 [{'connected_gene': 'OTUD4', 'score': 11.53}, {'connected_gene': 'ANAPC10', 'score': 11.32}, {'connected_gene': 'ABCE1', 'score': 11.32}, {'connected_gene': 'ENSG00000238713', 'score': 0.37}, {'connected_gene': 'GC04M145151', 'score': 0.37}]
chr4 GH04I145103 145103106 145103162 0.24 [{'connected_gene': 'OTUD4', 'score': 10.99}, {'connected_gene': 'ANAPC10', 'score': 0.77}, {'connected_gene': 'ABCE1', 'score': 0.44}, {'connected_gene': 'ENSG00000238713', 'score': 0.25}, {'connected_gene': 'GC04M145151', 'score': 0.25}]
chr4 GH04I145124 145124997 145127053 0.46 [{'connected_gene': 'ANAPC10', 'score': 11.55}, {'connected_gene': 'ABCE1', 'score': 11.55}, {'connected_gene': 'OTUD4', 'score': 11.52}, {'connected_gene': 'ENSG00000238713', 'score': 0.34}, {'connected_gene': 'GC04M145151', 'score': 0.34}]
chr4 GH04I145096 145096387 145100407 2.27 [{'connected_gene': 'ANAPC10', 'score': 550.77}, {'connected_gene': 'ABCE1', 'score': 550.77}, {'connected_gene': 'ENSG00000248356', 'score': 11.79}, {'connected_gene': 'OTUD4', 'score': 10.98}]
chr4 GH04I145171 145171637 145172242 0.46 [{'connected_gene': 'ANAPC10', 'score': 10.81}, {'connected_gene': 'ABCE1', 'score': 10.81}, {'connected_gene': 'LOC105377463', 'score': 0.44}, {'connected_gene': 'OTUD4', 'score': 0.44}, {'connected_gene': 'GC04M145156', 'score': 0.37}]
chr4 GH04I145530 145530732 145534207 0.86 [{'connected_gene': 'SMAD1-AS2', 'score': 13.5}, {'connected_gene': 'SMAD1', 'score': 11.92}, {'connected_gene': 'OTUD4', 'score': 9.81}, {'connected_gene': 'MMAA', 'score': 4.43}, {'connected_gene': 'SMAD1-AS1', 'score': 0.37}, {'connected_gene': 'LOC285422', 'score': 0.22}]
chr4 GH04I144651 144651690 144658513 0.62 [{'connected_gene': 'ENSG00000248356', 'score': 11.39}, {'connected_gene': 'OTUD4', 'score': 10.34}, {'connected_gene': 'ANAPC10', 'score': 10.05}, {'connected_gene': 'RTN3P1', 'score': 5.6}, {'connected_gene': 'HHIP-AS1', 'score': 0.44}, {'connected_gene': 'HHIP', 'score': 0.44}, {'connected_gene': 'GYPA', 'score': 0.08}]
chr4 GH04I145152 145152991 145153978 0.31 [{'connected_gene': 'GC04M145156', 'score': 0.77}, {'connected_gene': 'ENSG00000238713', 'score': 0.77}, {'connected_gene': 'GC04M145151', 'score': 0.77}, {'connected_gene': 'OTUD4', 'score': 0.31}]

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