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
ENST00000503335 [[126626522, 126626748], [126666982, 126667116], [126674811, 126674913], [126676221, 126676322], [126705601, 126705694], [126732223, 126732470], [126734367, 126734488], [126738237, 126738374], [126746080, 126746293], [126753329, 126753504], [126754811, 126754932], [126755735, 126755899], [126758361, 126758464], [126769054, 126769201], [126770378, 126770513], [126771052, 126771181], [126774130, 126774259], [126776430, 126776559], [126778689, 126778818], [126781148, 126781385], [126783248, 126783376], [126784790, 126784914], [126790257, 126790302], [126791092, 126791299], [126792819, 126796914]] [[126667000, 126667116], [126674811, 126674913], [126676221, 126676322], [126705601, 126705694], [126732223, 126732470], [126734367, 126734488], [126738237, 126738374], [126746080, 126746293], [126753329, 126753504], [126754811, 126754932], [126755735, 126755899], [126758361, 126758464], [126769054, 126769201], [126770378, 126770513], [126771052, 126771181], [126774130, 126774259], [126776430, 126776559], [126778689, 126778818], [126781148, 126781385], [126783248, 126783376], [126784790, 126784914], [126790257, 126790302], [126791092, 126791299], [126792819, 126793010]]
ENST00000508365 [[126626537, 126626748], [126666982, 126667116], [126674811, 126674913], [126676221, 126676322], [126705601, 126705694], [126732223, 126732470], [126734367, 126734488], [126738237, 126738374], [126746080, 126746293], [126753329, 126753504], [126754811, 126754932], [126755735, 126755899], [126758361, 126758464], [126760030, 126760473]] [[126667000, 126667116], [126674811, 126674913], [126676221, 126676322], [126705601, 126705694], [126732223, 126732470], [126734367, 126734488], [126738237, 126738374], [126746080, 126746293], [126753329, 126753504], [126754811, 126754932], [126755735, 126755899], [126758361, 126758464], [126760030, 126760041]]
ENST00000418761 [[126626538, 126626748], [126635687, 126635738], [126666982, 126667116], [126674811, 126674913], [126676221, 126676322], [126705601, 126705694], [126732223, 126732470], [126734367, 126734488], [126738237, 126738374], [126746080, 126746293], [126753329, 126753504], [126754811, 126754932], [126755735, 126755899], [126758361, 126758464], [126760030, 126760296]] [[126667000, 126667116], [126674811, 126674913], [126676221, 126676322], [126705601, 126705694], [126732223, 126732470], [126734367, 126734488], [126738237, 126738374], [126746080, 126746293], [126753329, 126753504], [126754811, 126754932], [126755735, 126755899], [126758361, 126758464], [126760030, 126760041]]
ENST00000274473 [[126626550, 126626748], [126635687, 126635738], [126666982, 126667116], [126674811, 126674913], [126676221, 126676322], [126705601, 126705694], [126732223, 126732470], [126734367, 126734488], [126738237, 126738374], [126746080, 126746293], [126753329, 126753504], [126754811, 126754932], [126755735, 126755899], [126758361, 126758464], [126769054, 126769201], [126770378, 126770513], [126771052, 126771181], [126774130, 126774259], [126776430, 126776559], [126778689, 126778818], [126781148, 126781385], [126783248, 126783376], [126784790, 126784914], [126790257, 126790302], [126791092, 126791299], [126792819, 126796914]] [[126667000, 126667116], [126674811, 126674913], [126676221, 126676322], [126705601, 126705694], [126732223, 126732470], [126734367, 126734488], [126738237, 126738374], [126746080, 126746293], [126753329, 126753504], [126754811, 126754932], [126755735, 126755899], [126758361, 126758464], [126769054, 126769201], [126770378, 126770513], [126771052, 126771181], [126774130, 126774259], [126776430, 126776559], [126778689, 126778818], [126781148, 126781385], [126783248, 126783376], [126784790, 126784914], [126790257, 126790302], [126791092, 126791299], [126792819, 126793010]]
ENST00000515002 [[126745283, 126745580], [126746080, 126746293], [126753329, 126753361]] None
ENST00000506709 [[126758383, 126758464], [126770378, 126770513], [126771052, 126771181], [126774130, 126774259], [126776430, 126776539]] None
ENST00000510513 [[126780104, 126780479], [126781148, 126781236]] None
ENST00000510828 [[126780943, 126781081], [126781296, 126781385], [126783248, 126783376], [126784790, 126784914], [126790257, 126790302], [126791092, 126791254]] None
ENST00000507158 [[126781168, 126781385], [126783248, 126783376], [126784790, 126784894]] None
ENST00000515622 [[126783319, 126783376], [126784790, 126784914], [126790257, 126790302], [126791092, 126791299], [126801297, 126801429]] None
NM_001308121 [[126626455, 126626748], [126666982, 126667116], [126674811, 126674913], [126676221, 126676322], [126705601, 126705694], [126732223, 126732470], [126734367, 126734488], [126738237, 126738374], [126746080, 126746293], [126753329, 126753504], [126754811, 126754932], [126755735, 126755899], [126758361, 126758464], [126760030, 126760473]] [[126667000, 126667116], [126674811, 126674913], [126676221, 126676322], [126705601, 126705694], [126732223, 126732470], [126734367, 126734488], [126738237, 126738374], [126746080, 126746293], [126753329, 126753504], [126754811, 126754932], [126755735, 126755899], [126758361, 126758464], [126760030, 126760041]]
NM_001308119 [[126626455, 126626748], [126635687, 126635738], [126666982, 126667116], [126674811, 126674913], [126676221, 126676322], [126705601, 126705694], [126732223, 126732470], [126734367, 126734488], [126738237, 126738374], [126746080, 126746293], [126753329, 126753504], [126754811, 126754932], [126755735, 126755899], [126758361, 126758464], [126760030, 126760473]] [[126667000, 126667116], [126674811, 126674913], [126676221, 126676322], [126705601, 126705694], [126732223, 126732470], [126734367, 126734488], [126738237, 126738374], [126746080, 126746293], [126753329, 126753504], [126754811, 126754932], [126755735, 126755899], [126758361, 126758464], [126760030, 126760041]]
NM_001256545 [[126626455, 126626748], [126666982, 126667116], [126674811, 126674913], [126676221, 126676322], [126705601, 126705694], [126732223, 126732470], [126734367, 126734488], [126738237, 126738374], [126746080, 126746293], [126753329, 126753504], [126754811, 126754932], [126755735, 126755899], [126758361, 126758464], [126769054, 126769201], [126770378, 126770513], [126771052, 126771181], [126774130, 126774259], [126776430, 126776559], [126778689, 126778818], [126781148, 126781385], [126783248, 126783376], [126784790, 126784914], [126790257, 126790302], [126791092, 126791299], [126792819, 126796914]] [[126667000, 126667116], [126674811, 126674913], [126676221, 126676322], [126705601, 126705694], [126732223, 126732470], [126734367, 126734488], [126738237, 126738374], [126746080, 126746293], [126753329, 126753504], [126754811, 126754932], [126755735, 126755899], [126758361, 126758464], [126769054, 126769201], [126770378, 126770513], [126771052, 126771181], [126774130, 126774259], [126776430, 126776559], [126778689, 126778818], [126781148, 126781385], [126783248, 126783376], [126784790, 126784914], [126790257, 126790302], [126791092, 126791299], [126792819, 126793010]]
NM_032446 [[126626455, 126626748], [126635687, 126635738], [126666982, 126667116], [126674811, 126674913], [126676221, 126676322], [126705601, 126705694], [126732223, 126732470], [126734367, 126734488], [126738237, 126738374], [126746080, 126746293], [126753329, 126753504], [126754811, 126754932], [126755735, 126755899], [126758361, 126758464], [126769054, 126769201], [126770378, 126770513], [126771052, 126771181], [126774130, 126774259], [126776430, 126776559], [126778689, 126778818], [126781148, 126781385], [126783248, 126783376], [126784790, 126784914], [126790257, 126790302], [126791092, 126791299], [126792819, 126796914]] [[126667000, 126667116], [126674811, 126674913], [126676221, 126676322], [126705601, 126705694], [126732223, 126732470], [126734367, 126734488], [126738237, 126738374], [126746080, 126746293], [126753329, 126753504], [126754811, 126754932], [126755735, 126755899], [126758361, 126758464], [126769054, 126769201], [126770378, 126770513], [126771052, 126771181], [126774130, 126774259], [126776430, 126776559], [126778689, 126778818], [126781148, 126781385], [126783248, 126783376], [126784790, 126784914], [126790257, 126790302], [126791092, 126791299], [126792819, 126793010]]
Promoter
Chrom Start End Description
chr5 126564982 126565010 CAGE_peak_3_at_MEGF10_5end
chr5 126626372 126626383 CAGE_peak_6_at_MEGF10_5end
chr5 126626387 126626409 CAGE_peak_4_at_MEGF10_5end
chr5 126626450 126626464 CAGE_peak_5_at_MEGF10_5end
chr5 126626477 126626497 CAGE_peak_2_at_MEGF10_5end
chr5 126626498 126626543 CAGE_peak_1_at_MEGF10_5end
chr5 126781215 126781226 CAGE_peak_12_at_MEGF10_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I127298 127298748 127298927 0.42 [{'connected_gene': 'MEGF10', 'score': 15.95}, {'connected_gene': 'CTXN3', 'score': 2.54}, {'connected_gene': 'LOC105379199', 'score': 0.44}, {'connected_gene': 'ENSG00000249577', 'score': 0.1}]
chr5 GH05I127403 127403020 127403257 0.22 [{'connected_gene': 'MEGF10', 'score': 2.08}, {'connected_gene': 'ENSG00000249577', 'score': 0.21}, {'connected_gene': 'LOC105379199', 'score': 0.14}]
chr5 GH05I127650 127650222 127650529 0.44 [{'connected_gene': 'CTXN3', 'score': 564.16}, {'connected_gene': 'MEGF10', 'score': 2.28}, {'connected_gene': 'LOC105379164', 'score': 0.39}]
chr5 GH05I127357 127357695 127359709 0.54 [{'connected_gene': 'PRRC1', 'score': 15.53}, {'connected_gene': 'PHAX', 'score': 10.5}, {'connected_gene': 'MARCH3', 'score': 7.51}, {'connected_gene': 'LOC105379199', 'score': 0.2}, {'connected_gene': 'ENSG00000249577', 'score': 0.14}, {'connected_gene': 'MEGF10', 'score': 0.13}]
chr5 GH05I127307 127307173 127308553 0.66 [{'connected_gene': 'MARCH3', 'score': 13.82}, {'connected_gene': 'LOC105379199', 'score': 0.37}, {'connected_gene': 'MEGF10', 'score': 0.18}, {'connected_gene': 'ENSG00000249577', 'score': 0.1}]
chr5 GH05I127310 127310519 127313144 0.72 [{'connected_gene': 'MARCH3', 'score': 13.51}, {'connected_gene': 'LOC105379199', 'score': 0.34}, {'connected_gene': 'MEGF10', 'score': 0.18}, {'connected_gene': 'ENSG00000249577', 'score': 0.1}]
chr5 GH05I127351 127351049 127352036 0.2 [{'connected_gene': 'MARCH3', 'score': 16.13}, {'connected_gene': 'LOC105379199', 'score': 0.21}, {'connected_gene': 'ENSG00000249577', 'score': 0.14}, {'connected_gene': 'MEGF10', 'score': 0.13}]
chr5 GH05I127320 127320047 127321165 0.68 [{'connected_gene': 'MARCH3', 'score': 7.0}, {'connected_gene': 'LOC105379199', 'score': 0.31}, {'connected_gene': 'MEGF10', 'score': 0.16}, {'connected_gene': 'ENSG00000249577', 'score': 0.11}]
chr5 GH05I127304 127304948 127306923 0.2 [{'connected_gene': 'MARCH3', 'score': 23.94}, {'connected_gene': 'LOC105379199', 'score': 0.39}, {'connected_gene': 'MEGF10', 'score': 0.18}, {'connected_gene': 'ENSG00000249577', 'score': 0.1}]
chr5 GH05I127308 127308766 127309875 0.31 [{'connected_gene': 'MARCH3', 'score': 14.03}, {'connected_gene': 'LOC105379199', 'score': 0.37}, {'connected_gene': 'MEGF10', 'score': 0.18}, {'connected_gene': 'ENSG00000249577', 'score': 0.1}]
chr5 GH05I127290 127290000 127292233 2.07 [{'connected_gene': 'LOC105379199', 'score': 550.77}, {'connected_gene': 'MEGF10', 'score': 550.21}, {'connected_gene': 'PRRC1', 'score': 13.04}, {'connected_gene': 'MARCH3', 'score': 11.47}, {'connected_gene': 'LOC105379198', 'score': 0.21}]
chr5 GH05I127302 127302227 127303255 0.2 [{'connected_gene': 'LOC105379199', 'score': 0.39}, {'connected_gene': 'MEGF10', 'score': 0.19}, {'connected_gene': 'ENSG00000249577', 'score': 0.1}]
chr5 GH05I127228 127228801 127230200 0.89 [{'connected_gene': 'LOC105379198', 'score': 550.77}, {'connected_gene': 'MEGF10', 'score': 550.77}, {'connected_gene': 'MARCH3', 'score': 10.6}]
chr5 GH05I127257 127257029 127257178 0.31 [{'connected_gene': 'LOC105379198', 'score': 0.31}, {'connected_gene': 'MEGF10', 'score': 0.31}, {'connected_gene': 'LOC105379199', 'score': 0.29}]
chr5 GH05I127410 127410303 127411951 0.56 [{'connected_gene': 'ENSG00000271766', 'score': 11.45}, {'connected_gene': 'MARCH3', 'score': 9.7}, {'connected_gene': 'ENSG00000249577', 'score': 0.23}, {'connected_gene': 'LOC105379199', 'score': 0.13}, {'connected_gene': 'MEGF10', 'score': 0.09}]
chr5 GH05I127401 127401449 127401598 0.2 [{'connected_gene': 'ENSG00000271766', 'score': 7.17}, {'connected_gene': 'ENSG00000249577', 'score': 0.21}, {'connected_gene': 'LOC105379199', 'score': 0.14}, {'connected_gene': 'MEGF10', 'score': 0.09}]
chr5 GH05I127406 127406392 127406990 0.31 [{'connected_gene': 'ENSG00000249577', 'score': 0.22}, {'connected_gene': 'LOC105379199', 'score': 0.13}, {'connected_gene': 'MEGF10', 'score': 0.1}]
chr5 GH05I127447 127447909 127448058 0.38 [{'connected_gene': 'ENSG00000249577', 'score': 0.37}, {'connected_gene': 'LOC105379199', 'score': 0.1}, {'connected_gene': 'MEGF10', 'score': 0.08}]
chr5 GH05I127428 127428357 127429200 0.2 [{'connected_gene': 'ENSG00000249577', 'score': 0.28}, {'connected_gene': 'LOC105379199', 'score': 0.12}, {'connected_gene': 'MEGF10', 'score': 0.08}]
chr5 GH05I127446 127446652 127446917 0.22 [{'connected_gene': 'ENSG00000249577', 'score': 0.37}, {'connected_gene': 'LOC105379199', 'score': 0.1}, {'connected_gene': 'MEGF10', 'score': 0.08}]
chr5 GH05I127369 127369074 127372218 0.72 [{'connected_gene': 'ENSG00000271766', 'score': 7.37}, {'connected_gene': 'LOC105379199', 'score': 0.18}, {'connected_gene': 'ENSG00000249577', 'score': 0.15}, {'connected_gene': 'MEGF10', 'score': 0.11}]