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
ENST00000220478 [[51973549, 51974034], [51974713, 51974766], [51975275, 51975321], [51975415, 51975631], [51980456, 51980599], [51981415, 51981565], [51984355, 51984533], [51988071, 51988188], [51991515, 51991599], [51993303, 51993441], [52005529, 52005610], [52011604, 52013223]] [[51973952, 51974034], [51974713, 51974766], [51975275, 51975321], [51975415, 51975631], [51980456, 51980599], [51981415, 51981565], [51984355, 51984533], [51988071, 51988188], [51991515, 51991599], [51993303, 51993441], [52005529, 52005610], [52011604, 52011723]]
ENST00000542355 [[51973688, 51974034], [51975275, 51975321], [51975415, 51975631], [51980456, 51980599], [51981415, 51981565], [51984355, 51984533], [51988071, 51988188], [51991515, 51991599], [51993303, 51993441], [52005529, 52005610], [52011604, 52012268]] [[51984361, 51984533], [51988071, 51988188], [51991515, 51991599], [51993303, 51993441], [52005529, 52005610], [52011604, 52011723]]
ENST00000558709 [[51973728, 51974034], [51975275, 51975321], [51975415, 51975631], [51981415, 51981565], [51984355, 51984533]] [[51984361, 51984533]]
NM_001165257 [[51973549, 51974034], [51975275, 51975321], [51975415, 51975631], [51980456, 51980599], [51981415, 51981565], [51984355, 51984533], [51988071, 51988188], [51991515, 51991599], [51993303, 51993441], [52005529, 52005610], [52011604, 52013223]] [[51984361, 51984533], [51988071, 51988188], [51991515, 51991599], [51993303, 51993441], [52005529, 52005610], [52011604, 52011723]]
NM_013243 [[51973549, 51974034], [51974713, 51974766], [51975275, 51975321], [51975415, 51975631], [51980456, 51980599], [51981415, 51981565], [51984355, 51984533], [51988071, 51988188], [51991515, 51991599], [51993303, 51993441], [52005529, 52005610], [52011604, 52013223]] [[51973952, 51974034], [51974713, 51974766], [51975275, 51975321], [51975415, 51975631], [51980456, 51980599], [51981415, 51981565], [51984355, 51984533], [51988071, 51988188], [51991515, 51991599], [51993303, 51993441], [52005529, 52005610], [52011604, 52011723]]
Promoter
Chrom Start End Description
chr15 51973635 51973646 CAGE_peak_4_at_SCG3_5end
chr15 51973680 51973707 CAGE_peak_1_at_SCG3_5end
chr15 51973708 51973725 CAGE_peak_3_at_SCG3_5end
chr15 51973877 51973934 CAGE_peak_2_at_SCG3_5end
chr15 51973935 51973946 CAGE_peak_5_at_SCG3_5end
chr15 51984388 51984400 CAGE_peak_6_at_SCG3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I051634 51634609 51634948 0.9 [{'connected_gene': 'TRPM7', 'score': 14.98}, {'connected_gene': 'ENSG00000260618', 'score': 12.57}, {'connected_gene': 'DCAF13P3', 'score': 11.67}, {'connected_gene': 'SCG3', 'score': 11.55}, {'connected_gene': 'ENSG00000259712', 'score': 11.17}, {'connected_gene': 'AP4E1', 'score': 10.65}, {'connected_gene': 'MYO5C', 'score': 10.0}, {'connected_gene': 'DMXL2', 'score': 8.79}, {'connected_gene': 'MAPK6', 'score': 3.35}, {'connected_gene': 'LOC105370816', 'score': 0.34}]
chr15 GH15I051706 51706115 51706593 0.63 [{'connected_gene': 'SCG3', 'score': 12.05}, {'connected_gene': 'LYSMD2', 'score': 11.37}, {'connected_gene': 'TMOD2', 'score': 11.37}, {'connected_gene': 'MAPK6', 'score': 4.96}, {'connected_gene': 'ENSG00000259296', 'score': 0.44}, {'connected_gene': 'ENSG00000259241', 'score': 0.39}]
chr15 GH15I051641 51641223 51642807 0.46 [{'connected_gene': 'SCG3', 'score': 24.12}, {'connected_gene': 'DMXL2', 'score': 20.33}, {'connected_gene': 'ENSG00000260618', 'score': 15.27}, {'connected_gene': 'TRPM7', 'score': 13.92}, {'connected_gene': 'AP4E1', 'score': 12.42}, {'connected_gene': 'LYSMD2', 'score': 11.59}, {'connected_gene': 'TMOD2', 'score': 11.59}, {'connected_gene': 'ENSG00000259712', 'score': 11.38}, {'connected_gene': 'LOC105370816', 'score': 0.39}]
chr15 GH15I051629 51629001 51630259 0.97 [{'connected_gene': 'SCG3', 'score': 24.06}, {'connected_gene': 'DMXL2', 'score': 4.63}, {'connected_gene': 'LOC105370816', 'score': 0.31}]
chr15 GH15I051681 51681184 51682003 1.7 [{'connected_gene': 'SCG3', 'score': 562.97}, {'connected_gene': 'ENSG00000259241', 'score': 0.39}]
chr15 GH15I051758 51758284 51760289 1.06 [{'connected_gene': 'LYSMD2', 'score': 22.89}, {'connected_gene': 'ENSG00000259712', 'score': 20.68}, {'connected_gene': 'ENSG00000260618', 'score': 16.1}, {'connected_gene': 'FAM214A', 'score': 11.9}, {'connected_gene': 'ENSG00000259935', 'score': 11.25}, {'connected_gene': 'SCG3', 'score': 11.01}, {'connected_gene': 'AP4E1', 'score': 10.46}, {'connected_gene': 'DMXL2', 'score': 4.18}, {'connected_gene': 'ENSG00000259377', 'score': 0.44}, {'connected_gene': 'TMOD2', 'score': 0.44}, {'connected_gene': 'GC15P051815', 'score': 0.22}]
chr15 GH15I051771 51771641 51774182 0.2 [{'connected_gene': 'LYSMD2', 'score': 48.21}, {'connected_gene': 'TMOD2', 'score': 19.31}, {'connected_gene': 'SCG3', 'score': 11.36}, {'connected_gene': 'TMOD3', 'score': 10.29}, {'connected_gene': 'DMXL2', 'score': 6.61}, {'connected_gene': 'ENSG00000259377', 'score': 0.34}, {'connected_gene': 'GC15P051815', 'score': 0.26}]
chr15 GH15I051646 51646824 51647713 1.37 [{'connected_gene': 'LYSMD2', 'score': 11.34}, {'connected_gene': 'TMOD2', 'score': 11.34}, {'connected_gene': 'SCG3', 'score': 10.91}, {'connected_gene': 'TMOD3', 'score': 5.89}, {'connected_gene': 'LOC105370816', 'score': 0.44}, {'connected_gene': 'DMXL2', 'score': 0.34}]
chr15 GH15I051725 51725783 51728473 1.1 [{'connected_gene': 'LYSMD2', 'score': 12.56}, {'connected_gene': 'TMOD2', 'score': 12.56}, {'connected_gene': 'SCG3', 'score': 11.44}, {'connected_gene': 'TMOD3', 'score': 8.15}, {'connected_gene': 'ENSG00000259296', 'score': 0.39}]
chr15 GH15I051650 51650024 51650193 0.73 [{'connected_gene': 'LYSMD2', 'score': 11.34}, {'connected_gene': 'TMOD2', 'score': 11.34}, {'connected_gene': 'SCG3', 'score': 10.91}, {'connected_gene': 'LOC105370816', 'score': 0.44}, {'connected_gene': 'DMXL2', 'score': 0.31}]
chr15 GH15I051643 51643424 51643573 0.59 [{'connected_gene': 'LYSMD2', 'score': 11.34}, {'connected_gene': 'TMOD2', 'score': 11.34}, {'connected_gene': 'SCG3', 'score': 10.9}, {'connected_gene': 'LOC105370816', 'score': 0.39}, {'connected_gene': 'DMXL2', 'score': 0.34}]
chr15 GH15I051776 51776284 51776433 0.94 [{'connected_gene': 'LYSMD2', 'score': 12.1}, {'connected_gene': 'TMOD2', 'score': 12.1}, {'connected_gene': 'SCG3', 'score': 11.35}, {'connected_gene': 'ENSG00000259377', 'score': 0.34}, {'connected_gene': 'GC15P051815', 'score': 0.28}]
chr15 GH15I051722 51722130 51722277 0.2 [{'connected_gene': 'LYSMD2', 'score': 11.81}, {'connected_gene': 'TMOD2', 'score': 11.81}, {'connected_gene': 'SCG3', 'score': 11.25}, {'connected_gene': 'ENSG00000259296', 'score': 0.44}]
chr15 GH15I051672 51672268 51672493 0.89 [{'connected_gene': 'LYSMD2', 'score': 10.97}, {'connected_gene': 'TMOD2', 'score': 10.97}, {'connected_gene': 'DMXL2', 'score': 7.54}, {'connected_gene': 'MAPK6', 'score': 4.68}, {'connected_gene': 'SCG3', 'score': 0.44}, {'connected_gene': 'LOC105370816', 'score': 0.37}]
chr15 GH15I051769 51769560 51771107 0.31 [{'connected_gene': 'LYSMD2', 'score': 36.47}, {'connected_gene': 'TMOD3', 'score': 18.1}, {'connected_gene': 'SCG3', 'score': 11.26}, {'connected_gene': 'ENSG00000259377', 'score': 0.37}, {'connected_gene': 'TMOD2', 'score': 0.37}, {'connected_gene': 'GC15P051815', 'score': 0.26}]
chr15 GH15I051718 51718034 51721528 0.89 [{'connected_gene': 'LYSMD2', 'score': 45.16}, {'connected_gene': 'SCG3', 'score': 12.11}, {'connected_gene': 'TMOD2', 'score': 11.79}, {'connected_gene': 'TMOD3', 'score': 7.33}, {'connected_gene': 'DMXL2', 'score': 5.38}, {'connected_gene': 'ENSG00000259296', 'score': 0.77}]
chr15 GH15I051764 51764100 51767422 0.31 [{'connected_gene': 'LYSMD2', 'score': 36.5}, {'connected_gene': 'SCG3', 'score': 11.0}, {'connected_gene': 'TMOD3', 'score': 8.02}, {'connected_gene': 'ENSG00000259377', 'score': 0.39}, {'connected_gene': 'TMOD2', 'score': 0.39}, {'connected_gene': 'GC15P051815', 'score': 0.25}]
chr15 GH15I051767 51767801 51768000 0.2 [{'connected_gene': 'LYSMD2', 'score': 24.74}, {'connected_gene': 'SCG3', 'score': 11.26}, {'connected_gene': 'TMOD3', 'score': 10.28}, {'connected_gene': 'ENSG00000259377', 'score': 0.37}, {'connected_gene': 'TMOD2', 'score': 0.37}, {'connected_gene': 'GC15P051815', 'score': 0.25}]
chr15 GH15I051728 51728916 51738836 2.72 [{'connected_gene': 'LYSMD2', 'score': 587.47}, {'connected_gene': 'DMXL2', 'score': 20.12}, {'connected_gene': 'SCG3', 'score': 11.21}, {'connected_gene': 'TMOD3', 'score': 8.19}, {'connected_gene': 'MAPK6', 'score': 7.03}, {'connected_gene': 'TMOD2', 'score': 6.45}, {'connected_gene': 'ENSG00000259296', 'score': 0.37}]
chr15 GH15I051558 51558364 51558727 0.59 [{'connected_gene': 'DMXL2', 'score': 20.35}, {'connected_gene': 'MAPK6', 'score': 12.49}, {'connected_gene': 'SCG3', 'score': 5.71}, {'connected_gene': 'TMOD3', 'score': 1.54}, {'connected_gene': 'GC15M057426', 'score': 0.77}, {'connected_gene': 'ENSG00000259668', 'score': 0.15}]
chr15 GH15I051620 51620238 51624665 2.57 [{'connected_gene': 'DMXL2', 'score': 601.11}, {'connected_gene': 'SCG3', 'score': 22.54}, {'connected_gene': 'LYSMD2', 'score': 12.4}, {'connected_gene': 'TRPM7', 'score': 10.88}, {'connected_gene': 'ENSG00000260618', 'score': 10.87}, {'connected_gene': 'MAPK6', 'score': 10.19}, {'connected_gene': 'AP4E1', 'score': 10.15}, {'connected_gene': 'TMOD2', 'score': 10.09}, {'connected_gene': 'TMOD3', 'score': 4.85}, {'connected_gene': 'ENSG00000259678', 'score': 4.58}, {'connected_gene': 'LOC105370816', 'score': 0.29}, {'connected_gene': 'GC15M057426', 'score': 0.22}]
chr15 GH15I051707 51707024 51709381 0.94 [{'connected_gene': 'DMXL2', 'score': 20.3}, {'connected_gene': 'SCG3', 'score': 18.94}, {'connected_gene': 'LYSMD2', 'score': 10.65}, {'connected_gene': 'TMOD2', 'score': 10.65}, {'connected_gene': 'MAPK6', 'score': 6.55}, {'connected_gene': 'TMOD3', 'score': 4.89}, {'connected_gene': 'ENSG00000259296', 'score': 0.44}, {'connected_gene': 'ENSG00000259241', 'score': 0.39}]
chr15 GH15I051493 51493478 51494693 0.78 [{'connected_gene': 'DMXL2', 'score': 23.44}, {'connected_gene': 'SCG3', 'score': 6.46}, {'connected_gene': 'ENSG00000259668', 'score': 0.28}, {'connected_gene': 'GC15M057426', 'score': 0.2}, {'connected_gene': 'ENSG00000259678', 'score': 0.18}]
chr15 GH15I052143 52143424 52145192 0.71 [{'connected_gene': 'GNB5', 'score': 19.43}, {'connected_gene': 'MAPK6', 'score': 10.71}, {'connected_gene': 'MIR1266', 'score': 9.7}, {'connected_gene': 'CERNA1', 'score': 8.61}, {'connected_gene': 'SCG3', 'score': 5.32}, {'connected_gene': 'GC15P052163', 'score': 0.37}, {'connected_gene': 'ENSG00000259709', 'score': 0.37}, {'connected_gene': 'GC15P052002', 'score': 0.11}]