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
ENST00000297338 [[117858173, 117859930], [117861184, 117861268], [117862856, 117863006], [117864186, 117864335], [117864787, 117864947], [117866483, 117866707], [117868404, 117868527], [117868884, 117869010], [117869505, 117869712], [117870590, 117870697], [117874079, 117874179], [117875368, 117875498], [117878824, 117879000], [117886849, 117887105]] [[117859738, 117859930], [117861184, 117861268], [117862856, 117863006], [117864186, 117864335], [117864787, 117864947], [117866483, 117866707], [117868404, 117868527], [117868884, 117869010], [117869505, 117869712], [117870590, 117870697], [117874079, 117874179], [117875368, 117875498], [117878824, 117878968]]
ENST00000523986 [[117859143, 117859930], [117861184, 117861268], [117862856, 117864491]] [[117859738, 117859930], [117861184, 117861268], [117862856, 117862988]]
ENST00000517749 [[117859465, 117859930], [117861184, 117861722]] [[117859738, 117859930], [117861184, 117861202]]
ENST00000518055 [[117859572, 117859930], [117861184, 117861268], [117862856, 117863006], [117864186, 117864490]] [[117859738, 117859930], [117861184, 117861268], [117862856, 117863006], [117864186, 117864291]]
ENST00000520992 [[117869509, 117869712], [117870590, 117870697], [117874079, 117874179], [117875368, 117875498], [117878824, 117879000], [117886548, 117886663]] [[117869509, 117869712], [117870590, 117870697], [117874079, 117874179], [117875368, 117875498], [117878824, 117878968]]
ENST00000517485 [[117869517, 117869712], [117870590, 117870697], [117874079, 117874179], [117875368, 117875498], [117878824, 117879000], [117886601, 117886767]] [[117869517, 117869712], [117870590, 117870697], [117874079, 117874179], [117875368, 117875498], [117878824, 117878968]]
ENST00000523547 [[117869527, 117869712], [117870590, 117870697], [117874079, 117874179], [117875368, 117875498], [117878824, 117879000], [117886357, 117886567]] None
ENST00000519837 [[117874081, 117874179], [117875368, 117875498], [117878824, 117879000], [117886488, 117886599]] [[117874081, 117874179], [117875368, 117875498], [117878824, 117878968]]
ENST00000522699 [[117874092, 117874179], [117875368, 117875498], [117878824, 117879000], [117886444, 117886599]] [[117874092, 117874179], [117875368, 117875498], [117878824, 117878968]]
ENST00000519469 [[117875355, 117875498], [117878824, 117879230]] None
NM_006265 [[117858172, 117859930], [117861184, 117861268], [117862856, 117863006], [117864186, 117864335], [117864787, 117864947], [117866483, 117866707], [117868404, 117868527], [117868884, 117869010], [117869505, 117869712], [117870590, 117870697], [117874079, 117874179], [117875368, 117875498], [117878824, 117879000], [117886849, 117887105]] [[117859738, 117859930], [117861184, 117861268], [117862856, 117863006], [117864186, 117864335], [117864787, 117864947], [117866483, 117866707], [117868404, 117868527], [117868884, 117869010], [117869505, 117869712], [117870590, 117870697], [117874079, 117874179], [117875368, 117875498], [117878824, 117878968]]
Promoter
Chrom Start End Description
chr8 117878863 117878874 CAGE_peak_15_at_RAD21_5end
chr8 117878953 117878961 CAGE_peak_29_at_RAD21_5end
chr8 117879183 117879190 CAGE_peak_39_at_RAD21_5end
chr8 117879221 117879238 CAGE_peak_27_at_RAD21_5end
chr8 117879290 117879301 CAGE_peak_36_at_RAD21_5end
chr8 117879312 117879331 CAGE_peak_33_at_RAD21_5end
chr8 117886359 117886370 CAGE_peak_35_at_RAD21_5end
chr8 117886399 117886420 CAGE_peak_25_at_RAD21_5end
chr8 117886563 117886605 CAGE_peak_3_at_RAD21_5end
chr8 117886612 117886673 CAGE_peak_1_at_RAD21_5end
chr8 117886706 117886710 CAGE_peak_14_at_RAD21_5end
chr8 117886732 117886748 CAGE_peak_6_at_RAD21_5end
chr8 117886797 117886806 CAGE_peak_8_at_RAD21_5end
chr8 117886814 117886833 CAGE_peak_5_at_RAD21_5end
chr8 117886841 117886847 CAGE_peak_21_at_RAD21_5end
chr8 117886864 117886910 CAGE_peak_2_at_RAD21_5end
chr8 117887155 117887163 CAGE_peak_31_at_RAD21_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I116765 116765379 116768303 2.06 [{'connected_gene': 'UTP23', 'score': 565.0}, {'connected_gene': 'EIF3H', 'score': 562.72}, {'connected_gene': 'MED30', 'score': 10.37}, {'connected_gene': 'RAD21', 'score': 5.15}]
chr8 GH08I116837 116837842 116837931 0.63 [{'connected_gene': 'RAD21-AS1', 'score': 10.52}, {'connected_gene': 'RAD21', 'score': 10.52}, {'connected_gene': 'GC08P116801', 'score': 0.28}, {'connected_gene': 'UTP23', 'score': 0.19}]
chr8 GH08I116849 116849342 116849551 0.31 [{'connected_gene': 'RAD21-AS1', 'score': 12.01}, {'connected_gene': 'RAD21', 'score': 11.98}, {'connected_gene': 'GC08P116801', 'score': 0.25}, {'connected_gene': 'UTP23', 'score': 0.18}]
chr8 GH08I116843 116843791 116844572 0.43 [{'connected_gene': 'RAD21-AS1', 'score': 11.58}, {'connected_gene': 'RAD21', 'score': 11.58}, {'connected_gene': 'GC08P116801', 'score': 0.26}, {'connected_gene': 'UTP23', 'score': 0.18}]
chr8 GH08I116851 116851262 116851411 0.56 [{'connected_gene': 'RAD21-AS1', 'score': 0.34}, {'connected_gene': 'RAD21', 'score': 0.34}, {'connected_gene': 'GC08P116801', 'score': 0.25}]
chr8 GH08I116869 116869927 116875471 2.48 [{'connected_gene': 'RAD21', 'score': 564.65}, {'connected_gene': 'RAD21-AS1', 'score': 550.77}, {'connected_gene': 'MED30', 'score': 10.37}, {'connected_gene': 'UTP23', 'score': 8.34}, {'connected_gene': 'MIR3610', 'score': 0.77}, {'connected_gene': 'GC08P116801', 'score': 0.19}]
chr8 GH08I116900 116900608 116902397 0.76 [{'connected_gene': 'RAD21', 'score': 24.33}, {'connected_gene': 'RAD21-AS1', 'score': 11.43}, {'connected_gene': 'AARD', 'score': 10.89}, {'connected_gene': 'SLC30A8', 'score': 10.59}, {'connected_gene': 'PIR55072', 'score': 0.34}, {'connected_gene': 'GC08P116801', 'score': 0.15}]
chr8 GH08I116868 116868001 116868201 0.31 [{'connected_gene': 'RAD21', 'score': 6.8}, {'connected_gene': 'RAD21-AS1', 'score': 0.44}, {'connected_gene': 'GC08P116801', 'score': 0.2}]
chr8 GH08I116889 116889529 116891529 0.98 [{'connected_gene': 'RAD21', 'score': 13.55}, {'connected_gene': 'AARD', 'score': 11.26}, {'connected_gene': 'SLC30A8', 'score': 10.68}, {'connected_gene': 'PIR55072', 'score': 0.39}, {'connected_gene': 'GC08P116801', 'score': 0.17}]
chr8 GH08I116650 116650654 116653600 1.11 [{'connected_gene': 'RAD21', 'score': 1.24}, {'connected_gene': 'LOC105375713', 'score': 0.77}, {'connected_gene': 'UTP23', 'score': 0.14}, {'connected_gene': 'EIF3H', 'score': 0.14}]
chr8 GH08I116915 116915834 116917207 0.31 [{'connected_gene': 'AARD', 'score': 11.31}, {'connected_gene': 'SLC30A8', 'score': 10.69}, {'connected_gene': 'RAD21', 'score': 7.9}, {'connected_gene': 'PIR55072', 'score': 0.28}, {'connected_gene': 'GC08P116801', 'score': 0.14}]
chr8 GH08I117118 117118174 117118559 0.22 [{'connected_gene': 'SLC30A8', 'score': 16.28}, {'connected_gene': 'RAD21', 'score': 1.52}, {'connected_gene': 'LOC105375719', 'score': 0.39}, {'connected_gene': 'ENSG00000253622', 'score': 0.39}, {'connected_gene': 'LOC105375716', 'score': 0.05}]
chr8 GH08I116975 116975466 116975707 0.44 [{'connected_gene': 'SLC30A8', 'score': 11.14}, {'connected_gene': 'RAD21', 'score': 1.52}, {'connected_gene': 'PIR54682', 'score': 0.29}, {'connected_gene': 'GC08P116801', 'score': 0.09}]
chr8 GH08I116878 116878958 116879248 1 [{'connected_gene': 'PIR55072', 'score': 550.77}, {'connected_gene': 'RAD21', 'score': 7.19}, {'connected_gene': 'UTP23', 'score': 2.13}, {'connected_gene': 'GC08M116875', 'score': 0.77}, {'connected_gene': 'GC08P116801', 'score': 0.18}]
chr8 GH08I116879 116879733 116881536 0.49 [{'connected_gene': 'PIR55072', 'score': 550.77}, {'connected_gene': 'RAD21', 'score': 8.27}, {'connected_gene': 'AARD', 'score': 0.22}, {'connected_gene': 'GC08P116801', 'score': 0.18}]
chr8 GH08I116877 116877700 116877984 1 [{'connected_gene': 'GC08M116875', 'score': 550.77}, {'connected_gene': 'RAD21', 'score': 2.66}, {'connected_gene': 'PIR55072', 'score': 0.77}, {'connected_gene': 'GC08P116801', 'score': 0.18}]
chr8 GH08I116801 116801631 116803543 0.64 [{'connected_gene': 'GC08P116801', 'score': 550.77}, {'connected_gene': 'AARD', 'score': 11.24}, {'connected_gene': 'RAD21-AS1', 'score': 11.06}, {'connected_gene': 'RAD21', 'score': 11.06}, {'connected_gene': 'UTP23', 'score': 0.28}]
chr8 GH08I116802 116801182 116801331 0.43 [{'connected_gene': 'GC08P116801', 'score': 550.77}, {'connected_gene': 'AARD', 'score': 11.24}, {'connected_gene': 'RAD21-AS1', 'score': 11.06}, {'connected_gene': 'RAD21', 'score': 11.06}, {'connected_gene': 'UTP23', 'score': 0.29}, {'connected_gene': 'GC08P116769', 'score': 0.29}]