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
ENST00000332142 [[163227916, 163228605], [163229979, 163230172], [163236362, 163236531], [163241197, 163241449], [163250898, 163250995], [163253249, 163253455], [163256698, 163256951], [163279845, 163280045], [163291707, 163292107], [163302527, 163302953], [163360952, 163361167], [163369163, 163369184], [163374239, 163374668], [163393434, 163393590], [163693046, 163693277], [163694952, 163695128]] [[163228338, 163228605], [163229979, 163230172], [163236362, 163236531], [163241197, 163241449], [163250898, 163250995], [163253249, 163253455], [163256698, 163256951], [163279845, 163280045], [163291707, 163292107], [163302527, 163302953], [163360952, 163361167], [163369163, 163369184], [163374239, 163374668], [163393434, 163393590], [163693046, 163693277], [163694952, 163695028]]
ENST00000328032 [[163279756, 163280045], [163291707, 163292107], [163302527, 163302953], [163360952, 163361167], [163374239, 163374668], [163393434, 163393590], [163693046, 163693277], [163694952, 163695240]] [[163279779, 163280045], [163291707, 163292107], [163302527, 163302953], [163360952, 163361167], [163374239, 163374668], [163393434, 163393590], [163693046, 163693277], [163694952, 163695028]]
ENST00000477019 [[163358494, 163358804], [163360952, 163361167], [163374239, 163374668], [163384432, 163384597], [163384693, 163384870]] None
NM_033272 [[163227916, 163228605], [163229979, 163230172], [163236362, 163236531], [163241197, 163241449], [163250898, 163250995], [163253249, 163253455], [163256698, 163256951], [163279845, 163280045], [163291707, 163292107], [163302527, 163302953], [163360952, 163361167], [163369163, 163369184], [163374239, 163374668], [163393434, 163393590], [163693046, 163693277], [163694952, 163695257]] [[163228338, 163228605], [163229979, 163230172], [163236362, 163236531], [163241197, 163241449], [163250898, 163250995], [163253249, 163253455], [163256698, 163256951], [163279845, 163280045], [163291707, 163292107], [163302527, 163302953], [163360952, 163361167], [163369163, 163369184], [163374239, 163374668], [163393434, 163393590], [163693046, 163693277], [163694952, 163695028]]
NM_173162 [[163279756, 163280045], [163291707, 163292107], [163302527, 163302953], [163360952, 163361167], [163374239, 163374668], [163393434, 163393590], [163693046, 163693277], [163694952, 163695257]] [[163279779, 163280045], [163291707, 163292107], [163302527, 163302953], [163360952, 163361167], [163374239, 163374668], [163393434, 163393590], [163693046, 163693277], [163694952, 163695028]]
Promoter
Chrom Start End Description
chr2 163695139 163695158 CAGE_peak_3_at_KCNH7_5end
chr2 163695238 163695258 CAGE_peak_2_at_KCNH7_5end
chr2 163695260 163695301 CAGE_peak_1_at_KCNH7_5end
chr2 163695483 163695498 CAGE_peak_5_at_KCNH7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I162621 162621299 162621650 0.26 [{'connected_gene': 'KCNH7', 'score': 2.02}, {'connected_gene': 'GC02P162561', 'score': 0.21}, {'connected_gene': 'LOC101929570', 'score': 0.11}]
chr2 GH02I162722 162722464 162722833 0.34 [{'connected_gene': 'KCNH7', 'score': 6.05}, {'connected_gene': 'LOC101929570', 'score': 0.25}, {'connected_gene': 'GC02P162561', 'score': 0.1}]
chr2 GH02I162821 162821123 162822011 0.59 [{'connected_gene': 'KCNH7', 'score': 0.37}, {'connected_gene': 'LOC101929570', 'score': 0.23}]
chr2 GH02I162838 162838551 162838700 0.88 [{'connected_gene': 'KCNH7', 'score': 550.77}, {'connected_gene': 'LOC101929570', 'score': 0.2}]
chr2 GH02I162839 162838732 162838791 0.68 [{'connected_gene': 'KCNH7', 'score': 550.77}, {'connected_gene': 'GC02P163000', 'score': 0.1}]
chr2 GH02I162366 162366451 162366567 0.22 [{'connected_gene': 'GCA', 'score': 4.6}, {'connected_gene': 'KCNH7', 'score': 1.52}, {'connected_gene': 'GC02P162329', 'score': 0.28}, {'connected_gene': 'RNA5SP109', 'score': 0.12}]
chr2 GH02I162478 162478971 162479128 0.33 [{'connected_gene': 'GCA', 'score': 5.85}, {'connected_gene': 'RNA5SP109', 'score': 0.37}, {'connected_gene': 'GC02P162329', 'score': 0.11}, {'connected_gene': 'KCNH7', 'score': 0.05}]
chr2 GH02I162732 162732571 162733260 0.56 [{'connected_gene': 'LOC101929570', 'score': 0.28}, {'connected_gene': 'KCNH7', 'score': 0.14}, {'connected_gene': 'GC02P162561', 'score': 0.09}]
chr2 GH02I162711 162711353 162712770 0.59 [{'connected_gene': 'LOC101929570', 'score': 0.22}, {'connected_gene': 'KCNH7', 'score': 0.13}, {'connected_gene': 'GC02P162561', 'score': 0.1}]
chr2 GH02I162475 162475299 162476225 0.49 [{'connected_gene': 'RNA5SP109', 'score': 0.34}, {'connected_gene': 'GC02P162329', 'score': 0.11}, {'connected_gene': 'KCNH7', 'score': 0.05}]
chr2 GH02I162928 162928401 162928660 0.58 [{'connected_gene': 'GC02P163000', 'score': 0.19}, {'connected_gene': 'KCNH7', 'score': 0.17}]
chr2 GH02I162924 162924912 162927937 0.46 [{'connected_gene': 'GC02P163000', 'score': 0.19}, {'connected_gene': 'KCNH7', 'score': 0.17}]
chr2 GH02I162579 162579038 162581037 0.93 [{'connected_gene': 'GC02P162561', 'score': 0.37}, {'connected_gene': 'LOC101929570', 'score': 0.09}, {'connected_gene': 'KCNH7', 'score': 0.07}]
chr2 GH02I162582 162582016 162583200 0.97 [{'connected_gene': 'GC02P162561', 'score': 0.34}, {'connected_gene': 'LOC101929570', 'score': 0.09}, {'connected_gene': 'KCNH7', 'score': 0.07}]
chr2 GH02I162574 162574004 162575818 0.9 [{'connected_gene': 'GC02P162561', 'score': 0.39}, {'connected_gene': 'LOC101929570', 'score': 0.08}, {'connected_gene': 'KCNH7', 'score': 0.07}]