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
ENST00000541626 [[31456879, 31457714], [31467139, 31467316], [31472236, 31472334], [31489042, 31491260]] [[31457487, 31457714], [31467139, 31467316], [31472236, 31472334], [31489042, 31489068]]
ENST00000322054 [[31457202, 31457714], [31467139, 31467316], [31472236, 31472334], [31483375, 31483788], [31484414, 31484579], [31489042, 31492313]] [[31457487, 31457714], [31467139, 31467316], [31472236, 31472334], [31483375, 31483788], [31484414, 31484579], [31489042, 31489570]]
NM_014600 [[31456879, 31457714], [31467139, 31467316], [31472236, 31472334], [31483375, 31483788], [31484414, 31484579], [31489042, 31491260]] [[31457487, 31457714], [31467139, 31467316], [31472236, 31472334], [31483375, 31483788], [31484414, 31484579], [31489042, 31489570]]
Promoter
Chrom Start End Description
chr2 31456854 31456865 CAGE_peak_4_at_EHD3_5end
chr2 31456874 31456883 CAGE_peak_5_at_EHD3_5end
chr2 31456947 31456963 CAGE_peak_3_at_EHD3_5end
chr2 31456969 31457006 CAGE_peak_2_at_EHD3_5end
chr2 31457010 31457032 CAGE_peak_1_at_EHD3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I031221 31221169 31222646 0.4 [{'connected_gene': 'GALNT14', 'score': 10.2}, {'connected_gene': 'ENSG00000234579', 'score': 9.62}, {'connected_gene': 'EHD3', 'score': 4.79}, {'connected_gene': 'RNA5SP90', 'score': 0.44}, {'connected_gene': 'CAPN14', 'score': 0.39}, {'connected_gene': 'GC02P031184', 'score': 0.28}]
chr2 GH02I031473 31473255 31477278 0.31 [{'connected_gene': 'XDH', 'score': 5.68}, {'connected_gene': 'EHD3', 'score': 4.53}, {'connected_gene': 'SLC30A6', 'score': 4.38}, {'connected_gene': 'GC02P031438', 'score': 0.28}, {'connected_gene': 'ENSG00000228563', 'score': 0.23}]
chr2 GH02I031411 31411689 31417000 1.42 [{'connected_gene': 'XDH', 'score': 559.43}, {'connected_gene': 'EHD3', 'score': 4.94}, {'connected_gene': 'GC02M031395', 'score': 0.44}]
chr2 GH02I031281 31281473 31283434 0.69 [{'connected_gene': 'EHD3', 'score': 23.77}, {'connected_gene': 'GALNT14', 'score': 14.42}, {'connected_gene': 'CAPN14', 'score': 12.15}, {'connected_gene': 'RPL21P70', 'score': 0.44}, {'connected_gene': 'PIR43580', 'score': 0.39}]
chr2 GH02I031283 31283635 31283784 0.63 [{'connected_gene': 'EHD3', 'score': 19.61}, {'connected_gene': 'GALNT14', 'score': 17.48}, {'connected_gene': 'CAPN14', 'score': 12.15}, {'connected_gene': 'RPL21P70', 'score': 0.44}, {'connected_gene': 'PIR43580', 'score': 0.37}]
chr2 GH02I031302 31302400 31304289 0.38 [{'connected_gene': 'EHD3', 'score': 6.19}, {'connected_gene': 'GALNT14', 'score': 4.28}, {'connected_gene': 'GC02P031291', 'score': 0.39}, {'connected_gene': 'GC02M031380', 'score': 0.18}, {'connected_gene': 'PIR52882', 'score': 0.18}]
chr2 GH02I031296 31296601 31298583 1.14 [{'connected_gene': 'EHD3', 'score': 8.48}, {'connected_gene': 'GALNT14', 'score': 4.28}, {'connected_gene': 'GC02P031291', 'score': 0.44}, {'connected_gene': 'GC02M031380', 'score': 0.18}, {'connected_gene': 'PIR52882', 'score': 0.18}]
chr2 GH02I031347 31347129 31348535 0.2 [{'connected_gene': 'EHD3', 'score': 11.55}, {'connected_gene': 'CAPN14', 'score': 11.55}, {'connected_gene': 'GALNT14', 'score': 9.6}, {'connected_gene': 'GC02M031380', 'score': 0.29}, {'connected_gene': 'PIR52882', 'score': 0.29}, {'connected_gene': 'GC02P031291', 'score': 0.22}, {'connected_gene': 'XDH', 'score': 0.2}]
chr2 GH02I031273 31273719 31275254 0.31 [{'connected_gene': 'EHD3', 'score': 24.81}, {'connected_gene': 'CAPN14', 'score': 12.8}, {'connected_gene': 'GALNT14', 'score': 10.24}, {'connected_gene': 'PIR43580', 'score': 0.44}, {'connected_gene': 'RPL21P70', 'score': 0.37}]
chr2 GH02I031286 31286275 31286424 0.51 [{'connected_gene': 'EHD3', 'score': 12.13}, {'connected_gene': 'CAPN14', 'score': 12.13}, {'connected_gene': 'GALNT14', 'score': 9.8}, {'connected_gene': 'RPL21P70', 'score': 0.77}, {'connected_gene': 'PIR43580', 'score': 0.37}]
chr2 GH02I031268 31268852 31272346 0.72 [{'connected_gene': 'EHD3', 'score': 23.97}, {'connected_gene': 'CAPN14', 'score': 12.81}, {'connected_gene': 'PIR43580', 'score': 0.77}, {'connected_gene': 'RPL21P70', 'score': 0.34}]
chr2 GH02I031312 31312386 31313248 0.64 [{'connected_gene': 'EHD3', 'score': 21.58}, {'connected_gene': 'CAPN14', 'score': 11.31}, {'connected_gene': 'GC02P031291', 'score': 0.34}, {'connected_gene': 'GC02M031380', 'score': 0.2}, {'connected_gene': 'PIR52882', 'score': 0.2}]
chr2 GH02I031323 31323952 31325000 1.11 [{'connected_gene': 'EHD3', 'score': 15.29}, {'connected_gene': 'CAPN14', 'score': 11.13}, {'connected_gene': 'GC02P031291', 'score': 0.29}, {'connected_gene': 'GC02M031380', 'score': 0.23}, {'connected_gene': 'PIR52882', 'score': 0.23}]
chr2 GH02I031233 31233355 31235932 2.08 [{'connected_gene': 'EHD3', 'score': 558.98}, {'connected_gene': 'CAPN14', 'score': 550.77}, {'connected_gene': 'PIR36197', 'score': 0.37}]
chr2 GH02I031254 31254812 31254981 0.4 [{'connected_gene': 'EHD3', 'score': 9.32}, {'connected_gene': 'PIR36197', 'score': 0.77}, {'connected_gene': 'PIR44065', 'score': 0.39}]
chr2 GH02I031255 31255535 31257089 0.89 [{'connected_gene': 'EHD3', 'score': 11.93}, {'connected_gene': 'PIR36197', 'score': 0.77}, {'connected_gene': 'PIR44065', 'score': 0.39}]
chr2 GH02I031317 31317234 31320873 1.31 [{'connected_gene': 'EHD3', 'score': 10.83}, {'connected_gene': 'ENSG00000234579', 'score': 9.11}, {'connected_gene': 'GC02P031291', 'score': 0.31}, {'connected_gene': 'GC02M031380', 'score': 0.21}, {'connected_gene': 'PIR52882', 'score': 0.21}]
chr2 GH02I031263 31263358 31264090 0.31 [{'connected_gene': 'EHD3', 'score': 7.14}, {'connected_gene': 'PIR44065', 'score': 0.77}, {'connected_gene': 'PIR36197', 'score': 0.39}]
chr2 GH02I031260 31260197 31262079 0.31 [{'connected_gene': 'EHD3', 'score': 9.24}, {'connected_gene': 'PIR36197', 'score': 0.44}, {'connected_gene': 'PIR44065', 'score': 0.44}]
chr2 GH02I031238 31238057 31242107 0.96 [{'connected_gene': 'EHD3', 'score': 11.49}, {'connected_gene': 'PIR36197', 'score': 0.39}]
chr2 GH02I031251 31251271 31254391 0.77 [{'connected_gene': 'PIR36197', 'score': 550.77}, {'connected_gene': 'EHD3', 'score': 12.72}, {'connected_gene': 'PIR44065', 'score': 0.39}]
chr2 GH02I031248 31248684 31249863 0.2 [{'connected_gene': 'PIR36197', 'score': 0.77}, {'connected_gene': 'EHD3', 'score': 0.37}]

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