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
ENST00000336787 [[55495801, 55497903], [55516086, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527154], [55562362, 55562482], [55581913, 55582001]] [[55497704, 55497903], [55516086, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527132]]
ENST00000563262 [[55520863, 55520910], [55522598, 55522684], [55526979, 55527154], [55530600, 55530689], [55606236, 55606358], [55611128, 55611311]] [[55520863, 55520910], [55522598, 55522684], [55526979, 55527132]]
ENST00000567639 [[55530315, 55530689], [55562362, 55562482], [55581913, 55582011]] None
ENST00000565776 [[55561991, 55562482], [55581913, 55581989]] None
ENST00000396307 [[55495163, 55497903], [55516086, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527154], [55562362, 55562592]] [[55497704, 55497903], [55516086, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527132]]
ENST00000564609 [[55497546, 55497903], [55516086, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527154], [55530600, 55530689], [55562362, 55562484]] [[55497704, 55497903], [55516086, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527132]]
ENST00000569493 [[55497550, 55497903], [55516086, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527154], [55562362, 55562482], [55563056, 55563107]] [[55497704, 55497903], [55516086, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527132]]
ENST00000566877 [[55497813, 55497903], [55516086, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527154], [55541149, 55541233]] [[55497813, 55497903], [55516086, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527132]]
ENST00000567380 [[55516113, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527154], [55562362, 55562482], [55562953, 55563072]] [[55516113, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527132]]
ENST00000565972 [[55516145, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527154], [55529513, 55529640], [55530600, 55530689], [55562362, 55562482], [55563056, 55563099]] [[55516145, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527132]]
ENST00000568803 [[55522622, 55522684], [55526979, 55527154], [55552118, 55552221], [55562362, 55562454]] [[55522622, 55522684], [55526979, 55527132]]
ENST00000561545 [[55582085, 55582594], [55606217, 55606358], [55611128, 55611308]] None
NM_183235 [[55495163, 55497903], [55516086, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527154], [55562362, 55562482], [55581913, 55582013]] [[55497704, 55497903], [55516086, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527132]]
NM_183234 [[55495163, 55497903], [55516086, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527154], [55530600, 55530689], [55562362, 55562484]] [[55497704, 55497903], [55516086, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527132]]
NM_004580 [[55495163, 55497903], [55516086, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527154], [55562362, 55562592]] [[55497704, 55497903], [55516086, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527132]]
NM_183236 [[55495163, 55497903], [55516086, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527154], [55562362, 55562482], [55563056, 55563107]] [[55497704, 55497903], [55516086, 55516210], [55520806, 55520910], [55522598, 55522684], [55526979, 55527132]]
Promoter
Chrom Start End Description
chr15 55562387 55562396 CAGE_peak_10_at_RAB27A_5end
chr15 55562400 55562416 CAGE_peak_9_at_RAB27A_5end
chr15 55562451 55562456 CAGE_peak_15_at_RAB27A_5end
chr15 55562479 55562490 CAGE_peak_12_at_RAB27A_5end
chr15 55562496 55562505 CAGE_peak_13_at_RAB27A_5end
chr15 55562567 55562578 CAGE_peak_5_at_RAB27A_5end
chr15 55562582 55562617 CAGE_peak_3_at_RAB27A_5end
chr15 55562632 55562652 CAGE_peak_7_at_RAB27A_5end
chr15 55562656 55562664 CAGE_peak_14_at_RAB27A_5end
chr15 55563100 55563135 CAGE_peak_4_at_RAB27A_5end
chr15 55581954 55582018 CAGE_peak_1_at_RAB27A_5end
chr15 55582029 55582053 CAGE_peak_2_at_RAB27A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I055265 55265250 55269805 1.41 [{'connected_gene': 'PIGB', 'score': 16.86}, {'connected_gene': 'RAB27A', 'score': 9.22}, {'connected_gene': 'DNAAF4', 'score': 6.42}, {'connected_gene': 'GC15P055286', 'score': 0.37}, {'connected_gene': 'GC15M057438', 'score': 0.26}]
chr15 GH15I055275 55275977 55286361 1.67 [{'connected_gene': 'PIGB', 'score': 33.07}, {'connected_gene': 'RSL24D1', 'score': 11.23}, {'connected_gene': 'RAB27A', 'score': 8.4}, {'connected_gene': 'GC15P055286', 'score': 0.77}, {'connected_gene': 'GC15M057438', 'score': 0.22}]
chr15 GH15I055273 55273274 55274792 0.31 [{'connected_gene': 'PIGB', 'score': 13.07}, {'connected_gene': 'RSL24D1', 'score': 11.24}, {'connected_gene': 'GC15P055286', 'score': 0.39}, {'connected_gene': 'RAB27A', 'score': 0.25}, {'connected_gene': 'GC15M057438', 'score': 0.23}]
chr15 GH15I055317 55317728 55320776 2.08 [{'connected_gene': 'PIGB', 'score': 606.56}, {'connected_gene': 'PIGBOS1', 'score': 569.61}, {'connected_gene': 'RAB27A', 'score': 550.77}, {'connected_gene': 'RFX7', 'score': 10.77}, {'connected_gene': 'DNAAF4', 'score': 6.55}, {'connected_gene': 'ENSG00000274765', 'score': 0.34}]
chr15 GH15I055288 55288097 55291177 2.49 [{'connected_gene': 'RAB27A', 'score': 566.34}, {'connected_gene': 'ENSG00000276533', 'score': 550.77}, {'connected_gene': 'PIGB', 'score': 21.29}, {'connected_gene': 'RFX7', 'score': 10.77}, {'connected_gene': 'PIGBOS1', 'score': 10.69}, {'connected_gene': 'DNAAF4', 'score': 9.22}, {'connected_gene': 'CCPG1', 'score': 2.88}, {'connected_gene': 'PIR62136', 'score': 0.34}]
chr15 GH15I055211 55211704 55212020 0.24 [{'connected_gene': 'RAB27A', 'score': 10.89}, {'connected_gene': 'PIGB', 'score': 3.13}, {'connected_gene': 'GC15M057438', 'score': 0.39}, {'connected_gene': 'RSL24D1', 'score': 0.39}]
chr15 GH15I055248 55248602 55254343 1.53 [{'connected_gene': 'RAB27A', 'score': 13.57}, {'connected_gene': 'RSL24D1', 'score': 11.24}, {'connected_gene': 'PIGB', 'score': 6.24}, {'connected_gene': 'PYGO1', 'score': 4.77}, {'connected_gene': 'CCPG1', 'score': 4.24}, {'connected_gene': 'GC15M057438', 'score': 0.31}, {'connected_gene': 'GC15P055286', 'score': 0.29}]
chr15 GH15I054803 54803130 54803841 0.96 [{'connected_gene': 'RAB27A', 'score': 2.13}, {'connected_gene': 'RSL24D1', 'score': 1.55}, {'connected_gene': 'GC15P054745', 'score': 0.22}, {'connected_gene': 'GC15M057435', 'score': 0.07}]
chr15 GH15I055271 55270912 55270971 0.7 [{'connected_gene': 'RAB27A', 'score': 550.25}, {'connected_gene': 'GC15P055286', 'score': 0.37}, {'connected_gene': 'GC15M057438', 'score': 0.25}]
chr15 GH15I055238 55238198 55238257 0.96 [{'connected_gene': 'RAB27A', 'score': 554.7}, {'connected_gene': 'GC15M057438', 'score': 0.37}, {'connected_gene': 'GC15P055286', 'score': 0.25}]
chr15 GH15I055236 55236764 55238081 1.11 [{'connected_gene': 'RAB27A', 'score': 5.83}, {'connected_gene': 'GC15M057438', 'score': 0.39}, {'connected_gene': 'GC15P055286', 'score': 0.25}]
chr15 GH15I054884 54884442 54884606 0.46 [{'connected_gene': 'RAB27A', 'score': 3.19}, {'connected_gene': 'GC15P054745', 'score': 0.12}, {'connected_gene': 'GC15M057435', 'score': 0.1}]
chr15 GH15I055233 55233842 55235085 0.56 [{'connected_gene': 'RAB27A', 'score': 7.13}, {'connected_gene': 'GC15M057438', 'score': 0.39}, {'connected_gene': 'GC15P055286', 'score': 0.23}]
chr15 GH15I055246 55246123 55248591 0.96 [{'connected_gene': 'RAB27A', 'score': 7.2}, {'connected_gene': 'GC15M057438', 'score': 0.34}, {'connected_gene': 'GC15P055286', 'score': 0.28}]
chr15 GH15I055270 55270345 55270841 0.9 [{'connected_gene': 'RAB27A', 'score': 550.25}, {'connected_gene': 'GC15P055286', 'score': 0.37}, {'connected_gene': 'GC15M057438', 'score': 0.25}]
chr15 GH15I055244 55244369 55245960 0.31 [{'connected_gene': 'RAB27A', 'score': 6.32}, {'connected_gene': 'GC15M057438', 'score': 0.34}, {'connected_gene': 'GC15P055286', 'score': 0.26}]
chr15 GH15I055241 55241622 55243591 0.43 [{'connected_gene': 'RAB27A', 'score': 7.38}, {'connected_gene': 'GC15M057438', 'score': 0.37}, {'connected_gene': 'GC15P055286', 'score': 0.26}]
chr15 GH15I055239 55239632 55240872 1.05 [{'connected_gene': 'RAB27A', 'score': 8.73}, {'connected_gene': 'GC15M057438', 'score': 0.37}, {'connected_gene': 'GC15P055286', 'score': 0.25}]
chr15 GH15I055257 55257563 55258600 0.4 [{'connected_gene': 'RSL24D1', 'score': 10.75}, {'connected_gene': 'PIGB', 'score': 8.85}, {'connected_gene': 'GC15P055286', 'score': 0.31}, {'connected_gene': 'GC15M057438', 'score': 0.29}, {'connected_gene': 'RAB27A', 'score': 0.21}]
chr15 GH15I055194 55194906 55198317 1.83 [{'connected_gene': 'RSL24D1', 'score': 559.81}, {'connected_gene': 'PIGB', 'score': 24.14}, {'connected_gene': 'PIGBOS1', 'score': 10.26}, {'connected_gene': 'RAB27A', 'score': 10.02}, {'connected_gene': 'C15orf65', 'score': 4.2}, {'connected_gene': 'ENSG00000279145', 'score': 0.37}, {'connected_gene': 'GC15M057438', 'score': 0.31}]
chr15 GH15I055496 55495400 55495600 0.2 [{'connected_gene': 'RSL24D1', 'score': 11.27}, {'connected_gene': 'RAB27A', 'score': 7.37}, {'connected_gene': 'DNAAF4-CCPG1', 'score': 0.77}, {'connected_gene': 'DNAAF4', 'score': 0.39}, {'connected_gene': 'LOC100420711', 'score': 0.23}]
chr15 GH15I055231 55231089 55232625 0.31 [{'connected_gene': 'RSL24D1', 'score': 11.13}, {'connected_gene': 'RAB27A', 'score': 5.0}, {'connected_gene': 'GC15M057438', 'score': 0.44}, {'connected_gene': 'GC15P055286', 'score': 0.23}]
chr15 GH15I055254 55254559 55257021 1.07 [{'connected_gene': 'RSL24D1', 'score': 11.23}, {'connected_gene': 'RAB27A', 'score': 8.31}, {'connected_gene': 'GC15M057438', 'score': 0.29}, {'connected_gene': 'GC15P055286', 'score': 0.29}]
chr15 GH15I055227 55227453 55229027 0.31 [{'connected_gene': 'RSL24D1', 'score': 16.02}, {'connected_gene': 'RAB27A', 'score': 5.1}, {'connected_gene': 'GC15M057438', 'score': 0.44}, {'connected_gene': 'GC15P055286', 'score': 0.22}]
chr15 GH15I055218 55218986 55220096 0.2 [{'connected_gene': 'RSL24D1', 'score': 17.77}, {'connected_gene': 'RAB27A', 'score': 5.91}, {'connected_gene': 'GC15M057438', 'score': 0.77}]
chr15 GH15I055229 55229859 55230617 0.4 [{'connected_gene': 'RSL24D1', 'score': 10.4}, {'connected_gene': 'GC15M057438', 'score': 0.44}, {'connected_gene': 'GC15P055286', 'score': 0.22}, {'connected_gene': 'RAB27A', 'score': 0.17}]
chr15 GH15I055217 55217601 55218000 1.16 [{'connected_gene': 'RSL24D1', 'score': 12.14}, {'connected_gene': 'GC15M057438', 'score': 0.44}, {'connected_gene': 'RAB27A', 'score': 0.15}]
chr15 GH15I055286 55286401 55287200 1.04 [{'connected_gene': 'GC15P055286', 'score': 550.77}, {'connected_gene': 'PIGB', 'score': 4.59}, {'connected_gene': 'ENSG00000276533', 'score': 0.77}, {'connected_gene': 'RAB27A', 'score': 0.29}]
chr15 GH15I055220 55220175 55223539 1.6 [{'connected_gene': 'GC15M057438', 'score': 550.77}, {'connected_gene': 'RAB27A', 'score': 21.56}, {'connected_gene': 'PIGB', 'score': 9.62}, {'connected_gene': 'CCPG1', 'score': 5.99}, {'connected_gene': 'RSL24D1', 'score': 0.34}]
chr15 GH15I055224 55224230 55225671 1.14 [{'connected_gene': 'GC15M057438', 'score': 550.77}, {'connected_gene': 'RAB27A', 'score': 5.81}, {'connected_gene': 'GC15P055286', 'score': 0.21}]

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