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
ENST00000280187 [[176554084, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176733341, 176733400], [176923459, 176923483]] [[176556055, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176733341, 176733378]]
ENST00000393658 [[176554595, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176733341, 176733902]] [[176556055, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176733341, 176733378]]
ENST00000506894 [[176554597, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176923459, 176923815]] [[176556055, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176923459, 176923463]]
ENST00000515090 [[176555696, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176708486, 176708827]] [[176556055, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176708486, 176708502]]
ENST00000503397 [[176561284, 176561345], [176561903, 176561980], [176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176892023, 176892118]] [[176561284, 176561345], [176561903, 176561980], [176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176892023, 176892036]]
ENST00000512610 [[176572977, 176573138], [176594830, 176594987], [176622725, 176622918], [176793813, 176793881]] [[176572977, 176573138], [176594830, 176594987], [176622725, 176622766]]
ENST00000502754 [[176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176893027, 176893139]] [[176572984, 176573138], [176594830, 176594987], [176622725, 176622766]]
ENST00000507520 [[176573020, 176573138], [176594830, 176594987], [176622725, 176622918], [176708022, 176708068], [176708486, 176708538]] [[176573020, 176573138], [176594830, 176594987], [176622725, 176622766]]
ENST00000513667 [[176573040, 176573138], [176594830, 176594987], [176622725, 176622918], [176828193, 176828324]] [[176573040, 176573138], [176594830, 176594987], [176622725, 176622766]]
ENST00000512509 [[176573063, 176573138], [176594842, 176594987], [176622725, 176622918], [176882387, 176882492], [176923459, 176923507]] [[176573063, 176573138], [176594842, 176594987], [176622725, 176622766]]
ENST00000505561 [[176573068, 176573138], [176594830, 176594987], [176622725, 176622918], [176728498, 176728768]] [[176573068, 176573138], [176594830, 176594987], [176622725, 176622766]]
ENST00000505375 [[176573090, 176573138], [176594830, 176594987], [176622725, 176622918], [176702359, 176702448], [176733341, 176733415]] [[176573090, 176573138], [176594830, 176594987], [176622725, 176622766]]
ENST00000513365 [[176594830, 176594987], [176622725, 176622918], [176733341, 176733400], [176827803, 176828002], [176828193, 176828319]] [[176594830, 176594987], [176622725, 176622918], [176733341, 176733378]]
ENST00000509865 [[176594879, 176594987], [176622725, 176622918], [176868795, 176868849], [176881894, 176881910], [176882387, 176882492], [176892023, 176892098]] [[176594879, 176594987], [176622725, 176622766]]
ENST00000512897 [[176594897, 176594987], [176622725, 176622918], [176708929, 176709230]] [[176594897, 176594987], [176622725, 176622766]]
ENST00000507540 [[176594904, 176594987], [176622725, 176622918], [176812613, 176812905]] [[176594904, 176594987], [176622725, 176622766]]
ENST00000505304 [[176622735, 176622918], [176708486, 176708576], [176708929, 176709206]] [[176622735, 176622918], [176708486, 176708502]]
ENST00000503563 [[176733347, 176733400], [176812613, 176812841], [176828193, 176828467]] [[176733347, 176733378]]
ENST00000507080 [[176554595, 176556208], [176561279, 176561345], [176561903, 176562896]] None
ENST00000506219 [[176555858, 176556208], [176561279, 176561345], [176561903, 176561980], [176563174, 176563233]] None
ENST00000508323 [[176556070, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176575366, 176575474]] None
NM_001261448 [[176554087, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176708486, 176708827]] [[176556055, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176708486, 176708502]]
NM_201591 [[176554087, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176733341, 176734265]] [[176556055, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176733341, 176733378]]
NM_005277 [[176554087, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176733341, 176733400], [176923459, 176923842]] [[176556055, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176733341, 176733378]]
NR_048571 [[176554087, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176733341, 176733400], [176923459, 176923842]] None
NM_201592 [[176554087, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176923459, 176923842]] [[176556055, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176594830, 176594987], [176622725, 176622918], [176923459, 176923463]]
NM_001261447 [[176554087, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176923459, 176923842]] [[176556055, 176556208], [176561279, 176561345], [176561903, 176561980], [176572984, 176573138], [176923459, 176923741]]
Promoter
Chrom Start End Description
chr4 176594862 176594876 CAGE_peak_29_at_GPM6A_5end
chr4 176708533 176708544 CAGE_peak_28_at_GPM6A_5end
chr4 176733377 176733424 CAGE_peak_1_at_GPM6A_5end
chr4 176733425 176733439 CAGE_peak_8_at_GPM6A_5end
chr4 176733444 176733449 CAGE_peak_13_at_GPM6A_5end
chr4 176733522 176733548 CAGE_peak_10_at_GPM6A_5end
chr4 176733558 176733609 CAGE_peak_7_at_GPM6A_5end
chr4 176733617 176733629 CAGE_peak_15_at_GPM6A_5end
chr4 176733632 176733692 CAGE_peak_9_at_GPM6A_5end
chr4 176733731 176733742 CAGE_peak_17_at_GPM6A_5end
chr4 176733754 176733786 CAGE_peak_5_at_GPM6A_5end
chr4 176733824 176733835 CAGE_peak_18_at_GPM6A_5end
chr4 176733842 176733855 CAGE_peak_16_at_GPM6A_5end
chr4 176733897 176733906 CAGE_peak_26_at_GPM6A_5end
chr4 176733911 176733922 CAGE_peak_23_at_GPM6A_5end
chr4 176733927 176733991 CAGE_peak_6_at_GPM6A_5end
chr4 176734016 176734025 CAGE_peak_27_at_GPM6A_5end
chr4 176734117 176734124 CAGE_peak_30_at_GPM6A_5end
chr4 176734130 176734137 CAGE_peak_33_at_GPM6A_5end
chr4 176734149 176734174 CAGE_peak_12_at_GPM6A_5end
chr4 176734191 176734204 CAGE_peak_21_at_GPM6A_5end
chr4 176734246 176734258 CAGE_peak_20_at_GPM6A_5end
chr4 176734316 176734327 CAGE_peak_25_at_GPM6A_5end
chr4 176734368 176734405 CAGE_peak_19_at_GPM6A_5end
chr4 176812769 176812775 CAGE_peak_34_at_GPM6A_5end
chr4 176812842 176812866 CAGE_peak_14_at_GPM6A_5end
chr4 176828294 176828305 CAGE_peak_31_at_GPM6A_5end
chr4 176828307 176828316 CAGE_peak_35_at_GPM6A_5end
chr4 176923496 176923514 CAGE_peak_2_at_GPM6A_5end
chr4 176923528 176923552 CAGE_peak_3_at_GPM6A_5end
chr4 176923558 176923591 CAGE_peak_4_at_GPM6A_5end
chr4 176923592 176923603 CAGE_peak_11_at_GPM6A_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I176156 176156192 176157192 0.31 [{'connected_gene': 'GPM6A', 'score': 10.04}, {'connected_gene': 'GC04M176150', 'score': 0.77}, {'connected_gene': 'SPATA4', 'score': 0.28}, {'connected_gene': 'GC04M176057', 'score': 0.2}, {'connected_gene': 'WDR17', 'score': 0.16}]
chr4 GH04I176000 176000933 176002800 2.12 [{'connected_gene': 'GPM6A', 'score': 583.69}, {'connected_gene': 'WDR17', 'score': 15.59}, {'connected_gene': 'ENSG00000248249', 'score': 0.28}]
chr4 GH04I176090 176090214 176090469 0.24 [{'connected_gene': 'GPM6A', 'score': 10.6}, {'connected_gene': 'GC04P176099', 'score': 0.44}, {'connected_gene': 'WDR17', 'score': 0.34}, {'connected_gene': 'GC04M176057', 'score': 0.12}]
chr4 GH04I175787 175787616 175787675 0.5 [{'connected_gene': 'GPM6A', 'score': 550.08}, {'connected_gene': 'LOC101928590', 'score': 0.77}, {'connected_gene': 'GC04P175766', 'score': 0.34}]
chr4 GH04I175845 175845632 175845957 0.24 [{'connected_gene': 'GPM6A', 'score': 3.01}, {'connected_gene': 'GC04P175867', 'score': 0.34}, {'connected_gene': 'GC04P175868', 'score': 0.34}, {'connected_gene': 'GC04M175812', 'score': 0.29}]
chr4 GH04I175893 175893104 175893371 0.24 [{'connected_gene': 'GPM6A', 'score': 2.15}, {'connected_gene': 'GC04P175867', 'score': 0.31}, {'connected_gene': 'GC04P175868', 'score': 0.31}, {'connected_gene': 'GC04M175911', 'score': 0.23}]
chr4 GH04I175935 175935150 175935299 0.59 [{'connected_gene': 'GPM6A', 'score': 10.75}, {'connected_gene': 'GC04M175911', 'score': 0.39}, {'connected_gene': 'GC04P175867', 'score': 0.2}, {'connected_gene': 'GC04P175868', 'score': 0.2}]
chr4 GH04I176237 176237034 176239310 1.04 [{'connected_gene': 'ASB5', 'score': 17.09}, {'connected_gene': 'GPM6A', 'score': 9.88}, {'connected_gene': 'GC04M176057', 'score': 0.37}]
chr4 GH04I175946 175946401 175947200 0.43 [{'connected_gene': 'GC04M175911', 'score': 550.77}, {'connected_gene': 'GPM6A', 'score': 11.06}, {'connected_gene': 'WDR17', 'score': 10.5}, {'connected_gene': 'ENSG00000248249', 'score': 0.37}]
chr4 GH04I175812 175812670 175812850 0.88 [{'connected_gene': 'GC04M175812', 'score': 550.77}, {'connected_gene': 'GPM6A', 'score': 550.09}, {'connected_gene': 'LOC101928590', 'score': 0.34}]
chr4 GH04I175671 175671601 175672000 0.64 [{'connected_gene': 'GC04M175670', 'score': 0.37}, {'connected_gene': 'GC04M175555', 'score': 0.22}, {'connected_gene': 'GPM6A', 'score': 0.06}]
chr4 GH04I175816 175816636 175816880 0.22 [{'connected_gene': 'GC04M175812', 'score': 0.77}, {'connected_gene': 'GC04P175867', 'score': 0.23}, {'connected_gene': 'GC04P175868', 'score': 0.23}, {'connected_gene': 'GPM6A', 'score': 0.09}]
chr4 GH04I175771 175771002 175771399 0.43 [{'connected_gene': 'GC04P175766', 'score': 0.77}, {'connected_gene': 'LOC101928590', 'score': 0.37}, {'connected_gene': 'GPM6A', 'score': 0.07}]
chr4 GH04I175775 175775790 175777242 0.38 [{'connected_gene': 'GC04P175766', 'score': 0.39}, {'connected_gene': 'LOC101928590', 'score': 0.39}, {'connected_gene': 'GPM6A', 'score': 0.07}]

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