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
ENST00000544600 [[89998679, 89999077], [90019985, 90020059], [90020312, 90020437], [90020747, 90020884], [90021067, 90021205], [90022552, 90022719], [90023491, 90023639], [90026297, 90026448], [90030029, 90030216], [90039591, 90039814]] [[89999050, 89999077], [90019985, 90020059], [90020312, 90020437], [90020747, 90020884], [90021067, 90021205], [90022552, 90022719], [90023491, 90023639], [90026297, 90026448], [90030029, 90030216], [90039591, 90039775]]
ENST00000560081 [[90014628, 90015086], [90015952, 90016094], [90019985, 90020059], [90020312, 90020437], [90020747, 90020808], [90021067, 90021205], [90022552, 90022719], [90023491, 90023639], [90026297, 90026448], [90030029, 90030216], [90039591, 90039802]] [[90020787, 90020808], [90021067, 90021205], [90022552, 90022719], [90023491, 90023639], [90026297, 90026448], [90030029, 90030216], [90039591, 90039775]]
ENST00000268122 [[90014637, 90015086], [90015941, 90016094], [90019985, 90020059], [90020312, 90020437], [90020747, 90020884], [90021067, 90021205], [90022552, 90022719], [90023491, 90023639], [90026297, 90026448], [90030029, 90030216], [90039591, 90039844]] [[90015965, 90016094], [90019985, 90020059], [90020312, 90020437], [90020747, 90020884], [90021067, 90021205], [90022552, 90022719], [90023491, 90023639], [90026297, 90026448], [90030029, 90030216], [90039591, 90039775]]
ENST00000558360 [[90014675, 90014953], [90015941, 90016094], [90019985, 90020059], [90020312, 90020437], [90020747, 90020884], [90021067, 90021205], [90022552, 90022661]] [[90015965, 90016094], [90019985, 90020059], [90020312, 90020437], [90020747, 90020884], [90021067, 90021205], [90022552, 90022661]]
ENST00000558030 [[90014987, 90015086], [90015941, 90016094], [90019985, 90020059], [90020312, 90020437], [90020747, 90020884], [90021067, 90021205], [90022552, 90022719], [90026345, 90026448], [90030029, 90030216], [90039591, 90039813]] [[90021144, 90021205], [90022552, 90022719], [90026345, 90026448], [90030029, 90030216], [90039591, 90039775]]
ENST00000558184 [[90020958, 90021205], [90022552, 90022719], [90023491, 90023639], [90026297, 90026448], [90029501, 90029760], [90030029, 90030216], [90039591, 90039820]] [[90029720, 90029760], [90030029, 90030216], [90039591, 90039775]]
ENST00000559638 [[90021029, 90021205], [90022552, 90022967]] None
NM_001321041 [[90014637, 90015086], [90015952, 90016094], [90019985, 90020059], [90020312, 90020437], [90020747, 90020884], [90021067, 90021205], [90022552, 90022719], [90023491, 90023639], [90026297, 90026448], [90030029, 90030216], [90039591, 90039814]] [[90015965, 90016094], [90019985, 90020059], [90020312, 90020437], [90020747, 90020884], [90021067, 90021205], [90022552, 90022719], [90023491, 90023639], [90026297, 90026448], [90030029, 90030216], [90039591, 90039775]]
NM_016321 [[90014637, 90015086], [90015941, 90016094], [90019985, 90020059], [90020312, 90020437], [90020747, 90020884], [90021067, 90021205], [90022552, 90022719], [90023491, 90023639], [90026297, 90026448], [90030029, 90030216], [90039591, 90039844]] [[90015965, 90016094], [90019985, 90020059], [90020312, 90020437], [90020747, 90020884], [90021067, 90021205], [90022552, 90022719], [90023491, 90023639], [90026297, 90026448], [90030029, 90030216], [90039591, 90039775]]
NR_110261 [[90014637, 90015086], [90015952, 90016094], [90019985, 90020059], [90020312, 90020437], [90020747, 90020808], [90021067, 90021205], [90022552, 90022719], [90023491, 90023639], [90026297, 90026448], [90030029, 90030216], [90039591, 90039844]] None
Promoter
Chrom Start End Description
chr15 90039805 90039821 CAGE_peak_1_at_RHCG_5end
chr15 90040037 90040051 CAGE_peak_2_at_RHCG_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I089482 89482206 89484436 0.38 [{'connected_gene': 'POLG', 'score': 10.55}, {'connected_gene': 'ENSG00000261478', 'score': 6.98}, {'connected_gene': 'RHCG', 'score': 0.39}, {'connected_gene': 'LOC105370964', 'score': 0.39}]
chr15 GH15I089472 89472910 89473059 0.95 [{'connected_gene': 'POLG', 'score': 10.82}, {'connected_gene': 'LOC105370964', 'score': 0.77}, {'connected_gene': 'RHCG', 'score': 0.34}]
chr15 GH15I089480 89480258 89481107 0.31 [{'connected_gene': 'POLG', 'score': 10.55}, {'connected_gene': 'LOC105370964', 'score': 0.39}, {'connected_gene': 'RHCG', 'score': 0.37}]
chr15 GH15I089477 89477172 89478663 0.2 [{'connected_gene': 'POLG', 'score': 10.55}, {'connected_gene': 'LOC105370964', 'score': 0.44}, {'connected_gene': 'RHCG', 'score': 0.37}]
chr15 GH15I089479 89479173 89480059 0.31 [{'connected_gene': 'POLG', 'score': 10.55}, {'connected_gene': 'ENSG00000261478', 'score': 8.39}, {'connected_gene': 'LOC105370964', 'score': 0.39}, {'connected_gene': 'RHCG', 'score': 0.37}]
chr15 GH15I089551 89551692 89551868 0.84 [{'connected_gene': 'RHCG', 'score': 3.85}, {'connected_gene': 'TICRR', 'score': 0.34}, {'connected_gene': 'LINC00928', 'score': 0.31}, {'connected_gene': 'ENSG00000259713', 'score': 0.29}]
chr15 GH15I089495 89495846 89497173 1.64 [{'connected_gene': 'RHCG', 'score': 550.77}, {'connected_gene': 'ENSG00000173867', 'score': 11.39}, {'connected_gene': 'POLG', 'score': 9.81}, {'connected_gene': 'LOC105370964', 'score': 0.31}]
chr15 GH15I089529 89529974 89532647 0.31 [{'connected_gene': 'RHCG', 'score': 13.31}, {'connected_gene': 'PLIN1', 'score': 10.21}, {'connected_gene': 'FANCI', 'score': 5.21}, {'connected_gene': 'GDPGP1', 'score': 4.55}, {'connected_gene': 'LINC00928', 'score': 0.44}, {'connected_gene': 'ENSG00000259713', 'score': 0.39}, {'connected_gene': 'TICRR', 'score': 0.26}]
chr15 GH15I089526 89526832 89527703 0.31 [{'connected_gene': 'RHCG', 'score': 13.31}, {'connected_gene': 'LINC00928', 'score': 0.77}, {'connected_gene': 'ENSG00000259713', 'score': 0.44}, {'connected_gene': 'TICRR', 'score': 0.25}]
chr15 GH15I089512 89512939 89513926 0.77 [{'connected_gene': 'RHCG', 'score': 5.26}, {'connected_gene': 'ENSG00000261478', 'score': 0.77}, {'connected_gene': 'ENSG00000259713', 'score': 0.44}, {'connected_gene': 'LINC00928', 'score': 0.39}]
chr15 GH15I089489 89489879 89490490 0.2 [{'connected_gene': 'RHCG', 'score': 0.44}, {'connected_gene': 'LOC105370964', 'score': 0.34}]
chr15 GH15I089490 89490568 89491562 0.38 [{'connected_gene': 'RHCG', 'score': 0.44}, {'connected_gene': 'LOC105370964', 'score': 0.34}]
chr15 GH15I089471 89470672 89471538 0.49 [{'connected_gene': 'LOC105370964', 'score': 550.77}, {'connected_gene': 'POLG', 'score': 10.82}, {'connected_gene': 'ENSG00000261478', 'score': 5.17}, {'connected_gene': 'GC15P089465', 'score': 0.44}, {'connected_gene': 'RHCG', 'score': 0.31}]
chr15 GH15I089470 89470510 89470659 0.74 [{'connected_gene': 'LOC105370964', 'score': 550.77}, {'connected_gene': 'POLG', 'score': 10.82}, {'connected_gene': 'ENSG00000261478', 'score': 8.48}, {'connected_gene': 'GC15P089465', 'score': 0.44}, {'connected_gene': 'RHCG', 'score': 0.31}]
chr15 GH15I089468 89468930 89470491 0.8 [{'connected_gene': 'LOC105370964', 'score': 550.77}, {'connected_gene': 'POLG', 'score': 10.81}, {'connected_gene': 'ENSG00000261478', 'score': 8.51}, {'connected_gene': 'LOC105370963', 'score': 0.44}, {'connected_gene': 'GC15P089465', 'score': 0.44}, {'connected_gene': 'RHCG', 'score': 0.31}]
chr15 GH15I089474 89474133 89474697 0.56 [{'connected_gene': 'NIFKP5', 'score': 24.18}, {'connected_gene': 'ENSG00000228998', 'score': 20.05}, {'connected_gene': 'POLG', 'score': 10.82}, {'connected_gene': 'TICRR', 'score': 2.05}, {'connected_gene': 'MESP1', 'score': 1.38}, {'connected_gene': 'LOC105370964', 'score': 0.44}, {'connected_gene': 'RHCG', 'score': 0.34}]
chr15 GH15I089486 89486412 89487261 0.74 [{'connected_gene': 'ENSG00000261478', 'score': 9.33}, {'connected_gene': 'RHCG', 'score': 0.44}, {'connected_gene': 'LOC105370964', 'score': 0.37}]
chr15 GH15I089498 89498330 89498499 1.14 [{'connected_gene': 'GC15P089499', 'score': 550.77}, {'connected_gene': 'RHCG', 'score': 550.77}]
chr15 GH15I089499 89498612 89498945 1.02 [{'connected_gene': 'GC15P089499', 'score': 550.77}, {'connected_gene': 'ENSG00000261478', 'score': 15.54}, {'connected_gene': 'NIFKP5', 'score': 12.64}, {'connected_gene': 'RHCG', 'score': 0.77}]

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