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
ENST00000545111 [[91643179, 91643593], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91835866]] [[91795050, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91835782]]
ENST00000394232 [[91643514, 91643593], [91769102, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91844539]] [[91769493, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91835782]]
ENST00000557410 [[91643544, 91643593], [91671952, 91672040], [91769102, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91836401], [91837637, 91838515]] [[91769493, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91835782]]
ENST00000557291 [[91645057, 91645550], [91795048, 91795156]] None
ENST00000330276 [[91769099, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91844538]] [[91769493, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91835782]]
ENST00000553727 [[91801706, 91801784], [91803549, 91803639], [91809811, 91810178]] None
NM_001323031 [[91642817, 91642920], [91769102, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91845795]] [[91769493, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91835782]]
NM_001167580 [[91643109, 91643593], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91845795]] [[91795050, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91835782]]
NM_001323033 [[91643109, 91643593], [91769102, 91769944], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91845795]] [[91769493, 91769944], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91835782]]
NM_001323034 [[91643109, 91643593], [91769102, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91832750, 91832910], [91835598, 91845795]] [[91769493, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91832750, 91832910], [91835598, 91835782]]
NM_001323032 [[91643109, 91643593], [91769102, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91845795]] [[91769493, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91835782]]
NM_014848 [[91643109, 91643593], [91671952, 91672040], [91769102, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91845795]] [[91769493, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91835782]]
NM_001323036 [[91644097, 91644328], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91845795]] [[91644306, 91644328], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91835782]]
NM_001323038 [[91644097, 91644328], [91769102, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91845795]] [[91769493, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91835782]]
NM_001323037 [[91644097, 91644328], [91671952, 91672040], [91769102, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91845795]] [[91769493, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91835782]]
NM_001323039 [[91644885, 91645550], [91769102, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91845795]] [[91769493, 91769944], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91835782]]
NM_001323040 [[91644885, 91645550], [91671952, 91672040], [91795048, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91845795]] [[91795050, 91795229], [91795598, 91795750], [91801650, 91801784], [91803549, 91803639], [91809811, 91809922], [91810784, 91810873], [91811670, 91811835], [91824957, 91825091], [91827250, 91827451], [91832750, 91832910], [91835598, 91835782]]
Promoter
Chrom Start End Description
chr15 91642929 91642938 CAGE_peak_17_at_SV2B_5end
chr15 91643105 91643125 CAGE_peak_5_at_SV2B_5end
chr15 91643137 91643152 CAGE_peak_7_at_SV2B_5end
chr15 91643173 91643199 CAGE_peak_3_at_SV2B_5end
chr15 91643205 91643224 CAGE_peak_4_at_SV2B_5end
chr15 91643239 91643246 CAGE_peak_15_at_SV2B_5end
chr15 91643259 91643283 CAGE_peak_2_at_SV2B_5end
chr15 91643298 91643309 CAGE_peak_14_at_SV2B_5end
chr15 91643336 91643337 CAGE_peak_19_at_SV2B_5end
chr15 91643379 91643408 CAGE_peak_10_at_SV2B_5end
chr15 91643424 91643440 CAGE_peak_11_at_SV2B_5end
chr15 91643442 91643521 CAGE_peak_1_at_SV2B_5end
chr15 91643525 91643534 CAGE_peak_12_at_SV2B_5end
chr15 91643535 91643546 CAGE_peak_9_at_SV2B_5end
chr15 91643549 91643564 CAGE_peak_6_at_SV2B_5end
chr15 91645018 91645036 CAGE_peak_8_at_SV2B_5end
chr15 91645038 91645052 CAGE_peak_13_at_SV2B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I091107 91107117 91107333 0.44 [{'connected_gene': 'SV2B', 'score': 22.21}, {'connected_gene': 'NIFKP5', 'score': 14.88}, {'connected_gene': 'ENSG00000270322', 'score': 10.98}, {'connected_gene': 'ENSG00000259212', 'score': 9.78}, {'connected_gene': 'GC15P091084', 'score': 0.34}, {'connected_gene': 'GC15P091158', 'score': 0.23}]
chr15 GH15I091129 91129869 91130208 0.26 [{'connected_gene': 'SV2B', 'score': 2.35}, {'connected_gene': 'GC15P091158', 'score': 0.31}, {'connected_gene': 'GC15P091084', 'score': 0.25}]
chr15 GH15I091100 91100801 91101000 0.54 [{'connected_gene': 'SV2B', 'score': 550.77}, {'connected_gene': 'GC15P091084', 'score': 0.37}, {'connected_gene': 'GC15P091158', 'score': 0.22}]
chr15 GH15I091099 91099437 91100619 1.44 [{'connected_gene': 'SV2B', 'score': 567.91}, {'connected_gene': 'GC15P091084', 'score': 0.37}, {'connected_gene': 'GC15P091158', 'score': 0.22}]
chr15 GH15I091116 91116191 91117717 0.73 [{'connected_gene': 'SV2B', 'score': 46.26}, {'connected_gene': 'GC15P091084', 'score': 0.29}, {'connected_gene': 'GC15P091158', 'score': 0.26}]
chr15 GH15I091114 91114405 91114523 0.22 [{'connected_gene': 'SV2B', 'score': 6.19}, {'connected_gene': 'GC15P091084', 'score': 0.31}, {'connected_gene': 'GC15P091158', 'score': 0.26}]
chr15 GH15I091263 91263424 91265483 1.08 [{'connected_gene': 'IQGAP1', 'score': 4.29}, {'connected_gene': 'FES', 'score': 1.35}, {'connected_gene': 'LOC105370972', 'score': 0.44}, {'connected_gene': 'GC15M091312', 'score': 0.34}, {'connected_gene': 'PIR60321', 'score': 0.34}, {'connected_gene': 'SV2B', 'score': 0.1}]
chr15 GH15I091258 91258052 91259180 0.52 [{'connected_gene': 'LOC105370972', 'score': 0.77}, {'connected_gene': 'GC15M091312', 'score': 0.31}, {'connected_gene': 'PIR60321', 'score': 0.31}, {'connected_gene': 'SV2B', 'score': 0.1}]
chr15 GH15I091559 91559169 91559330 0.45 [{'connected_gene': 'CRAT37', 'score': 4.99}, {'connected_gene': 'SV2B', 'score': 1.59}, {'connected_gene': 'ENSG00000258954', 'score': 0.31}, {'connected_gene': 'LOC105370973', 'score': 0.16}, {'connected_gene': 'GC15P091451', 'score': 0.14}]
chr15 GH15I091271 91271691 91271820 0.64 [{'connected_gene': 'NIFKP5', 'score': 16.88}, {'connected_gene': 'GC15M091312', 'score': 0.37}, {'connected_gene': 'PIR60321', 'score': 0.37}, {'connected_gene': 'LOC105370972', 'score': 0.37}, {'connected_gene': 'SV2B', 'score': 0.09}]
chr15 GH15I091291 91291601 91292088 0.77 [{'connected_gene': 'PIR40900', 'score': 0.77}, {'connected_gene': 'GC15M091309', 'score': 0.77}, {'connected_gene': 'PIR37263', 'score': 0.77}, {'connected_gene': 'SV2B', 'score': 0.08}]
chr15 GH15I091230 91230242 91230635 0.24 [{'connected_gene': 'GC15P091215', 'score': 0.39}, {'connected_gene': 'LOC105370972', 'score': 0.34}, {'connected_gene': 'SV2B', 'score': 0.12}]
chr15 GH15I091279 91279031 91279160 0.68 [{'connected_gene': 'GC15M091312', 'score': 0.44}, {'connected_gene': 'PIR60321', 'score': 0.44}, {'connected_gene': 'LOC105370972', 'score': 0.34}, {'connected_gene': 'SV2B', 'score': 0.1}]

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