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
ENST00000497512 [[78078377, 78078659], [78079685, 78079823], [78080519, 78080657], [78081873, 78082124], [78082632, 78082711], [78082801, 78082900], [78085426, 78085632], [78100108, 78100219], [78106249, 78106563], [78113363, 78113420], [78353393, 78353587], [78354360, 78354542]] None
ENST00000514756 [[78108916, 78108960], [78113363, 78113420], [78305790, 78305921], [78352879, 78353024], [78353393, 78353534]] None
ENST00000316355 [[78078303, 78078659], [78079685, 78079823], [78080519, 78080657], [78081873, 78082124], [78082632, 78082711], [78082801, 78082900], [78085426, 78085632], [78086953, 78091212]] [[78079685, 78079823], [78080519, 78080657], [78081873, 78082124], [78082632, 78082711], [78082801, 78082900], [78085426, 78085632], [78086953, 78087077]]
ENST00000354403 [[78078356, 78078659], [78079685, 78079823], [78080519, 78080657], [78081873, 78082124], [78082632, 78082711], [78082801, 78082900], [78085426, 78085632], [78100108, 78100219], [78106249, 78106262]] [[78079685, 78079823], [78080519, 78080657], [78081873, 78082124], [78082632, 78082711], [78082801, 78082900], [78085426, 78085632], [78100108, 78100219], [78106249, 78106262]]
ENST00000502280 [[78078362, 78078389], [78078522, 78078659], [78079685, 78079823], [78080519, 78080657], [78081873, 78082124], [78082632, 78082711], [78082801, 78082900], [78085426, 78085632], [78086953, 78087337]] [[78079685, 78079823], [78080519, 78080657], [78081873, 78082124], [78082632, 78082711], [78082801, 78082900], [78085426, 78085632], [78086953, 78087077]]
ENST00000395640 [[78079449, 78079823], [78080519, 78080657], [78081873, 78082124], [78082632, 78082711], [78082801, 78082900], [78085426, 78085632], [78086953, 78087216]] [[78079685, 78079823], [78080519, 78080657], [78081873, 78082124], [78082632, 78082711], [78082801, 78082900], [78085426, 78085632], [78086953, 78087077]]
ENST00000512918 [[78079508, 78079604], [78079685, 78079823], [78080519, 78080657], [78081873, 78082079]] [[78079685, 78079823], [78080519, 78080657], [78081873, 78082079]]
ENST00000509972 [[78079578, 78079823], [78080519, 78080657], [78081873, 78082124], [78082632, 78082711], [78082801, 78082900], [78085426, 78086163]] [[78079685, 78079823], [78080519, 78080657], [78081873, 78082124], [78082632, 78082711], [78082801, 78082900], [78085426, 78085636]]
NM_004354 [[78078356, 78078659], [78079685, 78079823], [78080519, 78080657], [78081873, 78082124], [78082632, 78082711], [78082801, 78082900], [78085426, 78085632], [78086953, 78091213]] [[78079685, 78079823], [78080519, 78080657], [78081873, 78082124], [78082632, 78082711], [78082801, 78082900], [78085426, 78085632], [78086953, 78087077]]
Promoter
Chrom Start End Description
chr4 78078105 78078109 CAGE_peak_12_at_CCNG2_5end
chr4 78078343 78078406 CAGE_peak_1_at_CCNG2_5end
chr4 78078412 78078448 CAGE_peak_2_at_CCNG2_5end
chr4 78079509 78079563 CAGE_peak_3_at_CCNG2_5end
chr4 78079570 78079586 CAGE_peak_7_at_CCNG2_5end
chr4 78079649 78079662 CAGE_peak_19_at_CCNG2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I077092 77092245 77094478 1.06 [{'connected_gene': 'CCNG2', 'score': 14.01}, {'connected_gene': 'SEPT11', 'score': 10.44}, {'connected_gene': 'SOWAHB', 'score': 5.84}, {'connected_gene': 'RPL7P17', 'score': 0.39}, {'connected_gene': 'GC04M077080', 'score': 0.37}]
chr4 GH04I077126 77126002 77128956 0.66 [{'connected_gene': 'CCNG2', 'score': 12.6}, {'connected_gene': 'SOWAHB', 'score': 5.61}, {'connected_gene': 'LOC339966', 'score': 0.39}, {'connected_gene': 'RNU6-1187P', 'score': 0.34}, {'connected_gene': 'GC04M077151', 'score': 0.34}]
chr4 GH04I077122 77122887 77124590 0.2 [{'connected_gene': 'CCNG2', 'score': 12.58}, {'connected_gene': 'CCNI', 'score': 11.94}, {'connected_gene': 'LOC339966', 'score': 0.39}, {'connected_gene': 'RNU6-1187P', 'score': 0.31}, {'connected_gene': 'GC04M077151', 'score': 0.31}]
chr4 GH04I077144 77144261 77148766 1.43 [{'connected_gene': 'CCNG2', 'score': 5.73}, {'connected_gene': 'CCNI', 'score': 3.86}, {'connected_gene': 'RNU6-1187P', 'score': 0.77}, {'connected_gene': 'GC04M077151', 'score': 0.77}, {'connected_gene': 'LOC339966', 'score': 0.29}]
chr4 GH04I077141 77141839 77143661 0.51 [{'connected_gene': 'CCNG2', 'score': 6.65}, {'connected_gene': 'RNU6-1187P', 'score': 0.44}, {'connected_gene': 'GC04M077151', 'score': 0.44}, {'connected_gene': 'LOC339966', 'score': 0.31}]
chr4 GH04I077151 77151785 77160165 2.52 [{'connected_gene': 'CCNG2', 'score': 558.22}, {'connected_gene': 'LOC101928864', 'score': 550.77}, {'connected_gene': 'CNOT6L', 'score': 42.0}, {'connected_gene': 'RPL7P17', 'score': 9.98}, {'connected_gene': 'RNU6-1187P', 'score': 0.44}, {'connected_gene': 'GC04M077151', 'score': 0.44}]
chr4 GH04I077193 77193058 77194800 0.89 [{'connected_gene': 'CCNG2', 'score': 7.49}, {'connected_gene': 'FTLP9', 'score': 0.34}]
chr4 GH04I077189 77189761 77190822 0.46 [{'connected_gene': 'CCNG2', 'score': 11.94}, {'connected_gene': 'FTLP9', 'score': 0.31}]
chr4 GH04I077196 77196375 77197673 0.49 [{'connected_gene': 'CCNG2', 'score': 7.55}, {'connected_gene': 'FTLP9', 'score': 0.37}]
chr4 GH04I077201 77201032 77203649 0.64 [{'connected_gene': 'CCNG2', 'score': 11.76}, {'connected_gene': 'FTLP9', 'score': 0.39}]
chr4 GH04I077100 77100388 77100537 0.2 [{'connected_gene': 'CCNG2', 'score': 11.92}, {'connected_gene': 'GC04M077080', 'score': 0.39}, {'connected_gene': 'RPL7P17', 'score': 0.37}]
chr4 GH04I077095 77095201 77095800 1.15 [{'connected_gene': 'CCNG2', 'score': 13.27}, {'connected_gene': 'RPL7P17', 'score': 0.39}, {'connected_gene': 'GC04M077080', 'score': 0.37}]
chr4 GH04I077346 77346870 77348371 0.43 [{'connected_gene': 'CCNG2', 'score': 4.37}, {'connected_gene': 'GC04P077349', 'score': 0.77}, {'connected_gene': 'GC04M077307', 'score': 0.31}]
chr4 GH04I077005 77005845 77012098 1.33 [{'connected_gene': 'SEPT11', 'score': 17.92}, {'connected_gene': 'SOWAHB', 'score': 7.09}, {'connected_gene': 'CCNG2', 'score': 5.65}, {'connected_gene': 'CCNI', 'score': 1.56}, {'connected_gene': 'PIR49374', 'score': 0.34}, {'connected_gene': 'LOC105377291', 'score': 0.29}]
chr4 GH04I077174 77174608 77175828 0.69 [{'connected_gene': 'CCNI', 'score': 12.03}, {'connected_gene': 'CCNG2', 'score': 0.37}, {'connected_gene': 'FTLP9', 'score': 0.26}]
chr4 GH04I077176 77176368 77179321 0.66 [{'connected_gene': 'CCNI', 'score': 12.02}, {'connected_gene': 'CCNG2', 'score': 6.56}, {'connected_gene': 'FTLP9', 'score': 0.28}]
chr4 GH04I077175 77174033 77174521 0.4 [{'connected_gene': 'CCNI', 'score': 12.03}, {'connected_gene': 'CCNG2', 'score': 0.37}, {'connected_gene': 'FTLP9', 'score': 0.26}]
chr4 GH04I077171 77171028 77173396 0.51 [{'connected_gene': 'CCNI', 'score': 12.03}, {'connected_gene': 'CCNG2', 'score': 6.11}, {'connected_gene': 'FTLP9', 'score': 0.26}]
chr4 GH04I077369 77369721 77369729 0.23 [{'connected_gene': 'CXCL13', 'score': 2.34}, {'connected_gene': 'LOC100421142', 'score': 0.37}, {'connected_gene': 'GC04M077367', 'score': 0.29}, {'connected_gene': 'CCNG2', 'score': 0.08}]
chr4 GH04I077203 77203708 77203857 0.67 [{'connected_gene': 'FTLP9', 'score': 0.39}, {'connected_gene': 'CCNG2', 'score': 0.25}]
chr4 GH04I077433 77433201 77433601 0.56 [{'connected_gene': 'GC04M077367', 'score': 0.29}, {'connected_gene': 'LOC105377295', 'score': 0.21}, {'connected_gene': 'CCNG2', 'score': 0.06}]
chr4 GH04I077349 77349908 77349997 0.2 [{'connected_gene': 'GC04P077349', 'score': 550.77}, {'connected_gene': 'LOC100421142', 'score': 550.77}, {'connected_gene': 'CCNG2', 'score': 0.08}]