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
ENST00000379661 [[57769641, 57769767], [57770889, 57771195], [57775598, 57775729], [57778305, 57778423], [57784738, 57784839], [57785172, 57785214], [57785552, 57785636], [57785851, 57785967], [57786441, 57786513], [57786689, 57786840], [57786988, 57787179], [57787300, 57787431], [57787856, 57787907], [57788841, 57788909], [57789030, 57789150], [57789256, 57789406], [57789752, 57789829], [57789903, 57789978], [57790267, 57790384], [57790725, 57791162]] [[57771155, 57771195], [57775598, 57775729], [57778305, 57778423], [57784738, 57784839], [57785172, 57785214], [57785552, 57785636], [57785851, 57785967], [57786441, 57786513], [57786689, 57786840], [57786988, 57787179], [57787300, 57787431], [57787856, 57787907], [57788841, 57788909], [57789030, 57789150], [57789256, 57789406], [57789752, 57789829], [57789903, 57789978], [57790267, 57790384], [57790725, 57790858]]
ENST00000562592 [[57769650, 57769767], [57770889, 57770975], [57771137, 57771195], [57775598, 57775729], [57778305, 57778423], [57784738, 57784839], [57785172, 57785214], [57785552, 57785636], [57785851, 57785967]] [[57771155, 57771195], [57775598, 57775729], [57778305, 57778423], [57784738, 57784839], [57785172, 57785214], [57785552, 57785636], [57785851, 57785967]]
ENST00000566726 [[57769702, 57769767], [57770889, 57770979], [57775598, 57775729], [57778305, 57778423], [57784738, 57784839], [57785172, 57785214], [57785552, 57785636], [57785851, 57785948]] [[57770927, 57770979], [57775598, 57775729], [57778305, 57778423], [57784738, 57784839], [57785172, 57785214], [57785552, 57785636], [57785851, 57785948]]
ENST00000566611 [[57769775, 57770028], [57770889, 57771195], [57775598, 57775729], [57778305, 57778423], [57784738, 57784839], [57785172, 57785214], [57785552, 57785636], [57785851, 57787179], [57787300, 57787431], [57787856, 57787907], [57788841, 57788909], [57789030, 57789150], [57789256, 57789406], [57789752, 57789829], [57789903, 57790797]] None
ENST00000566785 [[57770674, 57770790], [57770889, 57771195], [57775598, 57775729], [57778305, 57778371]] [[57771155, 57771195], [57775598, 57775729], [57778305, 57778371]]
ENST00000569627 [[57770884, 57771195], [57775598, 57775729], [57778305, 57778423], [57785172, 57785214], [57785552, 57785572]] [[57771155, 57771195], [57775598, 57775729], [57778305, 57778423], [57785172, 57785214], [57785552, 57785572]]
ENST00000563127 [[57771103, 57771195], [57775598, 57775729], [57778305, 57778423], [57784738, 57784839], [57785172, 57785214], [57785552, 57785636], [57785851, 57786016]] None
ENST00000563462 [[57787368, 57787431], [57787856, 57787907], [57788841, 57788909], [57789030, 57789150], [57789256, 57789406], [57789701, 57789829], [57789903, 57789978], [57790267, 57790384], [57790725, 57790780]] [[57787368, 57787431], [57787856, 57787907], [57788841, 57788909], [57789030, 57789150], [57789256, 57789406], [57789701, 57789829], [57789903, 57789978], [57790267, 57790384], [57790725, 57790780]]
ENST00000569018 [[57789057, 57789150], [57789256, 57789406], [57789752, 57789978], [57790267, 57790384], [57790725, 57790807]] None
ENST00000562542 [[57789359, 57789406], [57789701, 57789978], [57790267, 57790384], [57790725, 57790796]] None
NM_005886 [[57769659, 57769767], [57770889, 57771195], [57775598, 57775729], [57778305, 57778423], [57784738, 57784839], [57785172, 57785214], [57785552, 57785636], [57785851, 57785967], [57786441, 57786513], [57786689, 57786840], [57786988, 57787179], [57787300, 57787431], [57787856, 57787907], [57788841, 57788909], [57789030, 57789150], [57789256, 57789406], [57789752, 57789829], [57789903, 57789978], [57790267, 57790384], [57790725, 57791162]] [[57771155, 57771195], [57775598, 57775729], [57778305, 57778423], [57784738, 57784839], [57785172, 57785214], [57785552, 57785636], [57785851, 57785967], [57786441, 57786513], [57786689, 57786840], [57786988, 57787179], [57787300, 57787431], [57787856, 57787907], [57788841, 57788909], [57789030, 57789150], [57789256, 57789406], [57789752, 57789829], [57789903, 57789978], [57790267, 57790384], [57790725, 57790858]]
Promoter
Chrom Start End Description
chr16 57769635 57769702 CAGE_peak_1_at_KATNB1_5end
chr16 57769709 57769747 CAGE_peak_2_at_KATNB1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I057583 57583460 57584776 0.2 [{'connected_gene': 'ADGRG1', 'score': 12.8}, {'connected_gene': 'ADGRG3', 'score': 12.49}, {'connected_gene': 'DRC7', 'score': 12.12}, {'connected_gene': 'KATNB1', 'score': 11.63}, {'connected_gene': 'CNGB1', 'score': 9.87}, {'connected_gene': 'CCDC102A', 'score': 5.3}, {'connected_gene': 'FAM192A', 'score': 4.68}, {'connected_gene': 'GC16P057594', 'score': 0.39}, {'connected_gene': 'GC16P057566', 'score': 0.37}, {'connected_gene': 'LOC105371291', 'score': 0.34}, {'connected_gene': 'ADGRG5', 'score': 0.23}]
chr16 GH16I057581 57581592 57582616 0.43 [{'connected_gene': 'ADGRG1', 'score': 12.4}, {'connected_gene': 'ADGRG3', 'score': 12.25}, {'connected_gene': 'DRC7', 'score': 12.12}, {'connected_gene': 'KATNB1', 'score': 11.63}, {'connected_gene': 'CNGB1', 'score': 9.66}, {'connected_gene': 'CCDC102A', 'score': 5.42}, {'connected_gene': 'GC16P057594', 'score': 0.39}, {'connected_gene': 'GC16P057566', 'score': 0.37}, {'connected_gene': 'LOC105371291', 'score': 0.31}, {'connected_gene': 'ADGRG5', 'score': 0.23}]
chr16 GH16I057739 57739726 57742504 0.31 [{'connected_gene': 'ADGRG1', 'score': 10.86}, {'connected_gene': 'CNGB1', 'score': 10.18}, {'connected_gene': 'DRC7', 'score': 6.6}, {'connected_gene': 'KIFC3', 'score': 5.08}, {'connected_gene': 'GC16M057746', 'score': 0.44}, {'connected_gene': 'KATNB1', 'score': 0.44}]
chr16 GH16I057645 57645114 57649778 2.17 [{'connected_gene': 'ADGRG1', 'score': 550.28}, {'connected_gene': 'KATNB1', 'score': 12.08}, {'connected_gene': 'RSPRY1', 'score': 11.07}, {'connected_gene': 'CNOT1', 'score': 10.91}, {'connected_gene': 'POLR2C', 'score': 9.86}, {'connected_gene': 'ADGRG5', 'score': 2.22}, {'connected_gene': 'CFAP20', 'score': 1.62}, {'connected_gene': 'GC16P057639', 'score': 0.44}, {'connected_gene': 'GC16M057649', 'score': 0.44}]
chr16 GH16I057684 57683141 57683468 0.78 [{'connected_gene': 'RSPRY1', 'score': 21.15}, {'connected_gene': 'CNOT1', 'score': 18.9}, {'connected_gene': 'ADGRG1', 'score': 13.1}, {'connected_gene': 'KATNB1', 'score': 12.0}, {'connected_gene': 'POLR2C', 'score': 9.85}, {'connected_gene': 'ADGRG3', 'score': 3.96}, {'connected_gene': 'ZNF319', 'score': 3.12}, {'connected_gene': 'FAM192A', 'score': 1.86}, {'connected_gene': 'DRC7', 'score': 0.39}, {'connected_gene': 'ENSG00000260467', 'score': 0.37}]
chr16 GH16I057683 57683703 57685647 0.31 [{'connected_gene': 'DRC7', 'score': 32.63}, {'connected_gene': 'ADGRG1', 'score': 13.1}, {'connected_gene': 'KATNB1', 'score': 12.03}, {'connected_gene': 'ENSG00000260467', 'score': 0.37}, {'connected_gene': 'ADGRG3', 'score': 0.37}]
chr16 GH16I057754 57754957 57755670 0.49 [{'connected_gene': 'LOC388282', 'score': 11.83}, {'connected_gene': 'KIFC3', 'score': 11.71}, {'connected_gene': 'CNGB1', 'score': 10.29}, {'connected_gene': 'ENSG00000276166', 'score': 0.77}, {'connected_gene': 'GC16M057746', 'score': 0.44}, {'connected_gene': 'KATNB1', 'score': 0.37}]
chr16 GH16I057756 57756106 57758037 1.11 [{'connected_gene': 'KIFC3', 'score': 18.65}, {'connected_gene': 'LOC388282', 'score': 11.61}, {'connected_gene': 'ENSG00000276166', 'score': 0.77}, {'connected_gene': 'GC16M057746', 'score': 0.44}, {'connected_gene': 'KATNB1', 'score': 0.34}]
chr16 GH16I057642 57642053 57644638 0.99 [{'connected_gene': 'CNOT1', 'score': 13.66}, {'connected_gene': 'KATNB1', 'score': 12.08}, {'connected_gene': 'RSPRY1', 'score': 11.37}, {'connected_gene': 'POLR2C', 'score': 10.59}, {'connected_gene': 'CNGB1', 'score': 9.19}, {'connected_gene': 'ADGRG1', 'score': 6.01}, {'connected_gene': 'GC16P057639', 'score': 0.77}, {'connected_gene': 'GC16M057649', 'score': 0.39}]
chr16 GH16I057734 57734440 57738244 2.08 [{'connected_gene': 'KATNB1', 'score': 550.77}, {'connected_gene': 'RSPRY1', 'score': 47.29}, {'connected_gene': 'CNOT1', 'score': 42.76}, {'connected_gene': 'SETD6', 'score': 14.17}, {'connected_gene': 'ADGRG1', 'score': 10.87}, {'connected_gene': 'CSNK2A2', 'score': 10.62}, {'connected_gene': 'CNGB1', 'score': 10.18}, {'connected_gene': 'DRC7', 'score': 7.56}, {'connected_gene': 'LOC101927556', 'score': 5.55}, {'connected_gene': 'GC16M057746', 'score': 0.39}]
chr16 GH16I057700 57700429 57702116 1.05 [{'connected_gene': 'ENSG00000260467', 'score': 550.77}, {'connected_gene': 'KATNB1', 'score': 13.4}, {'connected_gene': 'DRC7', 'score': 13.21}, {'connected_gene': 'ADGRG3', 'score': 13.09}, {'connected_gene': 'ADGRG1', 'score': 12.96}]