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
ENST00000309889 [[37820439, 37821722], [37821968, 37822808]] [[37821612, 37821722], [37821968, 37822362]]
ENST00000578283 [[37821601, 37821722], [37821968, 37822032], [37822104, 37822502]] [[37821612, 37821722], [37821968, 37822032], [37822104, 37822362]]
NM_003673 [[37821598, 37821722], [37821968, 37822807]] [[37821612, 37821722], [37821968, 37822362]]
Promoter
Chrom Start End Description
chr17 37821242 37821253 CAGE_peak_2_at_TCAP_5end
chr17 37821266 37821276 CAGE_peak_3_at_TCAP_5end
chr17 37821593 37821609 CAGE_peak_1_at_TCAP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I039651 39651793 39654137 1.33 [{'connected_gene': 'PGAP3', 'score': 14.28}, {'connected_gene': 'RAPGEFL1', 'score': 7.5}, {'connected_gene': 'STARD3', 'score': 6.52}, {'connected_gene': 'TCAP', 'score': 0.39}]
chr17 GH17I039631 39630988 39635001 1.17 [{'connected_gene': 'PGAP3', 'score': 21.86}, {'connected_gene': 'STARD3', 'score': 13.75}, {'connected_gene': 'TCAP', 'score': 12.62}, {'connected_gene': 'PNMT', 'score': 12.62}, {'connected_gene': 'NEUROD2', 'score': 12.16}, {'connected_gene': 'RNU6-233P', 'score': 11.7}, {'connected_gene': 'ERBB2', 'score': 11.09}, {'connected_gene': 'PPP1R1B', 'score': 0.44}]
chr17 GH17I039658 39658468 39668912 2.91 [{'connected_gene': 'TCAP', 'score': 550.77}, {'connected_gene': 'PNMT', 'score': 550.77}, {'connected_gene': 'PGAP3', 'score': 16.08}, {'connected_gene': 'STARD3', 'score': 12.51}, {'connected_gene': 'CDK12', 'score': 10.83}, {'connected_gene': 'LOC105371762', 'score': 10.66}, {'connected_gene': 'STAC2', 'score': 10.18}, {'connected_gene': 'FBXL20', 'score': 9.97}, {'connected_gene': 'MSL1', 'score': 1.92}]
chr17 GH17I038788 38788808 38790503 0.52 [{'connected_gene': 'PIP4K2B', 'score': 8.8}, {'connected_gene': 'PSMB3', 'score': 8.54}, {'connected_gene': 'TCAP', 'score': 5.37}, {'connected_gene': 'TBC1D3', 'score': 4.49}, {'connected_gene': 'GC17M038796', 'score': 0.44}, {'connected_gene': 'GC17M038766', 'score': 0.34}]
chr17 GH17I040061 40061890 40076700 2.95 [{'connected_gene': 'THRA', 'score': 554.9}, {'connected_gene': 'GC17P040067', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 33.4}, {'connected_gene': 'MED24', 'score': 31.76}, {'connected_gene': 'SMARCE1', 'score': 31.34}, {'connected_gene': 'MSL1', 'score': 28.13}, {'connected_gene': 'GSDMA', 'score': 20.29}, {'connected_gene': 'CDK12', 'score': 16.77}, {'connected_gene': 'RAPGEFL1', 'score': 10.71}, {'connected_gene': 'PSMD3', 'score': 10.61}, {'connected_gene': 'RPL19', 'score': 10.48}, {'connected_gene': 'TCAP', 'score': 8.67}, {'connected_gene': 'ORMDL3', 'score': 5.17}, {'connected_gene': 'GSDMB', 'score': 3.76}, {'connected_gene': 'NR1D1', 'score': 3.17}, {'connected_gene': 'PPP1R1B', 'score': 1.54}, {'connected_gene': 'NEUROD2', 'score': 1.27}, {'connected_gene': 'GC17P040059', 'score': 0.39}, {'connected_gene': 'GC17P040082', 'score': 0.39}]
chr17 GH17I038876 38876583 38887714 1.38 [{'connected_gene': 'SNORA21', 'score': 22.77}, {'connected_gene': 'MED1', 'score': 20.39}, {'connected_gene': 'RPS20P35', 'score': 13.04}, {'connected_gene': 'RPL23', 'score': 13.04}, {'connected_gene': 'SNORA21B', 'score': 13.03}, {'connected_gene': 'C17orf98', 'score': 11.85}, {'connected_gene': 'CWC25', 'score': 11.29}, {'connected_gene': 'PSMB3', 'score': 10.93}, {'connected_gene': 'LASP1', 'score': 9.99}, {'connected_gene': 'PCGF2', 'score': 7.25}, {'connected_gene': 'PPP1R1B', 'score': 5.75}, {'connected_gene': 'PIP4K2B', 'score': 5.44}, {'connected_gene': 'TBC1D3', 'score': 4.78}, {'connected_gene': 'TCAP', 'score': 4.11}, {'connected_gene': 'GC17M038893', 'score': 0.39}]
chr17 GH17I039593 39593076 39593242 0.48 [{'connected_gene': 'RAPGEFL1', 'score': 6.26}, {'connected_gene': 'THRA', 'score': 2.01}, {'connected_gene': 'TCAP', 'score': 1.73}, {'connected_gene': 'CACNB1', 'score': 1.3}, {'connected_gene': 'LOC105371771', 'score': 0.44}, {'connected_gene': 'LOC105371770', 'score': 0.34}]
chr17 GH17I038867 38867108 38876298 2.63 [{'connected_gene': 'LASP1', 'score': 560.32}, {'connected_gene': 'MED1', 'score': 84.45}, {'connected_gene': 'CDK12', 'score': 65.03}, {'connected_gene': 'SNORA21', 'score': 31.37}, {'connected_gene': 'LOC105371762', 'score': 29.1}, {'connected_gene': 'RPL23', 'score': 18.84}, {'connected_gene': 'CWC25', 'score': 16.56}, {'connected_gene': 'PSMB3', 'score': 15.96}, {'connected_gene': 'SNORA21B', 'score': 12.81}, {'connected_gene': 'C17orf98', 'score': 12.62}, {'connected_gene': 'STARD3', 'score': 10.5}, {'connected_gene': 'RPL19', 'score': 10.24}, {'connected_gene': 'RPS20P35', 'score': 4.97}, {'connected_gene': 'TCAP', 'score': 4.14}, {'connected_gene': 'FBXO47', 'score': 1.65}, {'connected_gene': 'TRC-GCA2-2', 'score': 0.77}, {'connected_gene': 'PIR59292', 'score': 0.77}, {'connected_gene': 'TRC-GCA4-1', 'score': 0.77}, {'connected_gene': 'GC17M038893', 'score': 0.34}]
chr17 GH17I039766 39766278 39783496 2.2 [{'connected_gene': 'IKZF3', 'score': 554.39}, {'connected_gene': 'GC17P039774', 'score': 550.77}, {'connected_gene': 'GSDMB', 'score': 35.97}, {'connected_gene': 'MED1', 'score': 33.8}, {'connected_gene': 'SNORD124', 'score': 33.62}, {'connected_gene': 'ORMDL3', 'score': 20.18}, {'connected_gene': 'GSDMA', 'score': 17.3}, {'connected_gene': 'MED24', 'score': 13.43}, {'connected_gene': 'CDK12', 'score': 12.55}, {'connected_gene': 'ERBB2', 'score': 11.51}, {'connected_gene': 'MIEN1', 'score': 11.12}, {'connected_gene': 'GRB7', 'score': 10.98}, {'connected_gene': 'SNORA21', 'score': 10.37}, {'connected_gene': 'PGAP3', 'score': 10.31}, {'connected_gene': 'NEUROD2', 'score': 9.8}, {'connected_gene': 'TCAP', 'score': 4.49}, {'connected_gene': 'FBXL20', 'score': 2.65}, {'connected_gene': 'CASC3', 'score': 1.72}, {'connected_gene': 'WIPF2', 'score': 1.19}, {'connected_gene': 'GC17P039806', 'score': 0.29}]
chr17 GH17I040167 40167861 40169037 1.02 [{'connected_gene': 'CASC3', 'score': 13.17}, {'connected_gene': 'MSL1', 'score': 12.46}, {'connected_gene': 'MED24', 'score': 10.74}, {'connected_gene': 'RARA', 'score': 9.99}, {'connected_gene': 'ENSG00000266208', 'score': 5.34}, {'connected_gene': 'TCAP', 'score': 4.97}, {'connected_gene': 'PIR47710', 'score': 0.77}, {'connected_gene': 'MIR6866', 'score': 0.44}, {'connected_gene': 'GC17P040124', 'score': 0.26}]
chr17 GH17I039635 39635637 39638803 2.26 [{'connected_gene': 'STARD3', 'score': 568.75}, {'connected_gene': 'MED24', 'score': 20.5}, {'connected_gene': 'CDK12', 'score': 16.78}, {'connected_gene': 'SNORA21', 'score': 16.27}, {'connected_gene': 'MED1', 'score': 14.93}, {'connected_gene': 'LOC105371762', 'score': 11.77}, {'connected_gene': 'PPP1R1B', 'score': 11.42}, {'connected_gene': 'PGAP3', 'score': 11.02}, {'connected_gene': 'MSL1', 'score': 10.32}, {'connected_gene': 'SNORD124', 'score': 10.05}, {'connected_gene': 'ORMDL3', 'score': 5.36}, {'connected_gene': 'TCAP', 'score': 0.31}]
chr17 GH17I039641 39641861 39642189 0.69 [{'connected_gene': 'STARD3', 'score': 0.77}, {'connected_gene': 'TCAP', 'score': 0.34}]
chr17 GH17I039648 39648259 39649139 0.52 [{'connected_gene': 'STARD3', 'score': 6.61}, {'connected_gene': 'TCAP', 'score': 0.37}]
chr17 GH17I039639 39639201 39641400 1.03 [{'connected_gene': 'STARD3', 'score': 18.75}, {'connected_gene': 'TCAP', 'score': 0.34}]
chr17 GH17I039649 39649688 39650783 1.16 [{'connected_gene': 'STARD3', 'score': 0.39}, {'connected_gene': 'TCAP', 'score': 0.39}]
chr17 GH17I039652 39651417 39651437 0.51 [{'connected_gene': 'STARD3', 'score': 0.39}, {'connected_gene': 'TCAP', 'score': 0.39}]
chr17 GH17I039644 39644717 39645444 0.83 [{'connected_gene': 'STARD3', 'score': 11.63}, {'connected_gene': 'TCAP', 'score': 0.37}]
chr17 GH17I039646 39646884 39647786 0.49 [{'connected_gene': 'STARD3', 'score': 0.39}, {'connected_gene': 'TCAP', 'score': 0.37}]
chr17 GH17I039642 39642689 39642748 0.73 [{'connected_gene': 'STARD3', 'score': 550.44}, {'connected_gene': 'TCAP', 'score': 0.34}]

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