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
ENST00000360117 [[64126510, 64126663], [64129414, 64129556], [64139554, 64139714], [64150776, 64150903], [64151625, 64151752], [64152242, 64152338], [64166701, 64166957]] [[64152319, 64152338], [64166701, 64166957]]
ENST00000344930 [[64126575, 64126663], [64139554, 64139714], [64151625, 64151752], [64152242, 64152338], [64166701, 64171404]] [[64152319, 64152338], [64166701, 64169034]]
ENST00000423627 [[64139550, 64139714], [64150776, 64150903], [64151625, 64151752], [64152242, 64152338], [64166701, 64171399]] [[64152319, 64152338], [64166701, 64169034]]
ENST00000395391 [[64149732, 64150903], [64151625, 64151752], [64152242, 64152338], [64166701, 64171401]] [[64152319, 64152338], [64166701, 64169034]]
NR_104149 [[64126460, 64126663], [64139554, 64139714], [64144712, 64148208]] None
NR_104148 [[64126460, 64126663], [64129414, 64129556], [64139554, 64139714], [64144712, 64148208]] None
NM_001282360 [[64126460, 64126663], [64151625, 64151752], [64166701, 64171960]] [[64126660, 64126663], [64151625, 64151752], [64166701, 64169034]]
NM_001282359 [[64126460, 64126663], [64151625, 64151752], [64152242, 64152338], [64166701, 64171960]] [[64126660, 64126663], [64151625, 64151752], [64152242, 64152338], [64166701, 64169034]]
NM_001013746 [[64126460, 64126663], [64139554, 64139714], [64151625, 64151752], [64152242, 64152338], [64166701, 64171960]] [[64152319, 64152338], [64166701, 64169034]]
NM_016220 [[64126460, 64126663], [64129414, 64129556], [64139554, 64139714], [64150776, 64150903], [64151625, 64151752], [64152242, 64152338], [64166701, 64171960]] [[64152319, 64152338], [64166701, 64169034]]
Promoter
Chrom Start End Description
chr7 64126496 64126498 CAGE_peak_3_at_ZNF107_5end
chr7 64126503 64126528 CAGE_peak_1_at_ZNF107_5end
chr7 64126535 64126559 CAGE_peak_2_at_ZNF107_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I064792 64792738 64795548 2.02 [{'connected_gene': 'ZNF138', 'score': 556.91}, {'connected_gene': 'EEF1DP4', 'score': 42.26}, {'connected_gene': 'GABPAP', 'score': 25.65}, {'connected_gene': 'GTF2IP14', 'score': 17.2}, {'connected_gene': 'ERV3-1', 'score': 6.15}, {'connected_gene': 'ZNF107', 'score': 5.97}, {'connected_gene': 'ENSG00000234338', 'score': 5.81}, {'connected_gene': 'ENSG00000277206', 'score': 0.31}]
chr7 GH07I064312 64312437 64315601 1.9 [{'connected_gene': 'ZNF736', 'score': 562.4}, {'connected_gene': 'GTF2IP14', 'score': 11.78}, {'connected_gene': 'ENSG00000227113', 'score': 10.71}, {'connected_gene': 'YWHAEP1', 'score': 9.96}, {'connected_gene': 'ZNF727', 'score': 9.74}, {'connected_gene': 'GUSBP6', 'score': 8.81}, {'connected_gene': 'ZNF107', 'score': 5.2}, {'connected_gene': 'SEPHS1P1', 'score': 5.03}, {'connected_gene': 'GC07M064314', 'score': 0.77}, {'connected_gene': 'LOC105375322', 'score': 0.44}]
chr7 GH07I064541 64541195 64542427 0.63 [{'connected_gene': 'ZNF107', 'score': 14.16}, {'connected_gene': 'ZNF680P1', 'score': 7.17}, {'connected_gene': 'ZNF138', 'score': 5.47}, {'connected_gene': 'BNIP3P42', 'score': 0.44}, {'connected_gene': 'ZNF680', 'score': 0.34}, {'connected_gene': 'HNRNPCP7', 'score': 0.26}]
chr7 GH07I064459 64459463 64460724 0.57 [{'connected_gene': 'ZNF107', 'score': 13.64}, {'connected_gene': 'ZNF680P1', 'score': 0.44}, {'connected_gene': 'VN1R40P', 'score': 0.37}]
chr7 GH07I064463 64463223 64464399 0.77 [{'connected_gene': 'ZNF107', 'score': 11.92}, {'connected_gene': 'ZNF680P1', 'score': 0.44}, {'connected_gene': 'VN1R40P', 'score': 0.37}]
chr7 GH07I064558 64558007 64560904 0.79 [{'connected_gene': 'ZNF107', 'score': 8.86}, {'connected_gene': 'YWHAEP1', 'score': 7.42}, {'connected_gene': 'ZNF680P1', 'score': 7.13}, {'connected_gene': 'ZNF680', 'score': 0.77}, {'connected_gene': 'BNIP3P42', 'score': 0.44}]
chr7 GH07I064664 64664855 64668054 2.01 [{'connected_gene': 'ZNF107', 'score': 598.0}, {'connected_gene': 'CCT6P3', 'score': 14.24}, {'connected_gene': 'GTF2IP14', 'score': 11.79}, {'connected_gene': 'ZNF736', 'score': 11.72}, {'connected_gene': 'LOC441239', 'score': 10.82}, {'connected_gene': 'ERV3-1', 'score': 10.39}, {'connected_gene': 'SEPHS1P1', 'score': 6.34}, {'connected_gene': 'ZNF138', 'score': 5.43}, {'connected_gene': 'MIR6839', 'score': 0.39}]
chr7 GH07I064679 64679120 64679179 0.5 [{'connected_gene': 'ZNF107', 'score': 564.59}, {'connected_gene': 'MIR6839', 'score': 550.77}, {'connected_gene': 'BNIP3P11', 'score': 0.44}]
chr7 GH07I064991 64991118 64991177 0.61 [{'connected_gene': 'ZNF117', 'score': 561.76}, {'connected_gene': 'GUSB', 'score': 12.52}, {'connected_gene': 'ZNF107', 'score': 12.05}, {'connected_gene': 'ERV3-1', 'score': 11.84}, {'connected_gene': 'ZNF736', 'score': 11.71}, {'connected_gene': 'LOC441239', 'score': 10.89}, {'connected_gene': 'LOC84214', 'score': 10.06}, {'connected_gene': 'VN1R43P', 'score': 0.37}]
chr7 GH07I064562 64562001 64563800 1.98 [{'connected_gene': 'ZNF680', 'score': 550.77}, {'connected_gene': 'ZNF107', 'score': 14.28}, {'connected_gene': 'CCT6P3', 'score': 14.23}, {'connected_gene': 'GTF2IP14', 'score': 11.78}, {'connected_gene': 'ZNF736', 'score': 11.73}, {'connected_gene': 'GABPAP', 'score': 10.21}, {'connected_gene': 'ZNF117', 'score': 5.17}, {'connected_gene': 'LOC644387', 'score': 4.53}, {'connected_gene': 'BNIP3P42', 'score': 0.39}]
chr7 GH07I064561 64561201 64561400 0.2 [{'connected_gene': 'ZNF680', 'score': 550.77}, {'connected_gene': 'ZNF107', 'score': 5.59}, {'connected_gene': 'BNIP3P42', 'score': 0.44}]
chr7 GH07I065373 65373188 65375322 2.02 [{'connected_gene': 'ZNF92', 'score': 550.77}, {'connected_gene': 'GTF2IP14', 'score': 48.26}, {'connected_gene': 'GUSB', 'score': 23.35}, {'connected_gene': 'CCT6P1', 'score': 13.01}, {'connected_gene': 'ZNF107', 'score': 12.19}, {'connected_gene': 'CCT6P3', 'score': 10.89}, {'connected_gene': 'ERV3-1', 'score': 10.4}, {'connected_gene': 'ENSG00000238124', 'score': 0.17}]
chr7 GH07I064877 64877201 64877801 0.68 [{'connected_gene': 'ZNF273', 'score': 7.41}, {'connected_gene': 'ZNF117', 'score': 6.58}, {'connected_gene': 'ZNF107', 'score': 4.31}, {'connected_gene': 'LOC441239', 'score': 0.39}]
chr7 GH07I064685 64685253 64690544 0.75 [{'connected_gene': 'BNIP3P11', 'score': 550.77}, {'connected_gene': 'ZNF107', 'score': 37.49}, {'connected_gene': 'SEPHS1P1', 'score': 6.35}, {'connected_gene': 'GC07P064707', 'score': 0.37}]
chr7 GH07I064569 64569401 64570400 0.63 [{'connected_gene': 'LOC100129293', 'score': 550.77}, {'connected_gene': 'ZNF107', 'score': 13.31}, {'connected_gene': 'ZNF680P1', 'score': 6.79}, {'connected_gene': 'ZNF138', 'score': 5.47}, {'connected_gene': 'LOC100133092', 'score': 0.77}]
chr7 GH07I065510 65510188 65510317 0.6 [{'connected_gene': 'ENSG00000226767', 'score': 550.77}, {'connected_gene': 'ZNF107', 'score': 5.37}, {'connected_gene': 'PIR53398', 'score': 0.39}, {'connected_gene': 'LOC101929322', 'score': 0.25}]
chr7 GH07I064305 64305921 64308540 1.65 [{'connected_gene': 'GC07P064309', 'score': 550.77}, {'connected_gene': 'LOC105375322', 'score': 550.77}, {'connected_gene': 'PIR31902', 'score': 550.77}, {'connected_gene': 'ZNF736', 'score': 550.77}, {'connected_gene': 'GUSBP6', 'score': 9.77}, {'connected_gene': 'ZNF680', 'score': 9.01}, {'connected_gene': 'YWHAEP1', 'score': 7.64}, {'connected_gene': 'ZNF680P1', 'score': 7.4}, {'connected_gene': 'TRIM60P18', 'score': 6.91}, {'connected_gene': 'SEPHS1P1', 'score': 5.16}, {'connected_gene': 'CCT6P3', 'score': 4.73}, {'connected_gene': 'ZNF107', 'score': 3.89}, {'connected_gene': 'LOC105375323', 'score': 0.39}]