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
ENST00000371477 [[44355261, 44355605], [44358004, 44358108], [44360403, 44360565], [44361182, 44361310], [44364077, 44364177], [44371545, 44371764], [44374059, 44374204], [44376180, 44376369], [44387185, 44387334], [44390383, 44390546], [44392155, 44392320], [44393839, 44393920], [44394218, 44394461], [44397449, 44397647], [44413391, 44413604], [44414343, 44418163]] [[44355560, 44355605], [44358004, 44358108], [44360403, 44360565], [44361182, 44361310], [44364077, 44364177], [44371545, 44371764], [44374059, 44374204], [44376180, 44376369], [44387185, 44387334], [44390383, 44390546], [44392155, 44392320], [44393839, 44393920], [44394218, 44394461], [44397449, 44397647], [44413391, 44413604], [44414343, 44414448]]
NM_001253 [[44355250, 44355605], [44358004, 44358108], [44360403, 44360565], [44361182, 44361310], [44364077, 44364177], [44371545, 44371764], [44374059, 44374204], [44376180, 44376369], [44387185, 44387334], [44390383, 44390546], [44392155, 44392320], [44393839, 44393920], [44394218, 44394461], [44397449, 44397647], [44413391, 44413604], [44414343, 44418161]] [[44355560, 44355605], [44358004, 44358108], [44360403, 44360565], [44361182, 44361310], [44364077, 44364177], [44371545, 44371764], [44374059, 44374204], [44376180, 44376369], [44387185, 44387334], [44390383, 44390546], [44392155, 44392320], [44393839, 44393920], [44394218, 44394461], [44397449, 44397647], [44413391, 44413604], [44414343, 44414448]]
Promoter
Chrom Start End Description
chr6 44355257 44355315 CAGE_peak_2_at_CDC5L_5end
chr6 44355325 44355340 CAGE_peak_4_at_CDC5L_5end
chr6 44355423 44355470 CAGE_peak_1_at_CDC5L_5end
chr6 44355478 44355489 CAGE_peak_5_at_CDC5L_5end
chr6 44355499 44355514 CAGE_peak_3_at_CDC5L_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I044415 44415402 44416863 0.64 [{'connected_gene': 'CDC5L', 'score': 11.02}, {'connected_gene': 'AARS2', 'score': 10.35}, {'connected_gene': 'GC06P044423', 'score': 0.44}, {'connected_gene': 'GC06P044424', 'score': 0.44}]
chr6 GH06I044386 44386371 44389118 2.08 [{'connected_gene': 'CDC5L', 'score': 562.28}, {'connected_gene': 'GTPBP2', 'score': 32.71}, {'connected_gene': 'POLH', 'score': 13.68}, {'connected_gene': 'RPS2P29', 'score': 11.35}, {'connected_gene': 'ABCC10', 'score': 9.74}, {'connected_gene': 'GC06P044423', 'score': 0.28}, {'connected_gene': 'GC06P044424', 'score': 0.28}]
chr6 GH06I044451 44451800 44453790 0.9 [{'connected_gene': 'CDC5L', 'score': 7.28}, {'connected_gene': 'GC06P044450', 'score': 0.77}, {'connected_gene': 'GC06M044459', 'score': 0.44}]
chr6 GH06I044381 44381500 44382461 0.87 [{'connected_gene': 'CDC5L', 'score': 0.44}, {'connected_gene': 'GC06P044361', 'score': 0.34}]
chr6 GH06I045376 45376037 45379373 2.09 [{'connected_gene': 'SUPT3H', 'score': 577.52}, {'connected_gene': 'RUNX2', 'score': 10.69}, {'connected_gene': 'CDC5L', 'score': 10.52}, {'connected_gene': 'GC06P045353', 'score': 0.34}]
chr6 GH06I044446 44446564 44447726 0.86 [{'connected_gene': 'SUPT3H', 'score': 10.06}, {'connected_gene': 'GC06P044450', 'score': 0.77}, {'connected_gene': 'MIR4642', 'score': 0.39}, {'connected_gene': 'CDC5L', 'score': 0.22}]
chr6 GH06I043765 43765639 43777165 2.33 [{'connected_gene': 'VEGFA', 'score': 557.81}, {'connected_gene': 'GC06P043771', 'score': 550.77}, {'connected_gene': 'GC06P043770', 'score': 550.77}, {'connected_gene': 'ENSG00000272114', 'score': 550.77}, {'connected_gene': 'POLH', 'score': 52.61}, {'connected_gene': 'ZNF318', 'score': 38.24}, {'connected_gene': 'GTPBP2', 'score': 37.55}, {'connected_gene': 'RPS2P29', 'score': 33.41}, {'connected_gene': 'RRP36', 'score': 30.97}, {'connected_gene': 'XPO5', 'score': 29.72}, {'connected_gene': 'POLR1C', 'score': 23.44}, {'connected_gene': 'YIPF3', 'score': 11.42}, {'connected_gene': 'SLC35B2', 'score': 10.76}, {'connected_gene': 'RPL24P4', 'score': 10.61}, {'connected_gene': 'ENSG00000271754', 'score': 10.53}, {'connected_gene': 'CDC5L', 'score': 9.98}, {'connected_gene': 'ABCC10', 'score': 9.78}, {'connected_gene': 'PTK7', 'score': 9.68}, {'connected_gene': 'LOC105375070', 'score': 0.31}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6 GH06I044414 44414784 44414793 0.2 [{'connected_gene': 'AARS2', 'score': 10.35}, {'connected_gene': 'GC06P044423', 'score': 0.44}, {'connected_gene': 'GC06P044424', 'score': 0.44}, {'connected_gene': 'CDC5L', 'score': 0.31}]
chr6 GH06I044340 44340040 44340219 0.62 [{'connected_gene': 'AARS2', 'score': 11.71}, {'connected_gene': 'TMEM151B', 'score': 11.68}, {'connected_gene': 'NFKBIE', 'score': 11.67}, {'connected_gene': 'SLC35B2', 'score': 11.27}, {'connected_gene': 'CDC5L', 'score': 11.2}, {'connected_gene': 'SPATS1', 'score': 0.77}, {'connected_gene': 'GC06M044325', 'score': 0.39}, {'connected_gene': 'ENSG00000272442', 'score': 0.2}]
chr6 GH06I044312 44312135 44313973 2.13 [{'connected_gene': 'AARS2', 'score': 562.2}, {'connected_gene': 'ZNF318', 'score': 45.54}, {'connected_gene': 'ABCC10', 'score': 33.62}, {'connected_gene': 'RPS2P29', 'score': 32.97}, {'connected_gene': 'POLH', 'score': 28.46}, {'connected_gene': 'GTPBP2', 'score': 27.24}, {'connected_gene': 'POLR1C', 'score': 26.23}, {'connected_gene': 'XPO5', 'score': 23.88}, {'connected_gene': 'RPL34P14', 'score': 19.6}, {'connected_gene': 'ENSG00000271754', 'score': 18.56}, {'connected_gene': 'MYMX', 'score': 12.67}, {'connected_gene': 'CDC5L', 'score': 11.16}, {'connected_gene': 'ENSG00000271970', 'score': 11.12}, {'connected_gene': 'YIPF3', 'score': 10.01}, {'connected_gene': 'TMEM151B', 'score': 9.51}, {'connected_gene': 'TCTE1', 'score': 0.37}, {'connected_gene': 'ENSG00000272442', 'score': 0.28}]
chr6 GH06I044056 44056241 44068274 1.86 [{'connected_gene': 'POLH', 'score': 33.72}, {'connected_gene': 'GTPBP2', 'score': 33.16}, {'connected_gene': 'NFKBIE', 'score': 30.61}, {'connected_gene': 'ZNF318', 'score': 22.8}, {'connected_gene': 'MRPL14', 'score': 17.02}, {'connected_gene': 'TMEM63B', 'score': 16.44}, {'connected_gene': 'VEGFA', 'score': 13.18}, {'connected_gene': 'SLC35B2', 'score': 11.51}, {'connected_gene': 'CDC5L', 'score': 10.55}, {'connected_gene': 'ABCC10', 'score': 10.48}, {'connected_gene': 'AARS2', 'score': 9.47}, {'connected_gene': 'MAD2L1BP', 'score': 2.23}, {'connected_gene': 'GC06M044069', 'score': 0.39}, {'connected_gene': 'LOC101929705', 'score': 0.39}, {'connected_gene': 'GC06P044013', 'score': 0.25}]
chr6 GH06I043701 43701321 43704478 1.49 [{'connected_gene': 'POLH', 'score': 51.32}, {'connected_gene': 'ZNF318', 'score': 49.8}, {'connected_gene': 'GTPBP2', 'score': 45.41}, {'connected_gene': 'XPO5', 'score': 29.77}, {'connected_gene': 'POLR1C', 'score': 23.46}, {'connected_gene': 'RPS2P29', 'score': 21.81}, {'connected_gene': 'ABCC10', 'score': 12.97}, {'connected_gene': 'BICRAL', 'score': 12.41}, {'connected_gene': 'CUL7', 'score': 12.19}, {'connected_gene': 'RRP36', 'score': 11.37}, {'connected_gene': 'RSPH9', 'score': 11.27}, {'connected_gene': 'MAD2L1BP', 'score': 11.01}, {'connected_gene': 'CUL9', 'score': 10.94}, {'connected_gene': 'RPL24P4', 'score': 10.61}, {'connected_gene': 'VEGFA', 'score': 10.56}, {'connected_gene': 'ENSG00000271754', 'score': 10.55}, {'connected_gene': 'AARS2', 'score': 10.33}, {'connected_gene': 'CDC5L', 'score': 9.98}, {'connected_gene': 'LOC100132242', 'score': 0.77}, {'connected_gene': 'GC06P043698', 'score': 0.77}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6 GH06I044245 44245048 44250046 2.36 [{'connected_gene': 'HSP90AB1', 'score': 556.79}, {'connected_gene': 'ZNF318', 'score': 128.81}, {'connected_gene': 'POLH', 'score': 109.82}, {'connected_gene': 'GTPBP2', 'score': 104.43}, {'connected_gene': 'ABCC10', 'score': 87.01}, {'connected_gene': 'RPS2P29', 'score': 76.96}, {'connected_gene': 'POLR1C', 'score': 54.86}, {'connected_gene': 'AARS2', 'score': 41.52}, {'connected_gene': 'YIPF3', 'score': 31.99}, {'connected_gene': 'CDC5L', 'score': 31.95}, {'connected_gene': 'XPO5', 'score': 31.41}, {'connected_gene': 'RPL34P14', 'score': 21.46}, {'connected_gene': 'ENSG00000271970', 'score': 21.1}, {'connected_gene': 'SLC35B2', 'score': 19.44}, {'connected_gene': 'ENSG00000271754', 'score': 18.56}, {'connected_gene': 'MYMX', 'score': 12.77}, {'connected_gene': 'SLC29A1', 'score': 5.2}, {'connected_gene': 'MIR4647', 'score': 0.44}]
chr6 GH06I044176 44176168 44180253 1.05 [{'connected_gene': 'ZNF318', 'score': 13.56}, {'connected_gene': 'CDC5L', 'score': 10.73}, {'connected_gene': 'SLC29A1', 'score': 8.69}, {'connected_gene': 'CAPN11', 'score': 7.62}, {'connected_gene': 'CRIP3', 'score': 4.31}, {'connected_gene': 'LOC105375072', 'score': 0.44}]
chr6 GH06I043713 43713773 43717449 1.38 [{'connected_gene': 'ZNF318', 'score': 28.55}, {'connected_gene': 'XPO5', 'score': 23.15}, {'connected_gene': 'POLR1C', 'score': 19.94}, {'connected_gene': 'CDC5L', 'score': 12.71}, {'connected_gene': 'POLH', 'score': 12.16}, {'connected_gene': 'MRPS18A', 'score': 11.74}, {'connected_gene': 'RSPH9', 'score': 11.16}, {'connected_gene': 'MAD2L1BP', 'score': 11.13}, {'connected_gene': 'GTPBP2', 'score': 11.13}, {'connected_gene': 'RPL34P14', 'score': 9.96}, {'connected_gene': 'NFKBIE', 'score': 9.78}, {'connected_gene': 'SLC35B2', 'score': 9.77}, {'connected_gene': 'TMEM151B', 'score': 9.71}, {'connected_gene': 'LOC100132242', 'score': 0.44}, {'connected_gene': 'ENSG00000236961', 'score': 0.34}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6 GH06I043810 43809707 43815481 1.39 [{'connected_gene': 'ZNF318', 'score': 72.49}, {'connected_gene': 'GTPBP2', 'score': 44.33}, {'connected_gene': 'POLH', 'score': 38.06}, {'connected_gene': 'ABCC10', 'score': 29.28}, {'connected_gene': 'RPS2P29', 'score': 26.11}, {'connected_gene': 'RRP36', 'score': 21.33}, {'connected_gene': 'ENSG00000271970', 'score': 21.14}, {'connected_gene': 'RPL34P14', 'score': 20.27}, {'connected_gene': 'POLR1C', 'score': 19.83}, {'connected_gene': 'PTK7', 'score': 18.23}, {'connected_gene': 'VEGFA', 'score': 12.72}, {'connected_gene': 'AARS2', 'score': 12.14}, {'connected_gene': 'YIPF3', 'score': 11.41}, {'connected_gene': 'RPL7L1', 'score': 11.12}, {'connected_gene': 'CDC5L', 'score': 11.1}, {'connected_gene': 'SLC35B2', 'score': 10.76}, {'connected_gene': 'ENSG00000272223', 'score': 10.49}, {'connected_gene': 'CUL7', 'score': 10.19}, {'connected_gene': 'XPO5', 'score': 10.03}, {'connected_gene': 'LOC105375070', 'score': 0.37}, {'connected_gene': 'LOC105375069', 'score': 0.31}, {'connected_gene': 'GC06P043362', 'score': 0.05}]
chr6 GH06I044007 44007396 44007460 0.59 [{'connected_gene': 'C6orf223', 'score': 2.22}, {'connected_gene': 'CDC5L', 'score': 1.38}, {'connected_gene': 'GC06P044013', 'score': 0.44}, {'connected_gene': 'LOC101929705', 'score': 0.2}]
chr6 GH06I043999 43999661 44007000 2.39 [{'connected_gene': 'C6orf223', 'score': 550.77}, {'connected_gene': 'ZNF318', 'score': 12.18}, {'connected_gene': 'LOC101929705', 'score': 11.18}, {'connected_gene': 'CDC5L', 'score': 11.12}, {'connected_gene': 'RPL34P14', 'score': 10.4}, {'connected_gene': 'CUL7', 'score': 4.93}, {'connected_gene': 'GC06P044013', 'score': 0.44}]
chr6 GH06I044342 44342084 44343200 1.1 [{'connected_gene': 'SPATS1', 'score': 556.86}, {'connected_gene': 'TMEM151B', 'score': 11.68}, {'connected_gene': 'NFKBIE', 'score': 11.67}, {'connected_gene': 'AARS2', 'score': 11.33}, {'connected_gene': 'SLC35B2', 'score': 10.99}, {'connected_gene': 'CDC5L', 'score': 5.49}, {'connected_gene': 'GC06M044325', 'score': 0.37}, {'connected_gene': 'ENSG00000272442', 'score': 0.2}]
chr6 GH06I044439 44439824 44439973 0.46 [{'connected_gene': 'MIR4642', 'score': 0.77}, {'connected_gene': 'GC06P044450', 'score': 0.39}, {'connected_gene': 'CDC5L', 'score': 0.23}]
chr6 GH06I044258 44253544 44253753 0.75 [{'connected_gene': 'MIR4647', 'score': 550.77}, {'connected_gene': 'XPO5', 'score': 17.71}, {'connected_gene': 'POLH', 'score': 13.47}, {'connected_gene': 'ZNF318', 'score': 12.99}, {'connected_gene': 'POLR1C', 'score': 11.75}, {'connected_gene': 'SLC29A1', 'score': 11.67}, {'connected_gene': 'AARS2', 'score': 10.74}, {'connected_gene': 'CDC5L', 'score': 10.07}, {'connected_gene': 'RPS2P29', 'score': 9.69}, {'connected_gene': 'HSP90AB1', 'score': 0.44}]
chr6 GH06I044253 44253384 44253473 0.68 [{'connected_gene': 'MIR4647', 'score': 550.77}, {'connected_gene': 'XPO5', 'score': 17.71}, {'connected_gene': 'POLH', 'score': 13.47}, {'connected_gene': 'ZNF318', 'score': 12.99}, {'connected_gene': 'POLR1C', 'score': 11.75}, {'connected_gene': 'SLC29A1', 'score': 11.67}, {'connected_gene': 'AARS2', 'score': 10.74}, {'connected_gene': 'CDC5L', 'score': 10.07}, {'connected_gene': 'RPS2P29', 'score': 9.69}, {'connected_gene': 'HSP90AB1', 'score': 0.44}]
chr6 GH06I044257 44254744 44254833 0.63 [{'connected_gene': 'MIR4647', 'score': 550.77}, {'connected_gene': 'AARS2', 'score': 22.3}, {'connected_gene': 'ZNF318', 'score': 21.53}, {'connected_gene': 'ABCC10', 'score': 18.23}, {'connected_gene': 'POLH', 'score': 15.55}, {'connected_gene': 'GTPBP2', 'score': 14.7}, {'connected_gene': 'RPL34P14', 'score': 12.93}, {'connected_gene': 'SLC29A1', 'score': 11.66}, {'connected_gene': 'CDC5L', 'score': 10.61}, {'connected_gene': 'SLC35B2', 'score': 0.77}]
chr6 GH06I044256 44254464 44254653 0.66 [{'connected_gene': 'MIR4647', 'score': 550.77}, {'connected_gene': 'AARS2', 'score': 22.3}, {'connected_gene': 'ZNF318', 'score': 21.53}, {'connected_gene': 'ABCC10', 'score': 18.23}, {'connected_gene': 'POLH', 'score': 15.55}, {'connected_gene': 'GTPBP2', 'score': 14.7}, {'connected_gene': 'RPL34P14', 'score': 12.93}, {'connected_gene': 'SLC29A1', 'score': 11.66}, {'connected_gene': 'CDC5L', 'score': 10.61}, {'connected_gene': 'SLC35B2', 'score': 0.77}]
chr6 GH06I044254 44254684 44254713 0.64 [{'connected_gene': 'MIR4647', 'score': 550.77}, {'connected_gene': 'AARS2', 'score': 22.3}, {'connected_gene': 'ZNF318', 'score': 21.53}, {'connected_gene': 'ABCC10', 'score': 18.23}, {'connected_gene': 'POLH', 'score': 15.55}, {'connected_gene': 'GTPBP2', 'score': 14.7}, {'connected_gene': 'RPL34P14', 'score': 12.93}, {'connected_gene': 'SLC29A1', 'score': 11.66}, {'connected_gene': 'CDC5L', 'score': 10.61}, {'connected_gene': 'SLC35B2', 'score': 0.77}]
chr6 GH06I044071 44071244 44077836 2.08 [{'connected_gene': 'GC06M044069', 'score': 550.77}, {'connected_gene': 'LOC101929705', 'score': 550.77}, {'connected_gene': 'ENSG00000231881', 'score': 550.77}, {'connected_gene': 'ZNF318', 'score': 30.86}, {'connected_gene': 'GTPBP2', 'score': 30.12}, {'connected_gene': 'POLH', 'score': 28.64}, {'connected_gene': 'ABCC10', 'score': 26.14}, {'connected_gene': 'VEGFA', 'score': 14.42}, {'connected_gene': 'RPS2P29', 'score': 13.48}, {'connected_gene': 'RPL34P14', 'score': 12.93}, {'connected_gene': 'AARS2', 'score': 11.63}, {'connected_gene': 'YIPF3', 'score': 11.38}, {'connected_gene': 'SLC35B2', 'score': 10.58}, {'connected_gene': 'CDC5L', 'score': 10.55}, {'connected_gene': 'SPATS1', 'score': 9.76}, {'connected_gene': 'PTK7', 'score': 9.68}, {'connected_gene': 'MRPL14', 'score': 7.3}, {'connected_gene': 'TMEM63B', 'score': 5.29}, {'connected_gene': 'NFKBIE', 'score': 4.84}, {'connected_gene': 'C6orf223', 'score': 1.86}, {'connected_gene': 'MAD2L1BP', 'score': 1.47}]
chr6 GH06I044428 44428784 44428933 0.31 [{'connected_gene': 'GC06P044423', 'score': 0.44}, {'connected_gene': 'MIR4642', 'score': 0.44}, {'connected_gene': 'GC06P044424', 'score': 0.44}, {'connected_gene': 'CDC5L', 'score': 0.26}]

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