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
ENST00000464615 [[73097354, 73097713], [73100965, 73101064]] None
ENST00000265758 [[73097897, 73098003], [73098096, 73098134], [73100965, 73101061], [73101147, 73101230], [73101328, 73101425], [73105245, 73105342], [73106925, 73106976], [73107658, 73107744], [73107953, 73107999], [73108321, 73108380], [73111934, 73112024], [73112161, 73112542]] [[73097955, 73098003], [73098096, 73098134], [73100965, 73101061], [73101147, 73101230], [73101328, 73101425], [73105245, 73105342], [73106925, 73106976], [73107658, 73107744], [73107953, 73107999], [73108321, 73108380], [73111934, 73112024], [73112161, 73112216]]
ENST00000421304 [[73097898, 73098003], [73098096, 73098253], [73100965, 73101061], [73101147, 73101230], [73101328, 73101425]] [[73097955, 73098003], [73098096, 73098138]]
ENST00000432522 [[73097900, 73098003], [73098096, 73098134], [73100965, 73101061], [73101147, 73101230], [73105245, 73105342], [73106925, 73106976], [73107658, 73107744], [73107953, 73107999], [73108321, 73108795]] [[73097955, 73098003], [73098096, 73098134], [73100965, 73101061], [73101147, 73101230], [73105245, 73105342], [73106925, 73106976], [73107658, 73107668]]
ENST00000421744 [[73097902, 73098003], [73098096, 73098134], [73100965, 73101061], [73101147, 73101230], [73106925, 73106976], [73107658, 73107744], [73107953, 73107999], [73108321, 73108380], [73110735, 73111070]] [[73097955, 73098003], [73098096, 73098134], [73100965, 73101061], [73101147, 73101230], [73106925, 73106963]]
ENST00000478670 [[73097926, 73098003], [73098096, 73098134], [73100965, 73101061], [73101147, 73101230], [73106925, 73107203]] None
ENST00000496153 [[73097926, 73098003], [73098096, 73098134], [73105245, 73105342], [73106925, 73106976], [73107658, 73107744], [73107953, 73107999], [73108321, 73108431]] None
ENST00000441822 [[73097930, 73098003], [73098096, 73098231], [73100965, 73101061], [73101147, 73101230], [73101328, 73101425], [73105245, 73105342], [73106925, 73106976]] [[73097955, 73098003], [73098096, 73098138]]
ENST00000428163 [[73097936, 73098003], [73098096, 73098134], [73100965, 73101061], [73101147, 73101230], [73101328, 73101425], [73106925, 73106976], [73107658, 73107744], [73107953, 73107999], [73108321, 73108334]] [[73097955, 73098003], [73098096, 73098134], [73100965, 73101061], [73101147, 73101230], [73101328, 73101425], [73106925, 73106976], [73107658, 73107668]]
ENST00000423166 [[73097936, 73098003], [73098096, 73098231], [73100965, 73101061], [73101147, 73101230], [73106925, 73106976], [73107658, 73107744], [73107953, 73107999], [73108321, 73108380], [73111934, 73112024], [73117708, 73119491]] [[73097983, 73098003], [73098096, 73098231], [73100965, 73101061], [73101147, 73101230], [73106925, 73106963]]
ENST00000436944 [[73097936, 73098003], [73098096, 73098231], [73100965, 73101061], [73101147, 73101230], [73106925, 73106976], [73107658, 73107744], [73107953, 73107999], [73108321, 73108380], [73111934, 73112024], [73117708, 73119491]] [[73097955, 73098003], [73098096, 73098138]]
ENST00000463307 [[73097938, 73098003], [73098096, 73098134], [73100965, 73101061], [73101147, 73101230], [73101328, 73101425], [73105245, 73105342], [73106925, 73107744], [73107953, 73107999], [73108321, 73108380], [73111934, 73112024], [73112161, 73112486]] None
ENST00000430270 [[73097955, 73098003], [73098096, 73098330], [73100965, 73101061], [73101147, 73101230], [73101328, 73101425], [73105245, 73105342], [73106925, 73106976], [73107658, 73107744], [73107953, 73107999], [73108321, 73108380], [73111934, 73112024], [73112161, 73112434]] [[73097955, 73098003], [73098096, 73098138]]
ENST00000423497 [[73097955, 73098003], [73098096, 73098134], [73100965, 73101061], [73101147, 73101230], [73101328, 73101425], [73105245, 73105342], [73106925, 73106976], [73107658, 73107744], [73107953, 73107999], [73108321, 73108380], [73111795, 73111846], [73111934, 73112024], [73112161, 73112538]] [[73097955, 73098003], [73098096, 73098134], [73100965, 73101061], [73101147, 73101230], [73101328, 73101425], [73105245, 73105342], [73106925, 73106976], [73107658, 73107744], [73107953, 73107999], [73108321, 73108380], [73111795, 73111846], [73111934, 73112024], [73112161, 73112216]]
ENST00000487006 [[73097960, 73098003], [73098096, 73098134], [73100965, 73101061], [73101147, 73101230], [73101328, 73101425], [73106925, 73106976], [73107658, 73107881]] None
ENST00000430446 [[73101149, 73101230], [73106925, 73106976], [73107658, 73107744], [73107953, 73107999], [73108321, 73108380], [73111934, 73112024], [73112161, 73112486]] [[73101149, 73101230], [73106925, 73106963]]
ENST00000442099 [[73105245, 73105342], [73106925, 73106976], [73107658, 73107744], [73107953, 73107999], [73111934, 73112024], [73112161, 73112482]] [[73105245, 73105342], [73106925, 73106976], [73107658, 73107744], [73107953, 73107999], [73111934, 73112024], [73112161, 73112176]]
ENST00000453316 [[73106925, 73106976], [73111934, 73112024], [73112161, 73112472]] [[73106925, 73106976], [73111934, 73112024], [73112161, 73112216]]
ENST00000471215 [[73108443, 73112024], [73112161, 73112466]] None
Promoter
Chrom Start End Description
chr7 73097890 73097954 CAGE_peak_1_at_WBSCR22_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I073518 73518746 73523293 2.09 [{'connected_gene': 'BAZ1B', 'score': 550.77}, {'connected_gene': 'TBL2', 'score': 29.35}, {'connected_gene': 'POM121B', 'score': 27.93}, {'connected_gene': 'STAG3L3', 'score': 27.72}, {'connected_gene': 'POM121', 'score': 25.52}, {'connected_gene': 'FKBP6', 'score': 15.89}, {'connected_gene': 'MIR590', 'score': 15.0}, {'connected_gene': 'BUD23', 'score': 14.63}, {'connected_gene': 'MLXIPL', 'score': 13.26}, {'connected_gene': 'NSUN5P2', 'score': 13.11}, {'connected_gene': 'BCL7B', 'score': 13.09}, {'connected_gene': 'NSUN5', 'score': 12.24}, {'connected_gene': 'TYW1B', 'score': 4.5}, {'connected_gene': 'RNU6-1198P', 'score': 0.39}]
chr7 GH07I073696 73696645 73697249 0.2 [{'connected_gene': 'FKBP6', 'score': 4.72}, {'connected_gene': 'LOC105375350', 'score': 0.44}, {'connected_gene': 'GC07M073690', 'score': 0.39}, {'connected_gene': 'BUD23', 'score': 0.39}, {'connected_gene': 'DNAJC30', 'score': 0.39}]
chr7 GH07I073682 73682083 73684601 2.02 [{'connected_gene': 'DNAJC30', 'score': 557.78}, {'connected_gene': 'BUD23', 'score': 550.77}, {'connected_gene': 'PIR49908', 'score': 550.77}, {'connected_gene': 'RFC2', 'score': 12.5}, {'connected_gene': 'ABHD11-AS1', 'score': 10.54}, {'connected_gene': 'NSUN5P2', 'score': 10.51}, {'connected_gene': 'POM121', 'score': 10.43}, {'connected_gene': 'POM121B', 'score': 10.38}, {'connected_gene': 'VPS37D', 'score': 7.74}]
chr7 GH07I073698 73698425 73699179 0.46 [{'connected_gene': 'DNAJC30', 'score': 6.84}, {'connected_gene': 'LOC105375350', 'score': 0.77}, {'connected_gene': 'GC07M073690', 'score': 0.44}, {'connected_gene': 'BUD23', 'score': 0.37}]
chr7 GH07I073606 73606714 73607791 0.89 [{'connected_gene': 'STX1A', 'score': 13.11}, {'connected_gene': 'VPS37D', 'score': 12.59}, {'connected_gene': 'BUD23', 'score': 12.05}, {'connected_gene': 'DNAJC30', 'score': 12.05}, {'connected_gene': 'TBL2', 'score': 12.03}, {'connected_gene': 'RNU6-1198P', 'score': 10.61}, {'connected_gene': 'GTF2IP4', 'score': 4.25}, {'connected_gene': 'ENSG00000274080', 'score': 0.77}, {'connected_gene': 'GC07P073590', 'score': 0.37}, {'connected_gene': 'MLXIPL', 'score': 0.37}]
chr7 GH07I074635 74635041 74637030 1.6 [{'connected_gene': 'PMS2P3', 'score': 65.99}, {'connected_gene': 'STAG3L1', 'score': 56.47}, {'connected_gene': 'NSUN5P1', 'score': 52.48}, {'connected_gene': 'MIR590', 'score': 43.34}, {'connected_gene': 'SPDYE5', 'score': 33.79}, {'connected_gene': 'METTL27', 'score': 32.15}, {'connected_gene': 'GTF2IRD2', 'score': 29.47}, {'connected_gene': 'GTF2IRD2B', 'score': 28.13}, {'connected_gene': 'LOC101926943', 'score': 21.36}, {'connected_gene': 'BUD23', 'score': 12.03}, {'connected_gene': 'PMS2P5', 'score': 11.95}, {'connected_gene': 'TRIM73', 'score': 10.06}, {'connected_gene': 'SPDYE12P', 'score': 9.73}, {'connected_gene': 'PMS2P2', 'score': 9.11}, {'connected_gene': 'ENSG00000279005', 'score': 0.77}, {'connected_gene': 'GTF2I', 'score': 0.34}]
chr7 GH07I073602 73602604 73603821 0.59 [{'connected_gene': 'MLXIPL', 'score': 20.71}, {'connected_gene': 'BCL7B', 'score': 15.07}, {'connected_gene': 'STX1A', 'score': 12.99}, {'connected_gene': 'BUD23', 'score': 12.81}, {'connected_gene': 'DNAJC30', 'score': 12.8}, {'connected_gene': 'VPS37D', 'score': 12.43}, {'connected_gene': 'ENSG00000274080', 'score': 0.44}, {'connected_gene': 'GC07P073590', 'score': 0.39}]
chr7 GH07I073601 73600601 73601600 0.54 [{'connected_gene': 'MLXIPL', 'score': 21.46}, {'connected_gene': 'VPS37D', 'score': 12.13}, {'connected_gene': 'BUD23', 'score': 11.92}, {'connected_gene': 'DNAJC30', 'score': 11.92}, {'connected_gene': 'GC07P073590', 'score': 0.39}, {'connected_gene': 'ENSG00000274080', 'score': 0.39}]
chr7 GH07I073791 73791654 73794675 1.36 [{'connected_gene': 'STAG3L3', 'score': 16.54}, {'connected_gene': 'TBL2', 'score': 16.01}, {'connected_gene': 'FKBP6', 'score': 15.85}, {'connected_gene': 'BUD23', 'score': 14.67}, {'connected_gene': 'POM121B', 'score': 13.65}, {'connected_gene': 'POM121', 'score': 11.11}, {'connected_gene': 'METTL27', 'score': 9.64}, {'connected_gene': 'ABHD11', 'score': 4.79}, {'connected_gene': 'CLDN4', 'score': 0.44}, {'connected_gene': 'CLDN3', 'score': 0.34}]
chr7 GH07I073991 73991745 73992942 1 [{'connected_gene': 'STAG3L3', 'score': 26.6}, {'connected_gene': 'POM121B', 'score': 15.86}, {'connected_gene': 'MIR590', 'score': 14.71}, {'connected_gene': 'BAZ1B', 'score': 10.97}, {'connected_gene': 'FKBP6', 'score': 10.39}, {'connected_gene': 'NSUN5', 'score': 9.89}, {'connected_gene': 'BUD23', 'score': 9.88}, {'connected_gene': 'ENSG00000261467', 'score': 0.44}, {'connected_gene': 'ELN', 'score': 0.28}]
chr7 GH07I072827 72827200 72831611 2.26 [{'connected_gene': 'TYW1B', 'score': 585.01}, {'connected_gene': 'PIR36920', 'score': 550.77}, {'connected_gene': 'SBDSP1', 'score': 550.77}, {'connected_gene': 'STAG3L3', 'score': 49.99}, {'connected_gene': 'POM121B', 'score': 40.61}, {'connected_gene': 'TBL2', 'score': 38.44}, {'connected_gene': 'POM121', 'score': 37.02}, {'connected_gene': 'FKBP6', 'score': 33.08}, {'connected_gene': 'NSUN5P2', 'score': 25.54}, {'connected_gene': 'BUD23', 'score': 24.5}, {'connected_gene': 'NSUN5', 'score': 20.03}, {'connected_gene': 'PMS2P7', 'score': 19.39}, {'connected_gene': 'GTF2IRD2P1', 'score': 12.55}, {'connected_gene': 'BAZ1B', 'score': 10.35}, {'connected_gene': 'GTF2IP4', 'score': 6.23}]
chr7 GH07I073890 73890001 73890801 1.3 [{'connected_gene': 'NSUN5P2', 'score': 75.48}, {'connected_gene': 'STAG3L3', 'score': 71.3}, {'connected_gene': 'BAZ1B', 'score': 65.07}, {'connected_gene': 'GTF2IRD2', 'score': 53.04}, {'connected_gene': 'METTL27', 'score': 49.92}, {'connected_gene': 'POM121B', 'score': 48.63}, {'connected_gene': 'MIR590', 'score': 47.75}, {'connected_gene': 'GTF2IRD2P1', 'score': 41.79}, {'connected_gene': 'LOC101926943', 'score': 29.51}, {'connected_gene': 'TBL2', 'score': 22.59}, {'connected_gene': 'BUD23', 'score': 12.09}, {'connected_gene': 'PMS2P7', 'score': 11.41}, {'connected_gene': 'ELN', 'score': 10.17}, {'connected_gene': 'FKBP6', 'score': 9.97}, {'connected_gene': 'NSUN5', 'score': 9.75}, {'connected_gene': 'GC07M073860', 'score': 0.31}, {'connected_gene': 'GC07M073911', 'score': 0.22}]
chr7 GH07I073645 73645067 73648757 1.36 [{'connected_gene': 'NSUN5P2', 'score': 41.6}, {'connected_gene': 'POM121', 'score': 39.02}, {'connected_gene': 'STAG3L3', 'score': 36.59}, {'connected_gene': 'GTF2IRD2P1', 'score': 33.82}, {'connected_gene': 'MIR590', 'score': 30.2}, {'connected_gene': 'METTL27', 'score': 27.57}, {'connected_gene': 'POM121B', 'score': 21.37}, {'connected_gene': 'BAZ1B', 'score': 16.1}, {'connected_gene': 'VPS37D', 'score': 13.33}, {'connected_gene': 'BUD23', 'score': 12.39}, {'connected_gene': 'DNAJC30', 'score': 12.39}, {'connected_gene': 'MLXIPL', 'score': 9.54}, {'connected_gene': 'ABHD11', 'score': 2.51}, {'connected_gene': 'STX1A', 'score': 1.63}, {'connected_gene': 'GC07P073664', 'score': 0.37}]
chr7 GH07I073667 73667400 73668650 2.01 [{'connected_gene': 'VPS37D', 'score': 557.6}, {'connected_gene': 'STAG3L3', 'score': 27.01}, {'connected_gene': 'POM121B', 'score': 23.33}, {'connected_gene': 'POM121', 'score': 23.08}, {'connected_gene': 'FKBP6', 'score': 19.99}, {'connected_gene': 'TBL2', 'score': 16.1}, {'connected_gene': 'BUD23', 'score': 14.9}, {'connected_gene': 'GTF2IRD2P1', 'score': 13.27}, {'connected_gene': 'NSUN5P2', 'score': 11.89}, {'connected_gene': 'MIR590', 'score': 11.19}, {'connected_gene': 'METTL27', 'score': 10.04}, {'connected_gene': 'PIR49908', 'score': 0.39}]
chr7 GH07I073600 73600201 73600400 0.46 [{'connected_gene': 'VPS37D', 'score': 12.13}, {'connected_gene': 'BUD23', 'score': 11.92}, {'connected_gene': 'DNAJC30', 'score': 11.92}, {'connected_gene': 'GC07P073590', 'score': 0.44}, {'connected_gene': 'ENSG00000274080', 'score': 0.39}, {'connected_gene': 'MLXIPL', 'score': 0.34}]
chr7 GH07I073700 73700308 73700532 0.51 [{'connected_gene': 'VPS37D', 'score': 6.72}, {'connected_gene': 'LOC105375350', 'score': 0.77}, {'connected_gene': 'GC07M073690', 'score': 0.44}, {'connected_gene': 'STX1A', 'score': 0.37}, {'connected_gene': 'BUD23', 'score': 0.37}, {'connected_gene': 'DNAJC30', 'score': 0.37}]
chr7 GH07I073855 73855074 73856200 1.14 [{'connected_gene': 'METTL27', 'score': 64.34}, {'connected_gene': 'BAZ1B', 'score': 15.79}, {'connected_gene': 'BUD23', 'score': 10.82}, {'connected_gene': 'DNAJC30', 'score': 10.82}, {'connected_gene': 'VPS37D', 'score': 10.63}, {'connected_gene': 'TMEM270', 'score': 0.44}, {'connected_gene': 'GC07M073847', 'score': 0.44}]
chr7 GH07I073849 73849009 73852901 1.68 [{'connected_gene': 'METTL27', 'score': 77.65}, {'connected_gene': 'ELN', 'score': 11.35}, {'connected_gene': 'BUD23', 'score': 10.94}, {'connected_gene': 'DNAJC30', 'score': 10.94}, {'connected_gene': 'VPS37D', 'score': 10.63}, {'connected_gene': 'BCL7B', 'score': 1.58}, {'connected_gene': 'GC07M073847', 'score': 0.77}, {'connected_gene': 'TMEM270', 'score': 0.39}]
chr7 GH07I073825 73825719 73834154 1.94 [{'connected_gene': 'CLDN4', 'score': 550.29}, {'connected_gene': 'METTL27', 'score': 90.61}, {'connected_gene': 'STAG3L3', 'score': 16.17}, {'connected_gene': 'POM121', 'score': 14.71}, {'connected_gene': 'POM121B', 'score': 13.93}, {'connected_gene': 'TMEM270', 'score': 13.21}, {'connected_gene': 'NSUN5P2', 'score': 12.9}, {'connected_gene': 'BUD23', 'score': 11.29}, {'connected_gene': 'DNAJC30', 'score': 11.29}, {'connected_gene': 'NSUN5', 'score': 11.06}, {'connected_gene': 'VPS37D', 'score': 11.04}, {'connected_gene': 'TBL2', 'score': 10.23}, {'connected_gene': 'ABHD11-AS1', 'score': 7.38}, {'connected_gene': 'ABHD11', 'score': 4.6}, {'connected_gene': 'GC07P073835', 'score': 0.44}]
chr7 GH07I073701 73700947 73707770 1.32 [{'connected_gene': 'LOC105375350', 'score': 550.77}, {'connected_gene': 'VPS37D', 'score': 7.28}, {'connected_gene': 'DNAJC30', 'score': 6.92}, {'connected_gene': 'TBL2', 'score': 5.02}, {'connected_gene': 'GC07M073690', 'score': 0.77}, {'connected_gene': 'STX1A', 'score': 0.37}, {'connected_gene': 'BUD23', 'score': 0.34}]
chr7 GH07I073612 73612173 73614791 1.07 [{'connected_gene': 'ENSG00000274080', 'score': 550.77}, {'connected_gene': 'BCL7B', 'score': 14.58}, {'connected_gene': 'STX1A', 'score': 13.12}, {'connected_gene': 'VPS37D', 'score': 12.61}, {'connected_gene': 'BUD23', 'score': 12.51}, {'connected_gene': 'DNAJC30', 'score': 12.51}, {'connected_gene': 'TBL2', 'score': 12.02}, {'connected_gene': 'RNU6-1198P', 'score': 11.03}, {'connected_gene': 'METTL27', 'score': 10.85}, {'connected_gene': 'PMS2P7', 'score': 10.6}, {'connected_gene': 'NSUN5P2', 'score': 10.11}, {'connected_gene': 'MLXIPL', 'score': 6.91}, {'connected_gene': 'FKBP6', 'score': 4.69}, {'connected_gene': 'GTF2IP4', 'score': 4.33}, {'connected_gene': 'GC07P073590', 'score': 0.34}]
chr7 GH07I073665 73664671 73666060 1.11 [{'connected_gene': 'GC07P073664', 'score': 550.77}, {'connected_gene': 'VPS37D', 'score': 7.72}, {'connected_gene': 'BUD23', 'score': 5.87}]
chr7 GH07I073843 73843726 73846855 1.01 [{'connected_gene': 'GC07M073846', 'score': 550.77}, {'connected_gene': 'GC07M073847', 'score': 550.77}, {'connected_gene': 'METTL27', 'score': 92.24}, {'connected_gene': 'VPS37D', 'score': 11.74}, {'connected_gene': 'ELN', 'score': 11.52}, {'connected_gene': 'BUD23', 'score': 10.94}, {'connected_gene': 'DNAJC30', 'score': 10.94}]

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