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
ENST00000368685 [[153631129, 153631362], [153631613, 153631660], [153631923, 153632042], [153633675, 153634306]] [[153631219, 153631362], [153631613, 153631660], [153631923, 153632042], [153633675, 153633777]]
ENST00000474959 [[153631187, 153631660], [153631923, 153632042], [153633675, 153633726]] None
ENST00000462880 [[153631189, 153631362], [153631923, 153632042], [153633675, 153634305]] None
ENST00000478558 [[153631202, 153632042], [153633675, 153634040]] None
NR_052020 [[153631129, 153631348], [153631923, 153632042], [153633675, 153634328]] None
NR_052019 [[153631129, 153631362], [153631923, 153632042], [153633675, 153634328]] None
NM_012437 [[153631129, 153631362], [153631613, 153631660], [153631923, 153632042], [153633675, 153634328]] [[153631219, 153631362], [153631613, 153631660], [153631923, 153632042], [153633675, 153633777]]
Promoter
Chrom Start End Description
chr1 153631163 153631217 CAGE_peak_1_at_SNAPIN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I153731 153731995 153733212 0.69 [{'connected_gene': 'DENND4B', 'score': 11.96}, {'connected_gene': 'ILF2', 'score': 11.58}, {'connected_gene': 'NPR1', 'score': 11.49}, {'connected_gene': 'SNAPIN', 'score': 10.58}, {'connected_gene': 'C1orf189', 'score': 8.5}, {'connected_gene': 'INTS3', 'score': 0.77}, {'connected_gene': 'ENSG00000243613', 'score': 0.37}]
chr1 GH01I153727 153727377 153731582 2.22 [{'connected_gene': 'INTS3', 'score': 550.77}, {'connected_gene': 'UBAP2L', 'score': 36.87}, {'connected_gene': 'ILF2', 'score': 34.09}, {'connected_gene': 'S100A1', 'score': 17.97}, {'connected_gene': 'SLC27A3', 'score': 17.4}, {'connected_gene': 'CRTC2', 'score': 11.91}, {'connected_gene': 'NPR1', 'score': 11.49}, {'connected_gene': 'ENSG00000233222', 'score': 11.36}, {'connected_gene': 'ENSG00000243613', 'score': 11.36}, {'connected_gene': 'CHTOP', 'score': 11.29}, {'connected_gene': 'SNAPIN', 'score': 10.58}, {'connected_gene': 'DENND4B', 'score': 10.23}, {'connected_gene': 'C1orf189', 'score': 8.5}]
chr1 GH01I153561 153561172 153569950 2.27 [{'connected_gene': 'S100A2', 'score': 552.94}, {'connected_gene': 'S100A6', 'score': 15.88}, {'connected_gene': 'S100A3', 'score': 15.05}, {'connected_gene': 'S100A5', 'score': 12.92}, {'connected_gene': 'ENSG00000238279', 'score': 12.87}, {'connected_gene': 'S100A16', 'score': 12.57}, {'connected_gene': 'S100A13', 'score': 12.27}, {'connected_gene': 'S100A14', 'score': 12.24}, {'connected_gene': 'SNAPIN', 'score': 10.36}, {'connected_gene': 'S100A1', 'score': 10.23}, {'connected_gene': 'CHTOP', 'score': 10.23}, {'connected_gene': 'NPR1', 'score': 9.68}, {'connected_gene': 'S100A9', 'score': 9.64}, {'connected_gene': 'PGLYRP4', 'score': 9.37}, {'connected_gene': 'INTS3', 'score': 9.33}, {'connected_gene': 'ENSG00000233222', 'score': 9.32}, {'connected_gene': 'ENSG00000243613', 'score': 9.32}, {'connected_gene': 'RNU6-160P', 'score': 9.16}, {'connected_gene': 'S100A4', 'score': 6.77}, {'connected_gene': 'S100A7L2', 'score': 2.46}, {'connected_gene': 'PGLYRP3', 'score': 1.35}]
chr1 GH01I153733 153733766 153735980 0.99 [{'connected_gene': 'S100A1', 'score': 23.78}, {'connected_gene': 'ILF2', 'score': 11.58}, {'connected_gene': 'NPR1', 'score': 11.48}, {'connected_gene': 'SNAPIN', 'score': 10.57}, {'connected_gene': 'CHTOP', 'score': 10.04}, {'connected_gene': 'S100A13', 'score': 10.04}, {'connected_gene': 'C1orf189', 'score': 8.5}, {'connected_gene': 'INTS3', 'score': 0.44}, {'connected_gene': 'ENSG00000243613', 'score': 0.37}]
chr1 GH01I153648 153648785 153650448 0.88 [{'connected_gene': 'S100A1', 'score': 51.0}, {'connected_gene': 'SNAPIN', 'score': 0.44}, {'connected_gene': 'ENSG00000272030', 'score': 0.37}]
chr1 GH01I154384 154384918 154387432 1.67 [{'connected_gene': 'ATP8B2', 'score': 17.19}, {'connected_gene': 'IL6R-AS1', 'score': 12.49}, {'connected_gene': 'RNU7-57P', 'score': 11.16}, {'connected_gene': 'UBE2Q1-AS1', 'score': 10.5}, {'connected_gene': 'UBE2Q1', 'score': 10.5}, {'connected_gene': 'SHE', 'score': 10.34}, {'connected_gene': 'TDRD10', 'score': 10.34}, {'connected_gene': 'C1orf189', 'score': 10.08}, {'connected_gene': 'SNAPIN', 'score': 4.37}, {'connected_gene': 'UBAP2L', 'score': 4.01}, {'connected_gene': 'CRTC2', 'score': 3.23}, {'connected_gene': 'GATAD2B', 'score': 2.35}, {'connected_gene': 'RPS27', 'score': 2.32}, {'connected_gene': 'DENND4B', 'score': 1.92}, {'connected_gene': 'ENSG00000237920', 'score': 0.44}, {'connected_gene': 'IL6R', 'score': 0.37}]
chr1 GH01I153577 153577722 153579717 0.77 [{'connected_gene': 'S100A16', 'score': 11.49}, {'connected_gene': 'S100A14', 'score': 11.47}, {'connected_gene': 'S100A1', 'score': 11.29}, {'connected_gene': 'S100A13', 'score': 11.27}, {'connected_gene': 'CHTOP', 'score': 11.27}, {'connected_gene': 'S100A3', 'score': 10.59}, {'connected_gene': 'SNAPIN', 'score': 10.47}, {'connected_gene': 'ILF2', 'score': 10.27}, {'connected_gene': 'NPR1', 'score': 10.22}, {'connected_gene': 'ENSG00000233222', 'score': 9.93}, {'connected_gene': 'ENSG00000243613', 'score': 9.93}, {'connected_gene': 'INTS3', 'score': 9.83}, {'connected_gene': 'PGLYRP4', 'score': 9.3}, {'connected_gene': 'RNU6-160P', 'score': 9.07}, {'connected_gene': 'PIR44602', 'score': 0.44}, {'connected_gene': 'S100A2', 'score': 0.39}]
chr1 GH01I153606 153606662 153618256 2.74 [{'connected_gene': 'S100A16', 'score': 556.78}, {'connected_gene': 'S100A14', 'score': 553.15}, {'connected_gene': 'S100A1', 'score': 34.99}, {'connected_gene': 'SNAPIN', 'score': 10.72}, {'connected_gene': 'ILF2', 'score': 10.44}, {'connected_gene': 'ENSG00000233222', 'score': 9.39}, {'connected_gene': 'ENSG00000243613', 'score': 9.39}, {'connected_gene': 'INTS3', 'score': 9.23}, {'connected_gene': 'S100A13', 'score': 4.77}, {'connected_gene': 'ENSG00000272030', 'score': 4.4}, {'connected_gene': 'S100A6', 'score': 2.92}, {'connected_gene': 'S100A2', 'score': 2.76}, {'connected_gene': 'S100A7L2', 'score': 1.7}, {'connected_gene': 'PGLYRP4', 'score': 1.66}, {'connected_gene': 'PGLYRP3', 'score': 1.55}, {'connected_gene': 'S100A7A', 'score': 1.27}, {'connected_gene': 'GC01P153610', 'score': 0.44}, {'connected_gene': 'GC01M153608', 'score': 0.44}, {'connected_gene': 'GC01M153607', 'score': 0.44}]
chr1 GH01I153961 153961304 153965286 2.58 [{'connected_gene': 'SLC39A1', 'score': 550.77}, {'connected_gene': 'MIR6737', 'score': 550.77}, {'connected_gene': 'ENSG00000282386', 'score': 550.77}, {'connected_gene': 'ILF2', 'score': 21.53}, {'connected_gene': 'CREB3L4', 'score': 15.32}, {'connected_gene': 'UBAP2L', 'score': 12.02}, {'connected_gene': 'RAB13', 'score': 11.96}, {'connected_gene': 'RPS27', 'score': 11.93}, {'connected_gene': 'RPL34P5', 'score': 11.91}, {'connected_gene': 'GATAD2B', 'score': 11.21}, {'connected_gene': 'HAX1', 'score': 8.42}, {'connected_gene': 'C1orf189', 'score': 8.26}, {'connected_gene': 'JTB', 'score': 1.66}, {'connected_gene': 'S100A16', 'score': 1.59}, {'connected_gene': 'SNAPIN', 'score': 1.5}]
chr1 GH01I153632 153632734 153637132 2.09 [{'connected_gene': 'CHTOP', 'score': 571.47}, {'connected_gene': 'ENSG00000271853', 'score': 550.77}, {'connected_gene': 'S100A13', 'score': 550.77}, {'connected_gene': 'ENSG00000272030', 'score': 550.77}, {'connected_gene': 'S100A1', 'score': 55.06}, {'connected_gene': 'CRTC2', 'score': 18.16}, {'connected_gene': 'UBAP2L', 'score': 13.36}, {'connected_gene': 'SLC27A3', 'score': 13.1}, {'connected_gene': 'INTS3', 'score': 11.95}, {'connected_gene': 'ILF2', 'score': 11.7}, {'connected_gene': 'ENSG00000238279', 'score': 11.14}, {'connected_gene': 'LOC343052', 'score': 10.28}, {'connected_gene': 'NUP210L', 'score': 8.45}, {'connected_gene': 'SPRR2D', 'score': 4.57}, {'connected_gene': 'SNAPIN', 'score': 0.34}]
chr1 GH01I153657 153657926 153660002 2.02 [{'connected_gene': 'SNAPIN', 'score': 550.77}, {'connected_gene': 'S100A1', 'score': 23.68}, {'connected_gene': 'CHTOP', 'score': 15.4}, {'connected_gene': 'UBAP2L', 'score': 14.86}, {'connected_gene': 'ILF2', 'score': 12.82}, {'connected_gene': 'CREB3L4', 'score': 11.18}, {'connected_gene': 'INTS3', 'score': 11.09}, {'connected_gene': 'GC01M153662', 'score': 0.77}]
chr1 GH01I153652 153652801 153653599 0.46 [{'connected_gene': 'SNAPIN', 'score': 0.44}, {'connected_gene': 'ENSG00000272030', 'score': 0.37}]
chr1 GH01I153646 153646601 153647600 0.64 [{'connected_gene': 'ENSG00000272030', 'score': 0.39}, {'connected_gene': 'SNAPIN', 'score': 0.39}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.