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
ENST00000488945 [[85912297, 85912344], [85922442, 85922546], [85923080, 85923853]] None
ENST00000263863 [[85921413, 85921593], [85922442, 85922546], [85923080, 85923179], [85924628, 85924800], [85925686, 85925977]] [[85921541, 85921593], [85922442, 85922546], [85923080, 85923179], [85924628, 85924800], [85925686, 85925697]]
ENST00000489214 [[85921415, 85921593], [85921875, 85922119], [85922442, 85922546], [85923080, 85923514]] None
ENST00000482900 [[85921424, 85921593], [85922442, 85922546], [85923080, 85923558]] None
ENST00000464298 [[85921450, 85921593], [85921875, 85922046], [85922442, 85922546], [85923080, 85923617]] None
ENST00000470974 [[85921454, 85921593], [85921875, 85922546], [85923080, 85923229]] None
ENST00000489980 [[85921464, 85922546], [85923080, 85923179], [85924110, 85924800], [85925686, 85925870]] None
ENST00000524600 [[85921480, 85921593], [85922038, 85922119], [85922442, 85922546], [85923080, 85923179], [85924628, 85924800], [85925686, 85925867]] [[85921541, 85921593], [85922038, 85922119], [85922442, 85922546], [85923080, 85923179], [85924628, 85924800], [85925686, 85925697]]
ENST00000533041 [[85921502, 85921593], [85921875, 85922119], [85922442, 85922546], [85923080, 85923179], [85923687, 85923920]] None
ENST00000534351 [[85921548, 85921593], [85921875, 85922046], [85922442, 85922546], [85923080, 85923179], [85924110, 85924224]] None
ENST00000409696 [[85921548, 85921593], [85921875, 85922119], [85922442, 85922546], [85923080, 85923179], [85924628, 85924800], [85925686, 85925880]] [[85922112, 85922119], [85922442, 85922546], [85923080, 85923179], [85924628, 85924800], [85925686, 85925697]]
ENST00000491234 [[85922026, 85922309], [85922442, 85922546], [85923080, 85923655]] None
ENST00000531685 [[85922259, 85922546], [85923080, 85923516]] None
ENST00000526018 [[85922490, 85922546], [85923080, 85923179], [85924628, 85924800], [85925520, 85925570], [85925686, 85925870]] [[85922490, 85922546], [85923080, 85923179], [85924628, 85924800], [85925520, 85925570], [85925686, 85925870]]
NM_006433 [[85921413, 85921593], [85922442, 85922546], [85923080, 85923179], [85924628, 85924800], [85925686, 85925974]] [[85921541, 85921593], [85922442, 85922546], [85923080, 85923179], [85924628, 85924800], [85925686, 85925697]]
NM_001302758 [[85921413, 85921593], [85922038, 85922119], [85922442, 85922546], [85923080, 85923179], [85924628, 85924800], [85925686, 85925974]] [[85921541, 85921593], [85922038, 85922119], [85922442, 85922546], [85923080, 85923179], [85924628, 85924800], [85925686, 85925697]]
NM_012483 [[85921413, 85921593], [85921875, 85922119], [85922442, 85922546], [85923080, 85923179], [85924628, 85924800], [85925686, 85925974]] [[85922112, 85922119], [85922442, 85922546], [85923080, 85923179], [85924628, 85924800], [85925686, 85925697]]
Promoter
Chrom Start End Description
chr2 85912270 85912280 CAGE_peak_12_at_GNLY_5end
chr2 85921250 85921284 CAGE_peak_7_at_GNLY_5end
chr2 85921473 85921488 CAGE_peak_2_at_GNLY_5end
chr2 85921495 85921521 CAGE_peak_1_at_GNLY_5end
chr2 85921522 85921536 CAGE_peak_3_at_GNLY_5end
chr2 85921998 85922016 CAGE_peak_8_at_GNLY_5end
chr2 85922031 85922057 CAGE_peak_5_at_GNLY_5end
chr2 85922440 85922471 CAGE_peak_4_at_GNLY_5end
chr2 85922503 85922515 CAGE_peak_6_at_GNLY_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I085885 85885939 85891131 2.57 [{'connected_gene': 'ST3GAL5', 'score': 560.51}, {'connected_gene': 'ST3GAL5-AS1', 'score': 556.75}, {'connected_gene': 'GC02M085889', 'score': 550.77}, {'connected_gene': 'GC02M085888', 'score': 550.77}, {'connected_gene': 'SNORD94', 'score': 18.04}, {'connected_gene': 'MAT2A', 'score': 12.42}, {'connected_gene': 'TCF7L1', 'score': 11.93}, {'connected_gene': 'LOC284950', 'score': 11.68}, {'connected_gene': 'ELMOD3', 'score': 11.49}, {'connected_gene': 'RNU1-38P', 'score': 10.86}, {'connected_gene': 'POLR1A', 'score': 9.81}, {'connected_gene': 'GNLY', 'score': 1.77}, {'connected_gene': 'CAPG', 'score': 1.19}, {'connected_gene': 'GC02P085883', 'score': 0.44}]
chr2 GH02I085718 85718805 85720597 0.2 [{'connected_gene': 'ATOH8', 'score': 19.88}, {'connected_gene': 'SFTPB', 'score': 15.81}, {'connected_gene': 'LOC284950', 'score': 11.52}, {'connected_gene': 'GNLY', 'score': 11.34}, {'connected_gene': 'CAPG', 'score': 8.66}, {'connected_gene': 'USP39', 'score': 5.47}, {'connected_gene': 'GC02M085730', 'score': 0.44}, {'connected_gene': 'RNU1-38P', 'score': 0.44}, {'connected_gene': 'LOC100130649', 'score': 0.29}]
chr2 GH02I085708 85708635 85709200 0.86 [{'connected_gene': 'ATOH8', 'score': 25.33}, {'connected_gene': 'SFTPB', 'score': 13.31}, {'connected_gene': 'GNLY', 'score': 11.45}, {'connected_gene': 'LOC284950', 'score': 11.39}, {'connected_gene': 'RNU1-38P', 'score': 0.37}, {'connected_gene': 'GC02M085730', 'score': 0.37}, {'connected_gene': 'LOC100130649', 'score': 0.34}]
chr2 GH02I085717 85717738 85717887 0.77 [{'connected_gene': 'ATOH8', 'score': 11.71}, {'connected_gene': 'LOC284950', 'score': 11.4}, {'connected_gene': 'GNLY', 'score': 11.34}, {'connected_gene': 'SFTPB', 'score': 11.07}, {'connected_gene': 'RNU1-38P', 'score': 0.39}, {'connected_gene': 'GC02M085730', 'score': 0.39}, {'connected_gene': 'LOC100130649', 'score': 0.29}]
chr2 GH02I085701 85701078 85707799 1.73 [{'connected_gene': 'ATOH8', 'score': 27.07}, {'connected_gene': 'GNLY', 'score': 23.52}, {'connected_gene': 'LOC100130649', 'score': 18.81}, {'connected_gene': 'SFTPB', 'score': 12.24}, {'connected_gene': 'C2orf68', 'score': 11.89}, {'connected_gene': 'USP39', 'score': 11.88}, {'connected_gene': 'RNU1-38P', 'score': 11.78}, {'connected_gene': 'LOC284950', 'score': 10.92}, {'connected_gene': 'VAMP8', 'score': 10.13}, {'connected_gene': 'SH2D6', 'score': 3.93}, {'connected_gene': 'GC02M085730', 'score': 0.34}]
chr2 GH02I085697 85697001 85699311 0.76 [{'connected_gene': 'ATOH8', 'score': 22.2}, {'connected_gene': 'LOC100130649', 'score': 19.07}, {'connected_gene': 'SFTPB', 'score': 12.16}, {'connected_gene': 'RNU1-38P', 'score': 11.78}, {'connected_gene': 'LOC284950', 'score': 10.02}, {'connected_gene': 'RPS2P17', 'score': 4.91}, {'connected_gene': 'GNLY', 'score': 0.39}, {'connected_gene': 'GC02M085730', 'score': 0.29}]
chr2 GH02I085132 85132438 85135827 2.14 [{'connected_gene': 'TCF7L1', 'score': 550.77}, {'connected_gene': 'POLR1A', 'score': 11.32}, {'connected_gene': 'MAT2A', 'score': 9.93}, {'connected_gene': 'GNLY', 'score': 4.48}, {'connected_gene': 'TCF7L1-IT1', 'score': 0.23}]
chr2 GH02I085690 85690621 85691361 0.31 [{'connected_gene': 'SNORD94', 'score': 19.45}, {'connected_gene': 'ATOH8', 'score': 18.63}, {'connected_gene': 'SFTPB', 'score': 12.08}, {'connected_gene': 'RNU1-38P', 'score': 11.55}, {'connected_gene': 'LOC284950', 'score': 11.15}, {'connected_gene': 'MAT2A', 'score': 9.97}, {'connected_gene': 'LOC100130649', 'score': 0.77}, {'connected_gene': 'GNLY', 'score': 0.44}, {'connected_gene': 'GC02M085730', 'score': 0.28}]
chr2 GH02I085715 85715311 85715915 0.2 [{'connected_gene': 'SFTPB', 'score': 15.81}, {'connected_gene': 'LOC284950', 'score': 11.35}, {'connected_gene': 'GNLY', 'score': 11.32}, {'connected_gene': 'ATOH8', 'score': 10.83}, {'connected_gene': 'RNU1-38P', 'score': 0.39}, {'connected_gene': 'GC02M085730', 'score': 0.39}, {'connected_gene': 'LOC100130649', 'score': 0.31}]
chr2 GH02I086032 86032903 86042385 1.58 [{'connected_gene': 'POLR1A', 'score': 20.33}, {'connected_gene': 'IMMT', 'score': 19.04}, {'connected_gene': 'KDM3A', 'score': 18.0}, {'connected_gene': 'USP39', 'score': 15.36}, {'connected_gene': 'TCF7L1', 'score': 12.7}, {'connected_gene': 'LOC105374845', 'score': 12.03}, {'connected_gene': 'LOC284950', 'score': 11.06}, {'connected_gene': 'ATOH8', 'score': 10.93}, {'connected_gene': 'RNU1-38P', 'score': 10.68}, {'connected_gene': 'SNORD94', 'score': 10.2}, {'connected_gene': 'MRPL35', 'score': 10.1}, {'connected_gene': 'ELMOD3', 'score': 5.15}, {'connected_gene': 'GNLY', 'score': 4.65}, {'connected_gene': 'PLGLB1', 'score': 4.22}, {'connected_gene': 'PTCD3', 'score': 2.16}, {'connected_gene': 'GC02M086022', 'score': 0.39}, {'connected_gene': 'GC02M086068', 'score': 0.29}]
chr2 GH02I086079 86078792 86081676 1.39 [{'connected_gene': 'IMMT', 'score': 23.19}, {'connected_gene': 'POLR1A', 'score': 22.84}, {'connected_gene': 'LOC284950', 'score': 11.25}, {'connected_gene': 'ATOH8', 'score': 10.83}, {'connected_gene': 'RNU1-38P', 'score': 10.43}, {'connected_gene': 'MRPL35', 'score': 4.72}, {'connected_gene': 'GNLY', 'score': 3.42}, {'connected_gene': 'KDM3A', 'score': 1.45}, {'connected_gene': 'GC02P086094', 'score': 0.39}, {'connected_gene': 'GC02M086068', 'score': 0.39}]
chr2 GH02I085637 85637416 85638050 0.72 [{'connected_gene': 'USP39', 'score': 17.96}, {'connected_gene': 'SFTPB', 'score': 12.51}, {'connected_gene': 'GNLY', 'score': 12.16}, {'connected_gene': 'RNU1-38P', 'score': 11.44}, {'connected_gene': 'LOC284950', 'score': 11.4}, {'connected_gene': 'TMEM150A', 'score': 11.28}, {'connected_gene': 'ATOH8', 'score': 11.1}, {'connected_gene': 'VAMP8', 'score': 10.56}, {'connected_gene': 'GC02P085634', 'score': 0.77}]
chr2 GH02I085660 85660057 85660466 0.54 [{'connected_gene': 'USP39', 'score': 25.18}, {'connected_gene': 'GNLY', 'score': 12.01}, {'connected_gene': 'RNU1-38P', 'score': 11.17}, {'connected_gene': 'LOC284950', 'score': 10.55}, {'connected_gene': 'SFTPB', 'score': 8.33}, {'connected_gene': 'SH2D6', 'score': 3.74}, {'connected_gene': 'GC02P085634', 'score': 0.31}]
chr2 GH02I085810 85810761 85812000 0.86 [{'connected_gene': 'RNU1-38P', 'score': 11.94}, {'connected_gene': 'ATOH8', 'score': 11.77}, {'connected_gene': 'GNLY', 'score': 11.22}, {'connected_gene': 'LOC284950', 'score': 5.54}, {'connected_gene': 'PIR53973', 'score': 0.77}]
chr2 GH02I085655 85655546 85656553 0.51 [{'connected_gene': 'RNU1-38P', 'score': 11.59}, {'connected_gene': 'GNLY', 'score': 11.42}, {'connected_gene': 'LOC284950', 'score': 11.12}, {'connected_gene': 'VAMP8', 'score': 10.26}, {'connected_gene': 'SFTPB', 'score': 0.39}, {'connected_gene': 'GC02P085634', 'score': 0.34}]
chr2 GH02I085709 85709294 85713947 1.39 [{'connected_gene': 'GNLY', 'score': 33.56}, {'connected_gene': 'ATOH8', 'score': 25.64}, {'connected_gene': 'LOC100130649', 'score': 14.19}, {'connected_gene': 'SFTPB', 'score': 11.67}, {'connected_gene': 'LOC284950', 'score': 11.15}, {'connected_gene': 'RNU1-38P', 'score': 0.37}, {'connected_gene': 'GC02M085730', 'score': 0.37}]
chr2 GH02I085693 85693683 85694675 1.01 [{'connected_gene': 'GNLY', 'score': 567.2}, {'connected_gene': 'SFTPB', 'score': 12.05}, {'connected_gene': 'RNU1-38P', 'score': 11.57}, {'connected_gene': 'ATOH8', 'score': 11.18}, {'connected_gene': 'LOC284950', 'score': 11.15}, {'connected_gene': 'LOC100130649', 'score': 0.44}, {'connected_gene': 'GC02M085730', 'score': 0.29}]
chr2 GH02I085672 85672201 85673000 0.38 [{'connected_gene': 'GNLY', 'score': 9.12}, {'connected_gene': 'SFTPB', 'score': 0.77}, {'connected_gene': 'LOC105374842', 'score': 0.44}, {'connected_gene': 'GC02P085634', 'score': 0.28}]
chr2 GH02I085683 85683686 85686272 0.8 [{'connected_gene': 'GNLY', 'score': 562.73}, {'connected_gene': 'USP39', 'score': 24.11}, {'connected_gene': 'SNORD94', 'score': 23.0}, {'connected_gene': 'LOC105374845', 'score': 21.99}, {'connected_gene': 'KDM3A', 'score': 13.88}, {'connected_gene': 'TCF7L1', 'score': 12.71}, {'connected_gene': 'C2orf68', 'score': 11.21}, {'connected_gene': 'RNU1-38P', 'score': 11.02}, {'connected_gene': 'LOC100996506', 'score': 10.84}, {'connected_gene': 'LOC284950', 'score': 10.29}, {'connected_gene': 'ATOH8', 'score': 10.25}, {'connected_gene': 'LOC100130649', 'score': 0.77}, {'connected_gene': 'GC02M085686', 'score': 0.77}, {'connected_gene': 'LOC105374842', 'score': 0.77}, {'connected_gene': 'GC02P085634', 'score': 0.23}]
chr2 GH02I085680 85680320 85682713 0.82 [{'connected_gene': 'LOC105374842', 'score': 550.77}, {'connected_gene': 'GNLY', 'score': 15.26}, {'connected_gene': 'RNU1-38P', 'score': 12.08}, {'connected_gene': 'ATOH8', 'score': 11.56}, {'connected_gene': 'LOC284950', 'score': 11.26}, {'connected_gene': 'GC02P085634', 'score': 0.25}]
chr2 GH02I085684 85683078 85683127 0.31 [{'connected_gene': 'LOC105374842', 'score': 550.77}, {'connected_gene': 'GNLY', 'score': 0.77}, {'connected_gene': 'GC02P085634', 'score': 0.25}]
chr2 GH02I085687 85687201 85687600 0.69 [{'connected_gene': 'GC02M085686', 'score': 550.77}, {'connected_gene': 'LOC100130649', 'score': 550.77}, {'connected_gene': 'RNU1-38P', 'score': 11.79}, {'connected_gene': 'ATOH8', 'score': 10.84}, {'connected_gene': 'GNLY', 'score': 0.77}, {'connected_gene': 'GC02M085730', 'score': 0.26}]

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