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
ENST00000479948 [[161166893, 161166946], [161171936, 161172270], [161173226, 161173333], [161176196, 161176383]] None
ENST00000496133 [[161167208, 161167277], [161171936, 161172270], [161173226, 161173333], [161176196, 161176387], [161178982, 161179096]] None
ENST00000367993 [[161169104, 161169313], [161171936, 161172270], [161173226, 161173333], [161176196, 161176387], [161178982, 161179103], [161179272, 161179385], [161179646, 161179721], [161179900, 161179978], [161180093, 161180179], [161180380, 161180500], [161182140, 161182270], [161183169, 161183265], [161183438, 161183522], [161183653, 161183711], [161183945, 161184185]] [[161172175, 161172270], [161173226, 161173333], [161176196, 161176387], [161178982, 161179103], [161179272, 161179385], [161179646, 161179721], [161179900, 161179978], [161180093, 161180179], [161180380, 161180500], [161182140, 161182270], [161183169, 161183265], [161183438, 161183522], [161183653, 161183711], [161183945, 161183983]]
ENST00000496553 [[161171835, 161172270], [161173226, 161173333], [161176196, 161176387], [161178982, 161179103], [161179272, 161179306]] None
ENST00000392179 [[161171936, 161172270], [161173226, 161173333], [161176196, 161176387], [161178982, 161179103], [161179272, 161179385], [161179646, 161179721], [161179900, 161179978], [161180093, 161180179], [161180380, 161180500], [161182140, 161182270], [161183169, 161183265], [161183438, 161183522], [161183653, 161184182]] [[161172175, 161172270], [161173226, 161173333], [161176196, 161176387], [161178982, 161179103], [161179272, 161179385], [161179646, 161179721], [161179900, 161179978], [161180093, 161180179], [161180380, 161180500], [161182140, 161182270], [161183169, 161183265], [161183438, 161183522], [161183653, 161183731]]
ENST00000467295 [[161172138, 161172270], [161173226, 161173333], [161173576, 161173627], [161176196, 161176387], [161178982, 161179103], [161179272, 161179385], [161179646, 161179721], [161179900, 161179978], [161180093, 161180179], [161180380, 161180486]] None
ENST00000475570 [[161172161, 161172270], [161173226, 161173623]] None
ENST00000476409 [[161172161, 161172270], [161176196, 161176387], [161178982, 161179103], [161179272, 161179385], [161179646, 161179721], [161179900, 161179978], [161180093, 161180179], [161180380, 161180839]] [[161176288, 161176387], [161178982, 161179103], [161179272, 161179385], [161179646, 161179721], [161179900, 161179978], [161180093, 161180179], [161180380, 161180504]]
ENST00000478866 [[161172165, 161172270], [161173226, 161173333], [161176196, 161176387], [161178982, 161179103], [161179272, 161179385], [161179646, 161179721], [161179900, 161180264]] None
ENST00000473321 [[161176198, 161176387], [161178982, 161179103], [161179272, 161179517]] None
ENST00000483804 [[161179028, 161179103], [161179272, 161179385], [161179646, 161179721], [161179900, 161179978], [161180093, 161180179], [161180380, 161180500], [161182140, 161182270], [161182381, 161182444], [161183169, 161183265], [161183438, 161183522], [161183653, 161183711], [161183945, 161184029]] None
ENST00000480762 [[161179272, 161179385], [161179646, 161179721], [161179900, 161180500], [161182140, 161182270], [161183169, 161183202]] None
ENST00000465923 [[161179654, 161179721], [161179900, 161179978], [161180093, 161180179], [161180380, 161180500], [161182140, 161182270], [161183169, 161183265], [161183438, 161183522], [161183653, 161184185]] None
ENST00000493849 [[161180464, 161180500], [161182140, 161182270], [161183169, 161183265], [161183438, 161184086]] None
ENST00000468828 [[161182140, 161182270], [161182879, 161182972], [161183169, 161183265], [161183438, 161183522], [161183653, 161184149]] None
ENST00000492153 [[161183039, 161183265], [161183438, 161183522], [161183653, 161183769]] None
NM_004550 [[161169104, 161169313], [161171936, 161172270], [161173226, 161173333], [161176196, 161176387], [161178982, 161179103], [161179272, 161179385], [161179646, 161179721], [161179900, 161179978], [161180093, 161180179], [161180380, 161180500], [161182140, 161182270], [161183169, 161183265], [161183438, 161183522], [161183653, 161183711], [161183945, 161184185]] [[161172175, 161172270], [161173226, 161173333], [161176196, 161176387], [161178982, 161179103], [161179272, 161179385], [161179646, 161179721], [161179900, 161179978], [161180093, 161180179], [161180380, 161180500], [161182140, 161182270], [161183169, 161183265], [161183438, 161183522], [161183653, 161183711], [161183945, 161183983]]
NM_001166159 [[161171936, 161172270], [161173226, 161173333], [161176196, 161176387], [161178982, 161179103], [161179272, 161179385], [161179646, 161179721], [161179900, 161179978], [161180093, 161180179], [161180380, 161180500], [161182140, 161182270], [161183169, 161183265], [161183438, 161183522], [161183653, 161184185]] [[161172175, 161172270], [161173226, 161173333], [161176196, 161176387], [161178982, 161179103], [161179272, 161179385], [161179646, 161179721], [161179900, 161179978], [161180093, 161180179], [161180380, 161180500], [161182140, 161182270], [161183169, 161183265], [161183438, 161183522], [161183653, 161183731]]
Promoter
Chrom Start End Description
chr1 161167199 161167216 CAGE_peak_2_at_NDUFS2_5end
chr1 161172143 161172169 CAGE_peak_1_at_NDUFS2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I161237 161237614 161239146 1.34 [{'connected_gene': 'NR1I3', 'score': 550.77}, {'connected_gene': 'SDHC', 'score': 11.26}, {'connected_gene': 'MPZ', 'score': 11.13}, {'connected_gene': 'NECTIN4', 'score': 9.34}, {'connected_gene': 'NDUFS2', 'score': 5.8}, {'connected_gene': 'ADAMTS4', 'score': 4.43}, {'connected_gene': 'MIR5187', 'score': 0.39}]
chr1 GH01I161209 161209411 161210247 0.85 [{'connected_gene': 'NR1I3', 'score': 12.38}, {'connected_gene': 'CFAP126', 'score': 11.89}, {'connected_gene': 'SDHC', 'score': 11.12}, {'connected_gene': 'NDUFS2', 'score': 9.14}, {'connected_gene': 'FCER1G', 'score': 0.44}, {'connected_gene': 'ADAMTS4', 'score': 0.39}]
chr1 GH01I161181 161181277 161188841 1.55 [{'connected_gene': 'B4GALT3', 'score': 12.21}, {'connected_gene': 'ADAMTS4', 'score': 8.6}, {'connected_gene': 'SLAMF7', 'score': 7.4}, {'connected_gene': 'PPOX', 'score': 6.88}, {'connected_gene': 'NIT1', 'score': 6.84}, {'connected_gene': 'FCER1G', 'score': 4.69}, {'connected_gene': 'CD48', 'score': 3.93}, {'connected_gene': 'ARHGAP30', 'score': 3.86}, {'connected_gene': 'CD244', 'score': 2.86}, {'connected_gene': 'FCGR3A', 'score': 2.69}, {'connected_gene': 'HSPA6', 'score': 1.82}, {'connected_gene': 'USF1', 'score': 1.7}, {'connected_gene': 'FCGR2A', 'score': 1.59}, {'connected_gene': 'LY9', 'score': 1.15}, {'connected_gene': 'NDUFS2', 'score': 0.39}]
chr1 GH01I161189 161189251 161189400 0.2 [{'connected_gene': 'B4GALT3', 'score': 27.02}, {'connected_gene': 'ADAMTS4', 'score': 8.62}, {'connected_gene': 'NDUFS2', 'score': 0.44}]
chr1 GH01I161206 161206185 161208300 0.89 [{'connected_gene': 'B4GALT3', 'score': 21.32}, {'connected_gene': 'PPOX', 'score': 13.1}, {'connected_gene': 'NR1I3', 'score': 11.78}, {'connected_gene': 'SDHC', 'score': 10.75}, {'connected_gene': 'MPZ', 'score': 10.6}, {'connected_gene': 'LOC105371471', 'score': 9.73}, {'connected_gene': 'NDUFS2', 'score': 7.55}, {'connected_gene': 'TOMM40L', 'score': 6.16}, {'connected_gene': 'ADAMTS4', 'score': 3.78}, {'connected_gene': 'APOA2', 'score': 3.43}, {'connected_gene': 'HSPA6', 'score': 2.42}, {'connected_gene': 'FCER1G', 'score': 0.44}]
chr1 GH01I161171 161171600 161174140 0.56 [{'connected_gene': 'B4GALT3', 'score': 9.97}, {'connected_gene': 'NIT1', 'score': 6.04}, {'connected_gene': 'NDUFS2', 'score': 5.58}, {'connected_gene': 'PPOX', 'score': 0.44}]
chr1 GH01I161222 161222994 161229603 2.09 [{'connected_gene': 'TOMM40L', 'score': 557.85}, {'connected_gene': 'APOA2', 'score': 550.77}, {'connected_gene': 'MIR5187', 'score': 550.77}, {'connected_gene': 'B4GALT3', 'score': 12.21}, {'connected_gene': 'LOC100287049', 'score': 10.4}, {'connected_gene': 'DEDD', 'score': 10.11}, {'connected_gene': 'NDUFS2', 'score': 6.41}, {'connected_gene': 'FCER1G', 'score': 4.57}]
chr1 GH01I161191 161191280 161192128 0.31 [{'connected_gene': 'TOMM40L', 'score': 7.11}, {'connected_gene': 'NDUFS2', 'score': 0.44}, {'connected_gene': 'ADAMTS4', 'score': 0.44}, {'connected_gene': 'B4GALT3', 'score': 0.39}]
chr1 GH01I161381 161381751 161383896 1.3 [{'connected_gene': 'SDHC', 'score': 35.14}, {'connected_gene': 'NR1I3', 'score': 11.65}, {'connected_gene': 'APOA2', 'score': 11.65}, {'connected_gene': 'TOMM40L', 'score': 11.65}, {'connected_gene': 'ADAMTS4', 'score': 11.6}, {'connected_gene': 'NDUFS2', 'score': 11.6}, {'connected_gene': 'MPZ', 'score': 11.1}, {'connected_gene': 'RRM2P2', 'score': 0.77}, {'connected_gene': 'ENSG00000283696', 'score': 0.37}]
chr1 GH01I161378 161378977 161379441 0.45 [{'connected_gene': 'RRM2P2', 'score': 550.77}, {'connected_gene': 'NDUFS2', 'score': 13.23}, {'connected_gene': 'NR1I3', 'score': 11.65}, {'connected_gene': 'TOMM40L', 'score': 11.65}, {'connected_gene': 'APOA2', 'score': 11.65}, {'connected_gene': 'ADAMTS4', 'score': 11.6}, {'connected_gene': 'SDHC', 'score': 11.18}, {'connected_gene': 'MPZ', 'score': 11.11}, {'connected_gene': 'CFAP126', 'score': 0.39}]
chr1 GH01I161164 161164080 161167630 2.28 [{'connected_gene': 'PPOX', 'score': 550.77}, {'connected_gene': 'B4GALT3', 'score': 11.21}, {'connected_gene': 'NDUFS2', 'score': 6.69}, {'connected_gene': 'USP21', 'score': 0.44}]
chr1 GH01I161180 161180204 161180887 0.63 [{'connected_gene': 'NIT1', 'score': 6.96}, {'connected_gene': 'B4GALT3', 'score': 0.77}, {'connected_gene': 'NDUFS2', 'score': 0.37}]
chr1 GH01I161192 161192591 161193000 1.12 [{'connected_gene': 'NDUFS2', 'score': 0.77}, {'connected_gene': 'ADAMTS4', 'score': 0.44}, {'connected_gene': 'B4GALT3', 'score': 0.39}]
chr1 GH01I161193 161193272 161195900 1.09 [{'connected_gene': 'NDUFS2', 'score': 8.84}, {'connected_gene': 'ADAMTS4', 'score': 0.77}, {'connected_gene': 'B4GALT3', 'score': 0.37}]
chr1 GH01I161386 161386592 161386862 0.88 [{'connected_gene': 'NDUFS2', 'score': 11.57}, {'connected_gene': 'ADAMTS4', 'score': 11.57}, {'connected_gene': 'SDHC', 'score': 11.21}, {'connected_gene': 'NR1I3', 'score': 11.01}, {'connected_gene': 'APOA2', 'score': 10.99}, {'connected_gene': 'TOMM40L', 'score': 10.99}, {'connected_gene': 'MPZ', 'score': 10.7}, {'connected_gene': 'FCER1G', 'score': 5.48}, {'connected_gene': 'ATF6', 'score': 2.15}, {'connected_gene': 'FCRLB', 'score': 1.44}, {'connected_gene': 'FCGR2A', 'score': 1.32}, {'connected_gene': 'RRM2P2', 'score': 0.44}, {'connected_gene': 'ENSG00000283696', 'score': 0.39}]
chr1 GH01I161196 161196057 161204083 2.59 [{'connected_gene': 'NDUFS2', 'score': 561.69}, {'connected_gene': 'ADAMTS4', 'score': 560.36}, {'connected_gene': 'DUSP12', 'score': 27.96}, {'connected_gene': 'B4GALT3', 'score': 20.76}, {'connected_gene': 'USP21', 'score': 20.46}, {'connected_gene': 'PPOX', 'score': 19.03}, {'connected_gene': 'LOC100287049', 'score': 12.36}, {'connected_gene': 'DCAF8', 'score': 9.78}, {'connected_gene': 'NIT1', 'score': 7.21}, {'connected_gene': 'TOMM40L', 'score': 6.45}, {'connected_gene': 'PCP4L1', 'score': 2.51}, {'connected_gene': 'FCER1G', 'score': 0.37}]
chr1 GH01I161213 161213952 161220376 1.94 [{'connected_gene': 'FCER1G', 'score': 555.77}, {'connected_gene': 'B4GALT3', 'score': 26.11}, {'connected_gene': 'NDUFS2', 'score': 18.71}, {'connected_gene': 'CFAP126', 'score': 11.41}, {'connected_gene': 'MPZ', 'score': 10.91}, {'connected_gene': 'SDHC', 'score': 10.9}, {'connected_gene': 'DEDD', 'score': 10.42}, {'connected_gene': 'TOMM40L', 'score': 9.6}, {'connected_gene': 'NCSTN', 'score': 4.97}, {'connected_gene': 'ADAMTS4', 'score': 4.51}, {'connected_gene': 'APOA2', 'score': 0.44}]
chr1 GH01I161304 161304969 161307935 1.42 [{'connected_gene': 'FCER1G', 'score': 11.91}, {'connected_gene': 'NDUFS2', 'score': 11.89}, {'connected_gene': 'NR1I3', 'score': 11.43}, {'connected_gene': 'APOA2', 'score': 11.4}, {'connected_gene': 'TOMM40L', 'score': 11.4}, {'connected_gene': 'PCP4L1', 'score': 11.31}, {'connected_gene': 'SDHC', 'score': 9.16}, {'connected_gene': 'FCGR2C', 'score': 4.86}, {'connected_gene': 'MPZ', 'score': 0.77}, {'connected_gene': 'LOC105371472', 'score': 0.34}]
chr1 GH01I161096 161096224 161099132 2.12 [{'connected_gene': 'KLHDC9', 'score': 567.8}, {'connected_gene': 'USP21', 'score': 157.92}, {'connected_gene': 'DUSP12', 'score': 145.37}, {'connected_gene': 'PPOX', 'score': 88.24}, {'connected_gene': 'LOC100287049', 'score': 78.15}, {'connected_gene': 'DEDD', 'score': 68.19}, {'connected_gene': 'NCSTN', 'score': 52.13}, {'connected_gene': 'RPSAP18', 'score': 45.98}, {'connected_gene': 'LOC148430', 'score': 39.75}, {'connected_gene': 'DCAF8', 'score': 38.23}, {'connected_gene': 'B4GALT3', 'score': 36.38}, {'connected_gene': 'ATF6', 'score': 32.82}, {'connected_gene': 'COPA', 'score': 27.97}, {'connected_gene': 'LOC729867', 'score': 13.88}, {'connected_gene': 'LY9', 'score': 10.47}, {'connected_gene': 'SLAMF6', 'score': 10.28}, {'connected_gene': 'FCER1G', 'score': 7.13}, {'connected_gene': 'NDUFS2', 'score': 6.32}, {'connected_gene': 'NIT1', 'score': 5.5}, {'connected_gene': 'NECTIN4', 'score': 0.44}]
chr1 GH01I161011 161011352 161023074 2.16 [{'connected_gene': 'DUSP12', 'score': 74.64}, {'connected_gene': 'USP21', 'score': 72.51}, {'connected_gene': 'LOC100287049', 'score': 65.99}, {'connected_gene': 'DEDD', 'score': 42.11}, {'connected_gene': 'PPOX', 'score': 41.65}, {'connected_gene': 'TSTD1', 'score': 33.18}, {'connected_gene': 'LOC148430', 'score': 32.97}, {'connected_gene': 'B4GALT3', 'score': 29.85}, {'connected_gene': 'ARHGAP30', 'score': 24.17}, {'connected_gene': 'KLHDC9', 'score': 22.28}, {'connected_gene': 'DCAF8', 'score': 20.08}, {'connected_gene': 'FCGR2A', 'score': 19.25}, {'connected_gene': 'USF1', 'score': 17.68}, {'connected_gene': 'RPSAP18', 'score': 16.18}, {'connected_gene': 'LOC105371471', 'score': 10.91}, {'connected_gene': 'NECTIN4', 'score': 10.9}, {'connected_gene': 'F11R', 'score': 10.52}, {'connected_gene': 'LY9', 'score': 9.87}, {'connected_gene': 'ITLN1', 'score': 9.71}, {'connected_gene': 'ENSG00000228863', 'score': 9.37}, {'connected_gene': 'ENSG00000232879', 'score': 7.77}, {'connected_gene': 'FCER1G', 'score': 6.31}, {'connected_gene': 'CD244', 'score': 4.98}, {'connected_gene': 'SLAMF7', 'score': 4.61}, {'connected_gene': 'CD48', 'score': 4.18}, {'connected_gene': 'ADAMTS4', 'score': 2.7}, {'connected_gene': 'NDUFS2', 'score': 1.4}, {'connected_gene': 'NR1I3', 'score': 1.24}, {'connected_gene': 'CD84', 'score': 1.13}, {'connected_gene': 'PIR46981', 'score': 0.37}, {'connected_gene': 'GC01M161000', 'score': 0.37}, {'connected_gene': 'ENSG00000270149', 'score': 0.34}]

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