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
ENST00000463515 [[103338638, 103339574], [103340004, 103341982]] None
ENST00000370168 [[103338638, 103339574], [103340004, 103340173], [103342519, 103342950]] [[103339209, 103339574], [103340004, 103340173], [103342519, 103342732]]
ENST00000370169 [[103338638, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344358, 103344676], [103345072, 103345235], [103345618, 103345913], [103347002, 103347178]] [[103339209, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344358, 103344676], [103345072, 103345235], [103345618, 103345913], [103347002, 103347117]]
ENST00000339310 [[103338638, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103347002, 103347883]] [[103339209, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103347002, 103347062]]
ENST00000299206 [[103338638, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344358, 103344676], [103345072, 103345235], [103345618, 103345913], [103347002, 103347163], [103347641, 103347966]] [[103339209, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344358, 103344676], [103345072, 103345235], [103345618, 103345913], [103347002, 103347117]]
ENST00000370172 [[103338638, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344358, 103344676], [103345072, 103345235], [103345618, 103345913], [103346878, 103346957], [103347960, 103348005]] [[103339209, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344358, 103344676], [103345072, 103345235], [103345618, 103345764]]
ENST00000370158 [[103338640, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103347002, 103347883]] [[103339209, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103347002, 103347068]]
ENST00000370162 [[103338640, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344358, 103344676], [103345072, 103345235], [103345618, 103345913], [103347002, 103347163], [103347578, 103348027]] [[103339209, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344358, 103344676], [103345072, 103345235], [103345618, 103345913], [103347002, 103347117]]
ENST00000456836 [[103338732, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344634, 103344676], [103347002, 103347163], [103347960, 103347976]] [[103339209, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344634, 103344676], [103347002, 103347062]]
ENST00000415897 [[103339271, 103339595], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344634, 103344676], [103345072, 103345235], [103345618, 103345913], [103347002, 103347163]] [[103339271, 103339595], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344634, 103344676], [103345072, 103345235], [103345618, 103345913], [103347002, 103347117]]
ENST00000485369 [[103339431, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344358, 103344477], [103344634, 103344676]] None
ENST00000429502 [[103339452, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103347002, 103347163], [103347960, 103347989]] [[103339452, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103347002, 103347062]]
ENST00000470140 [[103340008, 103340173], [103342519, 103342648], [103343264, 103343438], [103345618, 103345913], [103347960, 103347985]] None
ENST00000436284 [[103342846, 103343438], [103344358, 103344676], [103345618, 103345913], [103347960, 103348012]] [[103343386, 103343438], [103344358, 103344676], [103345618, 103345764]]
ENST00000426919 [[103343358, 103343438], [103344358, 103344676], [103345072, 103345235], [103345618, 103345913], [103346878, 103346957], [103347048, 103347162]] [[103343358, 103343438], [103344358, 103344676], [103345072, 103345235], [103345618, 103345913], [103346878, 103346957], [103347048, 103347117]]
ENST00000454524 [[103344367, 103344676], [103345618, 103345913], [103346878, 103346957]] [[103344367, 103344676], [103345618, 103345764]]
ENST00000413344 [[103344443, 103344676], [103345072, 103345235], [103345618, 103345913], [103347002, 103347139], [103347960, 103347987]] [[103344443, 103344676], [103345072, 103345235], [103345618, 103345913], [103347002, 103347117]]
ENST00000461587 [[103344550, 103344676], [103345072, 103345235], [103345618, 103345913], [103347960, 103347999]] None
ENST00000430045 [[103345080, 103345235], [103345618, 103345913], [103347002, 103347163], [103347578, 103347989]] [[103345080, 103345235], [103345618, 103345913], [103347002, 103347117]]
NM_001174084 [[103338638, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344358, 103344676], [103345072, 103345235], [103345618, 103345913], [103347002, 103347163], [103347578, 103348027]] [[103339209, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344358, 103344676], [103345072, 103345235], [103345618, 103345913], [103347002, 103347117]]
NM_013274 [[103338638, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344358, 103344676], [103345072, 103345235], [103345618, 103345913], [103347002, 103347163], [103347641, 103348027]] [[103339209, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344358, 103344676], [103345072, 103345235], [103345618, 103345913], [103347002, 103347117]]
NM_001174085 [[103338638, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344634, 103344676], [103345072, 103345235], [103345618, 103345913], [103347002, 103347163], [103347641, 103348027]] [[103339209, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344634, 103344676], [103345072, 103345235], [103345618, 103345913], [103347002, 103347117]]
NM_001308382 [[103338638, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103347002, 103347163], [103347960, 103348027]] [[103339209, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103347002, 103347068]]
NR_033406 [[103338638, 103339574], [103340004, 103340173], [103342519, 103342648], [103343264, 103343438], [103344358, 103344676], [103345072, 103345235], [103345618, 103345913], [103346878, 103346957], [103347960, 103348027]] None
Promoter
Chrom Start End Description
chr10 103347733 103347744 CAGE_peak_6_at_POLL_5end
chr10 103347845 103347856 CAGE_peak_3_at_POLL_5end
chr10 103347907 103348019 CAGE_peak_1_at_POLL_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I102150 102150664 102154098 2.1 [{'connected_gene': 'NOLC1', 'score': 550.77}, {'connected_gene': 'HPS6', 'score': 25.8}, {'connected_gene': 'PPRC1', 'score': 14.77}, {'connected_gene': 'LDB1', 'score': 14.77}, {'connected_gene': 'GBF1', 'score': 13.64}, {'connected_gene': 'POLL', 'score': 9.73}, {'connected_gene': 'ELOVL3', 'score': 0.19}]
chr10 GH10I101330 101330944 101331300 1.05 [{'connected_gene': 'BTRC', 'score': 13.66}, {'connected_gene': 'RNU2-43P', 'score': 11.83}, {'connected_gene': 'RNU2-59P', 'score': 10.37}, {'connected_gene': 'POLL', 'score': 9.26}, {'connected_gene': 'DPCD', 'score': 9.25}, {'connected_gene': 'PDZD7', 'score': 2.7}, {'connected_gene': 'MGEA5', 'score': 1.28}, {'connected_gene': 'ENSG00000230967', 'score': 0.44}, {'connected_gene': 'GC10P101339', 'score': 0.44}]
chr10 GH10I101367 101367176 101368644 0.87 [{'connected_gene': 'LZTS2', 'score': 11.46}, {'connected_gene': 'RNU2-43P', 'score': 10.6}, {'connected_gene': 'NOLC1', 'score': 10.58}, {'connected_gene': 'SLF2', 'score': 10.31}, {'connected_gene': 'SEC31B', 'score': 9.95}, {'connected_gene': 'POLL', 'score': 4.6}, {'connected_gene': 'GC10M101365', 'score': 0.77}, {'connected_gene': 'RNU2-59P', 'score': 0.77}, {'connected_gene': 'GC10P101379', 'score': 0.39}, {'connected_gene': 'BTRC', 'score': 0.39}]
chr10 GH10I102244 102244396 102247057 2.03 [{'connected_gene': 'GBF1', 'score': 560.46}, {'connected_gene': 'PPRC1', 'score': 15.21}, {'connected_gene': 'POLL', 'score': 9.97}, {'connected_gene': 'PITX3', 'score': 9.27}, {'connected_gene': 'BORCS7', 'score': 5.36}, {'connected_gene': 'RPARP-AS1', 'score': 4.64}, {'connected_gene': 'KCNIP2', 'score': 4.51}, {'connected_gene': 'WBP1L', 'score': 3.8}, {'connected_gene': 'GC10P102286', 'score': 0.26}]
chr10 GH10I101030 101030066 101036428 2.47 [{'connected_gene': 'PDZD7', 'score': 580.21}, {'connected_gene': 'SFXN3', 'score': 557.7}, {'connected_gene': 'MRPL43', 'score': 34.14}, {'connected_gene': 'TWNK', 'score': 30.97}, {'connected_gene': 'KAZALD1', 'score': 13.04}, {'connected_gene': 'TLX1', 'score': 11.6}, {'connected_gene': 'TLX1NB', 'score': 11.59}, {'connected_gene': 'SEMA4G', 'score': 10.89}, {'connected_gene': 'ENSG00000236662', 'score': 10.68}, {'connected_gene': 'MIR608', 'score': 10.68}, {'connected_gene': 'CWF19L1', 'score': 10.66}, {'connected_gene': 'POLL', 'score': 9.97}, {'connected_gene': 'PHBP9', 'score': 9.88}, {'connected_gene': 'ENSG00000273162', 'score': 0.31}]
chr10 GH10I101716 101716904 101717053 0.59 [{'connected_gene': 'FBXW4', 'score': 11.62}, {'connected_gene': 'POLL', 'score': 10.6}, {'connected_gene': 'DPCD', 'score': 10.58}, {'connected_gene': 'ENSG00000224817', 'score': 0.44}, {'connected_gene': 'LOC105378458', 'score': 0.23}]
chr10 GH10I101668 101668261 101668939 0.2 [{'connected_gene': 'FBXW4', 'score': 11.14}, {'connected_gene': 'FGF8', 'score': 10.6}, {'connected_gene': 'RNU6-1165P', 'score': 10.46}, {'connected_gene': 'POLL', 'score': 9.74}, {'connected_gene': 'DPCD', 'score': 9.72}]
chr10 GH10I102312 102312004 102313666 0.77 [{'connected_gene': 'PITX3', 'score': 19.79}, {'connected_gene': 'GBF1', 'score': 11.32}, {'connected_gene': 'ELOVL3', 'score': 10.64}, {'connected_gene': 'POLL', 'score': 6.64}, {'connected_gene': 'GC10P102289', 'score': 0.34}, {'connected_gene': 'NFKB2', 'score': 0.18}]
chr10 GH10I101189 101189172 101190400 0.74 [{'connected_gene': 'TLX1', 'score': 10.82}, {'connected_gene': 'RNU2-43P', 'score': 10.73}, {'connected_gene': 'DPCD', 'score': 9.97}, {'connected_gene': 'POLL', 'score': 9.97}, {'connected_gene': 'LINC01514', 'score': 4.71}, {'connected_gene': 'BLOC1S2', 'score': 4.1}, {'connected_gene': 'SMARCE1P7', 'score': 0.44}, {'connected_gene': 'GC10M101227', 'score': 0.28}]
chr10 GH10I102007 102007703 102008402 0.2 [{'connected_gene': 'KCNIP2', 'score': 12.2}, {'connected_gene': 'C10orf76', 'score': 11.58}, {'connected_gene': 'HPS6', 'score': 11.56}, {'connected_gene': 'KCNIP2-AS1', 'score': 10.47}, {'connected_gene': 'MGEA5', 'score': 10.47}, {'connected_gene': 'FGF8', 'score': 9.35}, {'connected_gene': 'POLL', 'score': 8.96}, {'connected_gene': 'DPCD', 'score': 8.96}, {'connected_gene': 'ENSG00000222430', 'score': 0.22}]
chr10 GH10I102009 102009800 102010201 1.24 [{'connected_gene': 'KCNIP2', 'score': 12.2}, {'connected_gene': 'C10orf76', 'score': 11.58}, {'connected_gene': 'HPS6', 'score': 11.56}, {'connected_gene': 'KCNIP2-AS1', 'score': 10.47}, {'connected_gene': 'MGEA5', 'score': 10.47}, {'connected_gene': 'FGF8', 'score': 9.35}, {'connected_gene': 'POLL', 'score': 8.96}, {'connected_gene': 'DPCD', 'score': 8.96}, {'connected_gene': 'ENSG00000222430', 'score': 0.22}]
chr10 GH10I101606 101606714 101607972 0.69 [{'connected_gene': 'POLL', 'score': 6.98}, {'connected_gene': 'DPCD', 'score': 4.98}, {'connected_gene': 'MIR3158-2', 'score': 0.44}, {'connected_gene': 'RNU6-1165P', 'score': 0.37}]
chr10 GH10I101593 101593001 101593708 0.2 [{'connected_gene': 'POLL', 'score': 7.05}, {'connected_gene': 'GC10P101599', 'score': 0.44}, {'connected_gene': 'DPCD', 'score': 0.34}, {'connected_gene': 'GC10P101487', 'score': 0.14}]
chr10 GH10I101586 101586838 101589240 1.99 [{'connected_gene': 'POLL', 'score': 550.77}, {'connected_gene': 'DPCD', 'score': 550.37}, {'connected_gene': 'GC10P101487', 'score': 0.15}]
chr10 GH10I101478 101478779 101478956 0.22 [{'connected_gene': 'DPCD', 'score': 11.72}, {'connected_gene': 'POLL', 'score': 10.13}, {'connected_gene': 'BTRC', 'score': 4.44}, {'connected_gene': 'GC10P101487', 'score': 0.44}, {'connected_gene': 'GC10M101454', 'score': 0.44}]
chr10 GH10I101616 101616886 101618129 0.74 [{'connected_gene': 'DPCD', 'score': 16.08}, {'connected_gene': 'POLL', 'score': 11.12}, {'connected_gene': 'FGF8', 'score': 11.05}, {'connected_gene': 'BTRC', 'score': 9.4}, {'connected_gene': 'RNU6-1165P', 'score': 0.44}, {'connected_gene': 'MIR3158-2', 'score': 0.37}, {'connected_gene': 'FBXW4', 'score': 0.18}]
chr10 GH10I101576 101576004 101576153 0.84 [{'connected_gene': 'DPCD', 'score': 0.44}, {'connected_gene': 'POLL', 'score': 0.39}, {'connected_gene': 'GC10P101487', 'score': 0.17}]
chr10 GH10I101725 101725852 101726422 0.31 [{'connected_gene': 'FGF8', 'score': 11.32}, {'connected_gene': 'FBXW4', 'score': 11.3}, {'connected_gene': 'POLL', 'score': 10.34}, {'connected_gene': 'DPCD', 'score': 10.32}, {'connected_gene': 'HPS6', 'score': 9.11}, {'connected_gene': 'ENSG00000224817', 'score': 0.37}, {'connected_gene': 'LOC105378458', 'score': 0.26}]
chr10 GH10I101484 101484234 101484611 0.69 [{'connected_gene': 'RNU2-43P', 'score': 10.77}, {'connected_gene': 'DPCD', 'score': 10.76}, {'connected_gene': 'TLX1', 'score': 10.29}, {'connected_gene': 'POLL', 'score': 9.91}, {'connected_gene': 'GC10P101487', 'score': 0.77}, {'connected_gene': 'GC10M101454', 'score': 0.39}, {'connected_gene': 'BTRC', 'score': 0.12}]
chr10 GH10I101642 101642663 101645492 0.43 [{'connected_gene': 'RNU6-1165P', 'score': 11.9}, {'connected_gene': 'POLL', 'score': 11.16}, {'connected_gene': 'DPCD', 'score': 11.13}, {'connected_gene': 'FGF8', 'score': 10.45}, {'connected_gene': 'RNU2-43P', 'score': 9.59}, {'connected_gene': 'HPS6', 'score': 6.5}, {'connected_gene': 'FBXW4', 'score': 0.23}]
chr10 GH10I101580 101580620 101581249 0.31 [{'connected_gene': 'RNU6-1165P', 'score': 10.27}, {'connected_gene': 'RNU2-43P', 'score': 9.93}, {'connected_gene': 'POLL', 'score': 6.69}, {'connected_gene': 'DPCD', 'score': 0.39}, {'connected_gene': 'GC10P101487', 'score': 0.16}]
chr10 GH10I102501 102501067 102505710 2.08 [{'connected_gene': 'ACTR1A', 'score': 550.77}, {'connected_gene': 'SUFU', 'score': 550.77}, {'connected_gene': 'MFSD13A', 'score': 45.58}, {'connected_gene': 'PDCD11', 'score': 30.74}, {'connected_gene': 'TAF5', 'score': 16.83}, {'connected_gene': 'PPRC1', 'score': 15.12}, {'connected_gene': 'PCGF6', 'score': 14.25}, {'connected_gene': 'RNU6-43P', 'score': 11.6}, {'connected_gene': 'C10orf95', 'score': 11.31}, {'connected_gene': 'FBXL15', 'score': 10.96}, {'connected_gene': 'PSD', 'score': 10.96}, {'connected_gene': 'POLL', 'score': 9.97}, {'connected_gene': 'GBF1', 'score': 9.76}, {'connected_gene': 'RPARP-AS1', 'score': 5.03}, {'connected_gene': 'GC10P102507', 'score': 0.77}, {'connected_gene': 'GC10M102448', 'score': 0.37}, {'connected_gene': 'GC10M102383', 'score': 0.08}, {'connected_gene': 'GC10M102382', 'score': 0.08}]
chr10 GH10I100909 100909540 100914389 2.46 [{'connected_gene': 'ENSG00000272572', 'score': 561.28}, {'connected_gene': 'SLF2', 'score': 555.34}, {'connected_gene': 'MRPL43', 'score': 22.19}, {'connected_gene': 'TWNK', 'score': 20.93}, {'connected_gene': 'CWF19L1', 'score': 19.84}, {'connected_gene': 'CHUK', 'score': 19.17}, {'connected_gene': 'POLL', 'score': 18.0}, {'connected_gene': 'PHBP9', 'score': 12.35}, {'connected_gene': 'SEMA4G', 'score': 10.74}, {'connected_gene': 'MIR608', 'score': 10.72}, {'connected_gene': 'DNMBP', 'score': 9.95}, {'connected_gene': 'ENSG00000222072', 'score': 0.77}]
chr10 GH10I101452 101452239 101452497 0.63 [{'connected_gene': 'GC10P101452', 'score': 550.77}, {'connected_gene': 'RNU2-43P', 'score': 10.31}, {'connected_gene': 'TLX1', 'score': 10.06}, {'connected_gene': 'DPCD', 'score': 9.94}, {'connected_gene': 'POLL', 'score': 9.93}, {'connected_gene': 'BTRC', 'score': 9.64}, {'connected_gene': 'GC10M101454', 'score': 0.37}]
chr10 GH10I101453 101453824 101453993 0.78 [{'connected_gene': 'GC10P101452', 'score': 550.77}, {'connected_gene': 'RNU2-43P', 'score': 10.31}, {'connected_gene': 'TLX1', 'score': 10.06}, {'connected_gene': 'DPCD', 'score': 9.94}, {'connected_gene': 'POLL', 'score': 9.93}, {'connected_gene': 'BTRC', 'score': 9.64}, {'connected_gene': 'GC10M101454', 'score': 0.37}]
chr10 GH10I101451 101451610 101452195 0.84 [{'connected_gene': 'GC10P101452', 'score': 550.77}, {'connected_gene': 'RNU2-43P', 'score': 10.31}, {'connected_gene': 'TLX1', 'score': 10.06}, {'connected_gene': 'DPCD', 'score': 9.94}, {'connected_gene': 'POLL', 'score': 9.93}, {'connected_gene': 'BTRC', 'score': 9.64}, {'connected_gene': 'GC10P101447', 'score': 0.77}]
chr10 GH10I101485 101485253 101486853 1.73 [{'connected_gene': 'GC10P101487', 'score': 550.77}, {'connected_gene': 'RNU2-43P', 'score': 10.77}, {'connected_gene': 'DPCD', 'score': 10.77}, {'connected_gene': 'TLX1', 'score': 10.3}, {'connected_gene': 'POLL', 'score': 9.91}, {'connected_gene': 'KCNIP2-AS1', 'score': 4.49}, {'connected_gene': 'MFSD13A', 'score': 3.73}, {'connected_gene': 'GC10M101454', 'score': 0.37}, {'connected_gene': 'BTRC', 'score': 0.12}]

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