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
ENST00000325110 [[43289496, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298110, 43298236], [43298619, 43299077], [43307867, 43307926], [43313457, 43313595]] [[43291232, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298110, 43298236], [43298619, 43299067]]
ENST00000433297 [[43289496, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298110, 43298236], [43298619, 43299077], [43313457, 43313614]] [[43291232, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298110, 43298236], [43298619, 43299067]]
ENST00000508319 [[43293835, 43294264], [43294792, 43294954]] None
ENST00000514610 [[43294514, 43294963], [43295853, 43295959]] None
ENST00000507004 [[43298245, 43299077], [43313457, 43313575]] None
ENST00000507293 [[43298547, 43299077], [43307867, 43307926], [43313457, 43313576]] None
ENST00000511774 [[43298780, 43299077], [43313123, 43313326]] [[43298780, 43299067]]
NM_001324219 [[43287571, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298110, 43298236], [43298619, 43299077], [43313123, 43313326]] [[43291232, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298110, 43298236], [43298619, 43299067]]
NM_001330663 [[43287571, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298110, 43298236], [43298619, 43299077], [43307867, 43307926], [43313123, 43313399]] [[43291232, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298110, 43298236], [43298619, 43299067]]
NM_001324220 [[43287571, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298110, 43298236], [43298619, 43299077], [43307867, 43307946], [43313457, 43313614]] [[43291232, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298110, 43298236], [43298619, 43299067]]
NM_001324224 [[43287571, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298619, 43299077], [43307867, 43307946], [43313457, 43313614]] [[43291232, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298619, 43299067]]
NM_001098272 [[43287571, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298110, 43298236], [43298619, 43299077], [43307867, 43307926], [43313457, 43313614]] [[43291232, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298110, 43298236], [43298619, 43299067]]
NM_001324222 [[43287571, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298619, 43299077], [43307867, 43307926], [43313457, 43313614]] [[43291232, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298619, 43299067]]
NM_002130 [[43287571, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298110, 43298236], [43298619, 43299077], [43313457, 43313614]] [[43291232, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298110, 43298236], [43298619, 43299067]]
NM_001324223 [[43287571, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298619, 43299077], [43313457, 43313614]] [[43291232, 43291322], [43292575, 43292739], [43292949, 43293075], [43294157, 43294264], [43294792, 43294963], [43295853, 43296019], [43297103, 43297268], [43298619, 43299067]]
Promoter
Chrom Start End Description
chr5 43290186 43290201 CAGE_peak_4_at_HMGCS1_5end
chr5 43290228 43290243 CAGE_peak_5_at_HMGCS1_5end
chr5 43290247 43290260 CAGE_peak_7_at_HMGCS1_5end
chr5 43290263 43290275 CAGE_peak_8_at_HMGCS1_5end
chr5 43290298 43290315 CAGE_peak_6_at_HMGCS1_5end
chr5 43313269 43313288 CAGE_peak_13_at_HMGCS1_5end
chr5 43313505 43313521 CAGE_peak_1_at_HMGCS1_5end
chr5 43313543 43313554 CAGE_peak_2_at_HMGCS1_5end
chr5 43313574 43313585 CAGE_peak_3_at_HMGCS1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I043482 43482216 43487798 2.1 [{'connected_gene': 'TMEM267', 'score': 588.89}, {'connected_gene': 'ENSG00000249492', 'score': 560.98}, {'connected_gene': 'ZNF131', 'score': 63.79}, {'connected_gene': 'EEF1A1P19', 'score': 39.31}, {'connected_gene': 'RPL29P12', 'score': 23.86}, {'connected_gene': 'C5orf34', 'score': 14.46}, {'connected_gene': 'NNT', 'score': 13.17}, {'connected_gene': 'CCL28', 'score': 12.7}, {'connected_gene': 'HMGCS1', 'score': 10.55}, {'connected_gene': 'ENSG00000248240', 'score': 8.57}]
chr5 GH05I043396 43396356 43397713 1.9 [{'connected_gene': 'CCL28', 'score': 550.37}, {'connected_gene': 'ENSG00000249492', 'score': 11.42}, {'connected_gene': 'TMEM267', 'score': 11.42}, {'connected_gene': 'HMGCS1', 'score': 10.92}, {'connected_gene': 'ENSG00000188850', 'score': 0.21}]
chr5 GH05I043311 43311386 43315608 2.1 [{'connected_gene': 'HMGCS1', 'score': 550.77}, {'connected_gene': 'ZNF131', 'score': 51.5}, {'connected_gene': 'TMEM267', 'score': 24.81}, {'connected_gene': 'ENSG00000249492', 'score': 20.03}, {'connected_gene': 'EEF1A1P19', 'score': 12.46}, {'connected_gene': 'LOC648987', 'score': 11.46}, {'connected_gene': 'SERBP1P6', 'score': 11.1}, {'connected_gene': 'ANXA2R', 'score': 10.25}, {'connected_gene': 'ENSG00000272382', 'score': 9.97}, {'connected_gene': 'RPL29P12', 'score': 9.72}, {'connected_gene': 'NNT', 'score': 8.83}, {'connected_gene': 'ENSG00000261604', 'score': 5.39}, {'connected_gene': 'NNT-AS1', 'score': 4.75}, {'connected_gene': 'GC05M043287', 'score': 0.34}, {'connected_gene': 'GC05P043232', 'score': 0.18}]
chr5 GH05I043347 43347413 43349408 0.57 [{'connected_gene': 'HMGCS1', 'score': 10.49}, {'connected_gene': 'NNT', 'score': 8.58}, {'connected_gene': 'ENSG00000188850', 'score': 0.39}, {'connected_gene': 'CCL28', 'score': 0.21}, {'connected_gene': 'GC05P043232', 'score': 0.13}]
chr5 GH05I043281 43281539 43282662 0.68 [{'connected_gene': 'HMGCS1', 'score': 11.59}, {'connected_gene': 'NNT', 'score': 8.57}, {'connected_gene': 'ENSG00000261604', 'score': 0.44}, {'connected_gene': 'GC05P043232', 'score': 0.25}, {'connected_gene': 'LOC100419036', 'score': 0.25}]
chr5 GH05I043389 43389799 43389988 0.93 [{'connected_gene': 'HMGCS1', 'score': 11.04}, {'connected_gene': 'NNT-AS1', 'score': 5.65}, {'connected_gene': 'CCL28', 'score': 0.34}, {'connected_gene': 'ENSG00000188850', 'score': 0.23}, {'connected_gene': 'GC05P043232', 'score': 0.1}]
chr5 GH05I043312 43309699 43309948 0.56 [{'connected_gene': 'HMGCS1', 'score': 0.77}, {'connected_gene': 'GC05M043287', 'score': 0.34}, {'connected_gene': 'GC05P043232', 'score': 0.18}]
chr5 GH05I043310 43309299 43309448 0.38 [{'connected_gene': 'HMGCS1', 'score': 0.77}, {'connected_gene': 'GC05M043287', 'score': 0.34}, {'connected_gene': 'GC05P043232', 'score': 0.18}]
chr5 GH05I043309 43309958 43310493 0.49 [{'connected_gene': 'HMGCS1', 'score': 0.77}, {'connected_gene': 'GC05M043287', 'score': 0.34}, {'connected_gene': 'GC05P043232', 'score': 0.18}]
chr5 GH05I043306 43306039 43306248 0.65 [{'connected_gene': 'NNT', 'score': 8.74}, {'connected_gene': 'HMGCS1', 'score': 0.44}, {'connected_gene': 'GC05M043287', 'score': 0.37}, {'connected_gene': 'GC05P043232', 'score': 0.19}]
chr5 GH05I043231 43231817 43231876 0.61 [{'connected_gene': 'NIM1K', 'score': 560.55}, {'connected_gene': 'GC05P043232', 'score': 550.77}, {'connected_gene': 'LOC100419036', 'score': 550.77}, {'connected_gene': 'HMGCS1', 'score': 10.77}, {'connected_gene': 'ENSG00000249888', 'score': 0.44}]
chr5 GH05I043232 43232159 43232308 0.6 [{'connected_gene': 'GC05P043232', 'score': 550.77}, {'connected_gene': 'LOC100419036', 'score': 550.77}, {'connected_gene': 'HMGCS1', 'score': 10.77}, {'connected_gene': 'NIM1K', 'score': 10.54}, {'connected_gene': 'ENSG00000249888', 'score': 0.44}]

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