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
ENST00000502553 [[33440801, 33440897], [33441151, 33441249], [33445429, 33445510], [33448646, 33448837], [33453393, 33453517], [33455049, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33468038]] [[33441192, 33441249], [33445429, 33445510], [33448646, 33448837], [33453393, 33453517], [33455049, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33467813]]
ENST00000514259 [[33440844, 33440882], [33441151, 33441249], [33445429, 33445510], [33448646, 33448837], [33453393, 33453451]] [[33441192, 33441249], [33445429, 33445510], [33448646, 33448837], [33453393, 33453451]]
ENST00000265112 [[33440881, 33441249], [33445429, 33445510], [33448646, 33448837], [33453393, 33453517], [33455049, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33469644]] [[33441192, 33441249], [33445429, 33445510], [33448646, 33448837], [33453393, 33453517], [33455049, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33467813]]
ENST00000502508 [[33440910, 33441249], [33445429, 33445510], [33446171, 33446303]] None
ENST00000541634 [[33441069, 33441249], [33445429, 33445510], [33453393, 33453517], [33455049, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33468167]] [[33445493, 33445510], [33453393, 33453517], [33455049, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33467813]]
ENST00000508361 [[33441069, 33441249], [33445429, 33445510], [33453393, 33453517], [33455049, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33468190]] [[33441192, 33441249], [33445429, 33445510], [33453393, 33453426]]
ENST00000455217 [[33441070, 33441249], [33445429, 33445510], [33448646, 33448837], [33452445, 33452544], [33453393, 33453517], [33455049, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33467943]] [[33441192, 33441249], [33445429, 33445510], [33448646, 33448837], [33452445, 33452544], [33453393, 33453517], [33455049, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33467813]]
ENST00000414361 [[33441082, 33441249], [33445429, 33445510], [33448646, 33448837], [33455086, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33468167]] [[33448710, 33448837], [33455086, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33467813]]
ENST00000507716 [[33441082, 33441249], [33445429, 33445510], [33448646, 33448837], [33455086, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33468167]] [[33441192, 33441249], [33445429, 33445510], [33448646, 33448837], [33455086, 33455153]]
ENST00000509731 [[33441098, 33441249], [33445429, 33445510], [33446749, 33446870], [33448646, 33448837], [33453393, 33453517], [33455049, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467022]] [[33441192, 33441249], [33445429, 33445510], [33446749, 33446779]]
ENST00000505012 [[33441100, 33441249], [33445429, 33445510], [33448646, 33448837], [33453398, 33453517], [33455049, 33455117]] [[33441192, 33441249], [33445429, 33445510], [33448646, 33448837], [33453398, 33453426]]
ENST00000513066 [[33441101, 33441249], [33445429, 33445510], [33446712, 33446870], [33448646, 33448837], [33453393, 33453471]] [[33441192, 33441249], [33445429, 33445510], [33446712, 33446775]]
ENST00000506040 [[33441486, 33441970], [33445429, 33445510], [33448646, 33448836]] [[33448685, 33448836]]
ENST00000504698 [[33456138, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33460074]] None
ENST00000509410 [[33461112, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466091, 33466321]] None
ENST00000503422 [[33466862, 33467090], [33467664, 33468196]] None
NM_001258437 [[33440801, 33440897], [33441151, 33441249], [33445429, 33445510], [33448646, 33448837], [33453393, 33453517], [33455049, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33468196]] [[33441192, 33441249], [33445429, 33445510], [33448646, 33448837], [33453393, 33453517], [33455049, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33467813]]
NR_047678 [[33440881, 33441249], [33445429, 33445510], [33453393, 33453517], [33455049, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33468196]] None
NR_047677 [[33440881, 33441249], [33445429, 33445510], [33448646, 33448837], [33455086, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33468196]] None
NM_152295 [[33440881, 33441249], [33445429, 33445510], [33448646, 33448837], [33453393, 33453517], [33455049, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33468196]] [[33441192, 33441249], [33445429, 33445510], [33448646, 33448837], [33453393, 33453517], [33455049, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33467813]]
NM_001258438 [[33440881, 33441249], [33445429, 33445510], [33448646, 33448837], [33452445, 33452544], [33453393, 33453517], [33455049, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33468196]] [[33441192, 33441249], [33445429, 33445510], [33448646, 33448837], [33452445, 33452544], [33453393, 33453517], [33455049, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33467813]]
NR_047676 [[33440881, 33441249], [33445429, 33445510], [33446749, 33446870], [33448646, 33448837], [33453393, 33453517], [33455049, 33455171], [33455691, 33455809], [33456106, 33456171], [33456253, 33456332], [33457361, 33457508], [33458670, 33458769], [33459799, 33459966], [33461006, 33461169], [33461262, 33461400], [33461771, 33461849], [33462010, 33462111], [33462203, 33462308], [33463857, 33463930], [33466975, 33467090], [33467664, 33468196]] None
Promoter
Chrom Start End Description
chr5 33440865 33440880 CAGE_peak_4_at_TARS_5end
chr5 33441053 33441109 CAGE_peak_1_at_TARS_5end
chr5 33441112 33441134 CAGE_peak_2_at_TARS_5end
chr5 33441168 33441179 CAGE_peak_3_at_TARS_5end
chr5 33463848 33463872 CAGE_peak_5_at_TARS_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I033261 33261435 33261584 0.43 [{'connected_gene': 'TARS', 'score': 4.37}, {'connected_gene': 'GC05M033232', 'score': 0.31}, {'connected_gene': 'ENSG00000250697', 'score': 0.28}]
chr5 GH05I033448 33448255 33448424 0.52 [{'connected_gene': 'TARS', 'score': 0.44}, {'connected_gene': 'GC05P033478', 'score': 0.29}]
chr5 GH05I033450 33448494 33449444 0.38 [{'connected_gene': 'TARS', 'score': 9.7}, {'connected_gene': 'GC05P033478', 'score': 0.31}]
chr5 GH05I033445 33445975 33446124 0.58 [{'connected_gene': 'TARS', 'score': 0.44}, {'connected_gene': 'GC05P033478', 'score': 0.29}]
chr5 GH05I033444 33444201 33444400 0.58 [{'connected_gene': 'TARS', 'score': 10.53}, {'connected_gene': 'GC05P033478', 'score': 0.29}]
chr5 GH05I033432 33432737 33433309 0.76 [{'connected_gene': 'RXFP3', 'score': 10.83}, {'connected_gene': 'TARS', 'score': 10.51}, {'connected_gene': 'GC05M033441', 'score': 0.44}, {'connected_gene': 'PIR33729', 'score': 0.44}, {'connected_gene': 'GC05M033421', 'score': 0.44}, {'connected_gene': 'ENSG00000249572', 'score': 0.44}]
chr5 GH05I033329 33329977 33331330 0.31 [{'connected_gene': 'ENSG00000250697', 'score': 16.76}, {'connected_gene': 'NPR3', 'score': 6.61}, {'connected_gene': 'TARS', 'score': 6.58}, {'connected_gene': 'ENSG00000249572', 'score': 4.3}, {'connected_gene': 'PIR55286', 'score': 0.25}]
chr5 GH05I033439 33439148 33443427 2.31 [{'connected_gene': 'ENSG00000249572', 'score': 601.3}, {'connected_gene': 'TARS', 'score': 561.25}, {'connected_gene': 'GC05M033441', 'score': 550.77}, {'connected_gene': 'PIR33729', 'score': 550.77}, {'connected_gene': 'RPS8P8', 'score': 19.8}, {'connected_gene': 'LOC643373', 'score': 13.28}, {'connected_gene': 'RXFP3', 'score': 11.21}, {'connected_gene': 'GC05P033478', 'score': 0.28}]
chr5 GH05I033438 33438801 33439000 0.58 [{'connected_gene': 'GC05M033441', 'score': 550.77}, {'connected_gene': 'PIR33729', 'score': 550.77}, {'connected_gene': 'TARS', 'score': 550.77}, {'connected_gene': 'ENSG00000249572', 'score': 550.77}, {'connected_gene': 'RXFP3', 'score': 11.21}, {'connected_gene': 'GC05M033421', 'score': 0.39}]
chr5 GH05I033408 33408511 33410304 0.6 [{'connected_gene': 'ENSG00000249572', 'score': 23.27}, {'connected_gene': 'TARS', 'score': 8.29}, {'connected_gene': 'GC05M033421', 'score': 0.39}, {'connected_gene': 'PIR55286', 'score': 0.31}]
chr5 GH05I033362 33362299 33365015 0.66 [{'connected_gene': 'ENSG00000250697', 'score': 16.26}, {'connected_gene': 'ENSG00000249572', 'score': 5.19}, {'connected_gene': 'TARS', 'score': 4.81}, {'connected_gene': 'PIR55286', 'score': 0.37}]
chr5 GH05I033449 33449648 33450336 0.31 [{'connected_gene': 'ENSG00000249572', 'score': 7.82}, {'connected_gene': 'TARS', 'score': 5.0}, {'connected_gene': 'GC05P033478', 'score': 0.31}]
chr5 GH05I033446 33446839 33448251 0.54 [{'connected_gene': 'ENSG00000249572', 'score': 14.96}, {'connected_gene': 'TARS', 'score': 10.55}, {'connected_gene': 'GC05P033478', 'score': 0.29}]
chr5 GH05I033473 33473116 33473265 0.49 [{'connected_gene': 'GC05P033478', 'score': 0.44}, {'connected_gene': 'TARS', 'score': 0.29}]

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