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
ENST00000370944 [[70726270, 70728530], [70736538, 70736639], [70740402, 70740501], [70742447, 70742527], [70758070, 70758232], [70761812, 70761944], [70766446, 70766591], [70771906, 70771973], [70779427, 70779473], [70781163, 70781249], [70790535, 70790640], [70801740, 70801782], [70819661, 70820405]] [[70728399, 70728530], [70736538, 70736639], [70740402, 70740501], [70742447, 70742527], [70758070, 70758232], [70761812, 70761944], [70766446, 70766591], [70771906, 70771973], [70779427, 70779473], [70781163, 70781249], [70790535, 70790640], [70801740, 70801782], [70819661, 70820091]]
ENST00000262346 [[70726919, 70728530], [70736538, 70736639], [70740402, 70740501], [70742447, 70742527], [70758070, 70758232], [70761812, 70761944], [70766446, 70766591], [70771906, 70771973], [70779427, 70779473], [70781163, 70781249], [70801740, 70801782], [70819661, 70820417]] [[70728399, 70728530], [70736538, 70736639], [70740402, 70740501], [70742447, 70742527], [70758070, 70758232], [70761812, 70761944], [70766446, 70766591], [70771906, 70771973], [70779427, 70779473], [70781163, 70781249], [70801740, 70801782], [70819661, 70820091]]
ENST00000490846 [[70757828, 70758232], [70761812, 70761944], [70766446, 70766591], [70771906, 70771973], [70779427, 70779473]] None
ENST00000498735 [[70771368, 70771640], [70771906, 70771973], [70781163, 70781249], [70790535, 70790640]] None
ENST00000464236 [[70727956, 70728486], [70736538, 70736639], [70740402, 70740501], [70742447, 70742526]] None
NM_030816 [[70724684, 70728530], [70736538, 70736639], [70740402, 70740501], [70742447, 70742527], [70758070, 70758232], [70761812, 70761944], [70766446, 70766591], [70771906, 70771973], [70779427, 70779473], [70781163, 70781249], [70790535, 70790640], [70801740, 70801782], [70819661, 70820417]] [[70728399, 70728530], [70736538, 70736639], [70740402, 70740501], [70742447, 70742527], [70758070, 70758232], [70761812, 70761944], [70766446, 70766591], [70771906, 70771973], [70779427, 70779473], [70781163, 70781249], [70790535, 70790640], [70801740, 70801782], [70819661, 70820091]]
Promoter
Chrom Start End Description
chr1 70820335 70820346 CAGE_peak_2_at_ANKRD13C_5end
chr1 70820357 70820435 CAGE_peak_1_at_ANKRD13C_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I070281 70281143 70281357 0.57 [{'connected_gene': 'SRSF11', 'score': 11.26}, {'connected_gene': 'ANKRD13C', 'score': 1.31}, {'connected_gene': 'GC01M070275', 'score': 0.39}, {'connected_gene': 'GC01P070230', 'score': 0.23}]
chr1 GH01I070340 70340930 70341291 0.34 [{'connected_gene': 'ANKRD13C', 'score': 0.39}, {'connected_gene': 'GC01M070275', 'score': 0.26}]
chr1 GH01I070226 70226238 70226598 0.58 [{'connected_gene': 'LRRC40', 'score': 15.13}, {'connected_gene': 'SRSF11', 'score': 13.95}, {'connected_gene': 'ANKRD13C', 'score': 3.98}, {'connected_gene': 'GC01P070230', 'score': 0.77}, {'connected_gene': 'ENSG00000228988', 'score': 0.44}]
chr1 GH01I070504 70504478 70505087 1.1 [{'connected_gene': 'LRRC40', 'score': 11.83}, {'connected_gene': 'ANKRD13C', 'score': 10.98}, {'connected_gene': 'GC01M070501', 'score': 0.44}, {'connected_gene': 'GC01M070486', 'score': 0.37}]
chr1 GH01I070328 70328518 70328667 0.43 [{'connected_gene': 'LRRC40', 'score': 4.98}, {'connected_gene': 'ANKRD13C', 'score': 0.31}, {'connected_gene': 'GC01M070275', 'score': 0.29}]
chr1 GH01I070409 70409496 70412968 2.3 [{'connected_gene': 'CTH', 'score': 565.78}, {'connected_gene': 'SRSF11', 'score': 23.69}, {'connected_gene': 'HHLA3', 'score': 21.1}, {'connected_gene': 'ZRANB2', 'score': 17.41}, {'connected_gene': 'ANKRD13C', 'score': 17.37}, {'connected_gene': 'ENSG00000278636', 'score': 0.37}]
chr1 GH01I070352 70352378 70355999 2.1 [{'connected_gene': 'HHLA3', 'score': 570.22}, {'connected_gene': 'ANKRD13C', 'score': 561.37}, {'connected_gene': 'LRRC40', 'score': 4.18}, {'connected_gene': 'LOC102724548', 'score': 0.44}, {'connected_gene': 'GC01M070275', 'score': 0.22}]
chr1 GH01I070319 70319128 70321085 0.43 [{'connected_gene': 'HHLA3', 'score': 10.76}, {'connected_gene': 'GC01M070275', 'score': 0.34}, {'connected_gene': 'ANKRD13C', 'score': 0.29}]
chr1 GH01I070284 70284115 70285174 0.31 [{'connected_gene': 'HHLA3', 'score': 6.2}, {'connected_gene': 'GC01M070275', 'score': 0.39}, {'connected_gene': 'GC01P070230', 'score': 0.23}, {'connected_gene': 'ANKRD13C', 'score': 0.19}]
chr1 GH01I070264 70264878 70265027 0.46 [{'connected_gene': 'GC01P070230', 'score': 0.29}, {'connected_gene': 'GC01M070275', 'score': 0.29}, {'connected_gene': 'ANKRD13C', 'score': 0.17}]