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
ENST00000411780 [[36120873, 36121351], [36123986, 36124094], [36137505, 36137633]] None
ENST00000447625 [[36120935, 36121351], [36123986, 36124164]] None
ENST00000467603 [[36130815, 36130956], [36137505, 36137614], [36147633, 36147752], [36156194, 36156264]] None
ENST00000397137 [[36145818, 36147752], [36156032, 36156134]] [[36147312, 36147576]]
ENST00000373537 [[36145818, 36147752], [36156194, 36156333]] [[36147312, 36147576]]
ENST00000414542 [[36145819, 36147752], [36149720, 36149853], [36156194, 36156333]] [[36147312, 36147576]]
ENST00000397135 [[36147217, 36147752], [36155975, 36156125]] [[36147312, 36147576]]
ENST00000397134 [[36147254, 36147752], [36148637, 36148705]] [[36147312, 36147576]]
ENST00000397131 [[36147294, 36147752], [36152778, 36152953]] [[36147312, 36147576]]
ENST00000432507 [[36147313, 36147752], [36148839, 36148991]] [[36147313, 36147576]]
ENST00000445723 [[36147341, 36147752], [36149720, 36149811], [36156194, 36156280]] [[36147341, 36147576]]
ENST00000414080 [[36147390, 36147752], [36149720, 36149853], [36156194, 36156280]] [[36147390, 36147576]]
ENST00000456058 [[36147555, 36147752], [36149720, 36150095]] [[36147555, 36147576]]
NM_001317075 [[36145818, 36147752], [36148637, 36148705]] [[36147312, 36147576]]
NM_001317074 [[36145818, 36147752], [36148839, 36148991]] [[36147312, 36147576]]
NM_001167823 [[36145818, 36147752], [36152778, 36152953]] [[36147312, 36147576]]
NM_001167822 [[36145818, 36147752], [36155975, 36156134]] [[36147312, 36147576]]
NM_001167821 [[36145818, 36147752], [36156032, 36156134]] [[36147312, 36147576]]
NM_001167820 [[36145818, 36147752], [36149720, 36149853], [36156194, 36156333]] [[36147312, 36147576]]
NM_006698 [[36145818, 36147752], [36156194, 36156333]] [[36147312, 36147576]]
Promoter
Chrom Start End Description
chr20 36152822 36152833 CAGE_peak_14_at_BLCAP_5end
chr20 36152838 36152861 CAGE_peak_4_at_BLCAP_5end
chr20 36152878 36152889 CAGE_peak_9_at_BLCAP_5end
chr20 36152914 36152926 CAGE_peak_8_at_BLCAP_5end
chr20 36156229 36156250 CAGE_peak_2_at_BLCAP_5end
chr20 36156264 36156288 CAGE_peak_1_at_BLCAP_5end
chr20 36156293 36156304 CAGE_peak_3_at_BLCAP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I036841 36841002 36850599 1.32 [{'connected_gene': 'NDRG3', 'score': 6.9}, {'connected_gene': 'DSN1', 'score': 4.79}, {'connected_gene': 'BLCAP', 'score': 4.56}, {'connected_gene': 'SOGA1', 'score': 0.37}, {'connected_gene': 'GC20P036795', 'score': 0.23}]
chr20 GH20I036830 36830111 36837526 1.76 [{'connected_gene': 'NDRG3', 'score': 6.27}, {'connected_gene': 'BLCAP', 'score': 4.26}, {'connected_gene': 'RBL1', 'score': 2.87}, {'connected_gene': 'DSN1', 'score': 2.08}, {'connected_gene': 'SOGA1', 'score': 0.31}, {'connected_gene': 'GC20P036795', 'score': 0.28}]
chr20 GH20I037506 37506439 37506530 0.46 [{'connected_gene': 'NNAT', 'score': 0.39}, {'connected_gene': 'BLCAP', 'score': 0.34}, {'connected_gene': 'GC20P037451', 'score': 0.23}]
chr20 GH20I037507 37507007 37507280 0.49 [{'connected_gene': 'NNAT', 'score': 0.39}, {'connected_gene': 'BLCAP', 'score': 0.34}, {'connected_gene': 'GC20P037451', 'score': 0.22}]
chr20 GH20I037504 37504224 37504628 0.79 [{'connected_gene': 'SNHG17', 'score': 13.82}, {'connected_gene': 'SNORA71C', 'score': 13.08}, {'connected_gene': 'RBL1', 'score': 12.46}, {'connected_gene': 'RALGAPB', 'score': 12.29}, {'connected_gene': 'RPRD1B', 'score': 11.91}, {'connected_gene': 'TTI1', 'score': 10.54}, {'connected_gene': 'SNORA71A', 'score': 10.17}, {'connected_gene': 'BLCAP', 'score': 7.46}, {'connected_gene': 'NNAT', 'score': 0.37}, {'connected_gene': 'GC20P037451', 'score': 0.23}]
chr20 GH20I037539 37539936 37542839 0.88 [{'connected_gene': 'SNHG17', 'score': 15.55}, {'connected_gene': 'RALGAPB', 'score': 13.42}, {'connected_gene': 'SNORA71C', 'score': 13.38}, {'connected_gene': 'GHRH', 'score': 11.22}, {'connected_gene': 'MROH8', 'score': 10.6}, {'connected_gene': 'RPN2', 'score': 10.6}, {'connected_gene': 'RBL1', 'score': 10.49}, {'connected_gene': 'TTI1', 'score': 9.8}, {'connected_gene': 'BLCAP', 'score': 8.3}, {'connected_gene': 'PPIAP3', 'score': 0.39}, {'connected_gene': 'LINC01746', 'score': 0.31}]
chr20 GH20I037535 37535282 37536715 0.67 [{'connected_gene': 'GHRH', 'score': 11.11}, {'connected_gene': 'MROH8', 'score': 10.6}, {'connected_gene': 'RPN2', 'score': 10.6}, {'connected_gene': 'BLCAP', 'score': 8.31}, {'connected_gene': 'PPIAP3', 'score': 0.44}, {'connected_gene': 'LINC01746', 'score': 0.28}]
chr20 GH20I037516 37516051 37529159 2.82 [{'connected_gene': 'BLCAP', 'score': 560.33}, {'connected_gene': 'NNAT', 'score': 550.77}, {'connected_gene': 'RALGAPB', 'score': 16.31}, {'connected_gene': 'TTI1', 'score': 15.98}, {'connected_gene': 'RBL1', 'score': 14.73}, {'connected_gene': 'SNHG17', 'score': 14.33}, {'connected_gene': 'SOGA1', 'score': 12.17}, {'connected_gene': 'SNORA71C', 'score': 10.51}, {'connected_gene': 'MROH8', 'score': 10.38}, {'connected_gene': 'RPN2', 'score': 10.38}, {'connected_gene': 'DSN1', 'score': 10.04}, {'connected_gene': 'ENSG00000276603', 'score': 0.77}]
chr20 GH20I037511 37511269 37512895 0.2 [{'connected_gene': 'BLCAP', 'score': 7.56}, {'connected_gene': 'NNAT', 'score': 0.44}, {'connected_gene': 'GC20P037451', 'score': 0.21}]
chr20 GH20I037534 37534323 37535168 1.05 [{'connected_gene': 'BLCAP', 'score': 7.61}, {'connected_gene': 'PPIAP3', 'score': 0.77}, {'connected_gene': 'LINC01746', 'score': 0.28}]
chr20 GH20I037264 37264588 37265829 0.68 [{'connected_gene': 'BLCAP', 'score': 5.61}, {'connected_gene': 'MROH8', 'score': 5.04}, {'connected_gene': 'GHRH', 'score': 0.77}, {'connected_gene': 'GC20P037270', 'score': 0.44}, {'connected_gene': 'GC20M037240', 'score': 0.18}]